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)
|
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
Domain | Start | End | E-Value | Type |
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 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |