Incidental Mutation 'R4038:Gpr137c'
| ID |
313809 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpr137c
|
| Ensembl Gene |
ENSMUSG00000049092 |
| Gene Name |
G protein-coupled receptor 137C |
| Synonyms |
TM7SF1L2, LOC380893, 6330416L11Rik |
| MMRRC Submission |
040965-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R4038 (G1)
|
| Quality Score |
155 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
45457174-45520182 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 45457687 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 80
(L80I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154316
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022377]
[ENSMUST00000123879]
[ENSMUST00000128484]
[ENSMUST00000139526]
[ENSMUST00000143609]
[ENSMUST00000146150]
[ENSMUST00000147957]
[ENSMUST00000147853]
[ENSMUST00000153383]
[ENSMUST00000227056]
[ENSMUST00000227086]
[ENSMUST00000227009]
[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 |
possibly damaging
Transcript: ENSMUST00000146150
AA Change: L80I
PolyPhen 2
Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000120015
Gene: ENSMUSG00000049092
AA Change: L80I
| 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 |
possibly damaging
Transcript: ENSMUST00000147957
AA Change: L80I
PolyPhen 2
Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147853
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150648
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153383
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227056
AA Change: L72I
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000226915
AA Change: P20H
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227086
AA Change: L80I
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227009
AA Change: L80I
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226879
|
| Meta Mutation Damage Score |
0.1563 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.1%
|
| Validation Efficiency |
93% (39/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ate1 |
A |
G |
7: 130,106,495 (GRCm39) |
S282P |
probably damaging |
Het |
| Cacna1d |
T |
A |
14: 29,788,040 (GRCm39) |
Q1610L |
probably damaging |
Het |
| Carmil2 |
C |
A |
8: 106,422,039 (GRCm39) |
R1103S |
probably damaging |
Het |
| Clca3a1 |
T |
A |
3: 144,460,994 (GRCm39) |
Y219F |
probably benign |
Het |
| Creb3l3 |
A |
G |
10: 80,925,172 (GRCm39) |
V224A |
probably benign |
Het |
| Crnkl1 |
T |
A |
2: 145,774,247 (GRCm39) |
D72V |
possibly damaging |
Het |
| Dhcr24 |
T |
C |
4: 106,431,075 (GRCm39) |
F255L |
probably benign |
Het |
| Eef2kmt |
A |
T |
16: 5,063,135 (GRCm39) |
V335D |
probably damaging |
Het |
| Elp2 |
T |
A |
18: 24,767,405 (GRCm39) |
W696R |
probably damaging |
Het |
| Glb1l3 |
A |
C |
9: 26,740,343 (GRCm39) |
M329R |
probably damaging |
Het |
| Gm4787 |
A |
T |
12: 81,425,132 (GRCm39) |
F342Y |
probably damaging |
Het |
| Gpr83 |
A |
G |
9: 14,772,073 (GRCm39) |
I82V |
possibly damaging |
Het |
| Greb1l |
C |
T |
18: 10,515,209 (GRCm39) |
T558I |
possibly damaging |
Het |
| Hnrnpul2 |
T |
A |
19: 8,800,591 (GRCm39) |
|
probably benign |
Het |
| Hspa2 |
T |
C |
12: 76,452,542 (GRCm39) |
V412A |
probably damaging |
Het |
| Iqcd |
T |
C |
5: 120,740,587 (GRCm39) |
V306A |
probably damaging |
Het |
| Lmod3 |
T |
C |
6: 97,225,275 (GRCm39) |
N182S |
probably benign |
Het |
| Metrn |
T |
C |
17: 26,013,984 (GRCm39) |
T281A |
probably benign |
Het |
| Mid1-ps1 |
G |
A |
Y: 90,773,563 (GRCm39) |
|
noncoding transcript |
Het |
| Mmachc |
T |
A |
4: 116,563,215 (GRCm39) |
T47S |
probably damaging |
Het |
| Nfia |
C |
A |
4: 97,909,074 (GRCm39) |
R277S |
probably damaging |
Het |
| Or9m2 |
T |
A |
2: 87,821,262 (GRCm39) |
I269N |
possibly damaging |
Het |
| Pcdha8 |
T |
C |
18: 37,125,914 (GRCm39) |
M132T |
probably benign |
Het |
| Prkaa2 |
T |
C |
4: 104,908,444 (GRCm39) |
N144D |
probably damaging |
Het |
| Ptprf |
C |
T |
4: 118,114,805 (GRCm39) |
R150H |
probably damaging |
Het |
| Sfmbt1 |
T |
G |
14: 30,509,449 (GRCm39) |
D309E |
probably damaging |
Het |
| Skint5 |
G |
T |
4: 113,743,011 (GRCm39) |
T352K |
unknown |
Het |
| Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
| Slc28a2 |
C |
A |
2: 122,284,996 (GRCm39) |
A328E |
probably benign |
Het |
| Ssc4d |
C |
A |
5: 135,999,170 (GRCm39) |
W11L |
possibly damaging |
Het |
| Sycp2 |
C |
A |
2: 178,022,720 (GRCm39) |
M470I |
possibly damaging |
Het |
| Tfap2c |
A |
T |
2: 172,398,110 (GRCm39) |
S413C |
probably damaging |
Het |
| Unc13c |
A |
G |
9: 73,441,188 (GRCm39) |
|
probably null |
Het |
| Vmn1r218 |
T |
C |
13: 23,320,971 (GRCm39) |
V26A |
possibly damaging |
Het |
| Wipf3 |
G |
A |
6: 54,458,813 (GRCm39) |
G56D |
probably damaging |
Het |
| Wiz |
T |
C |
17: 32,578,198 (GRCm39) |
E429G |
probably damaging |
Het |
| Zer1 |
T |
C |
2: 29,997,535 (GRCm39) |
N457S |
probably damaging |
Het |
| Zfp931 |
T |
A |
2: 177,709,777 (GRCm39) |
Q203L |
possibly 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 |
|
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 |
|
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'- TCTGCCAGGTAGAGGTTGAG -3'
Sequencing Primer
(F):5'- TATCAGTGTCCGGGCCG -3'
(R):5'- CCAGGTAGAGGTTGAGGAGAC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation