Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01960:Otop3'

182369

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Otop3

Ensembl Gene

ENSMUSG00000018862

Gene Name

otopetrin 3

Synonyms

2310011E08Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

IGL01960

Quality Score

Status

Chromosome

Chromosomal Location

115225557-115237753 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115231795 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 220 (N220S)

Ref Sequence

ENSEMBL: ENSMUSP00000019006 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019006] [ENSMUST00000106543]

AlphaFold

Q80UF9

Predicted Effect

probably damaging
Transcript: ENSMUST00000019006
AA Change: N220S

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000019006
Gene: ENSMUSG00000018862
AA Change: N220S

Domain	Start	End	E-Value	Type
low complexity region	6	19	N/A	INTRINSIC
transmembrane domain	70	92	N/A	INTRINSIC
transmembrane domain	102	120	N/A	INTRINSIC
Pfam:Otopetrin	142	483	3e-40	PFAM
Pfam:Otopetrin	506	583	1.2e-14	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106543
AA Change: N220S

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000102153
Gene: ENSMUSG00000018862
AA Change: N220S

Domain	Start	End	E-Value	Type
low complexity region	6	19	N/A	INTRINSIC
transmembrane domain	70	92	N/A	INTRINSIC
transmembrane domain	102	120	N/A	INTRINSIC
transmembrane domain	141	163	N/A	INTRINSIC
transmembrane domain	178	195	N/A	INTRINSIC
transmembrane domain	208	227	N/A	INTRINSIC
Pfam:Otopetrin	241	462	2.1e-20	PFAM
Pfam:Otopetrin	487	564	2.2e-12	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	G	A	4: 129,906,177 (GRCm39)		probably benign	Het
Adh7	T	C	3: 137,932,043 (GRCm39)	I219T	probably damaging	Het
Ankmy1	C	A	1: 92,799,385 (GRCm39)		probably benign	Het
Aoc1	A	G	6: 48,885,537 (GRCm39)	I681V	probably benign	Het
Arfgap3	T	C	15: 83,197,758 (GRCm39)	T333A	probably benign	Het
Cdc42ep4	A	G	11: 113,619,830 (GRCm39)	V187A	probably benign	Het
Cyp4f40	G	A	17: 32,878,535 (GRCm39)	G26R	probably benign	Het
Dnah7b	T	A	1: 46,163,497 (GRCm39)		probably benign	Het
Dnajb4	T	C	3: 151,892,176 (GRCm39)	E219G	probably damaging	Het
Dnmt3b	A	G	2: 153,518,631 (GRCm39)	K578R	possibly damaging	Het
Dst	A	T	1: 34,329,570 (GRCm39)	D4649V	probably damaging	Het
Fam20c	T	C	5: 138,792,075 (GRCm39)	S391P	probably damaging	Het
Fbxw10	A	T	11: 62,767,582 (GRCm39)	Y801F	probably damaging	Het
Frem2	T	G	3: 53,429,725 (GRCm39)	E2775A	probably benign	Het
Frmd4b	A	T	6: 97,272,741 (GRCm39)	S830T	possibly damaging	Het
Gatad2a	T	G	8: 70,362,598 (GRCm39)	S581R	possibly damaging	Het
Gpcpd1	C	T	2: 132,381,818 (GRCm39)		probably null	Het
Igsf10	A	G	3: 59,226,158 (GRCm39)	L2505P	probably benign	Het
Igsf9b	A	G	9: 27,239,902 (GRCm39)	D649G	possibly damaging	Het
Impact	T	C	18: 13,107,815 (GRCm39)	C28R	probably benign	Het
Ino80d	G	T	1: 63,097,306 (GRCm39)	Q863K	probably damaging	Het
Iqsec1	A	C	6: 90,653,762 (GRCm39)	M675R	probably damaging	Het
Kcng3	C	T	17: 83,895,279 (GRCm39)	V396I	probably damaging	Het
Klhl18	A	T	9: 110,279,814 (GRCm39)	D60E	probably benign	Het
Krtap7-1	C	T	16: 89,305,156 (GRCm39)		probably benign	Het
Mal2	T	A	15: 54,461,941 (GRCm39)	Y145*	probably null	Het
Mcpt8	A	T	14: 56,319,864 (GRCm39)		probably null	Het
Mdn1	A	G	4: 32,758,393 (GRCm39)	D4810G	probably benign	Het
Med24	T	C	11: 98,598,368 (GRCm39)	I766V	probably benign	Het
Mga	G	A	2: 119,769,138 (GRCm39)	V1477M	probably damaging	Het
Mybph	T	A	1: 134,121,663 (GRCm39)	V112E	probably benign	Het
Nmur2	A	T	11: 55,931,337 (GRCm39)	S125T	probably damaging	Het
Or2w3	T	C	11: 58,556,691 (GRCm39)	V102A	probably benign	Het
Or6c212	A	G	10: 129,558,756 (GRCm39)	I219T	probably damaging	Het
Or8b44	A	T	9: 38,410,003 (GRCm39)	I13F	probably damaging	Het
Pacsin1	T	G	17: 27,923,809 (GRCm39)		probably null	Het
Pcsk1	A	G	13: 75,241,286 (GRCm39)	R89G	possibly damaging	Het
Pde2a	A	T	7: 101,153,947 (GRCm39)	E509V	probably benign	Het
Pex1	T	C	5: 3,677,588 (GRCm39)		probably benign	Het
Ppp4r4	T	G	12: 103,547,753 (GRCm39)		probably benign	Het
Pygb	T	A	2: 150,655,403 (GRCm39)	N251K	probably benign	Het
Rsf1	C	T	7: 97,310,782 (GRCm39)	T504I	probably benign	Het
Slc5a11	A	T	7: 122,869,163 (GRCm39)	T584S	probably benign	Het
Smad2	G	A	18: 76,395,555 (GRCm39)		probably benign	Het
Srsf6	G	A	2: 162,775,674 (GRCm39)	R161H	probably damaging	Het
Tbx3	T	A	5: 119,820,708 (GRCm39)	S573T	probably benign	Het
Tecpr1	C	T	5: 144,153,737 (GRCm39)	R172Q	probably benign	Het
Ttn	T	A	2: 76,619,244 (GRCm39)		probably null	Het
Ubr2	T	C	17: 47,284,893 (GRCm39)	M542V	probably benign	Het
Unc80	T	C	1: 66,647,659 (GRCm39)		probably benign	Het
Vmn1r222	T	A	13: 23,416,315 (GRCm39)	K299N	probably benign	Het
Wwp1	A	T	4: 19,662,115 (GRCm39)		probably benign	Het
Zbtb46	T	A	2: 181,065,928 (GRCm39)	H74L	possibly damaging	Het
Zfp106	A	T	2: 120,354,524 (GRCm39)	L1416I	probably damaging	Het
Zfp106	A	G	2: 120,369,803 (GRCm39)	L73S	probably benign	Het
Zfp667	G	A	7: 6,308,336 (GRCm39)	G335R	probably benign	Het

