Incidental Mutation 'R5794:Gprc5c'
ID 447132
Institutional Source Beutler Lab
Gene Symbol Gprc5c
Ensembl Gene ENSMUSG00000051043
Gene Name G protein-coupled receptor, family C, group 5, member C
Synonyms
MMRRC Submission 043385-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.431) question?
Stock # R5794 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 114851152-114872617 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 114864267 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 257 (V257L)
Ref Sequence ENSEMBL: ENSMUSP00000061760 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021071] [ENSMUST00000053361] [ENSMUST00000122967] [ENSMUST00000133245] [ENSMUST00000136785] [ENSMUST00000142262] [ENSMUST00000152314] [ENSMUST00000177952]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000021071
AA Change: V257L

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000021071
Gene: ENSMUSG00000051043
AA Change: V257L

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:7tm_3 58 302 1.3e-42 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000053361
AA Change: V257L

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000061760
Gene: ENSMUSG00000051043
AA Change: V257L

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:7tm_3 60 301 1.3e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000122967
SMART Domains Protein: ENSMUSP00000114335
Gene: ENSMUSG00000051043

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
transmembrane domain 55 77 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000133245
SMART Domains Protein: ENSMUSP00000121572
Gene: ENSMUSG00000051043

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
transmembrane domain 55 77 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000136785
AA Change: V257L

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000116786
Gene: ENSMUSG00000051043
AA Change: V257L

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:7tm_3 58 283 1.5e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142262
SMART Domains Protein: ENSMUSP00000121524
Gene: ENSMUSG00000051043

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:7tm_3 58 133 6.2e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152314
Predicted Effect possibly damaging
Transcript: ENSMUST00000177952
AA Change: V257L

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000136702
Gene: ENSMUSG00000051043
AA Change: V257L

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:7tm_3 58 302 1.3e-42 PFAM
Meta Mutation Damage Score 0.1280 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is 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 specific function of this protein is unknown; however, this protein may mediate the cellular effects of retinoic acid on the G protein signal transduction cascade. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a reporter allele are behaviorally normal but exhibit reticulocytosis, increased mean corpuscular volume, increased percentage of basophils, decreased mean corpuscular hemogloblin concentration, and increased alkaline phophatase and lactic dehydrogenase levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aftph T C 11: 20,726,955 (GRCm38) probably null Het
Ank2 T C 3: 126,930,020 (GRCm38) N923S probably benign Het
Ano6 A T 15: 95,894,524 (GRCm38) T76S probably benign Het
Carmil1 G T 13: 24,092,550 (GRCm38) N204K probably damaging Het
Cep126 T G 9: 8,103,439 (GRCm38) N190T possibly damaging Het
Clasrp A T 7: 19,591,109 (GRCm38) D198E probably damaging Het
Cma1 T C 14: 55,944,520 (GRCm38) T18A probably benign Het
Ece1 A G 4: 137,956,533 (GRCm38) I565M probably damaging Het
Etl4 T A 2: 20,806,512 (GRCm38) F1135L probably damaging Het
Fbxw20 T C 9: 109,223,290 (GRCm38) N325S probably damaging Het
Fbxw20 A T 9: 109,233,600 (GRCm38) C53S possibly damaging Het
Gnb2 T C 5: 137,528,699 (GRCm38) D203G probably benign Het
Hoxd9 T A 2: 74,699,273 (GRCm38) F291Y probably damaging Het
Igf2r T C 17: 12,709,445 (GRCm38) S1004G probably benign Het
Irgm1 T C 11: 48,866,237 (GRCm38) Y249C probably damaging Het
Kcnh3 A C 15: 99,232,974 (GRCm38) I491L probably benign Het
Kctd10 G A 5: 114,367,337 (GRCm38) R199W probably damaging Het
Klk1b4 A T 7: 44,209,645 (GRCm38) N29I probably damaging Het
Klrc1 C T 6: 129,675,354 (GRCm38) R188Q probably damaging Het
Krt32 C A 11: 100,084,986 (GRCm38) C275F probably damaging Het
Krt73 T A 15: 101,794,829 (GRCm38) T449S probably benign Het
Napepld T A 5: 21,683,431 (GRCm38) S7C possibly damaging Het
Nfia G T 4: 97,783,601 (GRCm38) V183L possibly damaging Het
Olfr788 A C 10: 129,473,426 (GRCm38) I245L possibly damaging Het
Olfr996 T C 2: 85,579,341 (GRCm38) V34A probably benign Het
Psma3 A G 12: 70,990,497 (GRCm38) T111A probably benign Het
Psmd11 T A 11: 80,471,492 (GRCm38) D125E probably benign Het
Rabgap1 T A 2: 37,502,902 (GRCm38) D523E probably benign Het
Rttn G T 18: 88,995,569 (GRCm38) R454L probably benign Het
Serpine2 T C 1: 79,821,439 (GRCm38) N33D probably benign Het
Six4 A T 12: 73,112,350 (GRCm38) S271T possibly damaging Het
Smoc2 T A 17: 14,369,048 (GRCm38) C260S possibly damaging Het
Snai2 A T 16: 14,706,726 (GRCm38) Y32F probably benign Het
Tapt1 C T 5: 44,177,134 (GRCm38) G505D probably benign Het
Thap12 T A 7: 98,716,393 (GRCm38) D589E probably benign Het
Ttc23l G T 15: 10,551,550 (GRCm38) T30K possibly damaging Het
Vmn2r116 T C 17: 23,385,968 (GRCm38) I85T probably damaging Het
Zfp592 G T 7: 81,025,033 (GRCm38) V582L probably benign Het
Zfp827 T C 8: 79,070,442 (GRCm38) W386R probably damaging Het
Other mutations in Gprc5c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01599:Gprc5c APN 11 114,864,252 (GRCm38) missense probably benign 0.01
IGL01762:Gprc5c APN 11 114,864,024 (GRCm38) missense probably benign 0.28
IGL02039:Gprc5c APN 11 114,864,486 (GRCm38) nonsense probably null
R0800:Gprc5c UTSW 11 114,866,711 (GRCm38) missense probably damaging 0.99
R1618:Gprc5c UTSW 11 114,864,394 (GRCm38) missense possibly damaging 0.88
R4198:Gprc5c UTSW 11 114,863,860 (GRCm38) missense probably damaging 1.00
R4807:Gprc5c UTSW 11 114,864,498 (GRCm38) missense probably damaging 0.97
R4846:Gprc5c UTSW 11 114,864,267 (GRCm38) missense possibly damaging 0.92
R4902:Gprc5c UTSW 11 114,864,267 (GRCm38) missense possibly damaging 0.92
R4904:Gprc5c UTSW 11 114,864,267 (GRCm38) missense possibly damaging 0.92
R5016:Gprc5c UTSW 11 114,864,267 (GRCm38) missense possibly damaging 0.92
R5048:Gprc5c UTSW 11 114,870,351 (GRCm38) makesense probably null
R5106:Gprc5c UTSW 11 114,864,267 (GRCm38) missense possibly damaging 0.92
R5109:Gprc5c UTSW 11 114,864,267 (GRCm38) missense possibly damaging 0.92
R5173:Gprc5c UTSW 11 114,864,267 (GRCm38) missense possibly damaging 0.92
R5266:Gprc5c UTSW 11 114,864,267 (GRCm38) missense possibly damaging 0.92
R5267:Gprc5c UTSW 11 114,864,267 (GRCm38) missense possibly damaging 0.92
R5475:Gprc5c UTSW 11 114,864,267 (GRCm38) missense possibly damaging 0.92
R5508:Gprc5c UTSW 11 114,864,267 (GRCm38) missense possibly damaging 0.92
R5557:Gprc5c UTSW 11 114,864,267 (GRCm38) missense possibly damaging 0.92
R5562:Gprc5c UTSW 11 114,864,267 (GRCm38) missense possibly damaging 0.92
R5563:Gprc5c UTSW 11 114,864,267 (GRCm38) missense possibly damaging 0.92
R5598:Gprc5c UTSW 11 114,864,267 (GRCm38) missense possibly damaging 0.92
R5599:Gprc5c UTSW 11 114,864,267 (GRCm38) missense possibly damaging 0.92
R5729:Gprc5c UTSW 11 114,864,267 (GRCm38) missense possibly damaging 0.92
R5756:Gprc5c UTSW 11 114,864,267 (GRCm38) missense possibly damaging 0.92
R5792:Gprc5c UTSW 11 114,864,267 (GRCm38) missense possibly damaging 0.92
R5793:Gprc5c UTSW 11 114,864,267 (GRCm38) missense possibly damaging 0.92
R5817:Gprc5c UTSW 11 114,863,624 (GRCm38) nonsense probably null
R5976:Gprc5c UTSW 11 114,864,487 (GRCm38) missense possibly damaging 0.89
R6151:Gprc5c UTSW 11 114,864,025 (GRCm38) missense probably damaging 1.00
R6617:Gprc5c UTSW 11 114,864,105 (GRCm38) missense probably benign 0.05
R7108:Gprc5c UTSW 11 114,864,282 (GRCm38) missense probably damaging 1.00
R7191:Gprc5c UTSW 11 114,868,617 (GRCm38) missense possibly damaging 0.56
R7796:Gprc5c UTSW 11 114,864,532 (GRCm38) missense probably damaging 0.97
R8543:Gprc5c UTSW 11 114,864,268 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AATGTCAGTGCCGACTCGAC -3'
(R):5'- AGGATGGTCTCATAGCCCAC -3'

Sequencing Primer
(F):5'- GACCATGACCTCTCCGTGTG -3'
(R):5'- GGGTACATGTCCCCCTGGTAG -3'
Posted On 2016-12-15