Mutagenetix > Incidental Mutation

Incidental Mutation 'R0092:Otop1'

20270

Institutional Source

Beutler Lab

Gene Symbol

Otop1

Ensembl Gene

ENSMUSG00000051596

Gene Name

otopetrin 1

Synonyms

tlt, A530025J20Rik

MMRRC Submission

038379-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R0092 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38434748-38461560 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38457174 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 311 (V311E)

Ref Sequence

ENSEMBL: ENSMUSP00000109734 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063136] [ENSMUST00000114099]

AlphaFold

Q80VM9

Predicted Effect

probably damaging
Transcript: ENSMUST00000063136
AA Change: V308E

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000061805
Gene: ENSMUSG00000051596
AA Change: V308E

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 damaging
Transcript: ENSMUST00000114099
AA Change: V311E

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000109734
Gene: ENSMUSG00000051596
AA Change: V311E

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

0.4333

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.1%
20x: 88.6%

Validation Efficiency

99% (112/113)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg2	T	A	6: 58,662,762 (GRCm39)	S535T	probably benign	Het
Acad11	A	T	9: 103,967,540 (GRCm39)		probably benign	Het
Acadm	A	T	3: 153,647,512 (GRCm39)		probably benign	Het
Acot12	T	A	13: 91,889,684 (GRCm39)	M12K	probably damaging	Het
Actr2	A	T	11: 20,044,308 (GRCm39)	N99K	probably benign	Het
Adam2	G	A	14: 66,291,336 (GRCm39)	A314V	probably damaging	Het
Agl	C	T	3: 116,587,453 (GRCm39)	R34Q	probably damaging	Het
Agrn	C	T	4: 156,263,410 (GRCm39)	R338H	probably damaging	Het
AI661453	A	G	17: 47,778,440 (GRCm39)		probably benign	Het
Alpk3	A	G	7: 80,742,301 (GRCm39)	D706G	probably benign	Het
Apbb1	T	C	7: 105,208,361 (GRCm39)	E648G	probably damaging	Het
Astn2	C	A	4: 66,322,219 (GRCm39)	A127S	unknown	Het
Asxl2	T	C	12: 3,546,313 (GRCm39)	S366P	probably benign	Het
Bdh1	A	T	16: 31,266,380 (GRCm39)	K92*	probably null	Het
Bltp1	A	G	3: 37,082,308 (GRCm39)	D3790G	probably benign	Het
Cacna1g	C	T	11: 94,348,090 (GRCm39)	S666N	probably damaging	Het
Ces2b	A	G	8: 105,563,144 (GRCm39)	T361A	possibly damaging	Het
Col6a4	T	A	9: 105,890,513 (GRCm39)	E1927V	probably benign	Het
Ctnnb1	T	G	9: 120,781,929 (GRCm39)	I314S	possibly damaging	Het
Cyp2c66	T	C	19: 39,172,224 (GRCm39)		probably benign	Het
Dennd4c	T	A	4: 86,699,844 (GRCm39)	F232I	probably damaging	Het
Dennd5a	T	C	7: 109,499,013 (GRCm39)	N950S	possibly damaging	Het
Dhx30	T	C	9: 109,914,078 (GRCm39)	N14S	possibly damaging	Het
Dip2b	T	A	15: 100,100,146 (GRCm39)	V1004D	probably damaging	Het
Dnah1	A	C	14: 30,993,566 (GRCm39)	S2872A	probably benign	Het
Dnajc10	T	C	2: 80,156,026 (GRCm39)	V233A	probably damaging	Het
E230025N22Rik	A	G	18: 36,822,277 (GRCm39)	L162P	probably damaging	Het
Elmod3	T	C	6: 72,543,792 (GRCm39)	D333G	probably benign	Het
Epb41l3	T	A	17: 69,593,745 (GRCm39)	M846K	probably damaging	Het
Frem2	A	G	3: 53,497,217 (GRCm39)	Y1766H	probably benign	Het
Fxr2	T	C	11: 69,532,972 (GRCm39)		probably benign	Het
Gmpr2	A	G	14: 55,915,402 (GRCm39)	R258G	probably benign	Het
Helb	T	C	10: 119,925,713 (GRCm39)	Y888C	probably damaging	Het
Hephl1	TTCCAGATGTCC	TTCC	9: 15,001,899 (GRCm39)		probably null	Het
Hipk2	T	C	6: 38,720,164 (GRCm39)	D482G	probably damaging	Het
Itgb4	G	T	11: 115,869,950 (GRCm39)	R44L	probably damaging	Het
Itih1	T	C	14: 30,662,820 (GRCm39)		probably benign	Het
Kit	T	A	5: 75,808,414 (GRCm39)	S719R	possibly damaging	Het
Krt13	G	A	11: 100,012,258 (GRCm39)	Q22*	probably null	Het
L3mbtl4	A	C	17: 68,732,698 (GRCm39)	R59S	probably benign	Het
Lpp	A	G	16: 24,580,352 (GRCm39)	S23G	probably benign	Het
Magi3	G	A	3: 103,958,280 (GRCm39)	Q602*	probably null	Het
Man2a1	A	G	17: 64,966,079 (GRCm39)		probably benign	Het
Muc5ac	A	G	7: 141,372,367 (GRCm39)	E2667G	possibly damaging	Het
Myef2l	G	A	3: 10,153,633 (GRCm39)	C134Y	possibly damaging	Het
Myo15b	C	G	11: 115,753,812 (GRCm39)	S842C	possibly damaging	Het
Naf1	T	A	8: 67,341,760 (GRCm39)	S462T	probably benign	Het
Necab3	T	C	2: 154,400,659 (GRCm39)	D34G	possibly damaging	Het
Nisch	C	A	14: 30,913,410 (GRCm39)		probably benign	Het
Nlrc5	T	C	8: 95,216,222 (GRCm39)		probably benign	Het
Nmt1	T	C	11: 102,937,319 (GRCm39)	F119L	probably damaging	Het
Nod1	T	G	6: 54,921,526 (GRCm39)	D264A	probably damaging	Het
Nol8	C	T	13: 49,815,923 (GRCm39)	A677V	possibly damaging	Het
Nt5e	T	A	9: 88,252,338 (GRCm39)	F567I	probably benign	Het
Obscn	A	T	11: 58,942,073 (GRCm39)	M4434K	possibly damaging	Het
Opa1	A	T	16: 29,444,412 (GRCm39)	D866V	probably damaging	Het
Or10a3m	T	C	7: 108,313,031 (GRCm39)	V145A	probably benign	Het
Or10al3	T	G	17: 38,011,696 (GRCm39)	L45R	probably damaging	Het
Or10p1	A	G	10: 129,444,090 (GRCm39)	S87P	probably damaging	Het
Or1j21	A	G	2: 36,683,508 (GRCm39)	T87A	probably benign	Het
Or51ai2	T	C	7: 103,586,934 (GRCm39)	S116P	probably damaging	Het
Pcsk2	A	G	2: 143,642,944 (GRCm39)	D407G	probably damaging	Het
Pdcd1	A	G	1: 93,980,149 (GRCm39)	W23R	possibly damaging	Het
Pigp	A	G	16: 94,166,321 (GRCm39)	V129A	probably damaging	Het
Pik3r5	A	G	11: 68,383,629 (GRCm39)	R483G	probably benign	Het
Pink1	A	G	4: 138,047,309 (GRCm39)	V225A	probably benign	Het
Plcl1	C	G	1: 55,735,924 (GRCm39)	Q422E	probably damaging	Het
Plec	T	C	15: 76,067,943 (GRCm39)	E1222G	probably benign	Het
Polr1a	T	C	6: 71,944,439 (GRCm39)		probably benign	Het
Prokr2	C	T	2: 132,215,517 (GRCm39)	V154M	probably damaging	Het
Rasgrp4	A	G	7: 28,844,557 (GRCm39)	R280G	possibly damaging	Het
Rmnd5b	T	C	11: 51,520,419 (GRCm39)	E8G	possibly damaging	Het
Sbf2	T	A	7: 109,920,013 (GRCm39)		probably benign	Het
Sec23b	A	G	2: 144,408,830 (GRCm39)	M172V	probably benign	Het
Setx	T	C	2: 29,036,305 (GRCm39)	V930A	probably benign	Het
Sft2d2	G	A	1: 165,006,829 (GRCm39)	A159V	possibly damaging	Het
Sh3gl1	G	T	17: 56,325,088 (GRCm39)	R250S	probably benign	Het
Skor1	C	A	9: 63,053,277 (GRCm39)	D231Y	probably damaging	Het
Slc24a1	T	G	9: 64,856,034 (GRCm39)	E291A	unknown	Het
Slc28a2b	G	T	2: 122,348,078 (GRCm39)		probably benign	Het
Smc1b	A	T	15: 84,951,925 (GRCm39)		probably benign	Het
Tbccd1	A	T	16: 22,644,844 (GRCm39)	N177K	possibly damaging	Het
Tdp1	T	A	12: 99,921,248 (GRCm39)	Y595N	probably damaging	Het
Tle5	G	A	10: 81,397,054 (GRCm39)	G10D	possibly damaging	Het
Tmem108	T	C	9: 103,366,504 (GRCm39)	K496E	possibly damaging	Het
Tmprss7	T	C	16: 45,487,959 (GRCm39)	D490G	probably damaging	Het
Tnrc6b	A	T	15: 80,802,729 (GRCm39)	N1511Y	probably damaging	Het
Top2b	G	A	14: 16,409,263 (GRCm38)	R802Q	probably damaging	Het
Trip10	A	T	17: 57,557,798 (GRCm39)	K27N	possibly damaging	Het
Txlnb	A	G	10: 17,718,503 (GRCm39)	N445D	possibly damaging	Het
Txnrd1	T	A	10: 82,715,636 (GRCm39)	I159N	probably damaging	Het
Ulk1	C	A	5: 110,944,193 (GRCm39)	A164S	probably null	Het
Vmn2r83	T	C	10: 79,327,798 (GRCm39)	V802A	probably damaging	Het
Zbtb4	A	G	11: 69,670,177 (GRCm39)	I967V	probably benign	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
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	38,457,796 (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'- CCCACTGCCCTAGTTTTGGATGAC -3'
(R):5'- CTGTAAATCCAGCTTCCGACTAGCC -3'

Sequencing Primer
(F):5'- CTAGTTTTGGATGACCACACAC -3'
(R):5'- TTCCGACTAGCCCTGCG -3'

Posted On

2013-04-11