Incidental Mutation 'R0688:Gpr180'
| ID |
61252 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpr180
|
| Ensembl Gene |
ENSMUSG00000022131 |
| Gene Name |
G protein-coupled receptor 180 |
| Synonyms |
ITR, E130016I23Rik |
| MMRRC Submission |
038873-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R0688 (G1)
|
| Quality Score |
127 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
118374570-118400673 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 118385596 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 136
(D136G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022728
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022728]
|
| AlphaFold |
Q8BPS4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022728
AA Change: D136G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000022728
Gene: ENSMUSG00000022131
AA Change: D136G
| 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: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.1%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad11 |
T |
G |
9: 104,001,299 (GRCm39) |
V615G |
probably damaging |
Het |
| Apaf1 |
T |
G |
10: 90,897,567 (GRCm39) |
E305D |
possibly damaging |
Het |
| Apol10b |
A |
G |
15: 77,469,419 (GRCm39) |
S253P |
probably damaging |
Het |
| Bbs9 |
T |
A |
9: 22,479,015 (GRCm39) |
C153S |
probably damaging |
Het |
| Bicra |
C |
T |
7: 15,723,247 (GRCm39) |
G90D |
probably damaging |
Het |
| Clca4a |
A |
C |
3: 144,667,735 (GRCm39) |
L412R |
probably damaging |
Het |
| Cul3 |
A |
T |
1: 80,249,281 (GRCm39) |
D597E |
possibly damaging |
Het |
| Cxcr5 |
A |
G |
9: 44,424,964 (GRCm39) |
|
probably null |
Het |
| Dnah10 |
T |
C |
5: 124,824,782 (GRCm39) |
I646T |
possibly damaging |
Het |
| Focad |
T |
A |
4: 88,192,450 (GRCm39) |
V593D |
unknown |
Het |
| Fsip2 |
T |
A |
2: 82,812,683 (GRCm39) |
S3001T |
probably benign |
Het |
| Ganab |
T |
A |
19: 8,888,477 (GRCm39) |
Y511N |
probably damaging |
Het |
| Gdf9 |
T |
A |
11: 53,327,467 (GRCm39) |
L141Q |
probably damaging |
Het |
| Hsd3b9 |
T |
C |
3: 98,363,710 (GRCm39) |
E45G |
probably benign |
Het |
| Itga2 |
G |
T |
13: 114,976,090 (GRCm39) |
A1094E |
probably benign |
Het |
| Ly75 |
C |
T |
2: 60,146,565 (GRCm39) |
A1238T |
probably benign |
Het |
| Macc1 |
T |
C |
12: 119,410,738 (GRCm39) |
V502A |
probably damaging |
Het |
| Mroh4 |
T |
C |
15: 74,478,527 (GRCm39) |
K923E |
probably damaging |
Het |
| Msh3 |
G |
A |
13: 92,487,939 (GRCm39) |
P93S |
possibly damaging |
Het |
| Myo18a |
A |
G |
11: 77,714,966 (GRCm39) |
D474G |
probably damaging |
Het |
| Npat |
T |
A |
9: 53,481,522 (GRCm39) |
Y1077N |
probably benign |
Het |
| Or4c109 |
A |
T |
2: 88,817,939 (GRCm39) |
S202R |
probably damaging |
Het |
| Or6c69 |
T |
G |
10: 129,747,752 (GRCm39) |
T132P |
probably damaging |
Het |
| Or6k14 |
A |
C |
1: 173,927,630 (GRCm39) |
H202P |
probably damaging |
Het |
| Or8u8 |
A |
T |
2: 86,011,949 (GRCm39) |
|
probably null |
Het |
| Paqr5 |
T |
G |
9: 61,880,076 (GRCm39) |
T59P |
probably benign |
Het |
| Phyhipl |
C |
T |
10: 70,395,085 (GRCm39) |
G329R |
probably damaging |
Het |
| Pomgnt1 |
T |
C |
4: 116,013,086 (GRCm39) |
Y430H |
probably damaging |
Het |
| Pramel21 |
T |
C |
4: 143,343,927 (GRCm39) |
F409S |
probably benign |
Het |
| Prkd3 |
A |
T |
17: 79,264,662 (GRCm39) |
M651K |
probably damaging |
Het |
| Puf60 |
A |
T |
15: 75,942,623 (GRCm39) |
M440K |
probably damaging |
Het |
| Recql4 |
A |
G |
15: 76,594,009 (GRCm39) |
|
probably null |
Het |
| Sgk1 |
A |
C |
10: 21,874,059 (GRCm39) |
M320L |
probably benign |
Het |
| Slc27a4 |
T |
C |
2: 29,702,627 (GRCm39) |
F509S |
probably damaging |
Het |
| Sorbs1 |
T |
C |
19: 40,351,706 (GRCm39) |
T235A |
probably damaging |
Het |
| Srrm3 |
A |
G |
5: 135,898,130 (GRCm39) |
|
probably benign |
Het |
| Tex15 |
C |
T |
8: 34,063,528 (GRCm39) |
T986I |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Zswim4 |
T |
C |
8: 84,955,517 (GRCm39) |
M301V |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGAGCAAGGTTTTAGCCCCTGTG -3'
(R):5'- CGGTACTTCAGTAAGGCAAGGCAC -3'
Sequencing Primer
(F):5'- TTACGTGAGTGTAGCCTGAGAG -3'
(R):5'- CTAAAGCTCTAAGGAGGCTTTGC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation