Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00094:Otop3'

1104

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Otop3

Ensembl Gene

ENSMUSG00000018862

Gene Name

otopetrin 3

Synonyms

2310011E08Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

IGL00094

Quality Score

Status

Chromosome

Chromosomal Location

115334731-115346927 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115344453 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 304 (T304S)

Ref Sequence

ENSEMBL: ENSMUSP00000102153 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019006] [ENSMUST00000044152] [ENSMUST00000106542] [ENSMUST00000106543]

AlphaFold

Q80UF9

Predicted Effect

probably benign
Transcript: ENSMUST00000019006
AA Change: T323S

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

SMART Domains

Protein: ENSMUSP00000019006
Gene: ENSMUSG00000018862
AA Change: T323S

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 benign
Transcript: ENSMUST00000044152

SMART Domains

Protein: ENSMUSP00000043789
Gene: ENSMUSG00000034586

Domain	Start	End	E-Value	Type
Pfam:Dymeclin	1	763	3.9e-242	PFAM
Pfam:Hid1	1	784	3.1e-260	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106542

SMART Domains

Protein: ENSMUSP00000102152
Gene: ENSMUSG00000034586

Domain	Start	End	E-Value	Type
Pfam:Dymeclin	1	764	7.5e-275	PFAM
Pfam:Hid1	1	785	2.3e-261	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106543
AA Change: T304S

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

SMART Domains

Protein: ENSMUSP00000102153
Gene: ENSMUSG00000018862
AA Change: T304S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146256

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006E09Rik	A	G	11: 101,990,820	E114G	possibly damaging	Het
Aacs	T	A	5: 125,514,190	N547K	probably benign	Het
Abca13	A	G	11: 9,297,443	T2397A	probably benign	Het
Abcc1	A	G	16: 14,470,534	N1341S	probably null	Het
Adcy9	T	A	16: 4,304,582	I535L	probably benign	Het
Akap6	A	G	12: 53,140,980	S1726G	possibly damaging	Het
Ap3d1	T	C	10: 80,741,979	M5V	probably benign	Het
Ash1l	T	A	3: 88,981,712	N299K	probably benign	Het
B3gnt2	C	T	11: 22,836,151	V346I	probably benign	Het
Ceacam14	G	A	7: 17,814,137	V51I	probably damaging	Het
Cfap69	T	C	5: 5,584,682	D812G	probably damaging	Het
Chrna9	T	C	5: 65,969,257	V118A	probably benign	Het
Cpsf7	A	G	19: 10,539,787	R418G	probably damaging	Het
Csnk1g3	T	C	18: 53,919,003	Y215H	probably damaging	Het
Dcaf5	A	C	12: 80,339,323	N676K	probably benign	Het
Dld	A	T	12: 31,335,577	M255K	probably benign	Het
Esr2	A	T	12: 76,133,896	L417H	probably damaging	Het
Fsip2	T	A	2: 82,990,386	S5488T	probably benign	Het
Gatb	A	T	3: 85,601,920	I130L	possibly damaging	Het
Gbp9	T	C	5: 105,081,264	K506E	probably benign	Het
Hkdc1	T	C	10: 62,393,789	N703S	probably damaging	Het
Itgb3	T	A	11: 104,633,584	V182E	probably damaging	Het
Itih4	A	T	14: 30,895,469	Y582F	probably damaging	Het
Lancl2	T	A	6: 57,724,537		probably benign	Het
Lgals3	A	G	14: 47,384,718	K197R	probably benign	Het
Lipe	T	C	7: 25,383,552	T767A	probably damaging	Het
Lrp2	T	A	2: 69,507,779	D1219V	probably damaging	Het
Lrriq3	T	A	3: 155,101,061	C116S	probably benign	Het
Mcm5	T	G	8: 75,124,945		probably null	Het
Mtpn	G	T	6: 35,522,776	T31K	probably damaging	Het
Mycbp2	A	T	14: 103,223,050	Y1494N	probably damaging	Het
Nbeal1	G	T	1: 60,235,191	E498*	probably null	Het
Nos1	T	G	5: 117,910,100	S657A	probably damaging	Het
Nr3c1	A	T	18: 39,428,608		probably null	Het
Olfr1126	T	A	2: 87,457,927	V254E	probably damaging	Het
Olfr1262	T	A	2: 90,003,021	I205N	possibly damaging	Het
Olfr1502	A	T	19: 13,861,786		probably benign	Het
Olfr281	T	G	15: 98,456,418	V36G	possibly damaging	Het
Olfr44	T	C	9: 39,484,648	I202V	probably benign	Het
Olfr45	A	T	7: 140,691,436	H177L	probably damaging	Het
Olfr851	T	A	9: 19,496,859	I37N	probably damaging	Het
Osbp2	T	G	11: 3,711,848	S735R	probably benign	Het
Pcdhac2	A	T	18: 37,145,075	L369F	probably damaging	Het
Pick1	T	C	15: 79,247,257		probably benign	Het
Prlhr	A	T	19: 60,467,681	V149E	probably damaging	Het
Prss12	G	A	3: 123,486,949		probably benign	Het
Rab19	A	T	6: 39,388,198		probably benign	Het
Ralgapb	T	C	2: 158,420,856	W5R	probably damaging	Het
Rfx4	T	A	10: 84,840,199	L44Q	probably damaging	Het
Scube2	T	C	7: 109,808,454	T760A	probably damaging	Het
Shcbp1	A	C	8: 4,754,258	Y145*	probably null	Het
Snx31	T	A	15: 36,545,616		probably null	Het
Spopl	A	T	2: 23,537,631	V163E	possibly damaging	Het
Sqor	T	C	2: 122,787,543	I107T	probably damaging	Het
Tcte1	T	C	17: 45,534,928	F153L	probably damaging	Het
Tnfrsf11b	T	A	15: 54,259,842	H121L	probably damaging	Het
Tnip1	G	T	11: 54,940,817	Y10*	probably null	Het
Tnxb	G	T	17: 34,685,629	G1123C	probably damaging	Het
Wdr62	T	C	7: 30,243,523	E515G	probably benign	Het
Zfand1	A	T	3: 10,348,530	D32E	probably null	Het
Zfp112	A	C	7: 24,122,243	T3P	probably damaging	Het

Other mutations in Otop3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Otop3	APN	11	115344397	missense	probably damaging	1.00
IGL01372:Otop3	APN	11	115345104	missense	possibly damaging	0.86
IGL01380:Otop3	APN	11	115346411	missense	probably damaging	1.00
IGL01960:Otop3	APN	11	115340969	missense	probably damaging	0.97
IGL03099:Otop3	APN	11	115339582	missense	probably damaging	0.99
F5770:Otop3	UTSW	11	115344838	missense	probably damaging	1.00
R1560:Otop3	UTSW	11	115344463	missense	possibly damaging	0.89
R2847:Otop3	UTSW	11	115344558	missense	probably damaging	0.99
R2849:Otop3	UTSW	11	115344558	missense	probably damaging	0.99
R5582:Otop3	UTSW	11	115339339	missense	unknown
R6383:Otop3	UTSW	11	115345072	missense	probably damaging	0.99
R6601:Otop3	UTSW	11	115339847	missense	probably damaging	0.98
R7001:Otop3	UTSW	11	115339653	missense	probably damaging	1.00
R7339:Otop3	UTSW	11	115346378	missense	probably damaging	1.00
R7487:Otop3	UTSW	11	115345000	missense	probably benign
R7609:Otop3	UTSW	11	115339720	missense	possibly damaging	0.63
R7639:Otop3	UTSW	11	115344361	missense	possibly damaging	0.94
R7643:Otop3	UTSW	11	115339648	missense	probably damaging	1.00
R7820:Otop3	UTSW	11	115339588	missense	probably damaging	0.99
R8044:Otop3	UTSW	11	115346435	missense	probably damaging	1.00
R8110:Otop3	UTSW	11	115339395	missense	probably benign
R8281:Otop3	UTSW	11	115345075	missense	possibly damaging	0.88
R8556:Otop3	UTSW	11	115344956	missense	probably benign	0.00
R8899:Otop3	UTSW	11	115341060	critical splice donor site	probably null
R9137:Otop3	UTSW	11	115345042	missense	possibly damaging	0.88
R9165:Otop3	UTSW	11	115344598	missense	possibly damaging	0.62
R9306:Otop3	UTSW	11	115346422	missense	probably benign	0.09
R9788:Otop3	UTSW	11	115344261	missense	unknown
V7580:Otop3	UTSW	11	115344838	missense	probably damaging	1.00
V7581:Otop3	UTSW	11	115344838	missense	probably damaging	1.00
V7582:Otop3	UTSW	11	115344838	missense	probably damaging	1.00
V7583:Otop3	UTSW	11	115344838	missense	probably damaging	1.00
X0022:Otop3	UTSW	11	115339867	missense	probably benign	0.01
Z1176:Otop3	UTSW	11	115339844	missense	probably damaging	1.00
Z1176:Otop3	UTSW	11	115341012	missense	probably damaging	1.00

Posted On

2011-07-12