Incidental Mutation 'R4297:Gprc5b'
ID 371089
Institutional Source Beutler Lab
Gene Symbol Gprc5b
Ensembl Gene ENSMUSG00000008734
Gene Name G protein-coupled receptor, family C, group 5, member B
Synonyms hypothetical protein, clone 2-63
MMRRC Submission 041085-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.405) question?
Stock # R4297 (G1)
Quality Score 67
Status Validated
Chromosome 7
Chromosomal Location 118571270-118594434 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 118583437 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 144 (A144V)
Ref Sequence ENSEMBL: ENSMUSP00000146777 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008878] [ENSMUST00000208394]
AlphaFold Q923Z0
Predicted Effect probably benign
Transcript: ENSMUST00000008878
AA Change: A144V

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000008878
Gene: ENSMUSG00000008734
AA Change: A144V

DomainStartEndE-ValueType
Pfam:7tm_3 67 294 2e-33 PFAM
low complexity region 360 371 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000208394
AA Change: A144V

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
Meta Mutation Damage Score 0.0728 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 85% (33/39)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the type 3 G protein-coupled receptor family. Members of this superfamily are characterized by a signature 7-transmembrane domain motif. The encoded protein may modulate insulin secretion and increased protein expression is associated with type 2 diabetes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
PHENOTYPE: Mice homozygous for a reporter allele exhibit partial neonatal and postnatal lethality, altered spontaneous activity pattern, and decreased response to a new environment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 T C 8: 87,258,154 (GRCm39) probably null Het
Alkbh3 C T 2: 93,838,469 (GRCm39) R34H probably benign Het
Cacna1e T G 1: 154,274,477 (GRCm39) S2143R probably benign Het
Camkk2 A G 5: 122,883,769 (GRCm39) probably null Het
Cep295 A G 9: 15,233,950 (GRCm39) V2282A probably benign Het
Cfap46 A C 7: 139,232,589 (GRCm39) D827E probably benign Het
Col5a1 T C 2: 27,907,216 (GRCm39) probably null Het
Col6a3 T A 1: 90,739,100 (GRCm39) E376V probably damaging Het
Creld2 T C 15: 88,707,956 (GRCm39) C232R probably damaging Het
Ctdp1 A T 18: 80,493,172 (GRCm39) V441E probably benign Het
Cyp2a4 A G 7: 26,006,793 (GRCm39) T51A probably damaging Het
Dgke A T 11: 88,941,556 (GRCm39) V273D probably damaging Het
Epcam T C 17: 87,947,962 (GRCm39) probably null Het
Fpr-rs3 A T 17: 20,845,008 (GRCm39) N44K probably damaging Het
Glipr1l1 A T 10: 111,898,252 (GRCm39) D119V probably benign Het
Gm6818 A T 7: 38,101,877 (GRCm39) noncoding transcript Het
Gsto2 A C 19: 47,864,935 (GRCm39) E156A possibly damaging Het
Hbb-bs T C 7: 103,475,951 (GRCm39) D122G probably benign Het
Mc5r T C 18: 68,472,378 (GRCm39) F246L probably benign Het
Ncapd3 A G 9: 26,963,623 (GRCm39) N492S probably benign Het
Reln A C 5: 22,125,485 (GRCm39) C2733G probably damaging Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slc6a21 G A 7: 44,937,186 (GRCm39) V239M possibly damaging Het
St3gal2 T C 8: 111,688,991 (GRCm39) M177T probably benign Het
Ttn C A 2: 76,556,607 (GRCm39) G30133C probably damaging Het
Ugt1a8 T C 1: 88,015,826 (GRCm39) S80P probably benign Het
Vax1 G T 19: 59,154,683 (GRCm39) S318* probably null Het
Vcam1 A T 3: 115,910,892 (GRCm39) V502E probably benign Het
Vmn2r12 C A 5: 109,239,830 (GRCm39) M244I probably benign Het
Vps18 T A 2: 119,127,812 (GRCm39) C878* probably null Het
Wdr11 A G 7: 129,226,910 (GRCm39) R791G probably benign Het
Other mutations in Gprc5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01106:Gprc5b APN 7 118,583,084 (GRCm39) missense probably benign
IGL01687:Gprc5b APN 7 118,583,209 (GRCm39) missense possibly damaging 0.67
IGL02937:Gprc5b APN 7 118,583,017 (GRCm39) missense probably benign 0.36
IGL03088:Gprc5b APN 7 118,582,856 (GRCm39) missense probably benign 0.08
IGL03106:Gprc5b APN 7 118,583,416 (GRCm39) missense probably damaging 1.00
IGL03166:Gprc5b APN 7 118,583,222 (GRCm39) missense probably benign 0.20
R0189:Gprc5b UTSW 7 118,582,856 (GRCm39) missense probably benign 0.08
R0588:Gprc5b UTSW 7 118,583,218 (GRCm39) missense probably benign
R1563:Gprc5b UTSW 7 118,582,984 (GRCm39) missense probably benign 0.22
R2126:Gprc5b UTSW 7 118,583,398 (GRCm39) missense probably damaging 1.00
R2842:Gprc5b UTSW 7 118,583,302 (GRCm39) missense possibly damaging 0.93
R3153:Gprc5b UTSW 7 118,575,770 (GRCm39) missense probably damaging 1.00
R3802:Gprc5b UTSW 7 118,582,943 (GRCm39) missense possibly damaging 0.92
R3978:Gprc5b UTSW 7 118,583,354 (GRCm39) missense probably damaging 1.00
R4007:Gprc5b UTSW 7 118,583,437 (GRCm39) missense possibly damaging 0.55
R4183:Gprc5b UTSW 7 118,583,749 (GRCm39) missense probably benign 0.03
R4298:Gprc5b UTSW 7 118,583,437 (GRCm39) missense possibly damaging 0.55
R4299:Gprc5b UTSW 7 118,583,437 (GRCm39) missense possibly damaging 0.55
R5286:Gprc5b UTSW 7 118,582,910 (GRCm39) missense possibly damaging 0.93
R6492:Gprc5b UTSW 7 118,583,800 (GRCm39) missense possibly damaging 0.68
R6606:Gprc5b UTSW 7 118,583,296 (GRCm39) missense probably benign 0.00
R7085:Gprc5b UTSW 7 118,582,855 (GRCm39) missense probably damaging 0.97
R7312:Gprc5b UTSW 7 118,583,482 (GRCm39) missense probably damaging 1.00
R7593:Gprc5b UTSW 7 118,583,492 (GRCm39) missense probably damaging 1.00
R9180:Gprc5b UTSW 7 118,583,542 (GRCm39) missense probably damaging 1.00
R9383:Gprc5b UTSW 7 118,575,761 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAAATCCATGGGCTCGTAGGC -3'
(R):5'- CCTGATCACACTGCTTCTGATG -3'

Sequencing Primer
(F):5'- CGCAGGCTGGCTTCGTG -3'
(R):5'- TCCTAGTGAGACTACCCTTCATCAAG -3'
Posted On 2016-02-16