Incidental Mutation 'R8733:Otop1'
ID |
662855 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Otop1
|
Ensembl Gene |
ENSMUSG00000051596 |
Gene Name |
otopetrin 1 |
Synonyms |
tlt, A530025J20Rik |
MMRRC Submission |
068581-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R8733 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
38434748-38461560 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 38457796 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 518
(C518*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109734
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063136]
[ENSMUST00000114099]
|
AlphaFold |
Q80VM9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000063136
AA Change: C514*
|
SMART Domains |
Protein: ENSMUSP00000061805 Gene: ENSMUSG00000051596 AA Change: C514*
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 |
probably null
Transcript: ENSMUST00000114099
AA Change: C518*
|
SMART Domains |
Protein: ENSMUSP00000109734 Gene: ENSMUSG00000051596 AA Change: C518*
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
100% (52/52) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc3 |
A |
G |
11: 94,249,627 (GRCm39) |
L1106P |
probably damaging |
Het |
Alx3 |
C |
G |
3: 107,512,135 (GRCm39) |
P258A |
probably damaging |
Het |
Bbs9 |
A |
G |
9: 22,582,128 (GRCm39) |
T607A |
probably benign |
Het |
Catsperg1 |
A |
T |
7: 28,891,111 (GRCm39) |
V644E |
possibly damaging |
Het |
Cep85 |
T |
C |
4: 133,875,472 (GRCm39) |
K499E |
possibly damaging |
Het |
Chd5 |
A |
T |
4: 152,463,923 (GRCm39) |
H1464L |
probably damaging |
Het |
Chrne |
A |
G |
11: 70,507,856 (GRCm39) |
L281P |
probably damaging |
Het |
Col3a1 |
A |
G |
1: 45,379,472 (GRCm39) |
|
probably benign |
Het |
Cpsf4l |
A |
G |
11: 113,600,279 (GRCm39) |
F13L |
possibly damaging |
Het |
Dgcr8 |
T |
C |
16: 18,077,825 (GRCm39) |
I603V |
probably benign |
Het |
Dhx16 |
A |
G |
17: 36,192,267 (GRCm39) |
D102G |
probably benign |
Het |
Dnm1 |
G |
T |
2: 32,206,987 (GRCm39) |
D564E |
probably benign |
Het |
Dync1li1 |
T |
A |
9: 114,534,178 (GRCm39) |
Y93N |
probably damaging |
Het |
Esp31 |
A |
G |
17: 38,955,509 (GRCm39) |
I51V |
probably benign |
Het |
Grap |
G |
T |
11: 61,562,517 (GRCm39) |
A163S |
possibly damaging |
Het |
Hgs |
G |
A |
11: 120,360,954 (GRCm39) |
|
probably null |
Het |
Icosl |
A |
T |
10: 77,909,697 (GRCm39) |
N214I |
probably damaging |
Het |
Ints6 |
G |
A |
14: 62,934,297 (GRCm39) |
P737S |
probably benign |
Het |
Irag1 |
C |
T |
7: 110,477,425 (GRCm39) |
V564M |
probably benign |
Het |
Lima1 |
A |
G |
15: 99,678,699 (GRCm39) |
S581P |
probably damaging |
Het |
Lrfn2 |
G |
A |
17: 49,403,824 (GRCm39) |
R649H |
probably damaging |
Het |
Muc5b |
A |
G |
7: 141,417,532 (GRCm39) |
T3493A |
possibly damaging |
Het |
Mup4 |
A |
T |
4: 59,958,587 (GRCm39) |
N104K |
probably damaging |
Het |
Nedd4 |
T |
C |
9: 72,633,766 (GRCm39) |
V424A |
possibly damaging |
Het |
Or10ag55-ps1 |
A |
T |
2: 87,115,116 (GRCm39) |
I161F |
probably benign |
Het |
Or6c88 |
T |
A |
10: 129,406,579 (GRCm39) |
D18E |
possibly damaging |
Het |
Or8d23 |
A |
G |
9: 38,841,985 (GRCm39) |
I173V |
probably benign |
Het |
Parp3 |
C |
T |
9: 106,353,150 (GRCm39) |
V9M |
probably benign |
Het |
Pcdhb20 |
C |
T |
18: 37,638,437 (GRCm39) |
A321V |
probably damaging |
Het |
Pik3c2g |
C |
T |
6: 139,714,426 (GRCm39) |
Q311* |
probably null |
Het |
Pkd1l1 |
A |
T |
11: 8,883,657 (GRCm39) |
V855D |
|
Het |
Polr2k |
T |
A |
15: 36,176,913 (GRCm39) |
D97E |
probably benign |
Het |
Psmd11 |
A |
G |
11: 80,325,342 (GRCm39) |
|
probably benign |
Het |
Ralgapa2 |
G |
A |
2: 146,266,683 (GRCm39) |
T631M |
probably damaging |
Het |
Ralgps1 |
C |
A |
2: 33,174,836 (GRCm39) |
|
probably null |
Het |
Rbm18 |
A |
G |
2: 36,024,211 (GRCm39) |
S17P |
probably damaging |
Het |
Rcc1 |
C |
A |
4: 132,065,515 (GRCm39) |
L49F |
probably benign |
Het |
Rgma |
T |
C |
7: 73,059,036 (GRCm39) |
S63P |
possibly damaging |
Het |
Scn1a |
T |
A |
2: 66,154,944 (GRCm39) |
I672L |
probably benign |
Het |
Sema4c |
T |
C |
1: 36,591,954 (GRCm39) |
T270A |
probably damaging |
Het |
Serac1 |
A |
G |
17: 6,100,303 (GRCm39) |
L479P |
probably damaging |
Het |
Slc22a16 |
A |
G |
10: 40,450,061 (GRCm39) |
M187V |
probably benign |
Het |
Slc41a3 |
A |
T |
6: 90,610,710 (GRCm39) |
T191S |
possibly damaging |
Het |
Slu7 |
G |
A |
11: 43,334,167 (GRCm39) |
V398M |
probably damaging |
Het |
Sphk1 |
A |
G |
11: 116,426,451 (GRCm39) |
T136A |
probably benign |
Het |
Sqstm1 |
G |
T |
11: 50,101,493 (GRCm39) |
P31Q |
possibly damaging |
Het |
Trappc11 |
A |
T |
8: 47,954,883 (GRCm39) |
V885D |
probably damaging |
Het |
Trav6-1 |
T |
A |
14: 52,876,213 (GRCm39) |
Y44* |
probably null |
Het |
Trav9-2 |
T |
A |
14: 53,828,755 (GRCm39) |
C42S |
probably damaging |
Het |
Zc2hc1a |
A |
G |
3: 7,593,168 (GRCm39) |
T194A |
probably benign |
Het |
Zfp729a |
A |
G |
13: 67,769,104 (GRCm39) |
V375A |
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 |
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 |
38,457,117 (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'- TCATCATCGAGTCCGTGCAC -3'
(R):5'- TTTAAAATACTGAGGACTGGGGC -3'
Sequencing Primer
(F):5'- ACTCTGCGTGTGGTCACC -3'
(R):5'- TTCAATGAGAGATGCTGGCTCAC -3'
|
Posted On |
2021-03-08 |