Incidental Mutation 'R2428:Gpr137c'
| ID |
250318 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpr137c
|
| Ensembl Gene |
ENSMUSG00000049092 |
| Gene Name |
G protein-coupled receptor 137C |
| Synonyms |
TM7SF1L2, LOC380893, 6330416L11Rik |
| MMRRC Submission |
040390-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R2428 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
45457174-45520182 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45516420 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 336
(Y336C)
|
| 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: Y336C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120015
Gene: ENSMUSG00000049092
AA Change: Y336C
| 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
|
| Meta Mutation Damage Score |
0.2667 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (31/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
G |
A |
3: 36,145,072 (GRCm39) |
A624T |
probably benign |
Het |
| Astn1 |
C |
T |
1: 158,439,916 (GRCm39) |
A828V |
possibly damaging |
Het |
| Bag6 |
A |
C |
17: 35,366,151 (GRCm39) |
D1117A |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,509,533 (GRCm39) |
C3042S |
probably benign |
Het |
| Ctc1 |
G |
A |
11: 68,918,527 (GRCm39) |
V265I |
possibly damaging |
Het |
| Cubn |
T |
C |
2: 13,480,961 (GRCm39) |
Y298C |
probably damaging |
Het |
| Dmtn |
G |
A |
14: 70,850,843 (GRCm39) |
R183W |
probably damaging |
Het |
| F2rl2 |
T |
A |
13: 95,833,585 (GRCm39) |
I5N |
possibly damaging |
Het |
| Gstm6 |
T |
A |
3: 107,850,922 (GRCm39) |
I10F |
possibly damaging |
Het |
| Hivep3 |
T |
A |
4: 119,955,705 (GRCm39) |
C1340* |
probably null |
Het |
| Igf1 |
A |
G |
10: 87,700,683 (GRCm39) |
T36A |
probably damaging |
Het |
| Lrch1 |
T |
A |
14: 75,044,985 (GRCm39) |
|
probably benign |
Het |
| Mrpl40 |
A |
T |
16: 18,691,125 (GRCm39) |
I195N |
probably damaging |
Het |
| Myg1 |
G |
C |
15: 102,246,171 (GRCm39) |
G349R |
probably damaging |
Het |
| Ndufc1 |
A |
C |
3: 51,315,564 (GRCm39) |
|
probably null |
Het |
| Nfasc |
T |
C |
1: 132,523,392 (GRCm39) |
N973S |
possibly damaging |
Het |
| Or4f62 |
G |
A |
2: 111,986,787 (GRCm39) |
V164I |
probably benign |
Het |
| Or51a43 |
G |
A |
7: 103,717,675 (GRCm39) |
R188* |
probably null |
Het |
| Or6c212 |
T |
C |
10: 129,558,652 (GRCm39) |
I254V |
probably benign |
Het |
| Or9g19 |
A |
T |
2: 85,600,322 (GRCm39) |
Y59F |
probably damaging |
Het |
| Pkdrej |
C |
A |
15: 85,701,773 (GRCm39) |
E1388* |
probably null |
Het |
| Prrc2b |
T |
A |
2: 32,106,067 (GRCm39) |
D1482E |
probably benign |
Het |
| Relch |
C |
T |
1: 105,673,851 (GRCm39) |
S1080L |
possibly damaging |
Het |
| Sppl2a |
A |
T |
2: 126,754,615 (GRCm39) |
S403R |
possibly damaging |
Het |
| Tespa1 |
A |
G |
10: 130,197,944 (GRCm39) |
D322G |
probably damaging |
Het |
| Tmcc2 |
C |
T |
1: 132,288,569 (GRCm39) |
V373M |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,644,517 (GRCm39) |
N13079S |
possibly damaging |
Het |
| Wdr53 |
A |
G |
16: 32,071,008 (GRCm39) |
I118V |
probably benign |
Het |
| Zdbf2 |
T |
C |
1: 63,344,774 (GRCm39) |
M1051T |
probably benign |
Het |
| Zfp784 |
G |
C |
7: 5,041,357 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Gpr137c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00478:Gpr137c
|
APN |
14 |
45,516,202 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCTGTGGGAGCATGTACCAG -3'
(R):5'- TTGATGTATATTGCCAGATCCCTG -3'
Sequencing Primer
(F):5'- ACTATTTTTCCGGGCACAGAG -3'
(R):5'- CAGATCCCTGGTTCGATGG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation