Mutagenetix > Incidental Mutation

Incidental Mutation 'R2105:Otop1'

230861

Institutional Source

Beutler Lab

Gene Symbol

Otop1

Ensembl Gene

ENSMUSG00000051596

Gene Name

otopetrin 1

Synonyms

tlt, A530025J20Rik

MMRRC Submission

040109-MU

Accession Numbers

NCBI RefSeq: NM_172709.3; MGI:2388363

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R2105 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38275972-38304217 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38300458 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 520 (D520G)

Ref Sequence

ENSEMBL: ENSMUSP00000109734 (fasta)

Gene Model

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

AlphaFold

Q80VM9

Predicted Effect

probably benign
Transcript: ENSMUST00000063136
AA Change: D516G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000061805
Gene: ENSMUSG00000051596
AA Change: D516G

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: D520G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109734
Gene: ENSMUSG00000051596
AA Change: D520G

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: 95.5%

Validation Efficiency

MGI Phenotype

Strain: 4881519; 2655558; 1856638; 4950042
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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	T	6: 121,673,500	P1189L	probably benign	Het
Acbd4	G	A	11: 103,104,439	D57N	probably damaging	Het
Acot4	A	T	12: 84,038,742	M78L	probably damaging	Het
Ago1	A	T	4: 126,461,788	M76K	probably benign	Het
Agrn	G	T	4: 156,177,299	Y511*	probably null	Het
Arhgef15	A	T	11: 68,947,681		probably null	Het
Atp1a3	A	T	7: 24,989,853	M594K	probably damaging	Het
Atp4a	G	A	7: 30,720,368		probably null	Het
Bckdk	T	A	7: 127,907,317	I272N	probably damaging	Het
Bod1l	A	G	5: 41,832,279	V367A	probably benign	Het
C1galt1c1	T	C	X: 38,631,268	M284V	possibly damaging	Het
Cenpk	T	A	13: 104,229,597	C4*	probably null	Het
Cfap53	T	C	18: 74,283,223	V9A	possibly damaging	Het
Chil3	T	C	3: 106,160,478	I124V	possibly damaging	Het
Creld2	G	A	15: 88,820,631	W103*	probably null	Het
Cyp2c67	T	C	19: 39,626,237	Y282C	probably benign	Het
D5Ertd579e	C	T	5: 36,613,449	A1201T	probably benign	Het
Dock4	A	G	12: 40,692,989	H381R	probably benign	Het
Drc1	C	T	5: 30,356,441	S447F	probably benign	Het
Fam83g	G	T	11: 61,703,458	R606L	probably benign	Het
Fmnl1	A	C	11: 103,194,692	S688R	probably benign	Het
Fryl	C	T	5: 73,122,299	V219I	probably benign	Het
Gm13101	A	T	4: 143,965,820	Y204N	probably benign	Het
Golgb1	T	A	16: 36,914,664	N1424K	probably benign	Het
Gpr39	T	C	1: 125,677,884	V183A	possibly damaging	Het
H2-T22	A	T	17: 36,040,517	Y274N	probably benign	Het
Hif1a	T	A	12: 73,937,745	Y313N	probably damaging	Het
Hip1r	T	A	5: 124,000,204	M787K	probably damaging	Het
Hipk3	T	C	2: 104,439,392	E484G	probably damaging	Het
Hsh2d	T	A	8: 72,200,646	F291I	probably benign	Het
Ino80	T	C	2: 119,431,929	E692G	probably null	Het
Itgam	T	A	7: 128,081,712	V271D	probably damaging	Het
Kansl1	A	C	11: 104,335,559	I924S	probably damaging	Het
Kcnq2	A	G	2: 181,081,352	C628R	probably benign	Het
Krt78	A	C	15: 101,947,414	V654G	possibly damaging	Het
Lrit2	A	G	14: 37,071,956	T326A	probably damaging	Het
Ltk	T	C	2: 119,752,088	E710G	probably damaging	Het
Lysmd1	T	C	3: 95,134,974	L53S	probably damaging	Het
Mc4r	T	C	18: 66,859,598	Y148C	probably damaging	Het
Mfn2	G	A	4: 147,888,705	Q172*	probably null	Het
Mknk2	A	G	10: 80,668,601	L242P	possibly damaging	Het
Mrpl45	A	T	11: 97,325,747	H167L	probably benign	Het
Myc	T	C	15: 61,988,102	V208A	probably damaging	Het
Myh7b	A	G	2: 155,629,457	E1175G	probably benign	Het
Myo18a	A	T	11: 77,850,234	M1456L	probably benign	Het
Myocd	G	A	11: 65,218,658	Q96*	probably null	Het
Nckap5	T	A	1: 126,026,518	I766F	probably damaging	Het
Ndst1	T	C	18: 60,691,253	E784G	probably benign	Het
Nf1	A	T	11: 79,469,826	R1443S	possibly damaging	Het
Nhlrc3	A	G	3: 53,453,651	W228R	probably damaging	Het
Nup107	G	A	10: 117,773,320	T378I	probably damaging	Het
Olfr1033	C	T	2: 86,041,330	T5I	probably damaging	Het
Olfr1131	A	G	2: 87,628,939	T159A	probably benign	Het
Olfr293	A	T	7: 86,664,383	K240N	probably damaging	Het
Olfr524	T	A	7: 140,202,743	D9V	probably benign	Het
Olfr607	T	A	7: 103,460,273		probably null	Het
Olfr98	A	T	17: 37,263,073	M197K	probably benign	Het
Papln	C	T	12: 83,780,236	P712S	probably benign	Het
Pcbd2	T	A	13: 55,733,033	I34N	probably damaging	Het
Pkd1l3	T	A	8: 109,647,573	C29*	probably null	Het
Pou5f1	G	A	17: 35,510,002	V114M	probably benign	Het
Prpf4b	C	A	13: 34,884,231		probably benign	Het
Prr23a1	C	T	9: 98,842,656	P24S	probably damaging	Het
Ptch1	T	A	13: 63,545,245	M65L	probably benign	Het
Rc3h2	A	T	2: 37,399,624	I392K	possibly damaging	Het
Reck	G	T	4: 43,943,195	D916Y	probably damaging	Het
Rtf2	A	G	2: 172,445,365	D68G	probably damaging	Het
Ryr1	G	T	7: 29,090,150	T1513K	probably damaging	Het
Sacs	A	G	14: 61,173,441	D55G	possibly damaging	Het
Scn9a	A	G	2: 66,568,183	S28P	probably benign	Het
Scrn3	A	G	2: 73,329,852	M280V	probably damaging	Het
Snx29	C	T	16: 11,511,034	T559I	possibly damaging	Het
Spn	C	T	7: 127,136,241	E109K	probably damaging	Het
Sra1	C	T	18: 36,675,068	R369H	probably benign	Het
Srsf11	C	T	3: 158,019,345	A64T	probably damaging	Het
Stk17b	A	G	1: 53,776,605	S12P	probably benign	Het
Sult1d1	C	A	5: 87,559,802	G153V	probably damaging	Het
Sycp2	A	T	2: 178,350,138		probably null	Het
Tgfb3	T	C	12: 86,069,769	E165G	possibly damaging	Het
Tns2	C	A	15: 102,107,506	H160N	probably benign	Het
Ubn1	T	A	16: 5,077,224	C711*	probably null	Het
Usp13	A	T	3: 32,901,986	D469V	probably damaging	Het
Vmn1r231	A	T	17: 20,890,118	H178Q	possibly damaging	Het
Vwa1	A	G	4: 155,772,793	S183P	probably damaging	Het
Xpo7	A	G	14: 70,690,991	I424T	probably benign	Het
Zfp109	A	G	7: 24,236,616		probably null	Het

Other mutations in Otop1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01555:Otop1	APN	5	38302845	missense	probably damaging	1.00
IGL01793:Otop1	APN	5	38299871	missense	possibly damaging	0.89
IGL02071:Otop1	APN	5	38287983	missense	probably damaging	1.00
IGL02111:Otop1	APN	5	38277701	missense	probably benign	0.01
IGL02660:Otop1	APN	5	38288005	missense	probably damaging	0.99
IGL02672:Otop1	APN	5	38277826	critical splice donor site	probably null
IGL03164:Otop1	APN	5	38287962	nonsense	probably null
BB008:Otop1	UTSW	5	38288020	missense	probably damaging	1.00
BB018:Otop1	UTSW	5	38288020	missense	probably damaging	1.00
P0015:Otop1	UTSW	5	38294559	splice site	probably benign
R0092:Otop1	UTSW	5	38299830	missense	probably damaging	0.97
R0639:Otop1	UTSW	5	38287948	missense	possibly damaging	0.77
R0670:Otop1	UTSW	5	38287948	missense	possibly damaging	0.77
R0673:Otop1	UTSW	5	38287948	missense	possibly damaging	0.77
R2092:Otop1	UTSW	5	38299766	missense	probably damaging	1.00
R2152:Otop1	UTSW	5	38302851	missense	probably damaging	1.00
R3971:Otop1	UTSW	5	38300189	missense	probably benign	0.04
R3972:Otop1	UTSW	5	38300189	missense	probably benign	0.04
R4575:Otop1	UTSW	5	38299721	missense	probably damaging	1.00
R4660:Otop1	UTSW	5	38300024	missense	possibly damaging	0.95
R4998:Otop1	UTSW	5	38294548	critical splice donor site	probably null
R5412:Otop1	UTSW	5	38297984	missense	probably benign	0.25
R5461:Otop1	UTSW	5	38299715	missense	probably damaging	1.00
R5607:Otop1	UTSW	5	38294504	missense	possibly damaging	0.68
R5625:Otop1	UTSW	5	38302761	missense	probably damaging	1.00
R5677:Otop1	UTSW	5	38300163	missense	probably damaging	1.00
R5792:Otop1	UTSW	5	38297916	missense	probably benign	0.04
R5878:Otop1	UTSW	5	38277822	missense	possibly damaging	0.73
R6163:Otop1	UTSW	5	38287890	splice site	probably null
R7338:Otop1	UTSW	5	38300203	nonsense	probably null
R7931:Otop1	UTSW	5	38288020	missense	probably damaging	1.00
R7994:Otop1	UTSW	5	38299851	missense	probably benign	0.02
R8224:Otop1	UTSW	5	38300503	missense	possibly damaging	0.79
R8733:Otop1	UTSW	5	38299773	missense	probably damaging	1.00
R8733:Otop1	UTSW	5	38300453	nonsense	probably null
R8987:Otop1	UTSW	5	38299727	missense	probably damaging	1.00
R9192:Otop1	UTSW	5	38287930	missense	probably benign	0.25
R9278:Otop1	UTSW	5	38302815	missense	probably damaging	1.00
R9290:Otop1	UTSW	5	38297958	missense	probably benign	0.06
X0064:Otop1	UTSW	5	38299751	missense	probably damaging	1.00
Z1177:Otop1	UTSW	5	38277770	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTGCGTGTGGTCACCGTG -3'
(R):5'- GTCAACCAGAGAGTGCCC -3'

Sequencing Primer
(F):5'- TGGTCACCGTGCTGCAG -3'
(R):5'- TTCAATGAGAGATGCTGGCTCAC -3'

Posted On

2014-09-18