Incidental Mutation 'R8333:Gpr182'
ID |
644482 |
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 |
067861-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8333 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
127585471-127587667 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 127585790 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 387
(N387S)
|
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: N387S
PolyPhen 2
Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000100882 Gene: ENSMUSG00000058396 AA Change: N387S
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
100% (39/39) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Amigo2 |
T |
C |
15: 97,143,166 (GRCm39) |
T419A |
probably damaging |
Het |
Baiap2l1 |
A |
C |
5: 144,217,691 (GRCm39) |
I298M |
possibly damaging |
Het |
BC005624 |
G |
T |
2: 30,863,748 (GRCm39) |
A245D |
probably benign |
Het |
Cdh23 |
T |
A |
10: 60,150,390 (GRCm39) |
I2527F |
probably damaging |
Het |
Celsr1 |
T |
C |
15: 85,915,615 (GRCm39) |
H786R |
possibly damaging |
Het |
Cerkl |
A |
G |
2: 79,168,922 (GRCm39) |
V427A |
possibly damaging |
Het |
Cfap43 |
G |
T |
19: 47,885,765 (GRCm39) |
C283* |
probably null |
Het |
Chfr |
G |
A |
5: 110,302,803 (GRCm39) |
A455T |
probably benign |
Het |
Cldn13 |
T |
A |
5: 134,943,850 (GRCm39) |
I112F |
possibly damaging |
Het |
Cyb5rl |
T |
A |
4: 106,925,875 (GRCm39) |
V19E |
probably benign |
Het |
Dcp1a |
A |
G |
14: 30,244,883 (GRCm39) |
T570A |
possibly damaging |
Het |
Dlgap2 |
T |
A |
8: 14,828,295 (GRCm39) |
C568S |
probably benign |
Het |
Ecm2 |
T |
C |
13: 49,671,859 (GRCm39) |
L120P |
probably damaging |
Het |
Gpr156 |
T |
C |
16: 37,812,416 (GRCm39) |
S251P |
probably damaging |
Het |
Grid1 |
T |
C |
14: 35,291,595 (GRCm39) |
V834A |
possibly damaging |
Het |
Igkv8-34 |
T |
C |
6: 70,021,337 (GRCm39) |
S42G |
probably benign |
Het |
Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
Lrrc19 |
T |
A |
4: 94,527,587 (GRCm39) |
D208V |
probably benign |
Het |
Lrrc9 |
C |
T |
12: 72,528,317 (GRCm39) |
T872I |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,279,245 (GRCm39) |
|
probably null |
Het |
Mrpl13 |
A |
G |
15: 55,420,679 (GRCm39) |
M1T |
probably null |
Het |
Ncapg |
C |
T |
5: 45,831,805 (GRCm39) |
T217I |
probably damaging |
Het |
Nim1k |
G |
A |
13: 120,174,022 (GRCm39) |
P291S |
probably damaging |
Het |
Or8c11 |
G |
A |
9: 38,289,912 (GRCm39) |
G239D |
probably damaging |
Het |
Or8k31-ps1 |
A |
T |
2: 86,356,415 (GRCm39) |
Y35* |
probably null |
Het |
Padi6 |
T |
C |
4: 140,464,687 (GRCm39) |
M181V |
probably damaging |
Het |
Pax7 |
T |
A |
4: 139,557,514 (GRCm39) |
I86F |
probably damaging |
Het |
Pbk |
T |
A |
14: 66,054,680 (GRCm39) |
Y271N |
probably benign |
Het |
Rabgap1 |
C |
T |
2: 37,385,710 (GRCm39) |
P492L |
probably benign |
Het |
Rhno1 |
G |
T |
6: 128,334,728 (GRCm39) |
D198E |
probably damaging |
Het |
Scn2a |
A |
C |
2: 65,514,191 (GRCm39) |
I292L |
probably benign |
Het |
Slc40a1 |
T |
C |
1: 45,950,439 (GRCm39) |
S338G |
probably damaging |
Het |
Slc45a3 |
A |
G |
1: 131,905,928 (GRCm39) |
Y317C |
probably damaging |
Het |
Stard9 |
T |
A |
2: 120,532,270 (GRCm39) |
S2842R |
probably benign |
Het |
Tle2 |
C |
T |
10: 81,413,518 (GRCm39) |
T119I |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,553,938 (GRCm39) |
V30922I |
possibly damaging |
Het |
Usp33 |
C |
T |
3: 152,080,297 (GRCm39) |
P476L |
probably damaging |
Het |
Wdr38 |
T |
C |
2: 38,889,361 (GRCm39) |
Y51H |
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 |
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 |
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'- GCTCCCTTAGACATCAGTACC -3'
(R):5'- TGAGCCTTGTGGTCCGTTAC -3'
Sequencing Primer
(F):5'- GGAAAGATCCATTCTCTGTCCTTC -3'
(R):5'- GGTCCGTTACCTTCCCAAG -3'
|
Posted On |
2020-09-02 |