Mutagenetix > Incidental Mutation

Incidental Mutation 'R9205:Otop2'

698467

Institutional Source

Beutler Lab

Gene Symbol

Otop2

Ensembl Gene

ENSMUSG00000050201

Gene Name

otopetrin 2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9205 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115307163-115332303 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115329086 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 251 (Y251H)

Ref Sequence

ENSEMBL: ENSMUSP00000062109 (fasta)

Gene Model

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

AlphaFold

Q80SX5

Predicted Effect

probably damaging
Transcript: ENSMUST00000055490
AA Change: Y251H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000062109
Gene: ENSMUSG00000050201
AA Change: Y251H

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: Y251H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102154
Gene: ENSMUSG00000050201
AA Change: Y251H

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

0.3937

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.3%

Validation Efficiency

95% (76/80)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp2	T	A	6: 140,642,228	H341Q	probably damaging	Het
Apob	G	A	12: 7,980,635	A125T	probably damaging	Het
Bace2	G	T	16: 97,356,859	A20S	unknown	Het
Bcar1	T	C	8: 111,715,709	Y238C	probably damaging	Het
Brinp3	A	T	1: 146,902,089	D758V	possibly damaging	Het
Btnl10	T	C	11: 58,920,519	S223P	probably damaging	Het
Cckar	C	T	5: 53,707,245		probably null	Het
Cdhr2	A	G	13: 54,713,988	N66S	probably benign	Het
Chd9	A	G	8: 91,030,642	M1890V	probably benign	Het
Col6a5	C	T	9: 105,878,638	G2196R	probably damaging	Het
Col9a1	T	G	1: 24,185,094	M119R	unknown	Het
Cryaa	A	G	17: 31,679,668	H123R	probably damaging	Het
Cux1	A	T	5: 136,370,135	D171E	probably damaging	Het
Dgkz	T	A	2: 91,933,799	T1067S	probably benign	Het
Dnah11	C	T	12: 118,027,516	E2372K	probably damaging	Het
Dnah5	T	C	15: 28,448,334	M4181T	possibly damaging	Het
Dnajb14	A	G	3: 137,908,384	E352G	possibly damaging	Het
Dnmt3l	T	A	10: 78,056,752		probably null	Het
Dph6	T	C	2: 114,569,514	I117V	probably damaging	Het
Dsg1a	A	G	18: 20,340,171	D767G	probably damaging	Het
Edn3	C	T	2: 174,761,689	P77S	possibly damaging	Het
Elmsan1	A	C	12: 84,152,887	F1020V	probably benign	Het
Fbln7	A	C	2: 128,895,248	S328R	probably null	Het
Fbn2	T	C	18: 58,059,356	R1518G	probably damaging	Het
Foxi2	A	T	7: 135,411,796	T252S	probably benign	Het
Foxred2	A	G	15: 77,952,006	S384P	probably damaging	Het
Gdpd1	G	A	11: 87,045,183	H174Y	probably benign	Het
Gm10542	A	C	18: 44,204,638	D61A	possibly damaging	Het
Gm10563	TTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTC	4: 155,635,850		probably benign	Het
H2-Ab1	A	G	17: 34,265,007	E114G	probably damaging	Het
Htt	C	T	5: 34,819,023	T723M	probably benign	Het
Igfn1	C	T	1: 135,975,957	V348I	probably damaging	Het
Itpr1	T	A	6: 108,489,849	L2173Q	probably damaging	Het
Lamp5	A	G	2: 136,059,601	Y115C	probably damaging	Het
Lrp1	T	A	10: 127,594,981	K400*	probably null	Het
Man2a2	C	T	7: 80,361,120	V708I	probably benign	Het
Matr3	T	C	18: 35,587,721	S746P	probably benign	Het
Me1	C	T	9: 86,598,794	V353M	probably benign	Het
Nbeal1	T	A	1: 60,278,680	D1925E	probably damaging	Het
Oca2	T	A	7: 56,316,420	F387I	probably damaging	Het
Olfr1163	T	A	2: 88,070,434	H316L	probably benign	Het
Olfr181	T	G	16: 58,926,122	I150L	probably benign	Het
Olfr181	G	T	16: 58,926,123	F149L	probably benign	Het
Olfr212	T	A	6: 116,516,354	N192K	probably benign	Het
Olfr420	T	C	1: 174,158,890	I39T	probably benign	Het
Olfr912	T	A	9: 38,582,077	S267T	probably benign	Het
Opn3	G	T	1: 175,663,089	N335K	probably benign	Het
Osm	A	G	11: 4,238,504	N44D	possibly damaging	Het
Pappa	T	C	4: 65,156,375	S389P	possibly damaging	Het
Polr1d	C	T	5: 147,101,258	A19V	probably damaging	Het
Ptchd4	G	A	17: 42,503,385	V726M	probably benign	Het
Pzp	T	A	6: 128,496,663	D731V	probably benign	Het
Rgl2	A	T	17: 33,936,028	I669F	probably damaging	Het
Rpl38	T	C	11: 114,672,288	*71R	probably null	Het
Rufy1	G	A	11: 50,398,474	R514W	probably damaging	Het
Ruvbl2	G	A	7: 45,434,317		probably benign	Het
Scn9a	T	G	2: 66,533,313	I874L	probably damaging	Het
Slc14a2	A	G	18: 78,195,736	S85P	probably benign	Het
Slc17a1	A	G	13: 23,878,811	I287V	probably benign	Het
Slc35f3	T	A	8: 126,389,189	I285N	probably damaging	Het
Slx4	A	G	16: 3,988,063	S542P	possibly damaging	Het
Sox30	A	T	11: 46,017,353	L782F	probably damaging	Het
Sspo	A	G	6: 48,455,872	N894S	probably benign	Het
Syne1	G	A	10: 5,202,013	Q5765*	probably null	Het
Taar7e	T	C	10: 24,038,074	I154T	probably benign	Het
Tars	A	G	15: 11,397,179		probably null	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,160,856		probably null	Het
Tmem198b	A	T	10: 128,803,188	C29S	probably damaging	Het
Tnr	A	C	1: 159,895,047	M1021L	probably benign	Het
Tom1l1	G	A	11: 90,657,818	P309L	probably damaging	Het
Traf4	A	G	11: 78,161,101	S186P	probably benign	Het
Trpm1	T	G	7: 64,240,571	V974G	possibly damaging	Het
Tsga10	T	A	1: 37,841,278		probably benign	Het
Tyw1	G	A	5: 130,269,224	R202Q	probably damaging	Het
Vmn2r93	A	T	17: 18,304,019	I92F	probably damaging	Het
Zfp457	A	T	13: 67,293,901	D203E	probably benign	Het
Zfp518b	G	A	5: 38,674,158	S168F	probably damaging	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,890,600		probably benign	Het
Zfp777	G	A	6: 48,025,587	T523M	probably benign	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
R0553:Otop2	UTSW	11	115329462	missense	probably damaging	0.98
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
R9524:Otop2	UTSW	11	115323677	missense	probably benign	0.00
RF013:Otop2	UTSW	11	115323666	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CTTTGGGCTGGCAGAAAGAAC -3'
(R):5'- TAGTAGATGACCAGGGCCTGTC -3'

Sequencing Primer
(F):5'- CTGGCAGAAAGAACCCCTGG -3'
(R):5'- TCGGGTGTGGCCTCTCTC -3'

Posted On

2022-02-07