Other mutations in Otop3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Otop3	APN	11	115,235,279 (GRCm39)	missense	probably benign
IGL00159:Otop3	APN	11	115,235,223 (GRCm39)	missense	probably damaging	1.00
IGL01372:Otop3	APN	11	115,235,930 (GRCm39)	missense	possibly damaging	0.86
IGL01380:Otop3	APN	11	115,237,237 (GRCm39)	missense	probably damaging	1.00
IGL03099:Otop3	APN	11	115,230,408 (GRCm39)	missense	probably damaging	0.99
F5770:Otop3	UTSW	11	115,235,664 (GRCm39)	missense	probably damaging	1.00
R1560:Otop3	UTSW	11	115,235,289 (GRCm39)	missense	possibly damaging	0.89
R2847:Otop3	UTSW	11	115,235,384 (GRCm39)	missense	probably damaging	0.99
R2849:Otop3	UTSW	11	115,235,384 (GRCm39)	missense	probably damaging	0.99
R5582:Otop3	UTSW	11	115,230,165 (GRCm39)	missense	unknown
R6383:Otop3	UTSW	11	115,235,898 (GRCm39)	missense	probably damaging	0.99
R6601:Otop3	UTSW	11	115,230,673 (GRCm39)	missense	probably damaging	0.98
R7001:Otop3	UTSW	11	115,230,479 (GRCm39)	missense	probably damaging	1.00
R7339:Otop3	UTSW	11	115,237,204 (GRCm39)	missense	probably damaging	1.00
R7487:Otop3	UTSW	11	115,235,826 (GRCm39)	missense	probably benign
R7609:Otop3	UTSW	11	115,230,546 (GRCm39)	missense	possibly damaging	0.63
R7639:Otop3	UTSW	11	115,235,187 (GRCm39)	missense	possibly damaging	0.94
R7643:Otop3	UTSW	11	115,230,474 (GRCm39)	missense	probably damaging	1.00
R7820:Otop3	UTSW	11	115,230,414 (GRCm39)	missense	probably damaging	0.99
R8044:Otop3	UTSW	11	115,237,261 (GRCm39)	missense	probably damaging	1.00
R8110:Otop3	UTSW	11	115,230,221 (GRCm39)	missense	probably benign
R8281:Otop3	UTSW	11	115,235,901 (GRCm39)	missense	possibly damaging	0.88
R8556:Otop3	UTSW	11	115,235,782 (GRCm39)	missense	probably benign	0.00
R8899:Otop3	UTSW	11	115,231,886 (GRCm39)	critical splice donor site	probably null
R9137:Otop3	UTSW	11	115,235,868 (GRCm39)	missense	possibly damaging	0.88
R9165:Otop3	UTSW	11	115,235,424 (GRCm39)	missense	possibly damaging	0.62
R9306:Otop3	UTSW	11	115,237,248 (GRCm39)	missense	probably benign	0.09
R9788:Otop3	UTSW	11	115,235,087 (GRCm39)	missense	unknown
V7580:Otop3	UTSW	11	115,235,664 (GRCm39)	missense	probably damaging	1.00
V7581:Otop3	UTSW	11	115,235,664 (GRCm39)	missense	probably damaging	1.00
V7582:Otop3	UTSW	11	115,235,664 (GRCm39)	missense	probably damaging	1.00
V7583:Otop3	UTSW	11	115,235,664 (GRCm39)	missense	probably damaging	1.00
X0022:Otop3	UTSW	11	115,230,693 (GRCm39)	missense	probably benign	0.01
Z1176:Otop3	UTSW	11	115,231,838 (GRCm39)	missense	probably damaging	1.00
Z1176:Otop3	UTSW	11	115,230,670 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07