Incidental Mutation 'R5378:Gpr180'
ID425713
Institutional Source Beutler Lab
Gene Symbol Gpr180
Ensembl Gene ENSMUSG00000022131
Gene NameG protein-coupled receptor 180
SynonymsITR, E130016I23Rik
MMRRC Submission 042953-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.189) question?
Stock #R5378 (G1)
Quality Score225
Status Not validated
Chromosome14
Chromosomal Location118137158-118163261 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 118139839 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 84 (L84Q)
Ref Sequence ENSEMBL: ENSMUSP00000022728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022728]
Predicted Effect probably benign
Transcript: ENSMUST00000022728
AA Change: L84Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022728
Gene: ENSMUSG00000022131
AA Change: L84Q

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat T A 16: 8,578,277 F39L probably benign Het
Abca2 T G 2: 25,446,068 L2150R probably damaging Het
Apob T A 12: 8,011,865 V3449D probably damaging Het
Arfgef2 T A 2: 166,873,628 V1331D probably damaging Het
Bora A G 14: 99,068,493 N433D probably damaging Het
Cand2 G A 6: 115,801,951 A1159T probably benign Het
Ccser1 C T 6: 61,311,666 A271V probably benign Het
Ccser2 G A 14: 36,879,434 T331I possibly damaging Het
Cemip A G 7: 83,958,525 S758P probably damaging Het
Cenpf C T 1: 189,653,466 V2206I possibly damaging Het
Chrnb1 A T 11: 69,785,181 S412T probably benign Het
Cks1b A C 3: 89,416,301 W54G probably damaging Het
Col5a3 C T 9: 20,797,576 V630M unknown Het
Dnajb14 A G 3: 137,885,378 D30G probably benign Het
Dpp8 T C 9: 65,078,014 Y785H probably damaging Het
Dsel T A 1: 111,862,821 probably benign Het
Dzip1 C T 14: 118,911,393 M291I probably damaging Het
Esp8 G A 17: 40,530,142 C98Y unknown Het
F11 C A 8: 45,252,143 M120I probably benign Het
Fsip2 T C 2: 82,989,841 F5306S possibly damaging Het
Gm4841 T C 18: 60,271,041 probably null Het
Grwd1 A T 7: 45,830,081 D123E probably benign Het
Hsfy2 T C 1: 56,636,668 R237G probably benign Het
Htr5a A G 5: 27,850,995 Y328C probably damaging Het
Klrb1f G A 6: 129,053,831 A127T probably damaging Het
Mcpt4 A T 14: 56,062,293 probably null Het
Muc5b T C 7: 141,862,203 V2962A unknown Het
Olfr1095 A T 2: 86,851,463 N78K probably benign Het
Olfr601 T A 7: 103,358,445 I250F probably damaging Het
Otog A T 7: 46,255,004 T518S probably damaging Het
Phgdh A T 3: 98,321,323 probably null Het
Pip5kl1 A T 2: 32,579,094 T213S probably benign Het
Plekhg2 G A 7: 28,362,669 R594W probably damaging Het
Prg4 T A 1: 150,455,226 probably benign Het
Prpf40a T A 2: 53,145,876 D621V probably damaging Het
Ptprz1 A T 6: 23,007,402 I1655F probably damaging Het
Rbm28 T C 6: 29,128,559 K55E probably damaging Het
Rbm43 A T 2: 51,925,621 V196E probably damaging Het
Rufy4 T C 1: 74,147,663 C537R probably damaging Het
Serinc4 T A 2: 121,452,380 M434L possibly damaging Het
Slc22a30 G A 19: 8,344,393 Q436* probably null Het
Slc35f1 A T 10: 52,691,061 H22L possibly damaging Het
Smg6 A G 11: 75,041,994 D98G possibly damaging Het
Strbp A G 2: 37,599,174 Y527H probably damaging Het
Strbp A G 2: 37,600,806 V479A probably benign Het
Tcrg-C2 T C 13: 19,305,127 Y145C unknown Het
Tdg G T 10: 82,641,471 V119L probably benign Het
Trav10d G A 14: 52,811,368 R72H probably benign Het
Trim25 T C 11: 89,009,267 L280P probably damaging Het
Tsc22d4 A G 5: 137,762,464 D49G probably damaging Het
Ttn T C 2: 76,890,190 probably benign Het
Tyr T A 7: 87,472,495 H363L probably damaging Het
Ubr5 A G 15: 37,989,578 S2020P probably damaging Het
Usp9y T C Y: 1,315,928 D2069G probably damaging Het
Vmn1r170 T C 7: 23,606,538 W122R probably benign Het
Wdr7 G A 18: 63,825,239 probably null Het
Ylpm1 T A 12: 85,030,255 H793Q probably damaging Het
Zadh2 G A 18: 84,094,678 A160T probably damaging Het
Zfp266 G A 9: 20,499,363 T506I probably damaging Het
Zfp518a T C 19: 40,915,856 S1410P probably damaging Het
Other mutations in Gpr180
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02212:Gpr180 APN 14 118160176 missense probably damaging 1.00
IGL02449:Gpr180 APN 14 118160120 missense probably damaging 1.00
IGL02740:Gpr180 APN 14 118139749 missense probably damaging 1.00
IGL03103:Gpr180 APN 14 118139763 missense possibly damaging 0.95
R0321:Gpr180 UTSW 14 118148287 critical splice donor site probably null
R0545:Gpr180 UTSW 14 118160046 missense possibly damaging 0.77
R0688:Gpr180 UTSW 14 118148184 missense probably benign 0.00
R0844:Gpr180 UTSW 14 118157947 missense probably damaging 1.00
R2566:Gpr180 UTSW 14 118139773 missense probably benign 0.06
R5334:Gpr180 UTSW 14 118160056 missense probably damaging 0.99
R5583:Gpr180 UTSW 14 118162698 missense probably damaging 1.00
R6081:Gpr180 UTSW 14 118153674 missense probably benign 0.02
R6851:Gpr180 UTSW 14 118153625 missense probably damaging 1.00
R7382:Gpr180 UTSW 14 118162623 missense possibly damaging 0.63
Predicted Primers PCR Primer
(F):5'- TACAAAAGCCCCGTACTGCG -3'
(R):5'- CGTGGCTGTAAACAGAGTAACC -3'

Sequencing Primer
(F):5'- CGGTGCGCAGTGTGGAG -3'
(R):5'- GGCAGTTACATGTATGCAGTCAC -3'
Posted On2016-08-04