Incidental Mutation 'IGL00961:Gpr182'
| ID |
28390 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gpr182
|
| Ensembl Gene |
ENSMUSG00000058396 |
| Gene Name |
G protein-coupled receptor 182 |
| Synonyms |
Gpcr17, NOW, G10-D, Admr, AM-R, Gpcr22 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00961
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
127585471-127587667 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 127586559 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 131
(V131I)
|
| 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 |
probably benign
Transcript: ENSMUST00000079692
AA Change: V131I
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000100882
Gene: ENSMUSG00000058396
AA Change: V131I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
66 |
316 |
1.2e-40 |
PFAM |
|
low complexity region
|
340 |
352 |
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.] 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921522P10Rik |
C |
A |
8: 8,713,425 (GRCm39) |
|
probably benign |
Het |
| Arfgef3 |
T |
A |
10: 18,486,985 (GRCm39) |
I1350F |
probably damaging |
Het |
| Arfip1 |
A |
G |
3: 84,405,095 (GRCm39) |
V236A |
probably benign |
Het |
| Bicc1 |
A |
G |
10: 70,796,987 (GRCm39) |
I124T |
probably damaging |
Het |
| Cacnb4 |
T |
A |
2: 52,367,724 (GRCm39) |
I82F |
possibly damaging |
Het |
| Card11 |
A |
T |
5: 140,885,464 (GRCm39) |
M365K |
probably damaging |
Het |
| Chd2 |
A |
G |
7: 73,093,997 (GRCm39) |
S1560P |
probably damaging |
Het |
| Depdc1a |
T |
A |
3: 159,229,451 (GRCm39) |
N594K |
possibly damaging |
Het |
| Dmbx1 |
A |
T |
4: 115,777,203 (GRCm39) |
V215E |
probably benign |
Het |
| Farp2 |
A |
T |
1: 93,549,035 (GRCm39) |
E1047V |
possibly damaging |
Het |
| Gm21759 |
A |
T |
5: 8,229,731 (GRCm39) |
|
probably benign |
Het |
| Irx1 |
T |
C |
13: 72,108,076 (GRCm39) |
D202G |
probably damaging |
Het |
| Lrp6 |
T |
C |
6: 134,484,609 (GRCm39) |
D338G |
probably damaging |
Het |
| Nrxn3 |
A |
T |
12: 90,171,320 (GRCm39) |
I241L |
possibly damaging |
Het |
| Parp6 |
A |
G |
9: 59,540,242 (GRCm39) |
Y265C |
probably damaging |
Het |
| Prex1 |
G |
T |
2: 166,427,656 (GRCm39) |
Q999K |
probably damaging |
Het |
| Rad54b |
T |
C |
4: 11,599,699 (GRCm39) |
I301T |
probably damaging |
Het |
| Rnf213 |
A |
T |
11: 119,331,669 (GRCm39) |
I2294F |
possibly damaging |
Het |
| Ska3 |
T |
C |
14: 58,059,581 (GRCm39) |
I81M |
possibly damaging |
Het |
| Smap1 |
T |
C |
1: 23,887,355 (GRCm39) |
N308S |
probably benign |
Het |
| Stag3 |
A |
G |
5: 138,296,611 (GRCm39) |
K490E |
probably benign |
Het |
| Stk11ip |
C |
T |
1: 75,506,910 (GRCm39) |
R664C |
probably damaging |
Het |
| Tmem176b |
T |
A |
6: 48,811,004 (GRCm39) |
I259F |
possibly damaging |
Het |
| Usp37 |
T |
C |
1: 74,529,314 (GRCm39) |
T122A |
probably benign |
Het |
| Vmn2r7 |
T |
C |
3: 64,623,234 (GRCm39) |
E453G |
possibly damaging |
Het |
|
| Other mutations in Gpr182 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R2292:Gpr182
|
UTSW |
10 |
127,586,051 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
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 |
|
| Posted On |
2013-04-17 |
Incidental Mutation