Incidental Mutation 'R0670:Otop1'
| ID |
61391 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Otop1
|
| Ensembl Gene |
ENSMUSG00000051596 |
| Gene Name |
otopetrin 1 |
| Synonyms |
tlt, A530025J20Rik |
| MMRRC Submission |
038855-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R0670 (G1)
|
| Quality Score |
134 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
38434748-38461560 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38445292 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 150
(V150A)
|
| 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: V147A
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000061805
Gene: ENSMUSG00000051596
AA Change: V147A
| 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: V150A
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000109734
Gene: ENSMUSG00000051596
AA Change: V150A
| 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
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.7%
|
| Validation Efficiency |
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| a |
A |
T |
2: 154,887,678 (GRCm39) |
D46V |
probably damaging |
Het |
| Abraxas2 |
A |
T |
7: 132,470,760 (GRCm39) |
|
probably null |
Het |
| Afap1l2 |
G |
A |
19: 56,904,235 (GRCm39) |
T684I |
probably damaging |
Het |
| Ahcyl1 |
A |
T |
3: 107,578,481 (GRCm39) |
V205E |
probably damaging |
Het |
| Ap4e1 |
T |
A |
2: 126,853,784 (GRCm39) |
|
probably null |
Het |
| Brms1 |
C |
A |
19: 5,095,999 (GRCm39) |
N24K |
probably damaging |
Het |
| Celf3 |
ACAGCAGCAGCAGCAGCAGCAGCA |
ACAGCAGCAGCAGCAGCAGCA |
3: 94,395,537 (GRCm39) |
|
probably benign |
Het |
| Col25a1 |
A |
G |
3: 130,180,544 (GRCm39) |
K130E |
possibly damaging |
Het |
| Crisp1 |
A |
C |
17: 40,616,001 (GRCm39) |
Y125* |
probably null |
Het |
| Dnhd1 |
A |
T |
7: 105,345,671 (GRCm39) |
D2272V |
possibly damaging |
Het |
| Elmod1 |
A |
G |
9: 53,820,106 (GRCm39) |
V294A |
probably damaging |
Het |
| Gmfg |
T |
A |
7: 28,140,953 (GRCm39) |
I33K |
probably damaging |
Het |
| Gsk3b |
G |
T |
16: 37,964,678 (GRCm39) |
D49Y |
probably damaging |
Het |
| H2-T5 |
G |
C |
17: 36,478,990 (GRCm39) |
F86L |
possibly damaging |
Het |
| Harbi1 |
C |
T |
2: 91,542,880 (GRCm39) |
R114W |
probably damaging |
Het |
| Hspbp1 |
A |
G |
7: 4,680,735 (GRCm39) |
V247A |
probably damaging |
Het |
| Kif17 |
A |
T |
4: 137,989,810 (GRCm39) |
|
probably benign |
Het |
| Klhl6 |
T |
A |
16: 19,768,309 (GRCm39) |
H412L |
possibly damaging |
Het |
| Muc1 |
A |
G |
3: 89,137,839 (GRCm39) |
D227G |
probably benign |
Het |
| Nat8f5 |
A |
T |
6: 85,794,957 (GRCm39) |
M1K |
probably null |
Het |
| Neb |
A |
G |
2: 52,146,136 (GRCm39) |
V2947A |
possibly damaging |
Het |
| Nfrkb |
A |
T |
9: 31,331,469 (GRCm39) |
Q1295L |
probably benign |
Het |
| Pcdhb2 |
A |
T |
18: 37,429,701 (GRCm39) |
D558V |
probably damaging |
Het |
| Pdilt |
T |
C |
7: 119,099,651 (GRCm39) |
K206E |
probably benign |
Het |
| Pkn2 |
A |
T |
3: 142,545,104 (GRCm39) |
I23K |
probably damaging |
Het |
| Plec |
A |
T |
15: 76,090,160 (GRCm39) |
L60Q |
probably damaging |
Het |
| Ranbp2 |
C |
A |
10: 58,316,520 (GRCm39) |
D2413E |
probably benign |
Het |
| Socs1 |
A |
G |
16: 10,602,126 (GRCm39) |
Y204H |
probably damaging |
Het |
| Stk39 |
T |
C |
2: 68,196,526 (GRCm39) |
D301G |
possibly damaging |
Het |
| Tlr5 |
T |
A |
1: 182,801,454 (GRCm39) |
W253R |
probably damaging |
Het |
| Treml2 |
A |
G |
17: 48,614,864 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
G |
2: 76,579,448 (GRCm39) |
L22069P |
probably damaging |
Het |
| Vps13c |
G |
T |
9: 67,833,139 (GRCm39) |
S1614I |
probably benign |
Het |
| Vrk2 |
C |
T |
11: 26,436,959 (GRCm39) |
|
probably null |
Het |
| Xrn1 |
A |
G |
9: 95,873,109 (GRCm39) |
Y655C |
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 |
|
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 |
|
R5607:Otop1
|
UTSW |
5 |
38,451,848 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
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'- GCGTTGCATTTCTCACTGTTTGGTCT -3'
(R):5'- CAGCTCATTATTCCTGACAAGAGCCAC -3'
Sequencing Primer
(F):5'- AACACACATGTGTCTCTCCC -3'
(R):5'- GATGCGAGCTAAATCTGACTCC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation