Mutagenetix > Incidental Mutation

Incidental Mutation 'R2152:Otop1'

234370

Institutional Source

Beutler Lab

Gene Symbol

Otop1

Ensembl Gene

ENSMUSG00000051596

Gene Name

otopetrin 1

Synonyms

tlt, A530025J20Rik

MMRRC Submission

040155-MU

Accession Numbers

Essential gene?

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

Stock #

R2152 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38434748-38461560 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38460194 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 587 (M587K)

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: M583K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000061805
Gene: ENSMUSG00000051596
AA Change: M583K

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: M587K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109734
Gene: ENSMUSG00000051596
AA Change: M587K

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr3	A	T	1: 90,141,565 (GRCm39)	Y8F	probably benign	Het
Acy1	T	C	9: 106,312,816 (GRCm39)	E175G	probably damaging	Het
Add2	T	C	6: 86,075,580 (GRCm39)	L243P	probably damaging	Het
Adsl	A	G	15: 80,851,863 (GRCm39)	D407G	probably damaging	Het
Afg3l1	T	G	8: 124,221,575 (GRCm39)	I478S	probably damaging	Het
Aoc1l1	T	A	6: 48,953,473 (GRCm39)	I466N	probably damaging	Het
Arfrp1	T	C	2: 181,001,487 (GRCm39)	T108A	probably benign	Het
Art5	A	G	7: 101,747,407 (GRCm39)	L124P	possibly damaging	Het
Asap2	A	T	12: 21,162,084 (GRCm39)	T14S	probably damaging	Het
Atp2c2	A	G	8: 120,482,841 (GRCm39)	N901S	probably benign	Het
Bbs12	G	T	3: 37,375,309 (GRCm39)	E586*	probably null	Het
Bicd2	G	T	13: 49,533,052 (GRCm39)	C546F	probably damaging	Het
Bid	A	T	6: 120,877,215 (GRCm39)	L42Q	probably damaging	Het
Bpifb9a	A	G	2: 154,102,055 (GRCm39)	K51E	probably benign	Het
Calcr	G	T	6: 3,687,615 (GRCm39)	T424K	probably benign	Het
Cd46	A	G	1: 194,744,721 (GRCm39)	I339T	probably benign	Het
Chek1	C	A	9: 36,635,279 (GRCm39)	V35F	probably damaging	Het
Cntn3	A	G	6: 102,183,498 (GRCm39)	I719T	probably damaging	Het
Cyb5r1	T	C	1: 134,337,363 (GRCm39)	I163T	possibly damaging	Het
Cyp2d26	A	T	15: 82,676,907 (GRCm39)		probably null	Het
Dclk1	A	G	3: 55,154,633 (GRCm39)	Y21C	probably damaging	Het
Dgcr2	G	A	16: 17,709,351 (GRCm39)		probably null	Het
Dhx38	T	C	8: 110,287,306 (GRCm39)	S221G	probably benign	Het
Dis3l	T	A	9: 64,214,545 (GRCm39)	N981I	probably benign	Het
Dnah3	C	T	7: 119,551,236 (GRCm39)	V3028I	probably benign	Het
Dnah6	T	C	6: 73,026,149 (GRCm39)	Y3448C	probably benign	Het
Dok5	G	A	2: 170,642,816 (GRCm39)	G38D	probably damaging	Het
Epb41l1	A	G	2: 156,356,048 (GRCm39)	D528G	probably damaging	Het
Fat4	A	T	3: 39,037,544 (GRCm39)	Y3732F	probably damaging	Het
Fcsk	T	A	8: 111,615,704 (GRCm39)	T542S	probably benign	Het
Fgfr4	A	T	13: 55,314,777 (GRCm39)	Y640F	probably damaging	Het
Foxo6	T	A	4: 120,125,811 (GRCm39)	D328V	probably benign	Het
Foxp1	A	G	6: 98,993,502 (GRCm39)	L134P	probably damaging	Het
Frem2	G	A	3: 53,424,450 (GRCm39)	R2996*	probably null	Het
Garem2	T	C	5: 30,313,297 (GRCm39)	S54P	probably damaging	Het
Gcn1	T	A	5: 115,747,888 (GRCm39)	I1765N	probably benign	Het
Gm4787	T	A	12: 81,423,993 (GRCm39)	I722F	probably benign	Het
Gpc6	G	T	14: 117,163,504 (GRCm39)	A53S	probably benign	Het
Gtpbp8	A	G	16: 44,560,390 (GRCm39)		probably null	Het
H2-Q2	T	C	17: 35,564,252 (GRCm39)		probably null	Het
Hapln2	C	A	3: 87,930,920 (GRCm39)	R157L	probably benign	Het
Hemgn	C	A	4: 46,396,607 (GRCm39)	E210*	probably null	Het
Hpse	T	A	5: 100,839,269 (GRCm39)	K360*	probably null	Het
Iqcj	A	T	3: 67,962,643 (GRCm39)	E68V	probably damaging	Het
Kat2a	T	C	11: 100,603,172 (GRCm39)		probably benign	Het
Kat6b	A	T	14: 21,718,735 (GRCm39)	H1138L	probably benign	Het
Kcnab1	A	T	3: 65,278,861 (GRCm39)	I371F	probably damaging	Het
Klhl30	C	A	1: 91,285,546 (GRCm39)	A356D	probably benign	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Micu1	G	T	10: 59,699,110 (GRCm39)	M468I	probably benign	Het
Mrc1	A	G	2: 14,332,675 (GRCm39)	T1292A	probably damaging	Het
Myh8	G	A	11: 67,185,295 (GRCm39)	E849K	probably damaging	Het
Myom3	G	T	4: 135,530,544 (GRCm39)	R1152L	probably benign	Het
Nedd4l	T	A	18: 65,343,401 (GRCm39)	H820Q	probably damaging	Het
Nlrp4g	T	A	9: 124,353,339 (GRCm38)		noncoding transcript	Het
Oga	A	T	19: 45,746,461 (GRCm39)	Y779*	probably null	Het
Or13p5	C	T	4: 118,592,446 (GRCm39)	A240V	possibly damaging	Het
Or1m1	T	C	9: 18,666,391 (GRCm39)	D180G	probably damaging	Het
Or2a51	A	G	6: 43,179,003 (GRCm39)	I142V	probably benign	Het
Or51a39	G	T	7: 102,362,788 (GRCm39)	H277Q	probably benign	Het
Or52j3	A	T	7: 102,835,847 (GRCm39)	D13V	probably benign	Het
Or8b49	G	T	9: 38,505,707 (GRCm39)	L63F	probably damaging	Het
Or8g54	A	T	9: 39,706,943 (GRCm39)	I91F	probably benign	Het
Or9s23	T	C	1: 92,501,630 (GRCm39)	S246P	probably damaging	Het
Pgm5	T	A	19: 24,812,179 (GRCm39)	I118F	probably damaging	Het
Phc2	A	G	4: 128,638,859 (GRCm39)	*41W	probably null	Het
Phf8-ps	T	A	17: 33,285,908 (GRCm39)	D298V	probably damaging	Het
Piezo2	A	T	18: 63,247,112 (GRCm39)	M532K	probably damaging	Het
Pjvk	A	T	2: 76,488,713 (GRCm39)	I295F	probably benign	Het
Popdc2	A	G	16: 38,183,482 (GRCm39)	N155S	possibly damaging	Het
Ppp4r3a	G	T	12: 101,008,826 (GRCm39)	N684K	probably damaging	Het
Prpf4b	T	A	13: 35,084,402 (GRCm39)	M930K	probably benign	Het
Ptpn12	C	A	5: 21,207,466 (GRCm39)	Q297H	probably damaging	Het
Ptprz1	C	A	6: 23,030,670 (GRCm39)	L1010I	probably damaging	Het
Rabepk	A	T	2: 34,674,562 (GRCm39)	D232E	possibly damaging	Het
Rad51ap2	A	G	12: 11,507,986 (GRCm39)	H636R	probably benign	Het
Rb1	T	C	14: 73,526,165 (GRCm39)	T169A	probably benign	Het
Rcc2	T	C	4: 140,444,428 (GRCm39)	L373P	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rrbp1	A	G	2: 143,796,118 (GRCm39)	L1200P	possibly damaging	Het
Sdk1	A	G	5: 141,778,699 (GRCm39)	N226D	probably damaging	Het
Selenbp1	G	A	3: 94,851,441 (GRCm39)	R398H	probably damaging	Het
Selenoo	A	G	15: 88,983,485 (GRCm39)	M509V	probably benign	Het
Sidt2	T	C	9: 45,856,638 (GRCm39)	D477G	probably damaging	Het
Slc2a5	T	G	4: 150,210,095 (GRCm39)	S27A	probably damaging	Het
Slc30a5	A	T	13: 100,940,457 (GRCm39)	H619Q	probably damaging	Het
Slc5a9	A	G	4: 111,750,420 (GRCm39)	I146T	possibly damaging	Het
Slc6a1	G	T	6: 114,284,731 (GRCm39)	G263V	probably damaging	Het
Slmap	A	G	14: 26,139,402 (GRCm39)	Y771H	probably damaging	Het
Snx29	A	G	16: 11,218,707 (GRCm39)	D181G	possibly damaging	Het
Spata31d1c	G	A	13: 65,181,779 (GRCm39)		probably null	Het
Stat5a	C	A	11: 100,764,916 (GRCm39)	T213N	probably benign	Het
Stt3a	A	T	9: 36,659,292 (GRCm39)	V349D	probably damaging	Het
Tcf20	A	T	15: 82,739,803 (GRCm39)	D549E	probably damaging	Het
Thbs2	T	A	17: 14,893,471 (GRCm39)	D903V	probably damaging	Het
Tln2	T	C	9: 67,209,842 (GRCm39)	T432A	probably damaging	Het
Tmc1	A	T	19: 20,834,039 (GRCm39)	N241K	probably benign	Het
Tmem260	G	T	14: 48,715,066 (GRCm39)	R240L	possibly damaging	Het
Tnfaip6	A	T	2: 51,933,742 (GRCm39)	E32D	probably damaging	Het
Trpa1	A	T	1: 14,969,625 (GRCm39)	H381Q	probably damaging	Het
Tsen2	T	C	6: 115,524,936 (GRCm39)	I45T	possibly damaging	Het
Ttc6	G	A	12: 57,752,338 (GRCm39)	V1415I	probably damaging	Het
Ttll7	G	T	3: 146,635,944 (GRCm39)	R426L	probably damaging	Het
Ttn	A	C	2: 76,570,482 (GRCm39)	S26804A	probably damaging	Het
Ubqlnl	A	T	7: 103,797,890 (GRCm39)	C536S	probably benign	Het
Vmn2r73	A	G	7: 85,506,936 (GRCm39)	V792A	probably benign	Het
Zfp345	T	C	2: 150,314,578 (GRCm39)	T320A	probably benign	Het
Zfp407	T	C	18: 84,227,774 (GRCm39)	D1945G	possibly 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
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'- CCTTGCCAGTGATGCTGTAG -3'
(R):5'- TCCAGCTATCTTGTGCAGTTG -3'

Sequencing Primer
(F):5'- CTGTAGCATGATTTGAAGTGGAGAC -3'
(R):5'- TCGAGGGCAACTCCAGACAG -3'

Posted On

2014-10-01