Incidental Mutation 'R4904:Gprc5c'
ID 378053
Institutional Source Beutler Lab
Gene Symbol Gprc5c
Ensembl Gene ENSMUSG00000051043
Gene Name G protein-coupled receptor, family C, group 5, member C
Synonyms 3200002M13Rik, 1110028I06Rik
MMRRC Submission 042507-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.274) question?
Stock # R4904 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 114741978-114763443 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 114755093 bp (GRCm39)
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] [ENSMUST00000177952] [ENSMUST00000152314]
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 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
Predicted Effect probably benign
Transcript: ENSMUST00000152314
Meta Mutation Damage Score 0.1280 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.1%
Validation Efficiency 94% (82/87)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 T G 4: 129,906,332 (GRCm39) I920S possibly damaging Het
Afap1l1 A G 18: 61,871,786 (GRCm39) I556T probably benign Het
Ankfy1 C A 11: 72,642,931 (GRCm39) H665N probably benign Het
Aqp9 A C 9: 71,069,685 (GRCm39) probably benign Het
Arhgap21 A G 2: 20,854,872 (GRCm39) S1497P probably benign Het
Armc7 A G 11: 115,379,800 (GRCm39) D166G probably damaging Het
Arrdc1 C A 2: 24,816,676 (GRCm39) V167F possibly damaging Het
Col6a3 A T 1: 90,729,164 (GRCm39) I1259N probably damaging Het
Coq8a C T 1: 180,006,168 (GRCm39) R207Q probably damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dcbld1 C T 10: 52,196,066 (GRCm39) Q425* probably null Het
Def8 A G 8: 124,188,219 (GRCm39) N445D probably damaging Het
Dicer1 C T 12: 104,679,325 (GRCm39) V551I probably benign Het
Dst A T 1: 34,208,879 (GRCm39) T800S probably damaging Het
Dtl A T 1: 191,300,457 (GRCm39) C136S probably damaging Het
Duox1 T A 2: 122,151,345 (GRCm39) Y310N probably damaging Het
Duxf1 T A 10: 58,059,309 (GRCm39) R482* probably null Het
Ebf1 T C 11: 44,759,996 (GRCm39) F211S probably damaging Het
Gm44501 A T 17: 40,889,884 (GRCm39) I133F possibly damaging Het
Gm6625 T C 8: 89,873,379 (GRCm39) noncoding transcript Het
Golgb1 A T 16: 36,713,748 (GRCm39) D243V probably damaging Het
Gtf2a1l G A 17: 88,997,471 (GRCm39) probably null Het
Herc2 T C 7: 55,807,234 (GRCm39) F2471L probably damaging Het
Hfe A T 13: 23,892,037 (GRCm39) I109N probably damaging Het
Hrg A G 16: 22,770,000 (GRCm39) E43G probably benign Het
Hspa1a T C 17: 35,189,427 (GRCm39) D492G probably damaging Het
Itgb8 T C 12: 119,134,606 (GRCm39) D487G probably benign Het
Jag1 A G 2: 136,929,062 (GRCm39) V798A probably damaging Het
Kcnq5 A G 1: 21,494,324 (GRCm39) V501A probably damaging Het
Kntc1 T C 5: 123,916,396 (GRCm39) V743A possibly damaging Het
Ly86 G T 13: 37,599,496 (GRCm39) V126F possibly damaging Het
Med26 A T 8: 73,250,691 (GRCm39) L136H probably damaging Het
Mpp3 T C 11: 101,891,413 (GRCm39) D575G probably benign Het
Myoc G A 1: 162,466,994 (GRCm39) M54I probably benign Het
Nlrp1c-ps A G 11: 71,133,454 (GRCm39) noncoding transcript Het
Or10v9 C T 19: 11,833,231 (GRCm39) V29M possibly damaging Het
Or51t4 A G 7: 102,598,272 (GRCm39) Y190C probably damaging Het
Or5v1b A G 17: 37,841,522 (GRCm39) Y218C probably damaging Het
Pak5 A T 2: 135,925,267 (GRCm39) D678E probably benign Het
Pcdhb12 T C 18: 37,570,909 (GRCm39) V685A possibly damaging Het
Pcdhga2 A G 18: 37,802,932 (GRCm39) T259A possibly damaging Het
Pde6a A T 18: 61,398,105 (GRCm39) M702L probably benign Het
Pigq A G 17: 26,150,034 (GRCm39) probably benign Het
Polrmt A G 10: 79,582,385 (GRCm39) M1T probably null Het
Ptch1 A C 13: 63,670,818 (GRCm39) I904S probably damaging Het
Rflnb A T 11: 75,912,964 (GRCm39) C141* probably null Het
Rilpl1 C A 5: 124,652,807 (GRCm39) probably null Het
Rpgrip1 T C 14: 52,358,544 (GRCm39) S217P possibly damaging Het
Rpgrip1 A T 14: 52,397,586 (GRCm39) I1292F probably damaging Het
Sema3a A C 5: 13,631,066 (GRCm39) Y534S probably damaging Het
Sez6 A G 11: 77,866,080 (GRCm39) Y736C probably damaging Het
Shank1 G T 7: 43,983,464 (GRCm39) probably benign Het
Slc45a4 G A 15: 73,458,691 (GRCm39) S294F probably benign Het
Slc9a8 A G 2: 167,313,316 (GRCm39) I393V possibly damaging Het
Sod1 T A 16: 90,019,732 (GRCm39) F46Y probably damaging Het
Sult1b1 T C 5: 87,682,912 (GRCm39) D11G probably benign Het
Syn3 T G 10: 86,302,950 (GRCm39) K68N possibly damaging Het
Taar8c C T 10: 23,977,147 (GRCm39) V222I probably benign Het
Tbx20 T C 9: 24,670,129 (GRCm39) K235E probably damaging Het
Tcaf3 C A 6: 42,570,931 (GRCm39) E274* probably null Het
Tll1 A T 8: 64,523,233 (GRCm39) M493K probably benign Het
Tmem236 T A 2: 14,200,803 (GRCm39) S123T probably benign Het
Trim33 T C 3: 103,238,963 (GRCm39) V647A possibly damaging Het
Tspear T A 10: 77,705,489 (GRCm39) Y296N possibly damaging Het
Vps13d T C 4: 144,882,015 (GRCm39) K1187E probably damaging Het
Xpot C T 10: 121,453,083 (GRCm39) V52I probably benign Het
Zdhhc3 A T 9: 122,929,452 (GRCm39) V61E probably damaging Het
Zfp955a A T 17: 33,461,162 (GRCm39) C323* probably null Het
Other mutations in Gprc5c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01599:Gprc5c APN 11 114,755,078 (GRCm39) missense probably benign 0.01
IGL01762:Gprc5c APN 11 114,754,850 (GRCm39) missense probably benign 0.28
IGL02039:Gprc5c APN 11 114,755,312 (GRCm39) nonsense probably null
R0800:Gprc5c UTSW 11 114,757,537 (GRCm39) missense probably damaging 0.99
R1618:Gprc5c UTSW 11 114,755,220 (GRCm39) missense possibly damaging 0.88
R4198:Gprc5c UTSW 11 114,754,686 (GRCm39) missense probably damaging 1.00
R4807:Gprc5c UTSW 11 114,755,324 (GRCm39) missense probably damaging 0.97
R4846:Gprc5c UTSW 11 114,755,093 (GRCm39) missense possibly damaging 0.92
R4902:Gprc5c UTSW 11 114,755,093 (GRCm39) missense possibly damaging 0.92
R5016:Gprc5c UTSW 11 114,755,093 (GRCm39) missense possibly damaging 0.92
R5048:Gprc5c UTSW 11 114,761,177 (GRCm39) makesense probably null
R5106:Gprc5c UTSW 11 114,755,093 (GRCm39) missense possibly damaging 0.92
R5109:Gprc5c UTSW 11 114,755,093 (GRCm39) missense possibly damaging 0.92
R5173:Gprc5c UTSW 11 114,755,093 (GRCm39) missense possibly damaging 0.92
R5266:Gprc5c UTSW 11 114,755,093 (GRCm39) missense possibly damaging 0.92
R5267:Gprc5c UTSW 11 114,755,093 (GRCm39) missense possibly damaging 0.92
R5475:Gprc5c UTSW 11 114,755,093 (GRCm39) missense possibly damaging 0.92
R5508:Gprc5c UTSW 11 114,755,093 (GRCm39) missense possibly damaging 0.92
R5557:Gprc5c UTSW 11 114,755,093 (GRCm39) missense possibly damaging 0.92
R5562:Gprc5c UTSW 11 114,755,093 (GRCm39) missense possibly damaging 0.92
R5563:Gprc5c UTSW 11 114,755,093 (GRCm39) missense possibly damaging 0.92
R5598:Gprc5c UTSW 11 114,755,093 (GRCm39) missense possibly damaging 0.92
R5599:Gprc5c UTSW 11 114,755,093 (GRCm39) missense possibly damaging 0.92
R5729:Gprc5c UTSW 11 114,755,093 (GRCm39) missense possibly damaging 0.92
R5756:Gprc5c UTSW 11 114,755,093 (GRCm39) missense possibly damaging 0.92
R5792:Gprc5c UTSW 11 114,755,093 (GRCm39) missense possibly damaging 0.92
R5793:Gprc5c UTSW 11 114,755,093 (GRCm39) missense possibly damaging 0.92
R5794:Gprc5c UTSW 11 114,755,093 (GRCm39) missense possibly damaging 0.92
R5817:Gprc5c UTSW 11 114,754,450 (GRCm39) nonsense probably null
R5976:Gprc5c UTSW 11 114,755,313 (GRCm39) missense possibly damaging 0.89
R6151:Gprc5c UTSW 11 114,754,851 (GRCm39) missense probably damaging 1.00
R6617:Gprc5c UTSW 11 114,754,931 (GRCm39) missense probably benign 0.05
R7108:Gprc5c UTSW 11 114,755,108 (GRCm39) missense probably damaging 1.00
R7191:Gprc5c UTSW 11 114,759,443 (GRCm39) missense possibly damaging 0.56
R7796:Gprc5c UTSW 11 114,755,358 (GRCm39) missense probably damaging 0.97
R8543:Gprc5c UTSW 11 114,755,094 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AATGTCAGTGCCGACTCGAC -3'
(R):5'- AAATGCCTTGTTCTCCACAAACATG -3'

Sequencing Primer
(F):5'- GACCATGACCTCTCCGTGTG -3'
(R):5'- TCAGGATGGTCTCATAGCCCAC -3'
Posted On 2016-04-15