Incidental Mutation 'R9767:Gpr156'
| ID |
733349 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpr156
|
| Ensembl Gene |
ENSMUSG00000046961 |
| Gene Name |
G protein-coupled receptor 156 |
| Synonyms |
Gababl |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9767 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
37736858-37827892 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37818297 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 331
(Y331C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055958
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061274]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061274
AA Change: Y331C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000055958
Gene: ENSMUSG00000046961
AA Change: Y331C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
50 |
N/A |
INTRINSIC |
|
Pfam:7tm_3
|
61 |
313 |
2.6e-37 |
PFAM |
|
coiled coil region
|
353 |
390 |
N/A |
INTRINSIC |
|
low complexity region
|
584 |
593 |
N/A |
INTRINSIC |
|
low complexity region
|
635 |
648 |
N/A |
INTRINSIC |
|
low complexity region
|
681 |
716 |
N/A |
INTRINSIC |
|
low complexity region
|
729 |
739 |
N/A |
INTRINSIC |
|
low complexity region
|
753 |
766 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] G protein-coupled receptors (GPCRs) are a large superfamily of cell surface receptors characterized by 7 helical transmembrane domains, together with N-terminal extracellular and C-terminal intracellular domains.[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
A |
T |
3: 151,207,394 (GRCm39) |
M314L |
probably benign |
Het |
| Ank3 |
T |
C |
10: 69,823,799 (GRCm39) |
S41P |
probably damaging |
Het |
| Aox4 |
A |
C |
1: 58,274,357 (GRCm39) |
N381T |
probably benign |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Bpifb6 |
G |
A |
2: 153,751,148 (GRCm39) |
|
probably null |
Het |
| Cep350 |
A |
G |
1: 155,739,018 (GRCm39) |
V2275A |
probably benign |
Het |
| Cntn4 |
G |
A |
6: 106,655,395 (GRCm39) |
G831E |
probably benign |
Het |
| D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
| Dchs2 |
A |
G |
3: 83,212,206 (GRCm39) |
I2002V |
probably benign |
Het |
| Dennd2a |
G |
A |
6: 39,483,709 (GRCm39) |
R384C |
probably damaging |
Het |
| Dock1 |
A |
G |
7: 134,342,796 (GRCm39) |
T136A |
possibly damaging |
Het |
| Eif2s2 |
A |
T |
2: 154,730,125 (GRCm39) |
D57E |
probably benign |
Het |
| Eml2 |
C |
T |
7: 18,920,083 (GRCm39) |
T129I |
probably benign |
Het |
| Flad1 |
A |
C |
3: 89,310,718 (GRCm39) |
I443S |
probably benign |
Het |
| Glis1 |
A |
T |
4: 107,491,794 (GRCm39) |
T741S |
probably benign |
Het |
| Lrwd1 |
C |
T |
5: 136,162,856 (GRCm39) |
V122M |
possibly damaging |
Het |
| Ndufs2 |
G |
T |
1: 171,068,643 (GRCm39) |
P89Q |
probably damaging |
Het |
| Nkx1-2 |
C |
T |
7: 132,199,402 (GRCm39) |
V120I |
probably benign |
Het |
| Or2t35 |
C |
T |
14: 14,407,929 (GRCm38) |
R234W |
probably damaging |
Het |
| Or7a41 |
T |
C |
10: 78,870,765 (GRCm39) |
L45P |
possibly damaging |
Het |
| Pcdhga3 |
T |
A |
18: 37,808,096 (GRCm39) |
I183N |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,484,636 (GRCm39) |
D1973G |
probably benign |
Het |
| Ppp1r3a |
A |
G |
6: 14,718,101 (GRCm39) |
S938P |
probably benign |
Het |
| Prss27 |
G |
T |
17: 24,257,283 (GRCm39) |
M1I |
probably null |
Het |
| Rai14 |
T |
C |
15: 10,610,127 (GRCm39) |
T74A |
probably benign |
Het |
| Rcc2 |
C |
T |
4: 140,435,331 (GRCm39) |
R117W |
probably damaging |
Het |
| Rpl31 |
T |
A |
1: 39,410,189 (GRCm39) |
*130R |
probably null |
Het |
| Rplp0 |
T |
C |
5: 115,699,563 (GRCm39) |
S213P |
probably benign |
Het |
| Sdcbp2 |
T |
C |
2: 151,429,057 (GRCm39) |
I152T |
probably damaging |
Het |
| Senp3 |
T |
C |
11: 69,569,013 (GRCm39) |
T383A |
possibly damaging |
Het |
| Sod2 |
C |
A |
17: 13,227,180 (GRCm39) |
Q45K |
probably benign |
Het |
| Speg |
A |
T |
1: 75,403,825 (GRCm39) |
I2669F |
possibly damaging |
Het |
| Stat4 |
T |
G |
1: 52,141,653 (GRCm39) |
F577V |
probably damaging |
Het |
| Tex9 |
C |
A |
9: 72,368,518 (GRCm39) |
E377* |
probably null |
Het |
| Tmprss15 |
A |
T |
16: 78,875,977 (GRCm39) |
V119D |
probably damaging |
Het |
| Unc79 |
T |
C |
12: 103,079,234 (GRCm39) |
S1800P |
probably benign |
Het |
| Vldlr |
A |
G |
19: 27,212,274 (GRCm39) |
D96G |
