Incidental Mutation 'IGL00478:Gpr137c'
| ID |
11096 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gpr137c
|
| Ensembl Gene |
ENSMUSG00000049092 |
| Gene Name |
G protein-coupled receptor 137C |
| Synonyms |
TM7SF1L2, LOC380893, 6330416L11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
IGL00478
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
45457174-45520182 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45516202 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 312
(V312A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120015
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022378]
[ENSMUST00000146150]
[ENSMUST00000151749]
|
| AlphaFold |
E9Q343 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022378
|
| SMART Domains |
Protein: ENSMUSP00000022378
Gene: ENSMUSG00000021831
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
Pfam:ERO1
|
60 |
453 |
3.7e-128 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146150
AA Change: V312A
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000120015
Gene: ENSMUSG00000049092
AA Change: V312A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
23 |
39 |
N/A |
INTRINSIC |
|
transmembrane domain
|
44 |
66 |
N/A |
INTRINSIC |
|
transmembrane domain
|
78 |
100 |
N/A |
INTRINSIC |
|
Blast:G_alpha
|
121 |
286 |
9e-17 |
BLAST |
|
transmembrane domain
|
294 |
316 |
N/A |
INTRINSIC |
|
low complexity region
|
376 |
389 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151749
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227166
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
A |
G |
8: 111,774,604 (GRCm39) |
T578A |
possibly damaging |
Het |
| Ablim1 |
C |
T |
19: 57,056,618 (GRCm39) |
A359T |
probably damaging |
Het |
| Akap9 |
G |
A |
5: 4,096,639 (GRCm39) |
V2505M |
probably damaging |
Het |
| Alpk2 |
A |
T |
18: 65,440,297 (GRCm39) |
C365* |
probably null |
Het |
| C920021L13Rik |
A |
T |
3: 95,794,797 (GRCm39) |
|
probably benign |
Het |
| Chd3 |
A |
T |
11: 69,247,888 (GRCm39) |
V905E |
probably damaging |
Het |
| Cntrl |
T |
C |
2: 35,050,613 (GRCm39) |
V1529A |
probably damaging |
Het |
| Coro2a |
T |
C |
4: 46,540,455 (GRCm39) |
D488G |
probably benign |
Het |
| Dpf1 |
G |
T |
7: 29,015,981 (GRCm39) |
|
probably benign |
Het |
| Fga |
T |
A |
3: 82,935,951 (GRCm39) |
D59E |
probably benign |
Het |
| Ggh |
T |
A |
4: 20,057,965 (GRCm39) |
H175Q |
probably benign |
Het |
| Glyat |
T |
C |
19: 12,625,497 (GRCm39) |
|
probably benign |
Het |
| Myt1 |
T |
C |
2: 181,442,908 (GRCm39) |
S466P |
probably damaging |
Het |
| Nlrp5 |
A |
T |
7: 23,141,213 (GRCm39) |
D1078V |
probably damaging |
Het |
| Rad17 |
T |
C |
13: 100,769,782 (GRCm39) |
D259G |
probably damaging |
Het |
| Rpp14 |
G |
A |
14: 8,083,934 (GRCm38) |
G30E |
possibly damaging |
Het |
| Uspl1 |
A |
T |
5: 149,152,024 (GRCm39) |
T1075S |
possibly damaging |
Het |
| Vash1 |
T |
A |
12: 86,727,042 (GRCm39) |
I94N |
possibly damaging |
Het |
| Zfp770 |
T |
C |
2: 114,027,946 (GRCm39) |
E41G |
probably damaging |
Het |
|
| Other mutations in Gpr137c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02167:Gpr137c
|
APN |
14 |
45,517,412 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02203:Gpr137c
|
APN |
14 |
45,514,944 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02960:Gpr137c
|
APN |
14 |
45,483,890 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0731:Gpr137c
|
UTSW |
14 |
45,483,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1162:Gpr137c
|
UTSW |
14 |
45,481,615 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1245:Gpr137c
|
UTSW |
14 |
45,516,522 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1983:Gpr137c
|
UTSW |
14 |
45,517,428 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2060:Gpr137c
|
UTSW |
14 |
45,481,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2428:Gpr137c
|
UTSW |
14 |
45,516,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3034:Gpr137c
|
UTSW |
14 |
45,457,733 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3911:Gpr137c
|
UTSW |
14 |
45,516,392 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4037:Gpr137c
|
UTSW |
14 |
45,457,687 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4038:Gpr137c
|
UTSW |
14 |
45,457,687 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4213:Gpr137c
|
UTSW |
14 |
45,483,965 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4986:Gpr137c
|
UTSW |
14 |
45,483,743 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5521:Gpr137c
|
UTSW |
14 |
45,516,151 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6028:Gpr137c
|
UTSW |
14 |
45,514,938 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7117:Gpr137c
|
UTSW |
14 |
45,516,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7238:Gpr137c
|
UTSW |
14 |
45,516,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7365:Gpr137c
|
UTSW |
14 |
45,516,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9515:Gpr137c
|
UTSW |
14 |
45,516,229 (GRCm39) |
nonsense |
probably null |
|
|
R9539:Gpr137c
|
UTSW |
14 |
45,516,187 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0027:Gpr137c
|
UTSW |
14 |
45,516,126 (GRCm39) |
missense |
probably benign |
0.14 |
|
| Posted On |
2012-12-06 |
Incidental Mutation