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WormBase Tree Display for Variation: WBVar00241640

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Name Class

WBVar00241640EvidencePaper_evidenceWBPaper00013467
NamePublic_namert97
Other_nameW02B3.2.1:c.1061C>T
CE32946:p.Thr354Ile
HGVSgCHROMOSOME_III:g.678061C>T
Sequence_detailsSMapS_parentSequenceW02B3
Flanking_sequencesagtcacctaattgtttcaatttcagcggaaccacggctacatggcacccgaagtactggc
Mapping_targetW02B3
Type_of_mutationSubstitutionct
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00008295
LaboratoryHA
StatusLive
AffectsGeneWBGene00001709
TranscriptW02B3.2.1 (12)
Interactor (13)
IsolationMutagenEMSPaper_evidenceWBPaper00013467
GeneticsInterpolated_map_positionIII-26.2886
DescriptionPhenotypeWBPhenotype:0000224Paper_evidenceWBPaper00050796
Curator_confirmedWBPerson2987
Remark"We next evaluated whether there was any change in 5-HT levels in the grk-2 mutants. To quantify the 5-HT levels in N2 and grk-2 mutant strains, we made lysates from purified 2nd day adult worms and determined 5-HT levels by HPLC with electrochemical (EC) detection. These studies revealed an ~40-fold reduction in 5-HT levels in the grk-2(lf) strains (Fig. 4A)."Paper_evidenceWBPaper00050796
Curator_confirmedWBPerson2987
EQ_annotationsGO_termGO:0042428PATO:0000460Paper_evidenceWBPaper00050796
Curator_confirmedWBPerson2987
Molecule_affectedWBMol:00004929PATO:0001997Paper_evidenceWBPaper00050796
Curator_confirmedWBPerson2987
Phenotype_assayControl_strainWBStrain00000001Paper_evidenceWBPaper00050796
Curator_confirmedWBPerson2987
WBPhenotype:0000249Paper_evidenceWBPaper00013467
Curator_confirmedWBPerson48
PenetranceCompletePaper_evidenceWBPaper00013467
Curator_confirmedWBPerson48
RecessivePaper_evidenceWBPaper00013467
Curator_confirmedWBPerson48
Variation_effectHypomorph_reduction_of_functionPaper_evidenceWBPaper00013467
Curator_confirmedWBPerson48
WBPhenotype:0000303Paper_evidenceWBPaper00013467
Curator_confirmedWBPerson48
PenetranceCompletePaper_evidenceWBPaper00013467
Curator_confirmedWBPerson48
RecessivePaper_evidenceWBPaper00013467
Curator_confirmedWBPerson48
Variation_effectHypomorph_reduction_of_functionPaper_evidenceWBPaper00013467
Curator_confirmedWBPerson48
Affected_byMoleculeWBMol:00002819Paper_evidenceWBPaper00013467
Curator_confirmedWBPerson48
WBPhenotype:0000304Paper_evidenceWBPaper00013467
Curator_confirmedWBPerson48
PenetranceCompletePaper_evidenceWBPaper00013467
Curator_confirmedWBPerson48
RecessivePaper_evidenceWBPaper00013467
Curator_confirmedWBPerson48
Variation_effectHypomorph_reduction_of_functionPaper_evidenceWBPaper00013467
Curator_confirmedWBPerson48
Affected_byMoleculeWBMol:00001063Paper_evidenceWBPaper00013467
Curator_confirmedWBPerson48
WBPhenotype:0000412Paper_evidenceWBPaper00013467
Curator_confirmedWBPerson48
PenetranceCompletePaper_evidenceWBPaper00013467
Curator_confirmedWBPerson48
RecessivePaper_evidenceWBPaper00013467
Curator_confirmedWBPerson48
Variation_effectHypomorph_reduction_of_functionPaper_evidenceWBPaper00013467
Curator_confirmedWBPerson48
WBPhenotype:0000545Paper_evidenceWBPaper00050796
Curator_confirmedWBPerson2987
Remark"Although we anticipated that loss of GRK-2 would result in enhanced Gq signaling and constitutive egg laying, both grk-2(lf) alleles were egg laying-defective as each mutant retained ~35 eggs compared with 13-14 eggs in the wild-type N2 worms (Figs. 1B and C)... Expression of GRK-2 in HSNs fully rescued the egg laying defect in grk-2(rt97) ... (Fig. 2C)."Paper_evidenceWBPaper00050796
Curator_confirmedWBPerson2987
Rescued_by_transgeneWBTransgene00024880
WBTransgene00024879
Variation_effectLoss_of_function_undetermined_extentPaper_evidenceWBPaper00050796
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0006830PATO:0000460Paper_evidenceWBPaper00050796
Curator_confirmedWBPerson2987
GO_termGO:0018991PATO:0000460Paper_evidenceWBPaper00050796
Curator_confirmedWBPerson2987
Phenotype_assayControl_strainWBStrain00000001Paper_evidenceWBPaper00050796
Curator_confirmedWBPerson2987
WBPhenotype:0000630Paper_evidenceWBPaper00013467
WBPaper00035961
Curator_confirmedWBPerson48
WBPerson712
PenetranceCompletePaper_evidenceWBPaper00013467
Curator_confirmedWBPerson48
RecessivePaper_evidenceWBPaper00013467
Curator_confirmedWBPerson48
Variation_effectHypomorph_reduction_of_functionPaper_evidenceWBPaper00013467
Curator_confirmedWBPerson48
Affected_byMoleculeWBMol:00003904Paper_evidenceWBPaper00013467
WBPaper00035961
Curator_confirmedWBPerson48
WBPerson712
WBPhenotype:0001483Paper_evidenceWBPaper00050796
Curator_confirmedWBPerson2987
Remark"Although there was no difference in the brood size between N2 and grk-2 mutants (Fig. 1D), a significant number of the laid eggs were late stage in the grk-2 loss-of-function strains (Fig. 1E)."Paper_evidenceWBPaper00050796
Curator_confirmedWBPerson2987
Variation_effectLoss_of_function_undetermined_extentPaper_evidenceWBPaper00050796
Curator_confirmedWBPerson2987
Phenotype_assayControl_strainWBStrain00000001Paper_evidenceWBPaper00050796
Curator_confirmedWBPerson2987
WBPhenotype:0002357Paper_evidenceWBPaper00050796
Curator_confirmedWBPerson2987
Remark"To quantify 5-HIAA levels, we also used HPLC-EC analysis to measure 5-HIAA in lysates from N2 and grk-2 mutant strains. These studies revealed a ~250-fold increase in 5-HIAA levels in the grk-2 mutants compared with N2 (Fig. 4A). Thus, there appears to be a significant increase in 5-HT metabolism in the grk-2 mutant strains."Paper_evidenceWBPaper00050796
Curator_confirmedWBPerson2987
EQ_annotationsGO_termGO:0042428PATO:0000460Paper_evidenceWBPaper00050796
Curator_confirmedWBPerson2987
Molecule_affectedWBMol:00005472PATO:0002270Paper_evidenceWBPaper00050796
Curator_confirmedWBPerson2987
Phenotype_assayControl_strainWBStrain00000001Paper_evidenceWBPaper00050796
Curator_confirmedWBPerson2987
Phenotype_not_observedWBPhenotype:0000274Paper_evidenceWBPaper00050796
Curator_confirmedWBPerson2987
Remark"Because we did not observe a significant number of unfertilized eggs or dead embryos in the grk-2 mutant strains, this suggests that the sperm capacity and development of embryos are normal in these strains."Paper_evidenceWBPaper00050796
Curator_confirmedWBPerson2987
Variation_effectLoss_of_function_undetermined_extentPaper_evidenceWBPaper00050796
Curator_confirmedWBPerson2987
WBPhenotype:0000357Paper_evidenceWBPaper00050796
Curator_confirmedWBPerson2987
Remark"Because we did not observe a significant number of unfertilized eggs or dead embryos in the grk-2 mutant strains, this suggests that the sperm capacity and development of embryos are normal in these strains."Paper_evidenceWBPaper00050796
Curator_confirmedWBPerson2987
Variation_effectLoss_of_function_undetermined_extentPaper_evidenceWBPaper00050796
Curator_confirmedWBPerson2987
WBPhenotype:0000424Paper_evidenceWBPaper00050796
Curator_confirmedWBPerson2987
Remark"To determine whether there were any changes in 5-HT synthesis, we measured tph-1 expression in N2 and grk-2 mutants by generating transgenic strains expressing GFP using the tph-1 promoter (tph-1::GFP). No differences in tph-1::GFP expression were observed in the N2 and grk-2 mutant strains as assessed by fluorescence (data not shown). We also evaluated TPH-1 using a mammalian Tph1 antibody and found that TPH-1 protein levels are similar in wild type and grk-2 mutants at several developmental stages (Fig. 4B)."Paper_evidenceWBPaper00050796
Curator_confirmedWBPerson2987
WBPhenotype:0000673Paper_evidenceWBPaper00050796
Curator_confirmedWBPerson2987
Remark"Although there was no difference in the brood size between N2 and grk-2 mutants (Fig. 1D), a significant number of the laid eggs were late stage in the grk-2 loss-of-function strains (Fig. 1E)."Paper_evidenceWBPaper00050796
Curator_confirmedWBPerson2987
Variation_effectLoss_of_function_undetermined_extentPaper_evidenceWBPaper00050796
Curator_confirmedWBPerson2987
Phenotype_assayControl_strainWBStrain00000001Paper_evidenceWBPaper00050796
Curator_confirmedWBPerson2987
WBPhenotype:0004026Paper_evidenceWBPaper00013467
Curator_confirmedWBPerson48
Disease_infoModifies_diseaseDOID:12377
Modifies_disease_in_annotationWBDOannot00000887
ReferenceWBPaper00025902
WBPaper00013467
WBPaper00035961
WBPaper00018915
WBPaper00017988
WBPaper00050796
WBPaper00066032
MethodSubstitution_allele