Incidental Mutation 'R3034:Gpr137c'
| ID |
264796 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpr137c
|
| Ensembl Gene |
ENSMUSG00000049092 |
| Gene Name |
G protein-coupled receptor 137C |
| Synonyms |
TM7SF1L2, LOC380893, 6330416L11Rik |
| MMRRC Submission |
040550-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R3034 (G1)
|
| Quality Score |
215 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
45457174-45520182 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 45457733 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 95
(S95L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154316
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022377]
[ENSMUST00000123879]
[ENSMUST00000128484]
[ENSMUST00000139526]
[ENSMUST00000143609]
[ENSMUST00000146150]
[ENSMUST00000147853]
[ENSMUST00000153383]
[ENSMUST00000147957]
[ENSMUST00000227009]
[ENSMUST00000227086]
[ENSMUST00000227056]
[ENSMUST00000226879]
|
| AlphaFold |
E9Q343 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022377
|
| SMART Domains |
Protein: ENSMUSP00000022377
Gene: ENSMUSG00000021830
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
298 |
308 |
N/A |
INTRINSIC |
|
low complexity region
|
354 |
367 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
394 |
496 |
1.9e-12 |
PFAM |
|
Pfam:Thioredoxin_6
|
534 |
723 |
2.3e-28 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123118
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123879
|
| SMART Domains |
Protein: ENSMUSP00000123023
Gene: ENSMUSG00000021830
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
298 |
308 |
N/A |
INTRINSIC |
|
low complexity region
|
354 |
367 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
394 |
496 |
1.9e-12 |
PFAM |
|
Pfam:Thioredoxin_6
|
534 |
723 |
2.3e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128484
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139526
|
| SMART Domains |
Protein: ENSMUSP00000120287
Gene: ENSMUSG00000021830
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
298 |
308 |
N/A |
INTRINSIC |
|
low complexity region
|
354 |
367 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
394 |
496 |
1e-12 |
PFAM |
|
Pfam:Thioredoxin_6
|
534 |
723 |
7.3e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143609
|
| SMART Domains |
Protein: ENSMUSP00000122128
Gene: ENSMUSG00000021830
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146150
AA Change: S95L
PolyPhen 2
Score 0.335 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000120015
Gene: ENSMUSG00000049092
AA Change: S95L
| 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: ENSMUST00000147853
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153383
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000147957
AA Change: S95L
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150648
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227009
AA Change: S95L
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227086
AA Change: S95L
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227056
AA Change: S87L
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
silent
Transcript: ENSMUST00000226915
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226879
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox12e |
T |
C |
11: 70,207,079 (GRCm39) |
I576V |
probably benign |
Het |
| Apol7a |
T |
G |
15: 77,273,923 (GRCm39) |
I180L |
probably benign |
Het |
| Aptx |
T |
C |
4: 40,694,994 (GRCm39) |
N114S |
probably benign |
Het |
| Bltp3a |
T |
A |
17: 28,113,720 (GRCm39) |
D1297E |
probably damaging |
Het |
| Cd40 |
T |
A |
2: 164,904,235 (GRCm39) |
S65R |
probably benign |
Het |
| Cdh23 |
C |
T |
10: 60,244,789 (GRCm39) |
|
probably benign |
Het |
| Coro7 |
G |
A |
16: 4,450,155 (GRCm39) |
R565W |
probably damaging |
Het |
| Cpt1a |
C |
T |
19: 3,428,390 (GRCm39) |
T588M |
probably damaging |
Het |
| Defb23 |
A |
G |
2: 152,301,189 (GRCm39) |
S128P |
possibly damaging |
Het |
| Dgki |
G |
A |
6: 37,064,605 (GRCm39) |
H250Y |
probably damaging |
Het |
| Fgr |
T |
C |
4: 132,725,807 (GRCm39) |
|
probably null |
Het |
| Fkbp15 |
T |
C |
4: 62,225,129 (GRCm39) |
|
probably null |
Het |
| Kirrel1 |
T |
C |
3: 86,990,746 (GRCm39) |
D692G |
possibly damaging |
Het |
| Krt1 |
C |
A |
15: 101,759,068 (GRCm39) |
R32L |
unknown |
Het |
| Lama2 |
C |
T |
10: 26,877,231 (GRCm39) |
E2652K |
probably benign |
Het |
| Mbl1 |
C |
A |
14: 40,880,790 (GRCm39) |
S226Y |
probably damaging |
Het |
| Mrps28 |
T |
A |
3: 8,988,675 (GRCm39) |
D61V |
probably benign |
Het |
| Mthfd1 |
A |
G |
12: 76,336,244 (GRCm39) |
K299E |
probably benign |
Het |
| Myo1b |
A |
G |
1: 51,812,406 (GRCm39) |
Y738H |
possibly damaging |
Het |
| Myo5c |
A |
G |
9: 75,193,859 (GRCm39) |
T1205A |
probably benign |
Het |
| Nfatc2 |
C |
T |
2: 168,376,940 (GRCm39) |
G317S |
probably damaging |
Het |
| Nln |
C |
T |
13: 104,173,947 (GRCm39) |
V525I |
possibly damaging |
Het |
| Nrap |
T |
C |
19: 56,352,437 (GRCm39) |
E549G |
probably damaging |
Het |
| Nwd2 |
T |
A |
5: 63,957,446 (GRCm39) |
Y259N |
probably damaging |
Het |
| Oas3 |
T |
C |
5: 120,909,121 (GRCm39) |
D275G |
probably damaging |
Het |
| Or14a256 |
A |
T |
7: 86,264,970 (GRCm39) |
D294E |
possibly damaging |
Het |
| Ovch2 |
A |
G |
7: 107,384,699 (GRCm39) |
S473P |
probably damaging |
Het |
| Pde8b |
T |
A |
13: 95,359,275 (GRCm39) |
Y16F |
probably damaging |
Het |
| Pmfbp1 |
A |
T |
8: 110,247,553 (GRCm39) |
|
probably null |
Het |
| Pmvk |
T |
C |
3: 89,375,824 (GRCm39) |
V74A |
probably damaging |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rbm26 |
T |
A |
14: 105,390,881 (GRCm39) |
T202S |
unknown |
Het |
| Rheb |
C |
T |
5: 25,008,721 (GRCm39) |
E166K |
probably damaging |
Het |
| Rnf5 |
A |
G |
17: 34,822,332 (GRCm39) |
V39A |
possibly damaging |
Het |
| Scn7a |
T |
C |
2: 66,513,152 (GRCm39) |
Y1168C |
probably damaging |
Het |
| Tas2r114 |
A |
G |
6: 131,666,611 (GRCm39) |
I139T |
probably benign |
Het |
| Tma7 |
T |
C |
9: 108,911,274 (GRCm39) |
|
probably benign |
Het |
| Tmem181a |
T |
A |
17: 6,330,901 (GRCm39) |
S13T |
possibly damaging |
Het |
| Tmem62 |
C |
T |
2: 120,809,605 (GRCm39) |
|
probably benign |
Het |
| Trim71 |
T |
C |
9: 114,341,912 (GRCm39) |
D790G |
probably damaging |
Het |
| Trp53tg5 |
T |
C |
2: 164,313,219 (GRCm39) |
K152R |
probably benign |
Het |
| Zdbf2 |
C |
A |
1: 63,343,364 (GRCm39) |
A581E |
probably damaging |
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 |
|
R2428:Gpr137c
|
UTSW |
14 |
45,516,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- CCTCATGAGGGTATCAGTGTCC -3'
(R):5'- ACAGGAGTGTCTCAGTGTCC -3'
Sequencing Primer
(F):5'- TATCAGTGTCCGGGCCG -3'
(R):5'- AGTGTCTCAGTGTCCCCAGAC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation