Mutagenetix > Incidental Mutation

Incidental Mutation 'V7583:Otop3'

152665

Institutional Source

Beutler Lab

Gene Symbol

Otop3

Ensembl Gene

ENSMUSG00000018862

Gene Name

otopetrin 3

Synonyms

2310011E08Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

V7583 () of strain stinger

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115334731-115346927 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115344838 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 432 (L432Q)

Ref Sequence

ENSEMBL: ENSMUSP00000102153 (fasta)

Gene Model

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

AlphaFold

Q80UF9

Predicted Effect

probably damaging
Transcript: ENSMUST00000019006
AA Change: L451Q

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

SMART Domains

Protein: ENSMUSP00000019006
Gene: ENSMUSG00000018862
AA Change: L451Q

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 damaging
Transcript: ENSMUST00000106543
AA Change: L432Q

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

SMART Domains

Protein: ENSMUSP00000102153
Gene: ENSMUSG00000018862
AA Change: L432Q

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

Meta Mutation Damage Score

0.6093

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	A	T	4: 122,701,257	H102L	possibly damaging	Het
Atp6v1h	A	G	1: 5,124,443	T282A	possibly damaging	Het
Cdc42bpb	C	T	12: 111,296,391	G1501S	probably benign	Het
D630003M21Rik	T	C	2: 158,201,011	T870A	probably benign	Het
Dcaf4	C	A	12: 83,537,701		probably null	Het
Dnajc22	T	A	15: 99,101,482	Y183N	probably damaging	Het
Dpyd	C	T	3: 118,897,126	Q295*	probably null	Het
Erv3	T	C	2: 131,855,926	H171R	possibly damaging	Het
Fam221b	T	C	4: 43,665,865	T249A	probably benign	Het
Fcgr1	T	C	3: 96,284,276	*405W	probably null	Het
Gm10770	T	A	2: 150,179,484	K38*	probably null	Het
Golga4	A	G	9: 118,556,075	E727G	possibly damaging	Het
Hnrnpab	A	T	11: 51,602,624	N252K	probably benign	Het
Ing1	T	C	8: 11,561,934	V124A	probably damaging	Het
Izumo4	A	T	10: 80,703,891	T155S	probably benign	Het
Kcnb2	A	G	1: 15,710,091	I396V	probably benign	Het
Lrp4	C	T	2: 91,488,518	S900L	possibly damaging	Het
Mbd5	A	G	2: 49,316,410	D1713G	probably damaging	Het
Muc6	T	G	7: 141,647,613	E808A	probably benign	Het
Mylk	G	T	16: 34,995,204		probably null	Het
Nbeal2	A	G	9: 110,637,937	V670A	possibly damaging	Het
Nphp3	T	C	9: 104,035,894		probably null	Het
Numbl	T	C	7: 27,279,602	S379P	probably benign	Het
Pelp1	T	A	11: 70,398,150	T257S	probably damaging	Het
Pigx	T	C	16: 32,087,422	D129G	probably damaging	Het
Pik3cd	A	C	4: 149,657,319	L390R	probably damaging	Het
Plekhb1	T	C	7: 100,654,618	T112A	probably benign	Het
Recql4	T	C	15: 76,706,169	D705G	possibly damaging	Het
Ror1	A	G	4: 100,440,933	Q501R	probably damaging	Het
Sirpb1b	A	G	3: 15,503,183	V366A	probably benign	Het
Slc30a4	T	A	2: 122,689,538	M136L	probably benign	Het
Spaca1	T	C	4: 34,039,311	E192G	probably damaging	Het
Spata31	C	A	13: 64,921,648	P537T	probably benign	Het
Tnrc6c	G	A	11: 117,723,326	R770H	probably damaging	Het
Toe1	A	T	4: 116,806,111	N56K	probably damaging	Het
Tprkb	A	G	6: 85,928,782	K150E	probably damaging	Het
Trps1	T	C	15: 50,831,577	K150E	probably damaging	Het
Tspyl3	A	G	2: 153,225,060	V86A	probably benign	Het
Vps18	A	G	2: 119,297,228	Y844C	probably benign	Het
Wdr60	A	C	12: 116,211,840	S906A	possibly damaging	Het
Wdr72	T	A	9: 74,157,270	I528N	probably damaging	Het
Zfp292	C	T	4: 34,806,783	C2087Y	possibly damaging	Het
Zfp933	G	A	4: 147,826,470	A223V	probably damaging	Het
Zmynd8	G	A	2: 165,812,394	R724*	probably null	Het

Other mutations in Otop3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Otop3	APN	11	115344453	missense	probably benign
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
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
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

Predicted Primers

PCR Primer
(F):5'- TGACATAGCCCGCCAGTACTTCAC -3'
(R):5'- ATGAGCTTCTGCCCAGACACTCAC -3'

Sequencing Primer
(F):5'- TGTGCTGCCCACCATGAG -3'
(R):5'- GAGCATCCTGCGTTTCCAG -3'

Posted On

2014-01-29