Incidental Mutation 'IGL03225:Otop2'
| ID |
413773 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Otop2
|
| Ensembl Gene |
ENSMUSG00000050201 |
| Gene Name |
otopetrin 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03225
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
115197989-115223129 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 115220633 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 491
(R491H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102154
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019006]
[ENSMUST00000055490]
[ENSMUST00000106543]
[ENSMUST00000106544]
|
| AlphaFold |
Q80SX5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019006
|
| SMART Domains |
Protein: ENSMUSP00000019006
Gene: ENSMUSG00000018862
| 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 damaging
Transcript: ENSMUST00000055490
AA Change: R491H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000062109
Gene: ENSMUSG00000050201
AA Change: R491H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
30 |
52 |
N/A |
INTRINSIC |
|
transmembrane domain
|
62 |
81 |
N/A |
INTRINSIC |
|
Pfam:Otopetrin
|
102 |
225 |
1e-18 |
PFAM |
|
Pfam:Otopetrin
|
214 |
451 |
5.5e-20 |
PFAM |
|
Pfam:Otopetrin
|
479 |
550 |
8.9e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106543
|
| SMART Domains |
Protein: ENSMUSP00000102153
Gene: ENSMUSG00000018862
| 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106544
AA Change: R491H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102154
Gene: ENSMUSG00000050201
AA Change: R491H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
30 |
52 |
N/A |
INTRINSIC |
|
transmembrane domain
|
62 |
81 |
N/A |
INTRINSIC |
|
Pfam:Otopetrin
|
102 |
450 |
7.9e-54 |
PFAM |
|
Pfam:Otopetrin
|
476 |
550 |
2e-16 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405O20Rik |
A |
G |
7: 50,249,668 (GRCm39) |
K234R |
probably benign |
Het |
| Adam21 |
T |
C |
12: 81,606,043 (GRCm39) |
E573G |
probably benign |
Het |
| Aox4 |
A |
T |
1: 58,286,386 (GRCm39) |
I673F |
possibly damaging |
Het |
| Arfgef1 |
A |
T |
1: 10,224,543 (GRCm39) |
I1431N |
probably damaging |
Het |
| Cask |
A |
G |
X: 13,531,760 (GRCm39) |
M103V |
possibly damaging |
Het |
| Clba1 |
T |
C |
12: 112,779,211 (GRCm39) |
Y283H |
probably damaging |
Het |
| Fam83h |
T |
C |
15: 75,875,150 (GRCm39) |
E729G |
probably damaging |
Het |
| Gnb4 |
T |
C |
3: 32,641,881 (GRCm39) |
T249A |
probably damaging |
Het |
| Gpr12 |
A |
G |
5: 146,520,761 (GRCm39) |
S54P |
probably damaging |
Het |
| Krt20 |
A |
G |
11: 99,322,756 (GRCm39) |
V293A |
probably damaging |
Het |
| Lonrf1 |
A |
G |
8: 36,689,855 (GRCm39) |
V706A |
probably damaging |
Het |
| Lrrc58 |
T |
G |
16: 37,701,632 (GRCm39) |
C303W |
probably damaging |
Het |
| Mbnl2 |
A |
G |
14: 120,622,875 (GRCm39) |
T138A |
probably benign |
Het |
| Mss51 |
G |
A |
14: 20,537,205 (GRCm39) |
R88* |
probably null |
Het |
| Nup214 |
T |
A |
2: 31,924,423 (GRCm39) |
S146T |
probably damaging |
Het |
| Podnl1 |
G |
A |
8: 84,858,818 (GRCm39) |
V548I |
probably benign |
Het |
| Prkcz |
A |
T |
4: 155,352,652 (GRCm39) |
F492I |
probably damaging |
Het |
| Sgtb |
T |
C |
13: 104,268,453 (GRCm39) |
L163P |
probably damaging |
Het |
| Spsb3 |
T |
C |
17: 25,110,045 (GRCm39) |
I365T |
possibly damaging |
Het |
| Tmem273 |
A |
G |
14: 32,527,133 (GRCm39) |
I33M |
probably damaging |
Het |
| Trio |
T |
C |
15: 27,902,781 (GRCm39) |
I227V |
probably benign |
Het |
| Vdac1 |
G |
A |
11: 52,267,482 (GRCm39) |
R93H |
probably benign |
Het |
| Wasf2 |
A |
G |
4: 132,903,857 (GRCm39) |
T22A |
probably benign |
Het |
|
| Other mutations in Otop2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00671:Otop2
|
APN |
11 |
115,222,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01832:Otop2
|
APN |
11 |
115,217,769 (GRCm39) |
missense |
probably benign |
|
|
IGL02114:Otop2
|
APN |
11 |
115,217,806 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02432:Otop2
|
APN |
11 |
115,219,988 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02453:Otop2
|
APN |
11 |
115,215,455 (GRCm39) |
nonsense |
probably null |
|
|
IGL02986:Otop2
|
APN |
11 |
115,220,393 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0402:Otop2
|
UTSW |
11 |
115,217,234 (GRCm39) |
splice site |
probably benign |
|
|
R0553:Otop2
|
UTSW |
11 |
115,220,288 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1209:Otop2
|
UTSW |
11 |
115,215,469 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1497:Otop2
|
UTSW |
11 |
115,220,675 (GRCm39) |
splice site |
probably null |
|
|
R1765:Otop2
|
UTSW |
11 |
115,215,504 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1822:Otop2
|
UTSW |
11 |
115,215,454 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1926:Otop2
|
UTSW |
11 |
115,217,781 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2151:Otop2
|
UTSW |
11 |
115,220,237 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2192:Otop2
|
UTSW |
11 |
115,217,757 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2350:Otop2
|
UTSW |
11 |
115,217,676 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2352:Otop2
|
UTSW |
11 |
115,219,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2915:Otop2
|
UTSW |
11 |
115,219,972 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3614:Otop2
|
UTSW |
11 |
115,219,972 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4060:Otop2
|
UTSW |
11 |
115,220,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4061:Otop2
|
UTSW |
11 |
115,220,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4062:Otop2
|
UTSW |
11 |
115,220,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4063:Otop2
|
UTSW |
11 |
115,220,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4064:Otop2
|
UTSW |
11 |
115,220,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4184:Otop2
|
UTSW |
11 |
115,220,671 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4844:Otop2
|
UTSW |
11 |
115,214,201 (GRCm39) |
splice site |
probably null |
|
|
R5681:Otop2
|
UTSW |
11 |
115,217,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5713:Otop2
|
UTSW |
11 |
115,219,870 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6738:Otop2
|
UTSW |
11 |
115,220,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6975:Otop2
|
UTSW |
11 |
115,220,152 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8866:Otop2
|
UTSW |
11 |
115,220,354 (GRCm39) |
missense |
probably benign |
|
|
R9017:Otop2
|
UTSW |
11 |
115,214,431 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9062:Otop2
|
UTSW |
11 |
115,214,465 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9205:Otop2
|
UTSW |
11 |
115,219,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9524:Otop2
|
UTSW |
11 |
115,214,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF013:Otop2
|
UTSW |
11 |
115,214,492 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2016-08-02 |
Incidental Mutation