Incidental Mutation 'IGL00671:Otop2'
ID |
13666 |
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 # |
IGL00671
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
115197989-115223129 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 115222735 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 539
(N539S)
|
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: N539S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000062109 Gene: ENSMUSG00000050201 AA Change: N539S
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: N539S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102154 Gene: ENSMUSG00000050201 AA Change: N539S
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: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb4 |
A |
T |
5: 8,980,745 (GRCm39) |
R576* |
probably null |
Het |
Astl |
T |
C |
2: 127,185,941 (GRCm39) |
|
probably null |
Het |
Atp6v1h |
T |
C |
1: 5,194,694 (GRCm39) |
|
probably null |
Het |
Avpr1a |
A |
T |
10: 122,285,256 (GRCm39) |
I183L |
probably benign |
Het |
Cep83 |
A |
G |
10: 94,625,626 (GRCm39) |
T679A |
possibly damaging |
Het |
Dennd1b |
A |
T |
1: 139,061,475 (GRCm39) |
I386F |
possibly damaging |
Het |
Dnaaf6rt |
G |
A |
1: 31,262,053 (GRCm39) |
V12I |
probably benign |
Het |
Ect2 |
T |
C |
3: 27,192,818 (GRCm39) |
N344S |
probably benign |
Het |
Ghrh |
G |
A |
2: 157,175,389 (GRCm39) |
H31Y |
probably benign |
Het |
Gpc6 |
A |
T |
14: 117,424,199 (GRCm39) |
T96S |
probably benign |
Het |
Man2b1 |
A |
C |
8: 85,820,567 (GRCm39) |
D618A |
probably damaging |
Het |
Myh2 |
A |
G |
11: 67,084,183 (GRCm39) |
E1602G |
probably damaging |
Het |
Myo16 |
T |
A |
8: 10,411,067 (GRCm39) |
I175N |
probably damaging |
Het |
Oga |
C |
A |
19: 45,753,979 (GRCm39) |
A632S |
possibly damaging |
Het |
Otof |
C |
T |
5: 30,543,097 (GRCm39) |
|
probably null |
Het |
Ralbp1 |
T |
A |
17: 66,171,607 (GRCm39) |
E122V |
possibly damaging |
Het |
Spata31e2 |
A |
T |
1: 26,723,940 (GRCm39) |
S413R |
possibly damaging |
Het |
Tcf12 |
T |
A |
9: 71,775,400 (GRCm39) |
N450I |
probably damaging |
Het |
Tle3 |
T |
A |
9: 61,319,652 (GRCm39) |
N492K |
probably damaging |
Het |
Ttll8 |
T |
C |
15: 88,798,356 (GRCm39) |
D793G |
probably benign |
Het |
Uggt2 |
T |
C |
14: 119,280,211 (GRCm39) |
T756A |
possibly damaging |
Het |
Zfand1 |
T |
C |
3: 10,411,084 (GRCm39) |
H96R |
probably damaging |
Het |
Zfp617 |
C |
T |
8: 72,686,386 (GRCm39) |
R239* |
probably null |
Het |
Zmpste24 |
A |
G |
4: 120,940,012 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Otop2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2012-12-06 |