Mutagenetix > Incidental Mutations

Incidental Mutation 'R5878:Otop1'

490534

Institutional Source

Beutler Lab

Gene Symbol

Otop1

Ensembl Gene

ENSMUSG00000051596

Gene Name

otopetrin 1

Synonyms

tlt, A530025J20Rik

MMRRC Submission

044084-MU

Accession Numbers

NCBI RefSeq: NM_172709.3; MGI:2388363

Is this an essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R5878 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38275972-38304217 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 38277822 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 132 (R132L)

Ref Sequence

ENSEMBL: ENSMUSP00000109734 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063136
AA Change: R129L

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000061805
Gene: ENSMUSG00000051596
AA Change: R129L

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

possibly damaging
Transcript: ENSMUST00000114099
AA Change: R132L

PolyPhen 2 Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000109734
Gene: ENSMUSG00000051596
AA Change: R132L

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

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.7%

Validation Efficiency

99% (66/67)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	A	1: 105,692,960	S387T	probably benign	Het
Abca12	A	T	1: 71,346,633	N275K	possibly damaging	Het
Abhd6	G	A	14: 8,028,286	V6I	probably benign	Het
Afap1l2	T	C	19: 56,915,675	T727A	probably benign	Het
Aggf1	T	C	13: 95,369,557	E174G	probably benign	Het
Ahnak	T	G	19: 9,008,342	L2330R	probably damaging	Het
Arfgef2	A	G	2: 166,870,217	T1205A	probably benign	Het
Ccdc3	T	C	2: 5,229,016	L217P	probably benign	Het
Cfap54	T	C	10: 92,964,561	D1595G	probably benign	Het
Cps1	G	T	1: 67,157,878		probably null	Het
Fam120b	A	G	17: 15,402,240	D160G	probably damaging	Het
Fam172a	T	A	13: 77,952,067	V129E	probably damaging	Het
Fezf1	C	A	6: 23,247,581	R165L	possibly damaging	Het
Fkbp15	A	T	4: 62,306,908	L838H	probably benign	Het
Frmd3	G	A	4: 74,153,610	G243D	probably damaging	Het
Gldc	A	T	19: 30,143,467		probably null	Het
Gm10188	T	C	1: 132,229,202		probably benign	Het
Gm5190	T	A	12: 113,397,239		noncoding transcript	Het
Gria1	T	C	11: 57,317,802		probably null	Het
Hdhd5	A	G	6: 120,514,524	L206P	probably damaging	Het
Herc2	A	G	7: 56,124,248	N1149S	probably benign	Het
Inca1	G	A	11: 70,695,982		probably benign	Het
Iqch	G	A	9: 63,547,990	S175F	probably damaging	Het
Itpr3	T	G	17: 27,110,862	D1543E	probably benign	Het
Khk	T	A	5: 30,930,875		probably null	Het
Kiz	C	T	2: 146,889,601	S337L	probably damaging	Het
Lzts3	G	A	2: 130,636,539	T213I	probably damaging	Het
Mab21l2	T	A	3: 86,546,718	D325V	probably damaging	Het
Mctp2	A	G	7: 72,214,108	S336P	probably benign	Het
Me3	T	A	7: 89,848,006	L405Q	probably benign	Het
Mgst2	A	T	3: 51,661,230		probably benign	Het
Myh2	A	G	11: 67,192,504	E1431G	probably damaging	Het
Naip6	A	G	13: 100,299,673	S781P	probably damaging	Het
Nr3c2	A	G	8: 76,908,268		probably null	Het
Olfr509	A	T	7: 108,645,739	L279Q	probably damaging	Het
Olfr750	A	G	14: 51,070,992	Y134H	probably damaging	Het
Olfr986	C	T	9: 40,187,571	T152I	probably benign	Het
Parg	T	A	14: 32,217,662	D548E	possibly damaging	Het
Pcdhga4	G	T	18: 37,687,686	G763W	probably benign	Het
Pde10a	A	G	17: 8,949,372	N9S	possibly damaging	Het
Pi4k2a	T	C	19: 42,100,641	I147T	probably benign	Het
Polh	T	A	17: 46,194,325	T122S	probably damaging	Het
Ptpn13	T	C	5: 103,477,118	V96A	possibly damaging	Het
Ptpn6	C	A	6: 124,728,785	C132F	probably damaging	Het
Rbm19	T	A	5: 120,132,867	V585E	probably damaging	Het
Rp1l1	C	T	14: 64,028,906	P647L	probably benign	Het
Rrp1b	A	G	17: 32,047,675	E72G	probably damaging	Het
Shcbp1	A	T	8: 4,748,742	H392Q	probably benign	Het
Skiv2l	C	T	17: 34,846,117	R371Q	possibly damaging	Het
Slc13a5	G	A	11: 72,253,391	T287I	possibly damaging	Het
Slc22a27	T	A	19: 7,926,757	E5V	probably benign	Het
Slc38a2	A	G	15: 96,692,584	V293A	probably damaging	Het
Slco6d1	T	A	1: 98,463,836		probably benign	Het
Sri	G	C	5: 8,059,353	D46H	probably damaging	Het
Tango6	A	G	8: 106,689,168	D207G	possibly damaging	Het
Tigd4	T	C	3: 84,594,442	M222T	probably benign	Het
Tmem229a	T	C	6: 24,955,173	D194G	probably benign	Het
Trank1	T	C	9: 111,366,685	V1259A	possibly damaging	Het
Trdv5	T	C	14: 54,148,798	D70G	probably benign	Het
Trim52	T	A	14: 106,106,941	M11K	probably damaging	Het
Wdr62	A	G	7: 30,241,347	M882T	probably benign	Het
Ybx3	A	G	6: 131,367,763		probably null	Het
Zfand2b	A	G	1: 75,170,510		probably benign	Het
Zfp91	T	A	19: 12,770,320	T480S	possibly damaging	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
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
R2105:Otop1	UTSW	5	38300458	missense	probably benign
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
R6163:Otop1	UTSW	5	38287890	splice site	probably null
R7338:Otop1	UTSW	5	38300203	nonsense	probably null
X0064:Otop1	UTSW	5	38299751	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTCTGAGCAGCCAGTATGG -3'
(R):5'- TCATAGAAGCCTTGAGTGCC -3'

Sequencing Primer
(F):5'- AGTATGGACTGAACGTGTTCG -3'
(R):5'- GGGAGAGAGTGGCCTGC -3'

Posted On

2017-10-20