Incidental Mutation 'R0844:Gpr180'
ID 77305
Institutional Source Beutler Lab
Gene Symbol Gpr180
Ensembl Gene ENSMUSG00000022131
Gene Name G protein-coupled receptor 180
Synonyms ITR, E130016I23Rik
MMRRC Submission 039023-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R0844 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 118374570-118400673 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 118395359 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 264 (C264R)
Ref Sequence ENSEMBL: ENSMUSP00000022728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022728]
AlphaFold Q8BPS4
Predicted Effect probably damaging
Transcript: ENSMUST00000022728
AA Change: C264R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022728
Gene: ENSMUSG00000022131
AA Change: C264R

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Lung_7-TM_R 132 418 2.1e-12 PFAM
Pfam:GpcrRhopsn4 142 406 6.1e-88 PFAM
low complexity region 419 433 N/A INTRINSIC
Meta Mutation Damage Score 0.7010 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 95.8%
Validation Efficiency 100% (27/27)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a member of the G protein-coupled receptor superfamily. This protein is produced predominantly in vascular smooth muscle cells and may play an important role in the regulation of vascular remodeling. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are resistant to cuff-induced intimal thickening of the femoral artery. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik T C 12: 55,126,858 (GRCm39) D2G possibly damaging Het
Abca5 T C 11: 110,210,658 (GRCm39) T174A probably benign Het
Asb2 T C 12: 103,291,805 (GRCm39) H374R probably damaging Het
Clca4b A G 3: 144,622,532 (GRCm39) I511T probably damaging Het
Cnmd G A 14: 79,879,391 (GRCm39) T249I probably benign Het
Cyp4a12b T G 4: 115,289,721 (GRCm39) M196R possibly damaging Het
Ddx60 T C 8: 62,440,395 (GRCm39) Y1016H probably benign Het
Elapor1 T C 3: 108,388,279 (GRCm39) probably benign Het
Ero1a A G 14: 45,530,457 (GRCm39) L325P probably damaging Het
Etv1 T C 12: 38,911,353 (GRCm39) L393P probably damaging Het
Fdx1 G T 9: 51,859,909 (GRCm39) D33E probably damaging Het
Grik2 A T 10: 48,977,211 (GRCm39) M907K possibly damaging Het
Itga10 C T 3: 96,559,054 (GRCm39) probably benign Het
Klrh1 C G 6: 129,752,756 (GRCm39) K16N possibly damaging Het
Mpdz A G 4: 81,339,431 (GRCm39) probably benign Het
Myo9b C T 8: 71,743,119 (GRCm39) S60L probably benign Het
Naxe A T 3: 87,965,715 (GRCm39) V28E probably benign Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Otog T C 7: 45,937,252 (GRCm39) S1654P possibly damaging Het
Setd1b C T 5: 123,298,748 (GRCm39) probably benign Het
Spag17 A G 3: 99,912,101 (GRCm39) T324A probably benign Het
Sucla2 C T 14: 73,798,074 (GRCm39) probably benign Het
Tbc1d12 G T 19: 38,825,515 (GRCm39) R122L probably benign Het
Tmx4 A G 2: 134,441,928 (GRCm39) probably null Het
Trnt1 A G 6: 106,751,464 (GRCm39) D147G probably damaging Het
Trpm7 A T 2: 126,677,428 (GRCm39) V463E probably damaging Het
Wdr82 G A 9: 106,065,780 (GRCm39) probably benign Het
Other mutations in Gpr180
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02212:Gpr180 APN 14 118,397,588 (GRCm39) missense probably damaging 1.00
IGL02449:Gpr180 APN 14 118,397,532 (GRCm39) missense probably damaging 1.00
IGL02740:Gpr180 APN 14 118,377,161 (GRCm39) missense probably damaging 1.00
IGL03103:Gpr180 APN 14 118,377,175 (GRCm39) missense possibly damaging 0.95
R0321:Gpr180 UTSW 14 118,385,699 (GRCm39) critical splice donor site probably null
R0545:Gpr180 UTSW 14 118,397,458 (GRCm39) missense possibly damaging 0.77
R0688:Gpr180 UTSW 14 118,385,596 (GRCm39) missense probably benign 0.00
R2566:Gpr180 UTSW 14 118,377,185 (GRCm39) missense probably benign 0.06
R5334:Gpr180 UTSW 14 118,397,468 (GRCm39) missense probably damaging 0.99
R5378:Gpr180 UTSW 14 118,377,251 (GRCm39) missense probably benign
R5583:Gpr180 UTSW 14 118,400,110 (GRCm39) missense probably damaging 1.00
R6081:Gpr180 UTSW 14 118,391,086 (GRCm39) missense probably benign 0.02
R6851:Gpr180 UTSW 14 118,391,037 (GRCm39) missense probably damaging 1.00
R7382:Gpr180 UTSW 14 118,400,035 (GRCm39) missense possibly damaging 0.63
R7798:Gpr180 UTSW 14 118,391,098 (GRCm39) missense probably damaging 1.00
R8159:Gpr180 UTSW 14 118,391,302 (GRCm39) missense probably damaging 1.00
R8950:Gpr180 UTSW 14 118,395,452 (GRCm39) missense probably benign 0.24
R9068:Gpr180 UTSW 14 118,385,658 (GRCm39) nonsense probably null
R9231:Gpr180 UTSW 14 118,395,455 (GRCm39) missense probably damaging 1.00
R9696:Gpr180 UTSW 14 118,391,302 (GRCm39) missense probably damaging 1.00
R9697:Gpr180 UTSW 14 118,391,302 (GRCm39) missense probably damaging 1.00
R9698:Gpr180 UTSW 14 118,391,302 (GRCm39) missense probably damaging 1.00
R9701:Gpr180 UTSW 14 118,391,302 (GRCm39) missense probably damaging 1.00
Z1177:Gpr180 UTSW 14 118,385,613 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TGCAGCTCGTCATTTGTCACTAGG -3'
(R):5'- TGCAGTTTAACTCCACACTTCCACG -3'

Sequencing Primer
(F):5'- tgtgtgtgtgtgtgtctgtATTAG -3'
(R):5'- TCCACGGTCCTCCTGGC -3'
Posted On 2013-10-16