Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02111:Otop1'

280135

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 #

IGL02111

Quality Score

Status

Chromosome

Chromosomal Location

38434748-38461560 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38435045 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 89 (C89S)

Ref Sequence

ENSEMBL: ENSMUSP00000061805 (fasta)

Gene Model

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

AlphaFold

Q80VM9

Predicted Effect

probably benign
Transcript: ENSMUST00000063136
AA Change: C89S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000061805
Gene: ENSMUSG00000051596
AA Change: C89S

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 benign
Transcript: ENSMUST00000114099
AA Change: C92S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000109734
Gene: ENSMUSG00000051596
AA Change: C92S

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

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg3	G	A	8: 95,761,627 (GRCm39)	R130Q	probably damaging	Het
Adipor2	A	T	6: 119,347,157 (GRCm39)	L42*	probably null	Het
Ankrd45	A	G	1: 160,990,921 (GRCm39)	K259E	probably damaging	Het
Apoc3	T	C	9: 46,145,772 (GRCm39)	K79R	possibly damaging	Het
Arhgap40	T	C	2: 158,381,764 (GRCm39)	Y416H	probably damaging	Het
Armc5	A	G	7: 127,843,255 (GRCm39)	T683A	probably benign	Het
Bora	T	C	14: 99,284,813 (GRCm39)	V21A	probably damaging	Het
Cacna1b	C	T	2: 24,497,003 (GRCm39)	S2189N	probably damaging	Het
Cct2	G	A	10: 116,889,017 (GRCm39)	T57I	probably damaging	Het
Cd200r1	A	T	16: 44,609,144 (GRCm39)	N34Y	probably damaging	Het
Cd300ld2	T	A	11: 114,903,219 (GRCm39)		probably benign	Het
Cntnap5a	G	A	1: 116,017,082 (GRCm39)	R225H	probably benign	Het
Cntnap5c	A	T	17: 58,409,103 (GRCm39)	D447V	probably damaging	Het
Cpne7	T	C	8: 123,852,392 (GRCm39)		probably benign	Het
Dap3	G	A	3: 88,836,725 (GRCm39)	T92I	probably benign	Het
Dnmbp	A	G	19: 43,855,994 (GRCm39)	L254P	probably damaging	Het
Egfem1	G	A	3: 29,705,045 (GRCm39)		probably null	Het
Fam120b	T	C	17: 15,622,847 (GRCm39)	L275P	possibly damaging	Het
Fam161a	A	T	11: 22,970,026 (GRCm39)	H68L	probably benign	Het
Fam193a	A	G	5: 34,568,001 (GRCm39)	E100G	possibly damaging	Het
Ftmt	A	T	18: 52,465,125 (GRCm39)	D147V	possibly damaging	Het
Gm10136	T	C	19: 28,981,122 (GRCm39)	K41E	probably benign	Het
Gm10797	C	T	10: 67,408,397 (GRCm39)		noncoding transcript	Het
Hsf1	A	G	15: 76,380,281 (GRCm39)		probably benign	Het
Ipo8	A	G	6: 148,701,278 (GRCm39)	V514A	probably damaging	Het
Itfg2	T	C	6: 128,387,344 (GRCm39)	H422R	probably benign	Het
Lrp4	G	T	2: 91,336,404 (GRCm39)	L1738F	probably damaging	Het
Matcap2	T	C	9: 22,335,475 (GRCm39)	I31T	probably benign	Het
Mettl17	A	G	14: 52,128,843 (GRCm39)	E371G	probably damaging	Het
Mfsd6	A	T	1: 52,747,503 (GRCm39)	L454Q	probably damaging	Het
Myh10	A	T	11: 68,680,938 (GRCm39)	E956V	probably damaging	Het
Ncoa1	A	T	12: 4,324,944 (GRCm39)	M1K	probably null	Het
Or2d3c	A	C	7: 106,525,823 (GRCm39)	V281G	probably damaging	Het
Or52e4	A	G	7: 104,706,152 (GRCm39)	D233G	probably benign	Het
Or5d36	T	A	2: 87,901,571 (GRCm39)	N52Y	probably benign	Het
Pitrm1	G	T	13: 6,623,181 (GRCm39)	R775L	probably benign	Het
Prpf19	A	G	19: 10,882,458 (GRCm39)	T512A	probably benign	Het
Prpf4b	T	A	13: 35,067,944 (GRCm39)	S258T	probably benign	Het
Rhbdl2	T	C	4: 123,716,630 (GRCm39)	Y196H	probably damaging	Het
Rnf187	T	C	11: 58,828,006 (GRCm39)	D148G	probably damaging	Het
Sbds	A	G	5: 130,279,782 (GRCm39)	I74T	probably damaging	Het
Sec63	T	C	10: 42,686,884 (GRCm39)	V468A	probably damaging	Het
Slc35b3	A	T	13: 39,139,758 (GRCm39)	M23K	probably damaging	Het
Slc6a9	A	T	4: 117,721,210 (GRCm39)	Y208F	probably benign	Het
Slfn8	A	T	11: 82,895,324 (GRCm39)	L494Q	probably damaging	Het
Sorcs1	T	G	19: 50,218,683 (GRCm39)	M600L	probably benign	Het
Supt7l	T	C	5: 31,673,022 (GRCm39)		probably null	Het
Tecrl	T	A	5: 83,502,639 (GRCm39)	Q70L	probably damaging	Het
Tedc2	A	T	17: 24,437,140 (GRCm39)		probably benign	Het
Tespa1	A	G	10: 130,191,353 (GRCm39)	D99G	probably damaging	Het
Tmem126b	G	T	7: 90,118,269 (GRCm39)	Q204K	probably damaging	Het
Tmem181c-ps	A	T	17: 6,887,766 (GRCm39)		noncoding transcript	Het
Tmem184a	G	T	5: 139,798,856 (GRCm39)	T31K	possibly damaging	Het
Tmprss11e	T	A	5: 86,867,660 (GRCm39)	I137F	possibly damaging	Het
Tmprss13	C	T	9: 45,247,403 (GRCm39)	T255I	probably damaging	Het
Top1mt	G	A	15: 75,537,555 (GRCm39)		probably benign	Het
Treh	C	T	9: 44,594,258 (GRCm39)	T168I	probably benign	Het
Ttn	A	T	2: 76,597,672 (GRCm39)	I11420N	probably benign	Het
Zp2	T	C	7: 119,731,641 (GRCm39)	K705E	possibly damaging	Het
Zw10	T	C	9: 48,980,054 (GRCm39)	I395T	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
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

2015-04-16