Incidental Mutation 'IGL01337:Gpr182'
| ID |
74654 |
| 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 # |
IGL01337
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
127585471-127587667 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 127586655 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 99
(I99F)
|
| 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: I99F
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000100882
Gene: ENSMUSG00000058396
AA Change: I99F
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
C |
6: 121,645,529 (GRCm39) |
Y1025H |
probably damaging |
Het |
| Adarb2 |
T |
C |
13: 8,620,282 (GRCm39) |
L256P |
probably benign |
Het |
| Arsj |
A |
G |
3: 126,158,763 (GRCm39) |
Y114C |
probably damaging |
Het |
| Bdp1 |
G |
A |
13: 100,192,700 (GRCm39) |
P1378L |
probably benign |
Het |
| Clca3a2 |
T |
C |
3: 144,800,939 (GRCm39) |
Y138C |
probably damaging |
Het |
| Dsp |
G |
A |
13: 38,376,663 (GRCm39) |
D1483N |
probably benign |
Het |
| Etl4 |
T |
C |
2: 20,790,198 (GRCm39) |
S617P |
probably benign |
Het |
| Fbxo34 |
T |
C |
14: 47,767,674 (GRCm39) |
S345P |
probably benign |
Het |
| Gm5420 |
A |
G |
10: 21,567,514 (GRCm39) |
|
noncoding transcript |
Het |
| Hectd1 |
A |
G |
12: 51,849,057 (GRCm39) |
I349T |
possibly damaging |
Het |
| Kifc5b |
A |
G |
17: 27,143,718 (GRCm39) |
T497A |
possibly damaging |
Het |
| Mllt3 |
A |
C |
4: 87,759,057 (GRCm39) |
D330E |
probably damaging |
Het |
| Mpp3 |
T |
C |
11: 101,891,411 (GRCm39) |
T576A |
probably benign |
Het |
| Mroh2b |
A |
G |
15: 4,934,506 (GRCm39) |
M126V |
probably benign |
Het |
| Naalad2 |
T |
G |
9: 18,238,669 (GRCm39) |
D644A |
probably damaging |
Het |
| Or4a74 |
A |
G |
2: 89,439,720 (GRCm39) |
I242T |
probably damaging |
Het |
| Otof |
C |
A |
5: 30,563,121 (GRCm39) |
A242S |
possibly damaging |
Het |
| Otof |
T |
C |
5: 30,576,856 (GRCm39) |
D132G |
probably benign |
Het |
| Pdk4 |
T |
A |
6: 5,491,869 (GRCm39) |
M68L |
probably benign |
Het |
| Ptprf |
A |
G |
4: 118,093,488 (GRCm39) |
Y385H |
probably damaging |
Het |
| Rxrb |
A |
G |
17: 34,255,605 (GRCm39) |
N254S |
probably damaging |
Het |
| Samd5 |
T |
A |
10: 9,504,768 (GRCm39) |
Y162F |
probably benign |
Het |
| Sapcd2 |
A |
G |
2: 25,266,491 (GRCm39) |
*392W |
probably null |
Het |
| Senp6 |
T |
C |
9: 80,043,792 (GRCm39) |
Y635H |
probably damaging |
Het |
| Serpine1 |
C |
A |
5: 137,098,185 (GRCm39) |
V163L |
probably damaging |
Het |
| Slc15a1 |
T |
C |
14: 121,698,091 (GRCm39) |
E678G |
possibly damaging |
Het |
| Slc22a16 |
T |
C |
10: 40,471,310 (GRCm39) |
F494L |
possibly damaging |
Het |
| Slc5a12 |
T |
A |
2: 110,450,718 (GRCm39) |
C304* |
probably null |
Het |
| Spink1 |
G |
A |
18: 43,870,216 (GRCm39) |
|
probably benign |
Het |
| Star |
G |
A |
8: 26,299,892 (GRCm39) |
G78E |
probably damaging |
Het |
| Stx1a |
T |
C |
5: 135,074,518 (GRCm39) |
I203T |
probably damaging |
Het |
| Tap2 |
A |
G |
17: 34,424,386 (GRCm39) |
|
probably benign |
Het |
| Trim75 |
T |
C |
8: 65,436,387 (GRCm39) |
D21G |
possibly damaging |
Het |
| Vmn1r62 |
T |
A |
7: 5,679,144 (GRCm39) |
I275N |
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 |
|
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 |
2013-10-07 |
Incidental Mutation