Mutagenetix > Incidental Mutations

Incidental Mutation 'R0553:Otop2'

45294

Institutional Source

Beutler Lab

Gene Symbol

Otop2

Ensembl Gene

ENSMUSG00000050201

Gene Name

otopetrin 2

Synonyms

MMRRC Submission

038745-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0553 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115307163-115332303 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 115329462 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 376 (A376V)

Ref Sequence

ENSEMBL: ENSMUSP00000102154 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055490] [ENSMUST00000106544]

AlphaFold

Q80SX5

Predicted Effect

probably damaging
Transcript: ENSMUST00000055490
AA Change: A376V

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000062109
Gene: ENSMUSG00000050201
AA Change: A376V

Domain	Start	End	E-Value	Type
transmembrane domain	30	52	N/A	INTRINSIC
transmembrane domain	62	81	N/A	INTRINSIC
Pfam:Otopetrin	102	225	1e-18	PFAM
Pfam:Otopetrin	214	451	5.5e-20	PFAM
Pfam:Otopetrin	479	550	8.9e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106544
AA Change: A376V

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102154
Gene: ENSMUSG00000050201
AA Change: A376V

Domain	Start	End	E-Value	Type
transmembrane domain	30	52	N/A	INTRINSIC
transmembrane domain	62	81	N/A	INTRINSIC
Pfam:Otopetrin	102	450	7.9e-54	PFAM
Pfam:Otopetrin	476	550	2e-16	PFAM

Meta Mutation Damage Score

0.3756

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.1%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	T	C	14: 49,682,686	I729V	probably damaging	Het
9530002B09Rik	A	T	4: 122,702,335	M120L	unknown	Het
Adamts13	T	A	2: 26,991,334	C774*	probably null	Het
Amh	A	G	10: 80,806,176		probably benign	Het
Ccdc173	C	A	2: 69,789,441	R8L	probably damaging	Het
Cd40	G	A	2: 165,070,741	R204Q	probably benign	Het
Clhc1	A	C	11: 29,561,366		probably benign	Het
Fbxl17	G	A	17: 63,356,851	R67C	probably damaging	Het
Flg2	A	T	3: 93,203,584	H973L	unknown	Het
Fut2	T	A	7: 45,651,274	I25F	probably damaging	Het
Galnt7	T	C	8: 57,552,430		probably benign	Het
Gm438	T	A	4: 144,777,415	I389L	possibly damaging	Het
Gm7534	T	C	4: 134,202,518	T159A	possibly damaging	Het
Gm8909	G	T	17: 36,168,057	P100Q	probably damaging	Het
Gmppb	A	T	9: 108,049,797	M56L	probably benign	Het
Grm3	C	A	5: 9,570,048	A399S	probably benign	Het
Hey2	G	A	10: 30,840,489		probably benign	Het
Ift172	A	G	5: 31,275,842		probably benign	Het
Kcnh5	C	A	12: 75,137,673	C92F	probably benign	Het
Kdm1a	T	C	4: 136,555,298	D229G	probably damaging	Het
Klf11	C	G	12: 24,655,090	P164R	probably benign	Het
Klhl41	G	A	2: 69,670,210	R5Q	probably benign	Het
Krtcap3	T	C	5: 31,251,803	V6A	probably benign	Het
Ltbr	A	C	6: 125,313,388		probably null	Het
Mmp17	T	G	5: 129,598,670	S298A	probably benign	Het
Nacc2	T	A	2: 26,089,590	E278V	possibly damaging	Het
Olfr175-ps1	A	T	16: 58,824,155	Y185N	probably damaging	Het
Olfr875	T	A	9: 37,773,331	I224N	probably benign	Het
Pdia2	T	C	17: 26,196,243	E504G	probably damaging	Het
Pdzph1	C	T	17: 58,922,727	V979M	probably damaging	Het
Pou5f1	A	G	17: 35,509,477	K86R	possibly damaging	Het
Ptprq	A	G	10: 107,710,627	F269L	probably benign	Het
Rb1	A	T	14: 73,211,712	C659*	probably null	Het
Rnf8	T	C	17: 29,621,639		probably null	Het
Rras	T	G	7: 45,020,556	I137M	probably benign	Het
Slc38a9	A	T	13: 112,714,198	H372L	probably damaging	Het
Spata9	T	C	13: 75,977,779		probably null	Het
Tas2r115	T	C	6: 132,737,959	T10A	probably benign	Het
Ttn	T	C	2: 76,798,893	E12621G	probably damaging	Het
Unc80	A	T	1: 66,506,669	I460F	probably damaging	Het
Wdr17	C	T	8: 54,693,096	A90T	possibly damaging	Het
Zbtb24	C	T	10: 41,451,997	A293V	possibly damaging	Het

Other mutations in Otop2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00671:Otop2	APN	11	115331909	missense	probably damaging	1.00
IGL01832:Otop2	APN	11	115326943	missense	probably benign
IGL02114:Otop2	APN	11	115326980	missense	possibly damaging	0.64
IGL02432:Otop2	APN	11	115329162	missense	probably damaging	0.99
IGL02453:Otop2	APN	11	115324629	nonsense	probably null
IGL02986:Otop2	APN	11	115329567	missense	probably benign	0.11
IGL03225:Otop2	APN	11	115329807	missense	probably damaging	1.00
R0402:Otop2	UTSW	11	115326408	splice site	probably benign
R1209:Otop2	UTSW	11	115324643	missense	possibly damaging	0.70
R1497:Otop2	UTSW	11	115329849	splice site	probably null
R1765:Otop2	UTSW	11	115324678	missense	probably benign	0.04
R1822:Otop2	UTSW	11	115324628	missense	probably benign	0.41
R1926:Otop2	UTSW	11	115326955	missense	probably benign	0.00
R2151:Otop2	UTSW	11	115329411	missense	possibly damaging	0.90
R2192:Otop2	UTSW	11	115326931	missense	possibly damaging	0.63
R2350:Otop2	UTSW	11	115326850	missense	probably damaging	0.97
R2352:Otop2	UTSW	11	115329101	missense	probably damaging	1.00
R2915:Otop2	UTSW	11	115329146	missense	probably benign	0.07
R3614:Otop2	UTSW	11	115329146	missense	probably benign	0.07
R4060:Otop2	UTSW	11	115329375	missense	probably damaging	1.00
R4061:Otop2	UTSW	11	115329375	missense	probably damaging	1.00
R4062:Otop2	UTSW	11	115329375	missense	probably damaging	1.00
R4063:Otop2	UTSW	11	115329375	missense	probably damaging	1.00
R4064:Otop2	UTSW	11	115329375	missense	probably damaging	1.00
R4184:Otop2	UTSW	11	115329845	missense	probably benign	0.05
R4844:Otop2	UTSW	11	115323375	splice site	probably null
R5681:Otop2	UTSW	11	115326859	missense	probably damaging	1.00
R5713:Otop2	UTSW	11	115329044	missense	probably damaging	0.98
R6738:Otop2	UTSW	11	115329492	missense	probably damaging	1.00
R6975:Otop2	UTSW	11	115329326	missense	possibly damaging	0.93
R8866:Otop2	UTSW	11	115329528	missense	probably benign
R9017:Otop2	UTSW	11	115323605	missense	probably benign	0.11
R9062:Otop2	UTSW	11	115323639	missense	probably benign	0.06
R9205:Otop2	UTSW	11	115329086	missense	probably damaging	1.00
RF013:Otop2	UTSW	11	115323666	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ACAGGCCCTGGTCATCTACTACAG -3'
(R):5'- GCGGATAGCATCCAGGTTAGCAAAG -3'

Sequencing Primer
(F):5'- ACAGCTTTAACATTGTCTGTCTGG -3'
(R):5'- GGCATTTCACGAGGCTCAG -3'

Posted On

2013-06-11