Incidental Mutation 'R6081:Gpr180'
ID |
482927 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpr180
|
Ensembl Gene |
ENSMUSG00000022131 |
Gene Name |
G protein-coupled receptor 180 |
Synonyms |
ITR, E130016I23Rik |
MMRRC Submission |
044240-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R6081 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
118374570-118400673 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 118391086 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 205
(T205I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022728
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022728]
|
AlphaFold |
Q8BPS4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022728
AA Change: T205I
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000022728 Gene: ENSMUSG00000022131 AA Change: T205I
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
A |
T |
5: 109,887,097 (GRCm39) |
M33K |
probably damaging |
Het |
4930556J24Rik |
T |
C |
11: 3,888,140 (GRCm39) |
Q82R |
unknown |
Het |
Adcy9 |
T |
C |
16: 4,112,545 (GRCm39) |
D714G |
probably benign |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Ahctf1 |
G |
T |
1: 179,609,237 (GRCm39) |
A639E |
probably benign |
Het |
Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
Anxa5 |
C |
T |
3: 36,519,436 (GRCm39) |
D18N |
probably damaging |
Het |
Apc |
C |
T |
18: 34,423,164 (GRCm39) |
P299L |
possibly damaging |
Het |
Btnl4 |
C |
A |
17: 34,693,210 (GRCm39) |
W68C |
probably damaging |
Het |
Cmya5 |
T |
A |
13: 93,281,021 (GRCm39) |
|
probably benign |
Het |
Cstf2t |
G |
T |
19: 31,060,523 (GRCm39) |
V20L |
probably benign |
Het |
D630045J12Rik |
A |
T |
6: 38,119,633 (GRCm39) |
V1703E |
probably damaging |
Het |
Dhx32 |
A |
G |
7: 133,323,941 (GRCm39) |
F535S |
probably damaging |
Het |
Diras2 |
T |
C |
13: 52,662,181 (GRCm39) |
D42G |
probably damaging |
Het |
Dppa3 |
T |
A |
6: 122,606,931 (GRCm39) |
D140E |
probably damaging |
Het |
Gzme |
T |
G |
14: 56,355,764 (GRCm39) |
T183P |
possibly damaging |
Het |
H2-T23 |
T |
A |
17: 36,342,707 (GRCm39) |
I144F |
possibly damaging |
Het |
Hlx |
T |
C |
1: 184,459,894 (GRCm39) |
S415G |
probably benign |
Het |
Krtap5-3 |
G |
A |
7: 141,755,223 (GRCm39) |
C20Y |
unknown |
Het |
Mcm8 |
G |
T |
2: 132,670,003 (GRCm39) |
R359L |
probably benign |
Het |
Mroh2b |
G |
C |
15: 4,973,859 (GRCm39) |
E1126Q |
probably damaging |
Het |
Nav1 |
C |
T |
1: 135,398,560 (GRCm39) |
R674H |
probably damaging |
Het |
Otx1 |
A |
T |
11: 21,949,406 (GRCm39) |
L24H |
probably damaging |
Het |
Rnaset2b |
T |
A |
17: 7,256,193 (GRCm39) |
|
probably null |
Het |
Samd12 |
T |
C |
15: 53,583,074 (GRCm39) |
K87E |
probably benign |
Het |
Sec16b |
T |
C |
1: 157,388,324 (GRCm39) |
S564P |
probably benign |
Het |
Speer4a1 |
A |
T |
5: 26,239,960 (GRCm39) |
C263* |
probably null |
Het |
Susd1 |
C |
A |
4: 59,411,359 (GRCm39) |
C158F |
possibly damaging |
Het |
Vmn2r6 |
C |
T |
3: 64,463,953 (GRCm39) |
V294M |
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 |
R0844:Gpr180
|
UTSW |
14 |
118,395,359 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- AGCAAATGTGTTCAAGCACTAGAGG -3'
(R):5'- TAGTTGCAGAGCAGAGCGTC -3'
Sequencing Primer
(F):5'- TGTGTTCAAGCACTAGAGGAGAAG -3'
(R):5'- GCGTCAGTGTAAATTACCAGTG -3'
|
Posted On |
2017-07-14 |