Incidental Mutation 'R2292:Gpr182'
ID |
245045 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpr182
|
Ensembl Gene |
ENSMUSG00000058396 |
Gene Name |
G protein-coupled receptor 182 |
Synonyms |
Gpcr17, NOW, G10-D, Admr, AM-R, Gpcr22 |
MMRRC Submission |
040291-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2292 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
127585471-127587667 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 127586051 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 300
(I300T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000100882
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054287]
[ENSMUST00000079692]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000054287
|
SMART Domains |
Protein: ENSMUSP00000052717 Gene: ENSMUSG00000044617
Domain | Start | End | E-Value | Type |
BTB
|
30 |
126 |
9.15e-24 |
SMART |
low complexity region
|
197 |
206 |
N/A |
INTRINSIC |
low complexity region
|
213 |
229 |
N/A |
INTRINSIC |
ZnF_C2H2
|
372 |
394 |
6.4e0 |
SMART |
ZnF_C2H2
|
400 |
420 |
3.21e1 |
SMART |
ZnF_C2H2
|
451 |
474 |
9.31e1 |
SMART |
ZnF_C2H2
|
480 |
502 |
6.92e0 |
SMART |
ZnF_C2H2
|
508 |
530 |
1.79e-2 |
SMART |
ZnF_C2H2
|
538 |
560 |
1.18e-2 |
SMART |
ZnF_C2H2
|
605 |
627 |
2.57e-3 |
SMART |
ZnF_C2H2
|
633 |
655 |
3.78e-1 |
SMART |
ZnF_C2H2
|
661 |
683 |
2.49e-1 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079692
AA Change: I300T
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000100882 Gene: ENSMUSG00000058396 AA Change: I300T
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
66 |
316 |
1.2e-40 |
PFAM |
low complexity region
|
340 |
352 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.8%
|
Validation Efficiency |
100% (44/44) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Adrenomedullin is a potent vasodilator peptide that exerts major effects on cardiovascular function. This gene encodes a seven-transmembrane protein that belongs to the family 1 of G-protein coupled receptors. Studies of the rat counterpart suggest that the encoded protein may function as a receptor for adrenomedullin. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
T |
C |
2: 68,562,483 (GRCm39) |
I370T |
probably benign |
Het |
A2m |
A |
G |
6: 121,650,518 (GRCm39) |
T1209A |
possibly damaging |
Het |
Als2 |
T |
C |
1: 59,226,544 (GRCm39) |
Q920R |
probably damaging |
Het |
Arhgap20 |
T |
A |
9: 51,760,743 (GRCm39) |
Y829N |
possibly damaging |
Het |
Arhgap35 |
A |
T |
7: 16,297,476 (GRCm39) |
F530I |
probably damaging |
Het |
Arid4a |
G |
T |
12: 71,108,315 (GRCm39) |
G40V |
probably damaging |
Het |
Ascc2 |
T |
C |
11: 4,629,352 (GRCm39) |
|
probably benign |
Het |
Cacna1b |
C |
T |
2: 24,496,632 (GRCm39) |
V2312I |
probably benign |
Het |
Dctn6 |
T |
C |
8: 34,559,679 (GRCm39) |
T159A |
probably benign |
Het |
Ddx55 |
G |
T |
5: 124,706,140 (GRCm39) |
A522S |
probably benign |
Het |
Dnah6 |
G |
A |
6: 72,998,092 (GRCm39) |
T4110I |
probably damaging |
Het |
Dvl1 |
G |
A |
4: 155,932,273 (GRCm39) |
V28I |
possibly damaging |
Het |
Dym |
A |
G |
18: 75,332,283 (GRCm39) |
T504A |
possibly damaging |
Het |
E130308A19Rik |
T |
C |
4: 59,690,579 (GRCm39) |
Y138H |
probably damaging |
Het |
Fgd4 |
A |
T |
16: 16,253,864 (GRCm39) |
C568S |
possibly damaging |
Het |
Fkbp4 |
A |
C |
6: 128,413,625 (GRCm39) |
V6G |
probably damaging |
Het |
Flg2 |
A |
T |
3: 93,127,984 (GRCm39) |
S2299C |
unknown |
Het |
Gdf2 |
A |
T |
14: 33,667,145 (GRCm39) |
N289I |
possibly damaging |
Het |
Iqcg |
A |
G |
16: 32,870,253 (GRCm39) |
V80A |
probably benign |
Het |
Letm1 |
A |
AG |
5: 33,926,859 (GRCm39) |
|
probably null |
Het |
Lyst |
T |
G |
13: 13,915,080 (GRCm39) |
F3258C |
probably damaging |
Het |
Map3k12 |
T |
C |
15: 102,408,574 (GRCm39) |
E870G |
probably damaging |
Het |
Mphosph10 |
G |
A |
7: 64,035,519 (GRCm39) |
P384L |
probably damaging |
Het |
Ncoa4 |
T |
G |
14: 31,895,413 (GRCm39) |
L179R |
probably damaging |
Het |
Nlrp1c-ps |
A |
G |
11: 71,137,188 (GRCm39) |
|
noncoding transcript |
Het |
Nwd2 |
A |
T |
5: 63,962,917 (GRCm39) |
M834L |
probably benign |
Het |
Or10a49 |
A |
T |
7: 108,468,223 (GRCm39) |
M46K |
probably benign |
Het |
Or2w6 |
A |
G |
13: 21,843,001 (GRCm39) |
M164T |
probably damaging |
Het |
Pccb |
T |
C |
9: 100,876,685 (GRCm39) |
E266G |
probably benign |
Het |
Pcdhb2 |
T |
A |
18: 37,430,297 (GRCm39) |
|
probably null |
Het |
Pramel25 |
T |
C |
4: 143,520,446 (GRCm39) |
I66T |
probably benign |
Het |
Prdm13 |
A |
C |
4: 21,683,914 (GRCm39) |
I119S |
unknown |
Het |
Tchh |
A |
G |
3: 93,349,689 (GRCm39) |
Y18C |
probably damaging |
Het |
Tmem192 |
T |
C |
8: 65,411,998 (GRCm39) |
V59A |
probably damaging |
Het |
Trak2 |
A |
T |
1: 58,974,916 (GRCm39) |
F92Y |
probably damaging |
Het |
Trappc11 |
C |
T |
8: 47,958,771 (GRCm39) |
G40D |
probably damaging |
Het |
Ttc23 |
A |
T |
7: 67,319,535 (GRCm39) |
I132F |
probably benign |
Het |
Ttc9b |
A |
G |
7: 27,355,405 (GRCm39) |
D225G |
probably benign |
Het |
Ubr3 |
G |
T |
2: 69,727,604 (GRCm39) |
|
probably benign |
Het |
Vmn2r75 |
A |
C |
7: 85,798,144 (GRCm39) |
C556W |
probably damaging |
Het |
Zbtb41 |
T |
C |
1: 139,368,097 (GRCm39) |
V595A |
probably damaging |
Het |
|
Other mutations in Gpr182 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00961:Gpr182
|
APN |
10 |
127,586,559 (GRCm39) |
missense |
probably benign |
0.09 |
IGL00983:Gpr182
|
APN |
10 |
127,586,657 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL01337:Gpr182
|
APN |
10 |
127,586,655 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01810:Gpr182
|
APN |
10 |
127,586,733 (GRCm39) |
missense |
probably damaging |
1.00 |
R0449:Gpr182
|
UTSW |
10 |
127,586,565 (GRCm39) |
missense |
probably damaging |
1.00 |
R0554:Gpr182
|
UTSW |
10 |
127,586,940 (GRCm39) |
missense |
probably benign |
0.00 |
R2229:Gpr182
|
UTSW |
10 |
127,586,010 (GRCm39) |
missense |
possibly damaging |
0.91 |
R2349:Gpr182
|
UTSW |
10 |
127,586,806 (GRCm39) |
missense |
probably damaging |
1.00 |
R2445:Gpr182
|
UTSW |
10 |
127,586,496 (GRCm39) |
missense |
probably benign |
0.01 |
R5977:Gpr182
|
UTSW |
10 |
127,586,748 (GRCm39) |
missense |
possibly damaging |
0.79 |
R6290:Gpr182
|
UTSW |
10 |
127,586,893 (GRCm39) |
missense |
probably benign |
0.00 |
R6415:Gpr182
|
UTSW |
10 |
127,586,375 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8014:Gpr182
|
UTSW |
10 |
127,586,874 (GRCm39) |
missense |
possibly damaging |
0.59 |
R8093:Gpr182
|
UTSW |
10 |
127,586,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R8333:Gpr182
|
UTSW |
10 |
127,585,790 (GRCm39) |
missense |
probably benign |
0.08 |
R8543:Gpr182
|
UTSW |
10 |
127,586,861 (GRCm39) |
missense |
probably benign |
0.43 |
R8788:Gpr182
|
UTSW |
10 |
127,586,529 (GRCm39) |
missense |
probably benign |
0.00 |
R9047:Gpr182
|
UTSW |
10 |
127,586,517 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGCTGCCCTCTTTGGTAATG -3'
(R):5'- TGTTCAATATCCTGACAGCCTG -3'
Sequencing Primer
(F):5'- CTGCCCTCTTTGGTAATGATGATG -3'
(R):5'- CCTGTTGATGTGGGCTTAC -3'
|
Posted On |
2014-10-30 |