Incidental Mutation 'IGL02039:Gprc5c'
ID 184629
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gprc5c
Ensembl Gene ENSMUSG00000051043
Gene Name G protein-coupled receptor, family C, group 5, member C
Synonyms 3200002M13Rik, 1110028I06Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.274) question?
Stock # IGL02039
Quality Score
Status
Chromosome 11
Chromosomal Location 114741978-114763443 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 114755312 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 330 (Q330*)
Ref Sequence ENSEMBL: ENSMUSP00000136702 (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 probably null
Transcript: ENSMUST00000021071
AA Change: Q330*
SMART Domains Protein: ENSMUSP00000021071
Gene: ENSMUSG00000051043
AA Change: Q330*

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:7tm_3 58 302 1.3e-42 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000053361
AA Change: Q330*
SMART Domains Protein: ENSMUSP00000061760
Gene: ENSMUSG00000051043
AA Change: Q330*

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 probably benign
Transcript: ENSMUST00000136785
SMART Domains Protein: ENSMUSP00000116786
Gene: ENSMUSG00000051043

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 null
Transcript: ENSMUST00000177952
AA Change: Q330*
SMART Domains Protein: ENSMUSP00000136702
Gene: ENSMUSG00000051043
AA Change: Q330*

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:7tm_3 58 302 1.3e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152314
Coding Region Coverage
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,247,193 (GRCm39) Y2313* probably null Het
Arhgef12 A G 9: 42,883,563 (GRCm39) I1323T probably benign Het
C87436 A G 6: 86,430,677 (GRCm39) M366V probably benign Het
Cep290 T C 10: 100,350,464 (GRCm39) probably null Het
Cpsf3 T C 12: 21,351,457 (GRCm39) M326T probably damaging Het
Cpxm2 A G 7: 131,649,482 (GRCm39) V64A probably damaging Het
Csnka2ip G A 16: 64,298,957 (GRCm39) S25F probably damaging Het
Cyfip1 T C 7: 55,524,769 (GRCm39) F168L possibly damaging Het
Dhx8 T C 11: 101,654,853 (GRCm39) probably null Het
Dnah2 T A 11: 69,390,038 (GRCm39) I736F probably damaging Het
Erf T C 7: 24,943,969 (GRCm39) E454G possibly damaging Het
Flnc T C 6: 29,450,718 (GRCm39) V1482A probably benign Het
Fmn1 T C 2: 113,195,425 (GRCm39) L375P unknown Het
Foxm1 T C 6: 128,346,323 (GRCm39) Y85H probably damaging Het
Frem3 A G 8: 81,339,600 (GRCm39) E631G probably damaging Het
Fsip1 T C 2: 118,070,895 (GRCm39) D265G probably damaging Het
Grin1 C T 2: 25,195,354 (GRCm39) V246M probably damaging Het
Ifitm3 C A 7: 140,590,563 (GRCm39) probably benign Het
Igdcc3 G A 9: 65,091,162 (GRCm39) V648I probably benign Het
Ighv5-2 A G 12: 113,542,214 (GRCm39) I87T probably benign Het
Imp4 G A 1: 34,482,849 (GRCm39) probably null Het
Ino80 T C 2: 119,210,554 (GRCm39) N1327D probably damaging Het
Kif5a T C 10: 127,069,736 (GRCm39) I830V possibly damaging Het
Muc5b A G 7: 141,424,901 (GRCm39) Y4696C possibly damaging Het
Nrl T C 14: 55,759,567 (GRCm39) E120G probably benign Het
Nsmaf T A 4: 6,424,995 (GRCm39) probably benign Het
Nup35 T C 2: 80,473,119 (GRCm39) M64T probably benign Het
Nxpe2 T A 9: 48,230,959 (GRCm39) N470I probably benign Het
Oga A T 19: 45,762,142 (GRCm39) V237E probably damaging Het
Or12d17 T A 17: 37,777,340 (GRCm39) I81N possibly damaging Het
Or9i1 C T 19: 13,840,083 (GRCm39) Q309* probably null Het
Os9 G A 10: 126,932,160 (GRCm39) P604S possibly damaging Het
Pitpnm1 A G 19: 4,155,032 (GRCm39) T287A probably benign Het
Pkd2l2 G T 18: 34,568,421 (GRCm39) probably null Het
Pola2 A T 19: 5,998,497 (GRCm39) I355N probably damaging Het
Pp2d1 T A 17: 53,823,022 (GRCm39) R15* probably null Het
Prpf40a T C 2: 53,034,815 (GRCm39) D749G probably damaging Het
Rhoh T C 5: 66,049,981 (GRCm39) S84P probably damaging Het
Slc12a7 T C 13: 73,957,213 (GRCm39) probably null Het
Slc37a2 A G 9: 37,144,980 (GRCm39) I454T probably damaging Het
Smarca2 A G 19: 26,693,537 (GRCm39) D28G probably damaging Het
Socs4 T C 14: 47,527,650 (GRCm39) I195T probably benign Het
Svep1 A G 4: 58,123,980 (GRCm39) probably null Het
Thbd T C 2: 148,248,462 (GRCm39) T469A probably benign Het
Thoc5 T C 11: 4,872,027 (GRCm39) probably null Het
Vmn1r173 G T 7: 23,402,321 (GRCm39) M185I probably benign Het
Vmn1r59 T C 7: 5,457,380 (GRCm39) S127G probably benign Het
Vmn2r6 T C 3: 64,463,610 (GRCm39) E408G probably damaging Het
Yars1 A T 4: 129,109,052 (GRCm39) I428F probably damaging Het
Zglp1 T C 9: 20,978,335 (GRCm39) E14G possibly damaging 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
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
R4904: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
Posted On 2014-05-07