Incidental Mutation 'R9119:Gpr137'
| ID |
692703 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpr137
|
| Ensembl Gene |
ENSMUSG00000024958 |
| Gene Name |
G protein-coupled receptor 137 |
| Synonyms |
|
| MMRRC Submission |
068922-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9119 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
6915425-6919818 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 6915811 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 373
(T373I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025908]
[ENSMUST00000025909]
[ENSMUST00000025910]
[ENSMUST00000099774]
[ENSMUST00000099776]
[ENSMUST00000099782]
[ENSMUST00000113423]
[ENSMUST00000113426]
[ENSMUST00000166115]
|
| AlphaFold |
Q80ZU9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025908
|
| SMART Domains |
Protein: ENSMUSP00000025908
Gene: ENSMUSG00000024957
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
2 |
147 |
8.1e-9 |
PFAM |
|
Pfam:Ion_trans_2
|
64 |
145 |
1.7e-21 |
PFAM |
|
Pfam:Ion_trans_2
|
174 |
260 |
5.3e-22 |
PFAM |
|
low complexity region
|
303 |
319 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
390 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025909
AA Change: T373I
PolyPhen 2
Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000025909
Gene: ENSMUSG00000024958
AA Change: T373I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
20 |
N/A |
INTRINSIC |
|
transmembrane domain
|
28 |
50 |
N/A |
INTRINSIC |
|
transmembrane domain
|
62 |
81 |
N/A |
INTRINSIC |
|
transmembrane domain
|
96 |
118 |
N/A |
INTRINSIC |
|
transmembrane domain
|
139 |
161 |
N/A |
INTRINSIC |
|
transmembrane domain
|
176 |
198 |
N/A |
INTRINSIC |
|
transmembrane domain
|
219 |
241 |
N/A |
INTRINSIC |
|
transmembrane domain
|
273 |
295 |
N/A |
INTRINSIC |
|
low complexity region
|
338 |
356 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025910
|
| SMART Domains |
Protein: ENSMUSP00000025910
Gene: ENSMUSG00000024959
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Bcl-2_BAD
|
43 |
204 |
5e-93 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099774
AA Change: T191I
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000097362
Gene: ENSMUSG00000024958
AA Change: T191I
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
38 |
60 |
N/A |
INTRINSIC |
|
transmembrane domain
|
91 |
113 |
N/A |
INTRINSIC |
|
low complexity region
|
156 |
174 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000097364
Gene: ENSMUSG00000024958
AA Change: T281I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
20 |
N/A |
INTRINSIC |
|
transmembrane domain
|
26 |
48 |
N/A |
INTRINSIC |
|
transmembrane domain
|
61 |
80 |
N/A |
INTRINSIC |
|
transmembrane domain
|
95 |
117 |
N/A |
INTRINSIC |
|
transmembrane domain
|
129 |
151 |
N/A |
INTRINSIC |
|
transmembrane domain
|
181 |
203 |
N/A |
INTRINSIC |
|
low complexity region
|
246 |
264 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099782
AA Change: T359I
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000097370
Gene: ENSMUSG00000024958
AA Change: T359I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
65 |
76 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
|
transmembrane domain
|
122 |
144 |
N/A |
INTRINSIC |
|
transmembrane domain
|
162 |
184 |
N/A |
INTRINSIC |
|
transmembrane domain
|
205 |
227 |
N/A |
INTRINSIC |
|
transmembrane domain
|
259 |
281 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
342 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113423
|
| SMART Domains |
Protein: ENSMUSP00000109050
Gene: ENSMUSG00000024959
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Bcl-2_BAD
|
1 |
162 |
9.1e-92 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113426
|
| SMART Domains |
Protein: ENSMUSP00000109053
Gene: ENSMUSG00000024959
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Bcl-2_BAD
|
43 |
172 |
5.7e-66 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141410
|
| SMART Domains |
Protein: ENSMUSP00000114597
Gene: ENSMUSG00000024959
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Bcl-2_BAD
|
1 |
134 |
2.9e-62 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166115
AA Change: T373I
PolyPhen 2
Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000130969
Gene: ENSMUSG00000024958
AA Change: T373I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
20 |
N/A |
INTRINSIC |
|
transmembrane domain
|
28 |
50 |
N/A |
INTRINSIC |
|
transmembrane domain
|
62 |
81 |
N/A |
INTRINSIC |
|
transmembrane domain
|
96 |
118 |
N/A |
INTRINSIC |
|
transmembrane domain
|
139 |
161 |
N/A |
INTRINSIC |
|
transmembrane domain
|
176 |
198 |
N/A |
INTRINSIC |
|
transmembrane domain
|
219 |
241 |
N/A |
INTRINSIC |
|
transmembrane domain
|
273 |
295 |
N/A |
INTRINSIC |
|
low complexity region
|
338 |
356 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (42/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310061I04Rik |
C |
G |
17: 36,203,963 (GRCm39) |
S185T |
probably benign |
Het |
| Aass |
A |
T |
6: 23,094,000 (GRCm39) |
M517K |
probably benign |
Het |
| Abcc4 |
A |
G |
14: 118,868,442 (GRCm39) |
V245A |
probably benign |
Het |
| Adgrv1 |
A |
G |
13: 81,658,995 (GRCm39) |
V2783A |
probably damaging |
Het |
| Anxa3 |
T |
A |
5: 96,976,557 (GRCm39) |
I181N |
|
Het |
| Ap4m1 |
T |
A |
5: 138,174,303 (GRCm39) |
|
probably benign |
Het |
| C1ql1 |
T |
A |
11: 102,836,879 (GRCm39) |
K137* |
probably null |
Het |
| Camkmt |
T |
A |
17: 85,403,988 (GRCm39) |
L70Q |
probably damaging |
Het |
| Ceacam18 |
T |
C |
7: 43,288,909 (GRCm39) |
L220P |
probably benign |
Het |
| Celsr2 |
C |
T |
3: 108,309,288 (GRCm39) |
A1656T |
possibly damaging |
Het |
| Dnah6 |
T |
C |
6: 73,037,186 (GRCm39) |
N3352S |
possibly damaging |
Het |
| Fbxo40 |
C |
A |
16: 36,786,457 (GRCm39) |
R704L |
probably damaging |
Het |
| Fcho1 |
C |
T |
8: 72,164,712 (GRCm39) |
G523E |
possibly damaging |
Het |
| Gas2l3 |
T |
C |
10: 89,249,319 (GRCm39) |
T600A |
possibly damaging |
Het |
| Ggh |
T |
A |
4: 20,057,955 (GRCm39) |
M172K |
probably damaging |
Het |
| Kpna2rt |
T |
C |
17: 90,217,621 (GRCm39) |
K42E |
probably damaging |
Het |
| Mtnr1a |
G |
A |
8: 45,541,003 (GRCm39) |
M321I |
probably benign |
Het |
| Nebl |
T |
G |
2: 17,405,370 (GRCm39) |
N383T |
probably damaging |
Het |
| Nob1 |
A |
G |
8: 108,142,776 (GRCm39) |
S302P |
probably damaging |
Het |
| Ofcc1 |
A |
T |
13: 40,334,016 (GRCm39) |
H358Q |
probably benign |
Het |
| Or6b3 |
G |
T |
1: 92,438,904 (GRCm39) |
T282K |
probably damaging |
Het |
| Pkd1l1 |
G |
A |
11: 8,829,107 (GRCm39) |
T1495I |
|
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Plcb4 |
G |
A |
2: 135,809,872 (GRCm39) |
E609K |
probably damaging |
Het |
| Plxnd1 |
A |
T |
6: 115,932,832 (GRCm39) |
|
probably benign |
Het |
| Prdm2 |
G |
A |
4: 142,858,449 (GRCm39) |
Q1614* |
probably null |
Het |
| Psg21 |
T |
G |
7: 18,381,409 (GRCm39) |
K378T |
probably benign |
Het |
| Ptprh |
T |
A |
7: 4,555,712 (GRCm39) |
N749I |
probably benign |
Het |
| Ric8b |
T |
G |
10: 84,783,334 (GRCm39) |
V64G |
possibly damaging |
Het |
| Sbf2 |
T |
C |
7: 109,911,292 (GRCm39) |
T1793A |
possibly damaging |
Het |
| Scgb1c1 |
A |
G |
7: 140,426,135 (GRCm39) |
H77R |
probably null |
Het |
| Sfswap |
C |
A |
5: 129,591,829 (GRCm39) |
T282N |
probably benign |
Het |
| Sorcs3 |
A |
T |
19: 48,642,433 (GRCm39) |
Y362F |
possibly damaging |
Het |
| Spata31h1 |
T |
C |
10: 82,131,553 (GRCm39) |
T486A |
probably benign |
Het |
| Tpm4 |
A |
G |
8: 72,892,525 (GRCm39) |
N76D |
probably benign |
Het |
| Tpr |
T |
A |
1: 150,279,753 (GRCm39) |
L294Q |
probably damaging |
Het |
| Ttc3 |
C |
T |
16: 94,192,950 (GRCm39) |
T237I |
probably damaging |
Het |
| Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
probably damaging |
Het |
| Ugt2a2 |
A |
G |
5: 87,610,834 (GRCm39) |
V334A |
probably damaging |
Het |
| Usp38 |
A |
T |
8: 81,711,228 (GRCm39) |
F936I |
probably damaging |
Het |
| Utp14b |
A |
G |
1: 78,643,025 (GRCm39) |
K308E |
probably damaging |
Het |
| Vmn2r19 |
C |
T |
6: 123,292,527 (GRCm39) |
P190S |
possibly damaging |
Het |
| Zbbx |
T |
C |
3: 74,985,897 (GRCm39) |
E385G |
probably damaging |
Het |
|
| Other mutations in Gpr137 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Gpr137
|
APN |
19 |
6,917,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0355:Gpr137
|
UTSW |
19 |
6,916,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1465:Gpr137
|
UTSW |
19 |
6,915,812 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1465:Gpr137
|
UTSW |
19 |
6,915,812 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1789:Gpr137
|
UTSW |
19 |
6,919,425 (GRCm39) |
unclassified |
probably benign |
|
|
R4080:Gpr137
|
UTSW |
19 |
6,917,791 (GRCm39) |
intron |
probably benign |
|
|
R5673:Gpr137
|
UTSW |
19 |
6,916,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5802:Gpr137
|
UTSW |
19 |
6,919,373 (GRCm39) |
nonsense |
probably null |
|
|
R5924:Gpr137
|
UTSW |
19 |
6,916,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7172:Gpr137
|
UTSW |
19 |
6,917,049 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7448:Gpr137
|
UTSW |
19 |
6,917,726 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8032:Gpr137
|
UTSW |
19 |
6,919,480 (GRCm39) |
missense |
unknown |
|
|
R8204:Gpr137
|
UTSW |
19 |
6,917,746 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8523:Gpr137
|
UTSW |
19 |
6,917,803 (GRCm39) |
nonsense |
probably null |
|
|
R8775:Gpr137
|
UTSW |
19 |
6,915,800 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8775-TAIL:Gpr137
|
UTSW |
19 |
6,915,800 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGCTCACTACAATAGGAGCGG -3'
(R):5'- AGGGCTCTCTGTTTCTCAGC -3'
Sequencing Primer
(F):5'- GAGAAGCAGCCACAGTCTCCTG -3'
(R):5'- AGCCTCTCCCATCTCAAGAATGTG -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation