Incidental Mutation 'R5607:Otop1'
| ID |
439330 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Otop1
|
| Ensembl Gene |
ENSMUSG00000051596 |
| Gene Name |
otopetrin 1 |
| Synonyms |
tlt, A530025J20Rik |
| MMRRC Submission |
043271-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R5607 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
38434748-38461560 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 38451848 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 184
(G184S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109734
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063136]
[ENSMUST00000114099]
|
| AlphaFold |
Q80VM9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063136
AA Change: G181S
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000061805
Gene: ENSMUSG00000051596
AA Change: G181S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
|
transmembrane domain
|
60 |
82 |
N/A |
INTRINSIC |
|
transmembrane domain
|
87 |
106 |
N/A |
INTRINSIC |
|
Pfam:Otopetrin
|
127 |
239 |
1.6e-13 |
PFAM |
|
Pfam:Otopetrin
|
240 |
456 |
1.9e-16 |
PFAM |
|
low complexity region
|
462 |
471 |
N/A |
INTRINSIC |
|
Pfam:Otopetrin
|
518 |
583 |
3e-10 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114099
AA Change: G184S
PolyPhen 2
Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000109734
Gene: ENSMUSG00000051596
AA Change: G184S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
27 |
N/A |
INTRINSIC |
|
transmembrane domain
|
63 |
85 |
N/A |
INTRINSIC |
|
transmembrane domain
|
90 |
109 |
N/A |
INTRINSIC |
|
Pfam:Otopetrin
|
130 |
457 |
3.1e-40 |
PFAM |
|
low complexity region
|
466 |
475 |
N/A |
INTRINSIC |
|
Pfam:Otopetrin
|
513 |
587 |
2.9e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185357
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187863
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.8%
|
| Validation Efficiency |
96% (54/56) |
| MGI Phenotype |
PHENOTYPE: Homozygous mutant mice display vestibular abnormalities associated with absent otoconia. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(6) : Targeted(3) Spontaneous(1) Chemically induced(2)
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl1 |
G |
T |
8: 84,663,886 (GRCm39) |
G1118W |
probably damaging |
Het |
| Ajap1 |
T |
A |
4: 153,516,661 (GRCm39) |
T227S |
possibly damaging |
Het |
| Ankmy1 |
A |
G |
1: 92,804,740 (GRCm39) |
F851S |
probably damaging |
Het |
| Blvrb |
C |
T |
7: 27,158,894 (GRCm39) |
P98L |
probably benign |
Het |
| Bmpr1b |
C |
A |
3: 141,563,283 (GRCm39) |
M220I |
possibly damaging |
Het |
| Cacna1e |
T |
A |
1: 154,347,086 (GRCm39) |
N1027I |
probably benign |
Het |
| Cacng4 |
A |
T |
11: 107,625,610 (GRCm39) |
V327E |
probably damaging |
Het |
| Casp1 |
T |
C |
9: 5,303,143 (GRCm39) |
V199A |
probably damaging |
Het |
| Cdh13 |
A |
T |
8: 119,484,213 (GRCm39) |
D158V |
probably benign |
Het |
| Cenpe |
C |
A |
3: 134,940,837 (GRCm39) |
S662* |
probably null |
Het |
| Ctnna1 |
A |
G |
18: 35,382,795 (GRCm39) |
D647G |
probably benign |
Het |
| Dennd5a |
C |
A |
7: 109,518,630 (GRCm39) |
E480* |
probably null |
Het |
| Exoc6 |
T |
A |
19: 37,566,977 (GRCm39) |
V258D |
probably benign |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Fmn2 |
G |
A |
1: 174,437,377 (GRCm39) |
C1116Y |
probably damaging |
Het |
| H2-Aa |
T |
C |
17: 34,502,816 (GRCm39) |
T117A |
possibly damaging |
Het |
| Ktn1 |
TTGTTGTCTTTGTGTT |
TTGTT |
14: 47,971,554 (GRCm39) |
|
probably benign |
Het |
| Lig1 |
C |
A |
7: 13,039,933 (GRCm39) |
T715N |
probably damaging |
Het |
| Lrrc31 |
C |
A |
3: 30,743,994 (GRCm39) |
|
probably null |
Het |
| Mcm6 |
T |
C |
1: 128,283,326 (GRCm39) |
T60A |
probably damaging |
Het |
| Mex3c |
T |
A |
18: 73,723,014 (GRCm39) |
M369K |
possibly damaging |
Het |
| Mmp14 |
T |
C |
14: 54,676,869 (GRCm39) |
Y428H |
probably damaging |
Het |
| Msh6 |
A |
G |
17: 88,294,329 (GRCm39) |
D1028G |
probably damaging |
Het |
| Myo9a |
T |
C |
9: 59,771,227 (GRCm39) |
V933A |
probably damaging |
Het |
| Nepn |
A |
T |
10: 52,277,233 (GRCm39) |
D323V |
probably benign |
Het |
| Nrf1 |
C |
T |
6: 30,126,245 (GRCm39) |
A150V |
probably damaging |
Het |
| Nxpe5 |
A |
G |
5: 138,238,033 (GRCm39) |
T199A |
probably benign |
Het |
| Obscn |
T |
G |
11: 59,013,674 (GRCm39) |
K1150Q |
probably benign |
Het |
| Or12j5 |
A |
C |
7: 140,084,318 (GRCm39) |
V18G |
probably benign |
Het |
| Or52s1b |
T |
C |
7: 102,822,056 (GRCm39) |
T263A |
probably damaging |
Het |
| Or52z12 |
G |
A |
7: 103,233,506 (GRCm39) |
W92* |
probably null |
Het |
| Or7a38 |
A |
G |
10: 78,752,933 (GRCm39) |
I86M |
possibly damaging |
Het |
| Or7e170 |
T |
A |
9: 19,795,272 (GRCm39) |
M110L |
probably benign |
Het |
| Pkp2 |
G |
T |
16: 16,078,239 (GRCm39) |
D494Y |
probably damaging |
Het |
| Pop5 |
G |
A |
5: 115,378,260 (GRCm39) |
R68Q |
probably damaging |
Het |
| Ppp1r13b |
T |
C |
12: 111,800,223 (GRCm39) |
D518G |
probably benign |
Het |
| Preb |
G |
T |
5: 31,117,307 (GRCm39) |
|
probably benign |
Het |
| Qrfpr |
A |
G |
3: 36,235,114 (GRCm39) |
V292A |
possibly damaging |
Het |
| Rag1 |
G |
A |
2: 101,474,137 (GRCm39) |
T335I |
probably damaging |
Het |
| Rbbp6 |
T |
A |
7: 122,596,309 (GRCm39) |
V617E |
probably damaging |
Het |
| Sf3a3 |
A |
T |
4: 124,608,746 (GRCm39) |
D20V |
probably damaging |
Het |
| Slco1b2 |
A |
G |
6: 141,631,312 (GRCm39) |
N649D |
probably benign |
Het |
| Smarcal1 |
A |
G |
1: 72,625,372 (GRCm39) |
D173G |
probably benign |
Het |
| Smg7 |
A |
G |
1: 152,718,985 (GRCm39) |
L914P |
probably damaging |
Het |
| Tbc1d32 |
A |
T |
10: 56,005,246 (GRCm39) |
S796T |
possibly damaging |
Het |
| Tex14 |
A |
G |
11: 87,413,404 (GRCm39) |
T1052A |
probably benign |
Het |
| Tspan1 |
A |
G |
4: 116,021,277 (GRCm39) |
V109A |
possibly damaging |
Het |
| Ttbk2 |
A |
G |
2: 120,637,305 (GRCm39) |
V51A |
possibly damaging |
Het |
| Tubgcp6 |
A |
G |
15: 88,995,353 (GRCm39) |
V419A |
probably benign |
Het |
| Ubr2 |
G |
T |
17: 47,245,126 (GRCm39) |
C1633* |
probably null |
Het |
| Uggt2 |
C |
T |
14: 119,326,611 (GRCm39) |
G200D |
possibly damaging |
Het |
| Vmn2r25 |
T |
C |
6: 123,805,318 (GRCm39) |
E513G |
possibly damaging |
Het |
| Zscan22 |
G |
A |
7: 12,640,919 (GRCm39) |
G388S |
probably damaging |
Het |
|
| Other mutations in Otop1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01555:Otop1
|
APN |
5 |
38,460,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01793:Otop1
|
APN |
5 |
38,457,215 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02071:Otop1
|
APN |
5 |
38,445,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02111:Otop1
|
APN |
5 |
38,435,045 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02660:Otop1
|
APN |
5 |
38,445,349 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02672:Otop1
|
APN |
5 |
38,435,170 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03164:Otop1
|
APN |
5 |
38,445,306 (GRCm39) |
nonsense |
probably null |
|
|
BB008:Otop1
|
UTSW |
5 |
38,445,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB018:Otop1
|
UTSW |
5 |
38,445,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0015:Otop1
|
UTSW |
5 |
38,451,903 (GRCm39) |
splice site |
probably benign |
|
|
R0092:Otop1
|
UTSW |
5 |
38,457,174 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0639:Otop1
|
UTSW |
5 |
38,445,292 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0670:Otop1
|
UTSW |
5 |
38,445,292 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0673:Otop1
|
UTSW |
5 |
38,445,292 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2092:Otop1
|
UTSW |
5 |
38,457,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2105:Otop1
|
UTSW |
5 |
38,457,801 (GRCm39) |
missense |
probably benign |
|
|
R2152:Otop1
|
UTSW |
5 |
38,460,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3971:Otop1
|
UTSW |
5 |
38,457,533 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3972:Otop1
|
UTSW |
5 |
38,457,533 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4575:Otop1
|
UTSW |
5 |
38,457,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4660:Otop1
|
UTSW |
5 |
38,457,368 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4998:Otop1
|
UTSW |
5 |
38,451,892 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5412:Otop1
|
UTSW |
5 |
38,455,328 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5461:Otop1
|
UTSW |
5 |
38,457,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5625:Otop1
|
UTSW |
5 |
38,460,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5677:Otop1
|
UTSW |
5 |
38,457,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5792:Otop1
|
UTSW |
5 |
38,455,260 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5878:Otop1
|
UTSW |
5 |
38,435,166 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6163:Otop1
|
UTSW |
5 |
38,445,234 (GRCm39) |
splice site |
probably null |
|
|
R7338:Otop1
|
UTSW |
5 |
38,457,547 (GRCm39) |
nonsense |
probably null |
|
|
R7931:Otop1
|
UTSW |
5 |
38,445,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7994:Otop1
|
UTSW |
5 |
38,457,195 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8224:Otop1
|
UTSW |
5 |
38,457,846 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8733:Otop1
|
UTSW |
5 |
38,457,796 (GRCm39) |
nonsense |
probably null |
|
|
R8733:Otop1
|
UTSW |
5 |
38,457,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8987:Otop1
|
UTSW |
5 |
38,457,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9192:Otop1
|
UTSW |
5 |
38,445,274 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9278:Otop1
|
UTSW |
5 |
38,460,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9290:Otop1
|
UTSW |
5 |
38,455,302 (GRCm39) |
missense |
probably benign |
0.06 |
|
X0064:Otop1
|
UTSW |
5 |
38,457,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Otop1
|
UTSW |
5 |
38,435,114 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCTAACCACAGCAGATGTTC -3'
(R):5'- AAGTACTGGAAGGGCTTTGC -3'
Sequencing Primer
(F):5'- GCAGATGTTCTTTATTAATTGCAGC -3'
(R):5'- CTTTGGGGACAGAGCAGAAATC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation