Incidental Mutation 'R7639:Otop3'
| ID |
590139 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Otop3
|
| Ensembl Gene |
ENSMUSG00000018862 |
| Gene Name |
otopetrin 3 |
| Synonyms |
2310011E08Rik |
| MMRRC Submission |
045697-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R7639 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
115225557-115237753 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 115235187 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 273
(M273T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102153
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019006]
[ENSMUST00000044152]
[ENSMUST00000106542]
[ENSMUST00000106543]
|
| AlphaFold |
Q80UF9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019006
AA Change: M292T
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000019006
Gene: ENSMUSG00000018862
AA Change: M292T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
19 |
N/A |
INTRINSIC |
|
transmembrane domain
|
70 |
92 |
N/A |
INTRINSIC |
|
transmembrane domain
|
102 |
120 |
N/A |
INTRINSIC |
|
Pfam:Otopetrin
|
142 |
483 |
3e-40 |
PFAM |
|
Pfam:Otopetrin
|
506 |
583 |
1.2e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044152
|
| SMART Domains |
Protein: ENSMUSP00000043789
Gene: ENSMUSG00000034586
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dymeclin
|
1 |
763 |
3.9e-242 |
PFAM |
|
Pfam:Hid1
|
1 |
784 |
3.1e-260 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106542
|
| SMART Domains |
Protein: ENSMUSP00000102152
Gene: ENSMUSG00000034586
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dymeclin
|
1 |
764 |
7.5e-275 |
PFAM |
|
Pfam:Hid1
|
1 |
785 |
2.3e-261 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106543
AA Change: M273T
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102153
Gene: ENSMUSG00000018862
AA Change: M273T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
19 |
N/A |
INTRINSIC |
|
transmembrane domain
|
70 |
92 |
N/A |
INTRINSIC |
|
transmembrane domain
|
102 |
120 |
N/A |
INTRINSIC |
|
transmembrane domain
|
141 |
163 |
N/A |
INTRINSIC |
|
transmembrane domain
|
178 |
195 |
N/A |
INTRINSIC |
|
transmembrane domain
|
208 |
227 |
N/A |
INTRINSIC |
|
Pfam:Otopetrin
|
241 |
462 |
2.1e-20 |
PFAM |
|
Pfam:Otopetrin
|
487 |
564 |
2.2e-12 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (45/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg5 |
T |
A |
17: 84,977,531 (GRCm39) |
M381L |
probably benign |
Het |
| Abl1 |
T |
A |
2: 31,669,173 (GRCm39) |
L184Q |
probably damaging |
Het |
| Atp8b1 |
A |
G |
18: 64,697,614 (GRCm39) |
V410A |
possibly damaging |
Het |
| Bhmt2 |
C |
T |
13: 93,799,822 (GRCm39) |
G205R |
probably damaging |
Het |
| Bicd1 |
A |
G |
6: 149,414,502 (GRCm39) |
D405G |
possibly damaging |
Het |
| Brip1 |
A |
T |
11: 86,043,648 (GRCm39) |
|
probably null |
Het |
| Ccdc180 |
A |
T |
4: 45,928,043 (GRCm39) |
I1193F |
possibly damaging |
Het |
| Cdc14b |
A |
G |
13: 64,353,143 (GRCm39) |
C478R |
possibly damaging |
Het |
| Celsr1 |
C |
T |
15: 85,814,073 (GRCm39) |
E1950K |
probably benign |
Het |
| Cnot7 |
A |
G |
8: 40,960,494 (GRCm39) |
|
probably null |
Het |
| Defa34 |
A |
T |
8: 22,155,883 (GRCm39) |
K24I |
probably benign |
Het |
| Dsg4 |
G |
T |
18: 20,582,769 (GRCm39) |
D136Y |
probably damaging |
Het |
| Dync2h1 |
C |
A |
9: 7,141,254 (GRCm39) |
V1258F |
probably damaging |
Het |
| Erbb3 |
A |
G |
10: 128,405,716 (GRCm39) |
S1181P |
probably damaging |
Het |
| Evl |
A |
G |
12: 108,652,362 (GRCm39) |
D366G |
probably damaging |
Het |
| Fam234b |
A |
T |
6: 135,202,798 (GRCm39) |
|
probably null |
Het |
| Fanca |
A |
G |
8: 124,018,134 (GRCm39) |
|
probably null |
Het |
| Fbxo46 |
T |
A |
7: 18,870,560 (GRCm39) |
V393E |
probably damaging |
Het |
| Gkap1 |
T |
G |
13: 58,411,784 (GRCm39) |
K63T |
probably damaging |
Het |
| Hfm1 |
T |
A |
5: 107,037,791 (GRCm39) |
D742V |
probably benign |
Het |
| Hfm1 |
A |
G |
5: 107,046,341 (GRCm39) |
V515A |
possibly damaging |
Het |
| Itga10 |
G |
A |
3: 96,556,898 (GRCm39) |
V207I |
probably benign |
Het |
| Lipi |
T |
A |
16: 75,357,743 (GRCm39) |
Y274F |
probably benign |
Het |
| Mettl8 |
A |
T |
2: 70,812,526 (GRCm39) |
S36R |
probably benign |
Het |
| Miip |
A |
T |
4: 147,947,021 (GRCm39) |
M244K |
probably benign |
Het |
| Muc4 |
C |
G |
16: 32,575,221 (GRCm39) |
Q1269E |
probably benign |
Het |
| Nat10 |
G |
A |
2: 103,573,435 (GRCm39) |
A354V |
probably damaging |
Het |
| Nav1 |
T |
C |
1: 135,398,860 (GRCm39) |
N574S |
probably benign |
Het |
| Nlrc4 |
C |
T |
17: 74,754,952 (GRCm39) |
|
probably null |
Het |
| Oas2 |
C |
T |
5: 120,883,751 (GRCm39) |
W244* |
probably null |
Het |
| Oat |
A |
T |
7: 132,168,530 (GRCm39) |
I163N |
probably damaging |
Het |
| Or7a41 |
A |
G |
10: 78,871,206 (GRCm39) |
D192G |
probably damaging |
Het |
| Poln |
A |
C |
5: 34,290,495 (GRCm39) |
V60G |
possibly damaging |
Het |
| Ppp1r13b |
G |
T |
12: 111,800,049 (GRCm39) |
A699E |
probably damaging |
Het |
| Rims1 |
A |
T |
1: 22,844,750 (GRCm39) |
M19K |
probably benign |
Het |
| Rnf145 |
T |
C |
11: 44,422,184 (GRCm39) |
L89P |
probably damaging |
Het |
| Rock1 |
A |
G |
18: 10,140,244 (GRCm39) |
S116P |
probably damaging |
Het |
| Rtn3 |
C |
T |
19: 7,435,356 (GRCm39) |
C212Y |
probably benign |
Het |
| Smcp |
G |
A |
3: 92,491,797 (GRCm39) |
P17S |
unknown |
Het |
| Syne2 |
A |
C |
12: 75,981,273 (GRCm39) |
E1525A |
probably damaging |
Het |
| Tpra1 |
A |
G |
6: 88,887,158 (GRCm39) |
D172G |
probably benign |
Het |
| Traf2 |
TAGA |
TA |
2: 25,427,100 (GRCm39) |
|
probably null |
Het |
| Trpa1 |
T |
C |
1: 14,957,137 (GRCm39) |
T760A |
probably benign |
Het |
| Unc13c |
T |
A |
9: 73,840,450 (GRCm39) |
S134C |
probably damaging |
Het |
| Zfp729b |
C |
T |
13: 67,739,971 (GRCm39) |
V765I |
probably benign |
Het |
|
| Other mutations in Otop3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:Otop3
|
APN |
11 |
115,235,279 (GRCm39) |
missense |
probably benign |
|
|
IGL00159:Otop3
|
APN |
11 |
115,235,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01372:Otop3
|
APN |
11 |
115,235,930 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL01380:Otop3
|
APN |
11 |
115,237,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01960:Otop3
|
APN |
11 |
115,231,795 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03099:Otop3
|
APN |
11 |
115,230,408 (GRCm39) |
missense |
probably damaging |
0.99 |
|
F5770:Otop3
|
UTSW |
11 |
115,235,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1560:Otop3
|
UTSW |
11 |
115,235,289 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2847:Otop3
|
UTSW |
11 |
115,235,384 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2849:Otop3
|
UTSW |
11 |
115,235,384 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5582:Otop3
|
UTSW |
11 |
115,230,165 (GRCm39) |
missense |
unknown |
|
|
R6383:Otop3
|
UTSW |
11 |
115,235,898 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6601:Otop3
|
UTSW |
11 |
115,230,673 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7001:Otop3
|
UTSW |
11 |
115,230,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7339:Otop3
|
UTSW |
11 |
115,237,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7487:Otop3
|
UTSW |
11 |
115,235,826 (GRCm39) |
missense |
probably benign |
|
|
R7609:Otop3
|
UTSW |
11 |
115,230,546 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7643:Otop3
|
UTSW |
11 |
115,230,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7820:Otop3
|
UTSW |
11 |
115,230,414 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8044:Otop3
|
UTSW |
11 |
115,237,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8110:Otop3
|
UTSW |
11 |
115,230,221 (GRCm39) |
missense |
probably benign |
|
|
R8281:Otop3
|
UTSW |
11 |
115,235,901 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8556:Otop3
|
UTSW |
11 |
115,235,782 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8899:Otop3
|
UTSW |
11 |
115,231,886 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9137:Otop3
|
UTSW |
11 |
115,235,868 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9165:Otop3
|
UTSW |
11 |
115,235,424 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9306:Otop3
|
UTSW |
11 |
115,237,248 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9788:Otop3
|
UTSW |
11 |
115,235,087 (GRCm39) |
missense |
unknown |
|
|
V7580:Otop3
|
UTSW |
11 |
115,235,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
V7581:Otop3
|
UTSW |
11 |
115,235,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
V7582:Otop3
|
UTSW |
11 |
115,235,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
V7583:Otop3
|
UTSW |
11 |
115,235,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0022:Otop3
|
UTSW |
11 |
115,230,693 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Otop3
|
UTSW |
11 |
115,231,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Otop3
|
UTSW |
11 |
115,230,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCCTGTCCAAATCCCGTATG -3'
(R):5'- CCACTCGCTTCGATTTGGAAG -3'
Sequencing Primer
(F):5'- AAATCCCGTATGCTCCAGGAGTG -3'
(R):5'- CTCGCTTCGATTTGGAAGAGCAC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation