Incidental Mutation 'IGL03103:Gpr180'
| ID |
418823 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gpr180
|
| Ensembl Gene |
ENSMUSG00000022131 |
| Gene Name |
G protein-coupled receptor 180 |
| Synonyms |
ITR, E130016I23Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
IGL03103
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
118374570-118400673 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 118377175 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 59
(I59F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022728
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022728]
|
| AlphaFold |
Q8BPS4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022728
AA Change: I59F
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000022728
Gene: ENSMUSG00000022131
AA Change: I59F
| 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 |
|
| 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 |
|---|
| Cdc27 |
A |
T |
11: 104,403,806 (GRCm39) |
F652Y |
probably benign |
Het |
| Cntn5 |
T |
C |
9: 9,972,817 (GRCm39) |
|
probably benign |
Het |
| Ctsc |
A |
G |
7: 87,959,013 (GRCm39) |
N431S |
probably benign |
Het |
| Ddi2 |
A |
G |
4: 141,430,479 (GRCm39) |
M235T |
probably damaging |
Het |
| Dgkg |
G |
A |
16: 22,399,275 (GRCm39) |
P220S |
probably damaging |
Het |
| Haspin |
A |
T |
11: 73,027,526 (GRCm39) |
V521D |
probably damaging |
Het |
| Itprid1 |
A |
G |
6: 55,945,144 (GRCm39) |
T622A |
possibly damaging |
Het |
| Kif16b |
G |
T |
2: 142,704,408 (GRCm39) |
T57N |
probably damaging |
Het |
| Lmbr1 |
A |
G |
5: 29,440,014 (GRCm39) |
F422S |
probably damaging |
Het |
| Lpcat2b |
A |
T |
5: 107,581,414 (GRCm39) |
N248Y |
probably damaging |
Het |
| Lrch3 |
T |
C |
16: 32,772,507 (GRCm39) |
V163A |
probably damaging |
Het |
| Lrrc49 |
A |
G |
9: 60,592,316 (GRCm39) |
|
probably null |
Het |
| Mon2 |
T |
A |
10: 122,866,008 (GRCm39) |
|
probably benign |
Het |
| Mroh4 |
T |
C |
15: 74,488,008 (GRCm39) |
S374G |
possibly damaging |
Het |
| Nr1h3 |
T |
A |
2: 91,022,360 (GRCm39) |
K89N |
probably damaging |
Het |
| Or4c29 |
A |
T |
2: 88,740,522 (GRCm39) |
S72T |
probably benign |
Het |
| Or52w1 |
A |
G |
7: 105,017,785 (GRCm39) |
D75G |
probably damaging |
Het |
| Or8b49 |
A |
G |
9: 38,505,823 (GRCm39) |
Y102C |
probably damaging |
Het |
| Phldb3 |
C |
T |
7: 24,323,601 (GRCm39) |
P445L |
possibly damaging |
Het |
| Pstpip1 |
G |
T |
9: 56,021,592 (GRCm39) |
V39L |
possibly damaging |
Het |
| Sbf1 |
A |
T |
15: 89,178,150 (GRCm39) |
L1560Q |
probably damaging |
Het |
| Sco1 |
C |
T |
11: 66,946,568 (GRCm39) |
Q114* |
probably null |
Het |
| Slc29a4 |
A |
G |
5: 142,697,835 (GRCm39) |
H96R |
probably damaging |
Het |
| Slitrk6 |
A |
G |
14: 110,987,373 (GRCm39) |
L778P |
probably benign |
Het |
| Tas2r110 |
A |
G |
6: 132,845,443 (GRCm39) |
Q158R |
probably benign |
Het |
| Tle3 |
A |
G |
9: 61,300,524 (GRCm39) |
I92V |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,579,266 (GRCm39) |
M15549L |
possibly damaging |
Het |
| Urb2 |
T |
G |
8: 124,756,491 (GRCm39) |
S733A |
probably benign |
Het |
| Vcl |
T |
C |
14: 21,074,348 (GRCm39) |
W912R |
probably damaging |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation