Incidental Mutation 'IGL02453:Otop2'
ID |
293735 |
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 # |
IGL02453
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
115197989-115223129 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 115215455 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 125
(Y125*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102154
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055490]
[ENSMUST00000103037]
[ENSMUST00000106544]
|
AlphaFold |
Q80SX5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000055490
AA Change: Y125*
|
SMART Domains |
Protein: ENSMUSP00000062109 Gene: ENSMUSG00000050201 AA Change: Y125*
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: ENSMUST00000103037
|
SMART Domains |
Protein: ENSMUSP00000099326 Gene: ENSMUSG00000045288
Domain | Start | End | E-Value | Type |
ANK
|
31 |
60 |
1.83e-3 |
SMART |
ANK
|
64 |
93 |
8.07e-5 |
SMART |
ANK
|
97 |
126 |
6.26e-2 |
SMART |
low complexity region
|
159 |
190 |
N/A |
INTRINSIC |
PDB:3PVL|B
|
295 |
368 |
3e-30 |
PDB |
SAM
|
385 |
449 |
1.34e-4 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000106544
AA Change: Y125*
|
SMART Domains |
Protein: ENSMUSP00000102154 Gene: ENSMUSG00000050201 AA Change: Y125*
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131050
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139466
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap2 |
T |
C |
16: 30,950,075 (GRCm39) |
|
probably null |
Het |
Actr1b |
A |
G |
1: 36,741,588 (GRCm39) |
S51P |
probably damaging |
Het |
Cdhr3 |
T |
C |
12: 33,092,502 (GRCm39) |
Y703C |
probably damaging |
Het |
Col9a1 |
A |
T |
1: 24,218,438 (GRCm39) |
L54F |
unknown |
Het |
Crim1 |
A |
G |
17: 78,651,913 (GRCm39) |
K546E |
probably damaging |
Het |
Dap3 |
A |
G |
3: 88,835,634 (GRCm39) |
V240A |
probably benign |
Het |
Dmtf1l |
G |
T |
X: 125,722,223 (GRCm39) |
S294* |
probably null |
Het |
Dmtf1l |
T |
C |
X: 125,722,686 (GRCm39) |
I140V |
possibly damaging |
Het |
Hadha |
T |
C |
5: 30,349,304 (GRCm39) |
|
probably benign |
Het |
Imp3 |
G |
T |
9: 56,845,293 (GRCm39) |
R168L |
probably benign |
Het |
Or1b1 |
A |
T |
2: 36,995,209 (GRCm39) |
V151E |
probably benign |
Het |
Pacs1 |
A |
G |
19: 5,185,033 (GRCm39) |
W931R |
probably damaging |
Het |
Rasgrf1 |
A |
T |
9: 89,826,813 (GRCm39) |
M141L |
possibly damaging |
Het |
Ryr3 |
C |
A |
2: 112,512,073 (GRCm39) |
|
probably benign |
Het |
Strbp |
A |
T |
2: 37,476,520 (GRCm39) |
|
probably null |
Het |
Sult2a5 |
T |
A |
7: 13,396,432 (GRCm39) |
M173K |
possibly damaging |
Het |
Tmem63a |
G |
A |
1: 180,790,634 (GRCm39) |
V431M |
probably benign |
Het |
Vmn2r114 |
T |
A |
17: 23,530,108 (GRCm39) |
T100S |
probably benign |
Het |
Wdr45 |
T |
C |
X: 7,593,520 (GRCm39) |
|
probably null |
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 |
IGL02986:Otop2
|
APN |
11 |
115,220,393 (GRCm39) |
missense |
probably benign |
0.11 |
IGL03225:Otop2
|
APN |
11 |
115,220,633 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2015-04-16 |