Incidental Mutation 'IGL01599:Gprc5c'
ID 92026
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
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.302) question?
Stock # IGL01599
Quality Score
Status
Chromosome 11
Chromosomal Location 114851152-114872617 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 114864252 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 252 (I252V)
Ref Sequence ENSEMBL: ENSMUSP00000116786 (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 probably benign
Transcript: ENSMUST00000021071
AA Change: I252V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021071
Gene: ENSMUSG00000051043
AA Change: I252V

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:7tm_3 58 302 1.3e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000053361
AA Change: I252V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000061760
Gene: ENSMUSG00000051043
AA Change: I252V

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
AA Change: I252V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000116786
Gene: ENSMUSG00000051043
AA Change: I252V

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 probably benign
Transcript: ENSMUST00000177952
AA Change: I252V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000136702
Gene: ENSMUSG00000051043
AA Change: I252V

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:7tm_3 58 302 1.3e-42 PFAM
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr3 T C 1: 90,214,134 V105A probably benign Het
Acr T C 15: 89,568,414 V18A probably benign Het
Adgra2 G A 8: 27,118,733 A540T possibly damaging Het
Aldh16a1 A G 7: 45,142,093 F753L probably damaging Het
Ankfy1 T A 11: 72,738,365 Y338N probably benign Het
Aox3 C T 1: 58,169,794 R829C probably damaging Het
Arhgef11 T C 3: 87,737,046 S1535P probably benign Het
C4b A G 17: 34,743,019 probably benign Het
Ccdc157 A G 11: 4,148,781 C242R probably damaging Het
Cep135 T A 5: 76,593,347 M90K possibly damaging Het
Cfap36 A T 11: 29,244,057 probably null Het
Chl1 A G 6: 103,708,484 T829A probably benign Het
Copb2 T C 9: 98,581,150 S473P probably damaging Het
Cpb1 C T 3: 20,251,954 probably null Het
Cpsf1 A G 15: 76,596,541 L1295P probably damaging Het
Dmp1 C T 5: 104,212,462 Q335* probably null Het
Dyrk1a T A 16: 94,691,884 S621T possibly damaging Het
Exoc5 T A 14: 49,034,964 Q331L probably benign Het
Fmnl1 G A 11: 103,186,656 V287M probably damaging Het
Fras1 T C 5: 96,709,891 S2015P possibly damaging Het
Gm7052 T C 17: 22,040,004 probably benign Het
Ints3 C T 3: 90,394,322 probably null Het
L1td1 A G 4: 98,737,344 D592G probably damaging Het
Lamb3 A G 1: 193,343,412 M1137V probably benign Het
Leng8 C A 7: 4,145,482 A751E probably benign Het
Lfng T C 5: 140,612,535 V204A probably damaging Het
Lsm14b A G 2: 180,032,603 D233G probably damaging Het
Map4 C T 9: 110,034,768 P354S probably benign Het
Mapt G A 11: 104,294,915 V53M probably damaging Het
Mier1 T G 4: 103,155,541 S377A possibly damaging Het
Neurog1 T C 13: 56,251,847 D29G probably damaging Het
Npr3 G A 15: 11,895,789 A257V probably damaging Het
Nup188 T C 2: 30,327,525 V824A possibly damaging Het
Olfm4 T C 14: 80,021,310 S333P probably damaging Het
Olfr460 A C 6: 40,572,252 I289L probably damaging Het
Olfr849 T G 9: 19,441,815 F301V probably benign Het
Pbxip1 C A 3: 89,443,590 probably benign Het
Pde9a G T 17: 31,414,150 C38F probably damaging Het
Plb1 A T 5: 32,342,544 probably benign Het
Plcz1 T C 6: 140,002,256 probably benign Het
Plxnb1 T C 9: 109,110,604 V1447A probably damaging Het
Pnldc1 A T 17: 12,906,528 M73K probably benign Het
Psg20 C T 7: 18,681,038 V311M possibly damaging Het
Psmd2 G T 16: 20,659,405 probably null Het
Rabgap1 T C 2: 37,556,269 V859A probably damaging Het
Rad51b T A 12: 79,327,228 S194T probably benign Het
Rb1cc1 C T 1: 6,248,771 Q788* probably null Het
Ror2 C T 13: 53,111,617 G468R probably damaging Het
Slamf7 A G 1: 171,641,186 I46T possibly damaging Het
Stab2 A G 10: 86,922,895 S1060P probably damaging Het
Syndig1 T A 2: 150,003,283 V242E probably damaging Het
Tgfbr3 G A 5: 107,118,451 T801M probably damaging Het
Tmem132c T C 5: 127,359,552 probably benign Het
Trav21-dv12 T C 14: 53,876,731 Y103H probably damaging Het
Ubr3 T C 2: 69,938,178 V443A probably damaging Het
Uhrf2 G T 19: 30,092,120 C749F probably damaging Het
Ulk2 G T 11: 61,791,436 S751* probably null Het
Wrn G A 8: 33,241,011 P1098S possibly damaging Het
Xrcc5 T C 1: 72,346,349 V533A possibly damaging Het
Zc3h13 T C 14: 75,309,723 S223P probably damaging Het
Zcchc11 T C 4: 108,513,399 S871P possibly damaging Het
Other mutations in Gprc5c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01762:Gprc5c APN 11 114864024 missense probably benign 0.28
IGL02039:Gprc5c APN 11 114864486 nonsense probably null
R0800:Gprc5c UTSW 11 114866711 missense probably damaging 0.99
R1618:Gprc5c UTSW 11 114864394 missense possibly damaging 0.88
R4198:Gprc5c UTSW 11 114863860 missense probably damaging 1.00
R4807:Gprc5c UTSW 11 114864498 missense probably damaging 0.97
R4846:Gprc5c UTSW 11 114864267 missense possibly damaging 0.92
R4902:Gprc5c UTSW 11 114864267 missense possibly damaging 0.92
R4904:Gprc5c UTSW 11 114864267 missense possibly damaging 0.92
R5016:Gprc5c UTSW 11 114864267 missense possibly damaging 0.92
R5048:Gprc5c UTSW 11 114870351 makesense probably null
R5106:Gprc5c UTSW 11 114864267 missense possibly damaging 0.92
R5109:Gprc5c UTSW 11 114864267 missense possibly damaging 0.92
R5173:Gprc5c UTSW 11 114864267 missense possibly damaging 0.92
R5266:Gprc5c UTSW 11 114864267 missense possibly damaging 0.92
R5267:Gprc5c UTSW 11 114864267 missense possibly damaging 0.92
R5475:Gprc5c UTSW 11 114864267 missense possibly damaging 0.92
R5508:Gprc5c UTSW 11 114864267 missense possibly damaging 0.92
R5557:Gprc5c UTSW 11 114864267 missense possibly damaging 0.92
R5562:Gprc5c UTSW 11 114864267 missense possibly damaging 0.92
R5563:Gprc5c UTSW 11 114864267 missense possibly damaging 0.92
R5598:Gprc5c UTSW 11 114864267 missense possibly damaging 0.92
R5599:Gprc5c UTSW 11 114864267 missense possibly damaging 0.92
R5729:Gprc5c UTSW 11 114864267 missense possibly damaging 0.92
R5756:Gprc5c UTSW 11 114864267 missense possibly damaging 0.92
R5792:Gprc5c UTSW 11 114864267 missense possibly damaging 0.92
R5793:Gprc5c UTSW 11 114864267 missense possibly damaging 0.92
R5794:Gprc5c UTSW 11 114864267 missense possibly damaging 0.92
R5817:Gprc5c UTSW 11 114863624 nonsense probably null
R5976:Gprc5c UTSW 11 114864487 missense possibly damaging 0.89
R6151:Gprc5c UTSW 11 114864025 missense probably damaging 1.00
R6617:Gprc5c UTSW 11 114864105 missense probably benign 0.05
R7108:Gprc5c UTSW 11 114864282 missense probably damaging 1.00
R7191:Gprc5c UTSW 11 114868617 missense possibly damaging 0.56
R7796:Gprc5c UTSW 11 114864532 missense probably damaging 0.97
R8543:Gprc5c UTSW 11 114864268 missense probably damaging 1.00
Posted On 2013-12-09