Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01555:Otop1'

90690

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Otop1

Ensembl Gene

ENSMUSG00000051596

Gene Name

otopetrin 1

Synonyms

tlt, A530025J20Rik

Accession Numbers

Essential gene?

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

Stock #

IGL01555

Quality Score

Status

Chromosome

Chromosomal Location

38434748-38461560 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38460188 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 585 (Y585C)

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: Y581C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000061805
Gene: ENSMUSG00000051596
AA Change: Y581C

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: Y585C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109734
Gene: ENSMUSG00000051596
AA Change: Y585C

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

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,610,443 (GRCm39)	H372R	probably benign	Het
A3galt2	G	A	4: 128,655,851 (GRCm39)	C73Y	probably damaging	Het
Arid4a	C	T	12: 71,108,301 (GRCm39)		probably benign	Het
Ascc3	T	C	10: 50,626,618 (GRCm39)	V1706A	probably damaging	Het
Boll	A	G	1: 55,344,827 (GRCm39)		probably benign	Het
Camsap1	A	T	2: 25,829,405 (GRCm39)	M773K	possibly damaging	Het
Dhx9	A	T	1: 153,335,312 (GRCm39)	D929E	probably damaging	Het
Ect2l	A	G	10: 18,006,478 (GRCm39)	L775P	probably damaging	Het
Fat2	A	T	11: 55,169,756 (GRCm39)	V3001D	probably damaging	Het
Kcnh6	A	T	11: 105,908,445 (GRCm39)	I354F	probably damaging	Het
Nemp2	T	A	1: 52,680,202 (GRCm39)	V142E	probably damaging	Het
Nipal2	A	T	15: 34,600,264 (GRCm39)		probably benign	Het
Peli3	T	C	19: 4,985,086 (GRCm39)	T108A	probably damaging	Het
Pramel6	T	C	2: 87,341,129 (GRCm39)		probably benign	Het
Rbfa	G	A	18: 80,241,015 (GRCm39)	T83I	possibly damaging	Het
Speer1k	A	T	5: 10,999,051 (GRCm39)		probably benign	Het
Sstr2	A	T	11: 113,516,445 (GRCm39)	I342F	probably benign	Het
Tll2	T	A	19: 41,074,805 (GRCm39)	I920L	probably benign	Het

Other mutations in Otop1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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	38,457,796 (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

Posted On

2013-12-09