Incidental Mutation 'R9306:Otop3'
| ID |
705230 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Otop3
|
| Ensembl Gene |
ENSMUSG00000018862 |
| Gene Name |
otopetrin 3 |
| Synonyms |
2310011E08Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R9306 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
115225557-115237753 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 115237248 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 571
(V571L)
|
| 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: V590L
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000019006
Gene: ENSMUSG00000018862
AA Change: V590L
| 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 |
probably benign
Transcript: ENSMUST00000106543
AA Change: V571L
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000102153
Gene: ENSMUSG00000018862
AA Change: V571L
| 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 |
|
| Meta Mutation Damage Score |
0.0588 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acte1 |
G |
T |
7: 143,434,902 (GRCm39) |
|
probably null |
Het |
| Adam18 |
G |
A |
8: 25,136,420 (GRCm39) |
S367L |
possibly damaging |
Het |
| Alox12b |
A |
T |
11: 69,060,396 (GRCm39) |
I651F |
possibly damaging |
Het |
| Arfgef2 |
A |
G |
2: 166,723,188 (GRCm39) |
K1543E |
probably benign |
Het |
| Arhgap24 |
A |
G |
5: 102,994,008 (GRCm39) |
I30V |
possibly damaging |
Het |
| Atad2 |
A |
T |
15: 57,959,994 (GRCm39) |
Y1343* |
probably null |
Het |
| Clca3a1 |
A |
G |
3: 144,730,339 (GRCm39) |
Y169H |
probably damaging |
Het |
| Cspg4b |
A |
G |
13: 113,506,010 (GRCm39) |
T2380A |
unknown |
Het |
| Eno1b |
G |
A |
18: 48,180,922 (GRCm39) |
V367I |
probably benign |
Het |
| Fbh1 |
T |
C |
2: 11,772,387 (GRCm39) |
E98G |
probably benign |
Het |
| Fbxw14 |
A |
T |
9: 109,100,280 (GRCm39) |
M458K |
probably benign |
Het |
| Galnt13 |
A |
T |
2: 54,823,569 (GRCm39) |
I382F |
probably benign |
Het |
| Hoxa10 |
T |
C |
6: 52,209,635 (GRCm39) |
T368A |
possibly damaging |
Het |
| Ism2 |
C |
T |
12: 87,333,826 (GRCm39) |
C73Y |
probably benign |
Het |
| Kif15 |
T |
C |
9: 122,807,056 (GRCm39) |
V264A |
probably damaging |
Het |
| Lars1 |
T |
C |
18: 42,358,884 (GRCm39) |
|
probably null |
Het |
| Lmtk2 |
T |
A |
5: 144,119,599 (GRCm39) |
H1353Q |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 40,518,762 (GRCm39) |
C157S |
possibly damaging |
Het |
| Map3k7cl |
A |
G |
16: 87,391,149 (GRCm39) |
D91G |
possibly damaging |
Het |
| Mapk8ip1 |
A |
T |
2: 92,219,428 (GRCm39) |
D134E |
probably benign |
Het |
| Meaf6 |
A |
T |
4: 124,996,766 (GRCm39) |
T159S |
unknown |
Het |
| Moxd1 |
A |
G |
10: 24,128,824 (GRCm39) |
|
probably benign |
Het |
| Mup8 |
T |
A |
4: 60,219,682 (GRCm39) |
E195V |
possibly damaging |
Het |
| Nox4 |
A |
T |
7: 86,896,781 (GRCm39) |
Q48L |
probably benign |
Het |
| Or1j19 |
T |
A |
2: 36,677,407 (GRCm39) |
I290N |
probably damaging |
Het |
| Or52d3 |
T |
A |
7: 104,229,128 (GRCm39) |
W92R |
probably damaging |
Het |
| Or6c219 |
G |
A |
10: 129,781,289 (GRCm39) |
S99F |
probably damaging |
Het |
| Oxr1 |
A |
G |
15: 41,686,861 (GRCm39) |
H581R |
possibly damaging |
Het |
| Pappa2 |
A |
T |
1: 158,764,492 (GRCm39) |
F340I |
probably damaging |
Het |
| Pcdh10 |
G |
A |
3: 45,335,804 (GRCm39) |
G706D |
probably benign |
Het |
| Pdia5 |
A |
T |
16: 35,250,353 (GRCm39) |
V202D |
probably damaging |
Het |
| Pdpn |
G |
A |
4: 143,000,601 (GRCm39) |
T77M |
probably damaging |
Het |
| Phf11 |
T |
A |
14: 59,482,294 (GRCm39) |
D153V |
probably damaging |
Het |
| Pira1 |
T |
A |
7: 3,740,360 (GRCm39) |
Q287L |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,422,599 (GRCm39) |
T1598A |
probably benign |
Het |
| Slc27a6 |
C |
T |
18: 58,742,953 (GRCm39) |
T547I |
possibly damaging |
Het |
| Smoc1 |
G |
A |
12: 81,214,430 (GRCm39) |
V282I |
possibly damaging |
Het |
| Sppl3 |
C |
A |
5: 115,212,922 (GRCm39) |
N50K |
probably benign |
Het |
| Taar5 |
T |
C |
10: 23,846,781 (GRCm39) |
S60P |
possibly damaging |
Het |
| Tgtp2 |
G |
T |
11: 48,949,865 (GRCm39) |
Q236K |
probably benign |
Het |
| Timd5 |
A |
C |
11: 46,419,519 (GRCm39) |
M112L |
probably benign |
Het |
| Vmn1r8 |
T |
A |
6: 57,013,713 (GRCm39) |
W255R |
probably benign |
Het |
| Vmn2r11 |
C |
T |
5: 109,196,831 (GRCm39) |
C547Y |
probably damaging |
Het |
| Vmn2r96 |
A |
G |
17: 18,803,226 (GRCm39) |
T187A |
probably benign |
Het |
| Vwa1 |
G |
A |
4: 155,855,328 (GRCm39) |
P262S |
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 |
|
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 |
|
|
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 |
|
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'- CAGCATCCTGAGATTCATACAGC -3'
(R):5'- CAGTCAGGTTGAGGATAGGTC -3'
Sequencing Primer
(F):5'- GAGATTCATACAGCAGTCTCAGTCTC -3'
(R):5'- TGAGGATAGGTCACTTTGGGAAC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation