Incidental Mutation 'R8281:Otop3'
| ID |
638211 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Otop3
|
| Ensembl Gene |
ENSMUSG00000018862 |
| Gene Name |
otopetrin 3 |
| Synonyms |
2310011E08Rik |
| MMRRC Submission |
067704-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R8281 (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 115235901 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 511
(I511T)
|
| 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: I530T
PolyPhen 2
Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000019006
Gene: ENSMUSG00000018862
AA Change: I530T
| 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: I511T
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102153
Gene: ENSMUSG00000018862
AA Change: I511T
| 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: 99.4%
|
| Validation Efficiency |
98% (44/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam7 |
G |
A |
14: 68,745,334 (GRCm39) |
T630I |
possibly damaging |
Het |
| Adgrf3 |
T |
C |
5: 30,402,301 (GRCm39) |
S576G |
possibly damaging |
Het |
| Asxl1 |
A |
G |
2: 153,241,321 (GRCm39) |
R625G |
probably damaging |
Het |
| Atp1a1 |
A |
G |
3: 101,486,940 (GRCm39) |
F916L |
probably benign |
Het |
| Axl |
C |
T |
7: 25,463,379 (GRCm39) |
D633N |
probably benign |
Het |
| Ccdc168 |
T |
G |
1: 44,095,698 (GRCm39) |
D1800A |
possibly damaging |
Het |
| Chd9 |
A |
G |
8: 91,763,225 (GRCm39) |
D2350G |
probably damaging |
Het |
| Cic |
G |
A |
7: 24,971,249 (GRCm39) |
V327I |
probably benign |
Het |
| Crym |
T |
A |
7: 119,801,250 (GRCm39) |
|
probably benign |
Het |
| Cyp3a13 |
G |
C |
5: 137,892,559 (GRCm39) |
S495C |
probably benign |
Het |
| D5Ertd579e |
A |
T |
5: 36,770,664 (GRCm39) |
F137I |
|
Het |
| Dip2a |
T |
C |
10: 76,112,438 (GRCm39) |
T1087A |
probably damaging |
Het |
| Drc7 |
G |
A |
8: 95,788,805 (GRCm39) |
E288K |
possibly damaging |
Het |
| Epb41l4a |
T |
C |
18: 34,011,998 (GRCm39) |
E174G |
probably damaging |
Het |
| Ern2 |
T |
C |
7: 121,769,483 (GRCm39) |
R848G |
probably damaging |
Het |
| F13b |
G |
T |
1: 139,438,689 (GRCm39) |
R364S |
probably benign |
Het |
| F2rl1 |
A |
G |
13: 95,650,585 (GRCm39) |
L99P |
probably damaging |
Het |
| Fam193a |
C |
A |
5: 34,600,780 (GRCm39) |
N171K |
unknown |
Het |
| Fst |
A |
G |
13: 114,591,777 (GRCm39) |
S201P |
probably benign |
Het |
| Gm10110 |
C |
T |
14: 90,135,677 (GRCm39) |
V76M |
noncoding transcript |
Het |
| Gm8232 |
A |
G |
14: 44,674,548 (GRCm39) |
I182V |
|
Het |
| Iqca1l |
T |
A |
5: 24,754,008 (GRCm39) |
H417L |
probably benign |
Het |
| Kalrn |
C |
T |
16: 33,855,431 (GRCm39) |
W1956* |
probably null |
Het |
| Klk1b16 |
A |
G |
7: 43,790,971 (GRCm39) |
M258V |
probably benign |
Het |
| Lta4h |
G |
T |
10: 93,289,456 (GRCm39) |
D29Y |
probably damaging |
Het |
| Marchf7 |
C |
T |
2: 60,064,873 (GRCm39) |
S383L |
probably benign |
Het |
| Mob3c |
T |
C |
4: 115,688,635 (GRCm39) |
I56T |
probably benign |
Het |
| Msl2 |
T |
C |
9: 100,978,894 (GRCm39) |
S423P |
probably benign |
Het |
| Pbld2 |
T |
G |
10: 62,883,805 (GRCm39) |
L90R |
probably damaging |
Het |
| Pcdh8 |
A |
G |
14: 80,006,919 (GRCm39) |
V548A |
probably damaging |
Het |
| Peg10 |
CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC |
CATC |
6: 4,756,431 (GRCm39) |
|
probably benign |
Het |
| Plch2 |
T |
A |
4: 155,091,430 (GRCm39) |
M228L |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,523,117 (GRCm39) |
C1180R |
probably damaging |
Het |
| Rasl2-9 |
A |
T |
7: 5,128,351 (GRCm39) |
L193* |
probably null |
Het |
| Rbp3 |
A |
G |
14: 33,678,320 (GRCm39) |
K756R |
probably benign |
Het |
| Rp1 |
T |
C |
1: 4,418,139 (GRCm39) |
E991G |
probably damaging |
Het |
| Slc12a7 |
G |
A |
13: 73,938,796 (GRCm39) |
R191H |
probably damaging |
Het |
| Spaca6 |
A |
G |
17: 18,052,321 (GRCm39) |
N87S |
possibly damaging |
Het |
| Spata31e5 |
C |
T |
1: 28,817,225 (GRCm39) |
C269Y |
possibly damaging |
Het |
| Speer1h |
T |
A |
5: 11,647,646 (GRCm39) |
M128K |
probably damaging |
Het |
| Stab2 |
A |
T |
10: 86,709,728 (GRCm39) |
V1639E |
probably damaging |
Het |
| Thpo |
T |
C |
16: 20,544,525 (GRCm39) |
N235S |
possibly damaging |
Het |
| Tmem63b |
T |
A |
17: 45,971,722 (GRCm39) |
H831L |
probably benign |
Het |
| Tomm20l |
T |
C |
12: 71,158,241 (GRCm39) |
V8A |
probably benign |
Het |
| Trav13-5 |
A |
G |
14: 54,032,918 (GRCm39) |
R3G |
possibly damaging |
Het |
| Vill |
T |
C |
9: 118,887,547 (GRCm39) |
S104P |
probably damaging |
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 |
|
R7639:Otop3
|
UTSW |
11 |
115,235,187 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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 |
|
|
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'- TCTTCATCATCGAGGGCCTG -3'
(R):5'- AGGGAGCTGCTGGAGATATTCC -3'
Sequencing Primer
(F):5'- ATCGAGGGCCTGCACCG -3'
(R):5'- TGGAGATATTCCTGGCTCTCAAGAAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation