Incidental Mutation 'R3839:Gpr156'
| ID |
277077 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpr156
|
| Ensembl Gene |
ENSMUSG00000046961 |
| Gene Name |
G protein-coupled receptor 156 |
| Synonyms |
Gababl |
| MMRRC Submission |
040892-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3839 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
37736858-37827892 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37808962 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 228
(V228D)
|
| 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: V228D
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000055958
Gene: ENSMUSG00000046961
AA Change: V228D
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.8%
- 20x: 96.4%
|
| Validation Efficiency |
98% (48/49) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028I16Rik |
A |
G |
10: 82,648,219 (GRCm39) |
|
noncoding transcript |
Het |
| Abraxas2 |
T |
A |
7: 132,484,867 (GRCm39) |
S303R |
probably benign |
Het |
| Ackr3 |
G |
A |
1: 90,141,850 (GRCm39) |
S103N |
probably damaging |
Het |
| Arhgef25 |
T |
C |
10: 127,025,605 (GRCm39) |
T12A |
probably benign |
Het |
| Aspm |
C |
T |
1: 139,405,792 (GRCm39) |
H1560Y |
probably benign |
Het |
| Atg10 |
A |
T |
13: 91,085,499 (GRCm39) |
I150K |
probably damaging |
Het |
| AW551984 |
T |
C |
9: 39,509,204 (GRCm39) |
|
probably benign |
Het |
| Cald1 |
A |
T |
6: 34,722,700 (GRCm39) |
D122V |
probably damaging |
Het |
| Cc2d2a |
T |
C |
5: 43,876,056 (GRCm39) |
V1011A |
probably benign |
Het |
| Cdh9 |
G |
T |
15: 16,823,524 (GRCm39) |
E169* |
probably null |
Het |
| Cmbl |
T |
C |
15: 31,582,144 (GRCm39) |
V47A |
probably damaging |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| Ctnnd2 |
T |
A |
15: 31,009,174 (GRCm39) |
|
probably null |
Het |
| Cyp4a10 |
A |
C |
4: 115,382,544 (GRCm39) |
E278A |
possibly damaging |
Het |
| Ddx56 |
T |
C |
11: 6,217,712 (GRCm39) |
D3G |
probably benign |
Het |
| Dnajb2 |
G |
A |
1: 75,218,124 (GRCm39) |
|
probably null |
Het |
| Eif3d |
T |
A |
15: 77,848,300 (GRCm39) |
T211S |
probably benign |
Het |
| Fam13c |
C |
T |
10: 70,378,478 (GRCm39) |
S336L |
probably damaging |
Het |
| Garnl3 |
C |
T |
2: 32,879,558 (GRCm39) |
G923S |
probably benign |
Het |
| Gcnt4 |
A |
T |
13: 97,083,522 (GRCm39) |
R273* |
probably null |
Het |
| Gldc |
T |
A |
19: 30,096,075 (GRCm39) |
|
probably benign |
Het |
| Glra2 |
C |
T |
X: 164,072,612 (GRCm39) |
V85I |
probably benign |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
| Gpam |
T |
C |
19: 55,068,890 (GRCm39) |
N450S |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hmgcr |
A |
G |
13: 96,795,597 (GRCm39) |
I324T |
probably benign |
Het |
| Itga3 |
A |
G |
11: 94,948,095 (GRCm39) |
|
probably null |
Het |
| Itih1 |
T |
A |
14: 30,657,785 (GRCm39) |
N429Y |
probably damaging |
Het |
| Klhl40 |
A |
G |
9: 121,609,482 (GRCm39) |
Y453C |
possibly damaging |
Het |
| Mid1ip1 |
T |
C |
X: 10,584,620 (GRCm39) |
V51A |
possibly damaging |
Het |
| Msn |
C |
A |
X: 95,203,805 (GRCm39) |
Q303K |
probably damaging |
Het |
| Nap1l1 |
T |
A |
10: 111,331,183 (GRCm39) |
|
probably null |
Het |
| Rala |
A |
T |
13: 18,067,759 (GRCm39) |
C91S |
probably damaging |
Het |
| Rps9 |
A |
G |
7: 3,709,823 (GRCm39) |
|
probably benign |
Het |
| Sdr16c5 |
C |
A |
4: 4,006,601 (GRCm39) |
M230I |
probably damaging |
Het |
| Sec14l3 |
A |
G |
11: 4,021,544 (GRCm39) |
|
probably null |
Het |
| Senp2 |
T |
C |
16: 21,828,485 (GRCm39) |
S32P |
probably damaging |
Het |
| Skor1 |
A |
C |
9: 63,051,730 (GRCm39) |
S746R |
probably damaging |
Het |
| Slc17a4 |
C |
T |
13: 24,085,752 (GRCm39) |
R387H |
probably benign |
Het |
| Slc47a1 |
G |
T |
11: 61,243,884 (GRCm39) |
|
probably benign |
Het |
| Slit3 |
A |
T |
11: 35,399,064 (GRCm39) |
N143I |
probably benign |
Het |
| Tpbg |
T |
C |
9: 85,725,167 (GRCm39) |
|
probably benign |
Het |
| Tubb2a |
G |
T |
13: 34,259,294 (GRCm39) |
N165K |
probably benign |
Het |
| Usp14 |
A |
G |
18: 10,024,532 (GRCm39) |
|
probably null |
Het |
| Vmn2r109 |
A |
G |
17: 20,774,704 (GRCm39) |
V217A |
probably damaging |
Het |
| Zfp108 |
A |
G |
7: 23,959,981 (GRCm39) |
I191V |
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 |
|
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'- TTCACACTCCAAGGAAGTTCAC -3'
(R):5'- ACCGAATTCGAGCACATGGG -3'
Sequencing Primer
(F):5'- TCCAAGGAAGTTCACAGAGCTC -3'
(R):5'- GCTGTAAGTGGAACCCCTTTGAAC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation