Incidental Mutation 'R1034:Gpr156'
| ID |
95478 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpr156
|
| Ensembl Gene |
ENSMUSG00000046961 |
| Gene Name |
G protein-coupled receptor 156 |
| Synonyms |
Gababl |
| MMRRC Submission |
039133-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1034 (G1)
|
| Quality Score |
214 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
37736858-37827892 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37825088 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 435
(V435A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055958
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061274]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061274
AA Change: V435A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000055958
Gene: ENSMUSG00000046961
AA Change: V435A
| 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: 98.7%
- 3x: 97.3%
- 10x: 92.9%
- 20x: 82.2%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
G |
A |
5: 77,024,130 (GRCm39) |
T174M |
probably damaging |
Het |
| Abca14 |
T |
C |
7: 119,815,370 (GRCm39) |
F206S |
probably damaging |
Het |
| Arid2 |
T |
C |
15: 96,267,386 (GRCm39) |
V622A |
probably benign |
Het |
| Asic1 |
T |
A |
15: 99,595,939 (GRCm39) |
L437Q |
probably damaging |
Het |
| Atp1b1 |
C |
T |
1: 164,281,057 (GRCm39) |
|
probably null |
Het |
| B3gnt5 |
A |
G |
16: 19,588,234 (GRCm39) |
Y151C |
probably damaging |
Het |
| Cbx4 |
A |
G |
11: 118,972,533 (GRCm39) |
S281P |
probably damaging |
Het |
| Dnah5 |
G |
A |
15: 28,302,617 (GRCm39) |
V1625I |
probably damaging |
Het |
| Eftud2 |
A |
C |
11: 102,740,010 (GRCm39) |
D461E |
probably benign |
Het |
| Epgn |
A |
G |
5: 91,180,080 (GRCm39) |
Y74C |
probably damaging |
Het |
| Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
| Fgf14 |
C |
T |
14: 124,369,946 (GRCm39) |
V113I |
probably damaging |
Het |
| Ggcx |
G |
A |
6: 72,391,814 (GRCm39) |
R68H |
probably damaging |
Het |
| Gm1110 |
A |
G |
9: 26,832,646 (GRCm39) |
S16P |
probably damaging |
Het |
| Gm6729 |
T |
C |
10: 86,375,890 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr108 |
A |
G |
17: 57,542,995 (GRCm39) |
F522S |
probably damaging |
Het |
| Khdrbs2 |
T |
C |
1: 32,506,872 (GRCm39) |
L172P |
probably damaging |
Het |
| Kmo |
C |
T |
1: 175,479,184 (GRCm39) |
P240L |
possibly damaging |
Het |
| Ltn1 |
A |
T |
16: 87,194,025 (GRCm39) |
|
probably null |
Het |
| Nbeal1 |
T |
A |
1: 60,329,165 (GRCm39) |
Y2194* |
probably null |
Het |
| Or6c8 |
T |
A |
10: 128,915,830 (GRCm39) |
M1L |
probably benign |
Het |
| Or7d11 |
A |
T |
9: 19,966,661 (GRCm39) |
S33T |
probably benign |
Het |
| Rab6b |
T |
C |
9: 103,044,323 (GRCm39) |
S172P |
probably benign |
Het |
| Ror1 |
T |
A |
4: 100,190,817 (GRCm39) |
L58* |
probably null |
Het |
| Sec23b |
A |
G |
2: 144,432,258 (GRCm39) |
D756G |
possibly damaging |
Het |
| Slc24a2 |
T |
A |
4: 86,950,512 (GRCm39) |
K428N |
probably damaging |
Het |
| Spen |
C |
A |
4: 141,203,063 (GRCm39) |
V1855L |
probably benign |
Het |
| Srgap1 |
G |
A |
10: 121,621,350 (GRCm39) |
P1071S |
possibly damaging |
Het |
| Tns1 |
A |
G |
1: 73,981,128 (GRCm39) |
C1079R |
probably damaging |
Het |
| Traf3ip1 |
G |
T |
1: 91,446,041 (GRCm39) |
|
probably null |
Het |
| Trmt2a |
T |
C |
16: 18,067,573 (GRCm39) |
F82S |
probably damaging |
Het |
| Xrn1 |
A |
G |
9: 95,921,790 (GRCm39) |
D1401G |
probably damaging |
Het |
| Zfp352 |
T |
A |
4: 90,112,393 (GRCm39) |
S178T |
possibly damaging |
Het |
| Zfp758 |
G |
T |
17: 22,594,740 (GRCm39) |
E409* |
probably null |
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 |
|
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 |
|
R9767:Gpr156
|
UTSW |
16 |
37,818,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Gpr156
|
UTSW |
16 |
37,825,225 (GRCm39) |
missense |
probably benign |
0.22 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCAAGAGCAAGTCAGCAACG -3'
(R):5'- GGCCACTCCATCTGCCATTAAACG -3'
Sequencing Primer
(F):5'- AGTCAGCAACGCCAAGG -3'
(R):5'- CATGGGTTCCTGGTCTCCTC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation