Incidental Mutation 'IGL03389:Gprc5a'
ID 420991
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gprc5a
Ensembl Gene ENSMUSG00000046733
Gene Name G protein-coupled receptor, family C, group 5, member A
Synonyms Gprc5a, Rai3, Raig1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # IGL03389
Quality Score
Status
Chromosome 6
Chromosomal Location 135042660-135061707 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 135060823 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 355 (D355Y)
Ref Sequence ENSEMBL: ENSMUSP00000061062 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050104]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000050104
AA Change: D355Y

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000061062
Gene: ENSMUSG00000046733
AA Change: D355Y

DomainStartEndE-ValueType
Pfam:7tm_3 41 269 2.9e-25 PFAM
Coding Region Coverage
Validation Efficiency
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-coupling receptor family, characterized by the signature 7-transmembrane domain motif. The encoded protein may be involved in interaction between retinoid acid and G protein signalling pathways. Retinoic acid plays a critical role in development, cellular growth, and differentiation. This gene may play a role in embryonic development and epithelial cell differentiation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for one knock-out allele are healthy and exhibit normal lung development and a normal life span. Mice homozygous for a different knock-out allele show a significantly increased incidence of acidophilic macrophage pneumonia and spontaneouslung tumors at 1-2 years of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff3 A T 1: 38,249,430 (GRCm39) V559E possibly damaging Het
Alpk2 G T 18: 65,437,937 (GRCm39) P1619Q possibly damaging Het
Amz1 C A 5: 140,737,782 (GRCm39) F347L probably benign Het
Ank1 T C 8: 23,578,076 (GRCm39) probably null Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Cdc16 A G 8: 13,809,179 (GRCm39) Y48C probably damaging Het
Cfap91 C T 16: 38,144,498 (GRCm39) probably null Het
Cul2 A G 18: 3,431,029 (GRCm39) D538G probably benign Het
Cyp2j13 T A 4: 95,956,558 (GRCm39) I184F probably damaging Het
Cyp4a12b A T 4: 115,291,005 (GRCm39) R344S possibly damaging Het
Dis3 A G 14: 99,332,783 (GRCm39) probably benign Het
Dnah17 T C 11: 117,985,805 (GRCm39) H1424R probably damaging Het
Eef2 A G 10: 81,015,540 (GRCm39) I354V probably benign Het
Elmo1 A G 13: 20,526,596 (GRCm39) D382G probably damaging Het
Epas1 T A 17: 87,131,131 (GRCm39) S304T probably benign Het
Fry A T 5: 150,317,696 (GRCm39) D892V probably damaging Het
Hsd17b7 G A 1: 169,787,320 (GRCm39) T228I probably damaging Het
Ift74 T C 4: 94,510,149 (GRCm39) V60A possibly damaging Het
Insrr A T 3: 87,716,038 (GRCm39) I578F probably damaging Het
Izumo1 T C 7: 45,273,613 (GRCm39) F122S probably damaging Het
Lss G A 10: 76,372,173 (GRCm39) R176H probably damaging Het
Ltb T C 17: 35,414,044 (GRCm39) S61P probably benign Het
Mybphl T C 3: 108,283,034 (GRCm39) V274A probably benign Het
Myo9a T G 9: 59,776,890 (GRCm39) L1096W probably damaging Het
Nlrc5 T A 8: 95,248,102 (GRCm39) L1690H probably damaging Het
Nrap A T 19: 56,340,148 (GRCm39) S790T probably benign Het
Nrcam A G 12: 44,596,689 (GRCm39) D308G probably benign Het
Or10a3 G A 7: 108,479,982 (GRCm39) T277M probably damaging Het
Or1j17 A G 2: 36,578,274 (GRCm39) T87A probably benign Het
Pias2 A G 18: 77,185,354 (GRCm39) D138G probably damaging Het
Prpf4b T C 13: 35,084,439 (GRCm39) probably benign Het
Rapgef3 A G 15: 97,647,397 (GRCm39) S788P probably damaging Het
Slc5a6 T C 5: 31,194,821 (GRCm39) Y525C probably damaging Het
Snx32 T C 19: 5,546,082 (GRCm39) probably benign Het
Tnfaip3 T C 10: 18,880,735 (GRCm39) E444G probably benign Het
Ttc27 T C 17: 75,165,028 (GRCm39) Y745H probably benign Het
Other mutations in Gprc5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0102:Gprc5a UTSW 6 135,056,033 (GRCm39) missense probably damaging 0.98
R0102:Gprc5a UTSW 6 135,056,033 (GRCm39) missense probably damaging 0.98
R0464:Gprc5a UTSW 6 135,056,413 (GRCm39) nonsense probably null
R0709:Gprc5a UTSW 6 135,055,948 (GRCm39) missense probably damaging 1.00
R1455:Gprc5a UTSW 6 135,056,245 (GRCm39) missense probably benign
R1545:Gprc5a UTSW 6 135,060,459 (GRCm39) missense probably damaging 0.98
R1640:Gprc5a UTSW 6 135,055,652 (GRCm39) missense probably damaging 1.00
R1686:Gprc5a UTSW 6 135,055,918 (GRCm39) missense possibly damaging 0.64
R4586:Gprc5a UTSW 6 135,060,450 (GRCm39) missense probably benign 0.01
R4612:Gprc5a UTSW 6 135,055,927 (GRCm39) missense probably damaging 0.98
R5488:Gprc5a UTSW 6 135,055,868 (GRCm39) missense probably damaging 0.96
R6666:Gprc5a UTSW 6 135,056,473 (GRCm39) missense probably benign 0.02
R7757:Gprc5a UTSW 6 135,056,342 (GRCm39) missense possibly damaging 0.78
R9138:Gprc5a UTSW 6 135,056,164 (GRCm39) missense probably damaging 0.97
R9400:Gprc5a UTSW 6 135,055,558 (GRCm39) missense probably benign
Posted On 2016-08-02