probably damaging |
Het |
| Vmn2r51 |
G |
T |
7: 9,839,407 (GRCm39) |
N60K |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,910,403 (GRCm39) |
D3389G |
probably damaging |
Het |
| Vps13d |
C |
T |
4: 144,879,306 (GRCm39) |
E1506K |
|
Het |
| Zfp1 |
A |
G |
8: 112,396,203 (GRCm39) |
N75D |
probably benign |
Het |
|
| Other mutations in Gpr156 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00943:Gpr156
|
APN |
16 |
37,808,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01615:Gpr156
|
APN |
16 |
37,808,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01976:Gpr156
|
APN |
16 |
37,799,395 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02217:Gpr156
|
APN |
16 |
37,825,673 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02515:Gpr156
|
APN |
16 |
37,826,041 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02596:Gpr156
|
APN |
16 |
37,799,086 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03068:Gpr156
|
APN |
16 |
37,812,491 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0690:Gpr156
|
UTSW |
16 |
37,812,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1034:Gpr156
|
UTSW |
16 |
37,825,088 (GRCm39) |
missense |
probably benign |
|
|
R1133:Gpr156
|
UTSW |
16 |
37,825,683 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1317:Gpr156
|
UTSW |
16 |
37,807,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1437:Gpr156
|
UTSW |
16 |
37,808,904 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1484:Gpr156
|
UTSW |
16 |
37,812,558 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1759:Gpr156
|
UTSW |
16 |
37,768,583 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1761:Gpr156
|
UTSW |
16 |
37,807,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1998:Gpr156
|
UTSW |
16 |
37,818,270 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R2067:Gpr156
|
UTSW |
16 |
37,799,113 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2111:Gpr156
|
UTSW |
16 |
37,799,113 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2509:Gpr156
|
UTSW |
16 |
37,768,149 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2872:Gpr156
|
UTSW |
16 |
37,812,585 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2872:Gpr156
|
UTSW |
16 |
37,812,585 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3839:Gpr156
|
UTSW |
16 |
37,808,962 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4492:Gpr156
|
UTSW |
16 |
37,812,468 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4988:Gpr156
|
UTSW |
16 |
37,768,577 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5329:Gpr156
|
UTSW |
16 |
37,825,810 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5361:Gpr156
|
UTSW |
16 |
37,826,087 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5386:Gpr156
|
UTSW |
16 |
37,768,671 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5531:Gpr156
|
UTSW |
16 |
37,825,619 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5886:Gpr156
|
UTSW |
16 |
37,799,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5942:Gpr156
|
UTSW |
16 |
37,825,264 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6345:Gpr156
|
UTSW |
16 |
37,807,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7247:Gpr156
|
UTSW |
16 |
37,768,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7353:Gpr156
|
UTSW |
16 |
37,812,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7954:Gpr156
|
UTSW |
16 |
37,807,920 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8316:Gpr156
|
UTSW |
16 |
37,818,336 (GRCm39) |
missense |
probably null |
0.00 |
|
R8333:Gpr156
|
UTSW |
16 |
37,812,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8507:Gpr156
|
UTSW |
16 |
37,768,598 (GRCm39) |
missense |
probably benign |
|
|
R8770:Gpr156
|
UTSW |
16 |
37,824,974 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9237:Gpr156
|
UTSW |
16 |
37,825,648 (GRCm39) |
nonsense |
probably null |
|
|
R9491:Gpr156
|
UTSW |
16 |
37,825,704 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1177:Gpr156
|
UTSW |
16 |
37,825,225 (GRCm39) |
missense |
probably benign |
0.22 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAACAGCTTGTGCCTGAGTGTG -3'
(R):5'- ACATGTGGAGTCATGAGGGC -3'
Sequencing Primer
(F):5'- TGTTGGTGACTGTGTCATTCC -3'
(R):5'- CATGAGGGACCACGAGGGC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation