Incidental Mutation 'R2350:Otop2'
| ID |
246078 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Otop2
|
| Ensembl Gene |
ENSMUSG00000050201 |
| Gene Name |
otopetrin 2 |
| Synonyms |
|
| MMRRC Submission |
040332-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2350 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
115197989-115223129 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 115217676 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Glycine
at position 171
(C171G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102154
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055490]
[ENSMUST00000103037]
[ENSMUST00000106544]
|
| AlphaFold |
Q80SX5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055490
AA Change: C171G
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000062109
Gene: ENSMUSG00000050201
AA Change: C171G
| 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 damaging
Transcript: ENSMUST00000106544
AA Change: C171G
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102154
Gene: ENSMUSG00000050201
AA Change: C171G
| 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
|
| Meta Mutation Damage Score |
0.2990 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
C |
6: 121,655,047 (GRCm39) |
|
probably benign |
Het |
| Adam12 |
T |
C |
7: 133,521,253 (GRCm39) |
T312A |
probably damaging |
Het |
| Adamts20 |
C |
T |
15: 94,181,797 (GRCm39) |
C1632Y |
probably damaging |
Het |
| Ago2 |
T |
C |
15: 72,991,310 (GRCm39) |
M543V |
probably benign |
Het |
| Alpk3 |
T |
C |
7: 80,744,718 (GRCm39) |
L1271P |
probably damaging |
Het |
| Arpin |
T |
A |
7: 79,581,553 (GRCm39) |
K56* |
probably null |
Het |
| Ccdc138 |
G |
T |
10: 58,397,715 (GRCm39) |
|
probably benign |
Het |
| Ccdc63 |
A |
T |
5: 122,260,948 (GRCm39) |
M192K |
probably benign |
Het |
| Cldn12 |
A |
T |
5: 5,557,845 (GRCm39) |
V194D |
possibly damaging |
Het |
| Cntnap5b |
T |
C |
1: 100,306,851 (GRCm39) |
L485P |
probably damaging |
Het |
| Cpne7 |
A |
G |
8: 123,851,208 (GRCm39) |
D165G |
probably damaging |
Het |
| Cyp2j6 |
A |
T |
4: 96,417,645 (GRCm39) |
M326K |
probably damaging |
Het |
| D630003M21Rik |
T |
A |
2: 158,042,931 (GRCm39) |
T870S |
probably damaging |
Het |
| Dennd2c |
A |
G |
3: 103,039,317 (GRCm39) |
D155G |
probably benign |
Het |
| Dnah3 |
A |
T |
7: 119,645,011 (GRCm39) |
|
probably null |
Het |
| Dqx1 |
T |
A |
6: 83,036,068 (GRCm39) |
C133* |
probably null |
Het |
| Fam234b |
T |
A |
6: 135,208,722 (GRCm39) |
V545E |
probably damaging |
Het |
| Flcn |
T |
C |
11: 59,683,485 (GRCm39) |
H564R |
probably damaging |
Het |
| Gsdmc4 |
T |
A |
15: 63,765,014 (GRCm39) |
H348L |
probably benign |
Het |
| Gucy2c |
G |
T |
6: 136,740,072 (GRCm39) |
P252T |
probably damaging |
Het |
| Insl6 |
T |
A |
19: 29,302,645 (GRCm39) |
E24V |
possibly damaging |
Het |
| Irx1 |
T |
A |
13: 72,108,167 (GRCm39) |
T172S |
probably damaging |
Het |
| Mocos |
C |
T |
18: 24,799,713 (GRCm39) |
|
probably benign |
Het |
| Myom2 |
T |
C |
8: 15,158,835 (GRCm39) |
V837A |
probably benign |
Het |
| Nfatc2ip |
T |
C |
7: 125,995,170 (GRCm39) |
N126S |
probably benign |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Npepl1 |
T |
C |
2: 173,953,566 (GRCm39) |
S166P |
probably benign |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Or7d11 |
G |
T |
9: 19,966,384 (GRCm39) |
A125D |
probably damaging |
Het |
| Parpbp |
C |
A |
10: 87,968,950 (GRCm39) |
|
probably benign |
Het |
| Pcdhb20 |
T |
A |
18: 37,637,563 (GRCm39) |
S30T |
probably benign |
Het |
| Phkg1 |
A |
T |
5: 129,893,373 (GRCm39) |
V359E |
probably damaging |
Het |
| Ppp2cb |
A |
G |
8: 34,101,855 (GRCm39) |
D131G |
probably null |
Het |
| Scn9a |
A |
G |
2: 66,335,312 (GRCm39) |
Y1226H |
probably damaging |
Het |
| Unc5b |
A |
G |
10: 60,613,979 (GRCm39) |
F290S |
probably benign |
Het |
| Vmn1r71 |
A |
G |
7: 10,481,846 (GRCm39) |
F215L |
probably benign |
Het |
| Vmn2r101 |
T |
C |
17: 19,810,045 (GRCm39) |
V277A |
probably benign |
Het |
| Vmn2r6 |
T |
C |
3: 64,463,773 (GRCm39) |
S354G |
probably benign |
Het |
| Zfp292 |
A |
T |
4: 34,811,281 (GRCm39) |
S588T |
probably damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGGGCTGAGTCTTGCTTC -3'
(R):5'- CTGGCAAGGATATGGTTGACTG -3'
Sequencing Primer
(F):5'- GAGTCTTGCTTCCAAGTTCAACG -3'
(R):5'- GCAAGGATATGGTTGACTGACTATG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation