Incidental Mutation 'IGL01810:Gpr182'
ID155790
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpr182
Ensembl Gene ENSMUSG00000058396
Gene NameG protein-coupled receptor 182
SynonymsG10-D, NOW, Gpcr22, Admr, Gpcr17, AM-R
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01810
Quality Score
Status
Chromosome10
Chromosomal Location127747276-127751732 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 127750864 bp
ZygosityHeterozygous
Amino Acid Change Valine to Phenylalanine at position 73 (V73F)
Ref Sequence ENSEMBL: ENSMUSP00000100882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054287] [ENSMUST00000079692]
Predicted Effect probably benign
Transcript: ENSMUST00000054287
SMART Domains Protein: ENSMUSP00000052717
Gene: ENSMUSG00000044617

DomainStartEndE-ValueType
BTB 30 126 9.15e-24 SMART
low complexity region 197 206 N/A INTRINSIC
low complexity region 213 229 N/A INTRINSIC
ZnF_C2H2 372 394 6.4e0 SMART
ZnF_C2H2 400 420 3.21e1 SMART
ZnF_C2H2 451 474 9.31e1 SMART
ZnF_C2H2 480 502 6.92e0 SMART
ZnF_C2H2 508 530 1.79e-2 SMART
ZnF_C2H2 538 560 1.18e-2 SMART
ZnF_C2H2 605 627 2.57e-3 SMART
ZnF_C2H2 633 655 3.78e-1 SMART
ZnF_C2H2 661 683 2.49e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000079692
AA Change: V73F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100882
Gene: ENSMUSG00000058396
AA Change: V73F

DomainStartEndE-ValueType
Pfam:7tm_1 66 316 1.2e-40 PFAM
low complexity region 340 352 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Adrenomedullin is a potent vasodilator peptide that exerts major effects on cardiovascular function. This gene encodes a seven-transmembrane protein that belongs to the family 1 of G-protein coupled receptors. Studies of the rat counterpart suggest that the encoded protein may function as a receptor for adrenomedullin. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 G T 11: 101,417,359 Y10* probably null Het
Aass C A 6: 23,107,634 Q383H probably damaging Het
Bag1 T C 4: 40,936,657 D333G probably damaging Het
Cap2 A G 13: 46,639,949 probably benign Het
Col27a1 G T 4: 63,225,631 A519S probably benign Het
Cr2 A G 1: 195,159,595 V726A possibly damaging Het
Csmd2 A G 4: 128,480,845 probably benign Het
Dennd4c A G 4: 86,799,551 D595G possibly damaging Het
Ercc2 G T 7: 19,393,449 R340L probably damaging Het
Espl1 A G 15: 102,298,205 T35A probably benign Het
Fndc3a A G 14: 72,566,141 Y525H probably benign Het
Gm4922 T C 10: 18,784,047 Q309R probably benign Het
Gm5263 T C 1: 146,420,554 noncoding transcript Het
Gm6563 A C 19: 23,676,387 R180S probably damaging Het
Gramd1b C T 9: 40,315,773 R179H probably damaging Het
Hk1 C T 10: 62,353,105 A10T probably benign Het
Hmgn3 C A 9: 83,110,384 probably benign Het
Il1b C T 2: 129,369,729 E24K probably damaging Het
Itgb6 G T 2: 60,627,985 Q475K probably benign Het
Lrrc74b A G 16: 17,545,558 S368P probably benign Het
Mfsd2b T C 12: 4,866,469 T234A possibly damaging Het
Muc6 A T 7: 141,651,062 Y270N probably damaging Het
Naip6 A G 13: 100,288,095 probably benign Het
Olfr142 A T 2: 90,252,132 Y285* probably null Het
Pear1 G A 3: 87,752,301 T742I probably damaging Het
Peli2 G A 14: 48,256,034 V238I probably benign Het
Pira2 A G 7: 3,844,612 L26P probably damaging Het
Pot1b A G 17: 55,662,521 V549A possibly damaging Het
Prdm16 T C 4: 154,347,927 Y295C probably benign Het
Ptprd A T 4: 76,140,507 probably benign Het
Rap1gap A T 4: 137,716,155 M145L probably benign Het
Setd7 A T 3: 51,532,967 probably benign Het
Ssx2ip T C 3: 146,428,010 I258T probably benign Het
Stard9 T C 2: 120,699,084 Y1941H possibly damaging Het
Stxbp3 T C 3: 108,800,152 E420G probably benign Het
Tpra1 T C 6: 88,909,342 V101A probably damaging Het
Tpx2 G T 2: 152,884,235 Q373H probably damaging Het
Ttn C T 2: 76,727,008 R29914Q probably damaging Het
Ubr3 T C 2: 70,003,465 probably null Het
Usp18 G A 6: 121,253,771 G53D probably damaging Het
Vps13c A T 9: 67,955,780 H3026L probably benign Het
Zan T C 5: 137,463,626 E1097G unknown Het
Other mutations in Gpr182
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00961:Gpr182 APN 10 127750690 missense probably benign 0.09
IGL00983:Gpr182 APN 10 127750788 missense possibly damaging 0.89
IGL01337:Gpr182 APN 10 127750786 missense possibly damaging 0.95
R0449:Gpr182 UTSW 10 127750696 missense probably damaging 1.00
R0554:Gpr182 UTSW 10 127751071 missense probably benign 0.00
R2229:Gpr182 UTSW 10 127750141 missense possibly damaging 0.91
R2292:Gpr182 UTSW 10 127750182 missense possibly damaging 0.89
R2349:Gpr182 UTSW 10 127750937 missense probably damaging 1.00
R2445:Gpr182 UTSW 10 127750627 missense probably benign 0.01
R5977:Gpr182 UTSW 10 127750879 missense possibly damaging 0.79
R6290:Gpr182 UTSW 10 127751024 missense probably benign 0.00
R6415:Gpr182 UTSW 10 127750506 missense possibly damaging 0.88
Posted On2014-02-04