Mutagenetix > Incidental Mutation

Incidental Mutation 'R5582:Otop3'

438516

Institutional Source

Beutler Lab

Gene Symbol

Otop3

Ensembl Gene

ENSMUSG00000018862

Gene Name

otopetrin 3

Synonyms

2310011E08Rik

MMRRC Submission

043136-MU

Accession Numbers

Essential gene?

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

Stock #

R5582 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115225557-115237753 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115230165 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 14 (M14K)

Ref Sequence

ENSEMBL: ENSMUSP00000102153 (fasta)

Gene Model

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

AlphaFold

Q80UF9

Predicted Effect

unknown
Transcript: ENSMUST00000019006
AA Change: M14K

SMART Domains

Protein: ENSMUSP00000019006
Gene: ENSMUSG00000018862
AA Change: M14K

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

unknown
Transcript: ENSMUST00000106543
AA Change: M14K

SMART Domains

Protein: ENSMUSP00000102153
Gene: ENSMUSG00000018862
AA Change: M14K

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

Meta Mutation Damage Score

0.0907

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.6%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	C	11: 9,586,639 (GRCm39)		probably null	Het
Agxt2	A	G	15: 10,399,245 (GRCm39)	D444G	probably damaging	Het
Aldh1b1	G	T	4: 45,802,750 (GRCm39)	R96L	probably damaging	Het
Ank2	T	C	3: 126,739,954 (GRCm39)		probably benign	Het
Apob	A	G	12: 8,060,788 (GRCm39)	Y3090C	probably damaging	Het
Bbx	A	G	16: 50,043,719 (GRCm39)	S647P	probably damaging	Het
Brinp2	T	C	1: 158,076,979 (GRCm39)	Y372C	probably damaging	Het
Btaf1	T	C	19: 36,965,573 (GRCm39)		probably null	Het
Cdk5rap1	T	A	2: 154,187,894 (GRCm39)	E477D	probably benign	Het
Cfap65	G	A	1: 74,946,677 (GRCm39)		probably benign	Het
Chdh	A	G	14: 29,758,816 (GRCm39)	Y587C	probably damaging	Het
Chek2	T	C	5: 111,015,901 (GRCm39)	V472A	probably damaging	Het
Clasrp	A	C	7: 19,320,781 (GRCm39)	I326S	probably damaging	Het
Clic6	A	T	16: 92,296,342 (GRCm39)	Q334L	possibly damaging	Het
Cyp2d11	A	T	15: 82,276,319 (GRCm39)		probably null	Het
Entpd7	T	C	19: 43,693,433 (GRCm39)	I171T	probably damaging	Het
Fosl1	T	C	19: 5,505,295 (GRCm39)		probably benign	Het
Gm6124	A	G	7: 38,869,622 (GRCm39)		noncoding transcript	Het
H3f3a	A	T	1: 180,637,650 (GRCm39)		probably benign	Het
Hs1bp3	AGAGGAGGAGGAGGAGGAGGAGGAGGAGG	AGAGGAGGAGGAGGAGGAGGAGGAGG	12: 8,374,048 (GRCm39)		probably benign	Het
Idh2	CCAGGGC	CC	7: 79,748,087 (GRCm39)		probably null	Het
Igkv3-7	A	G	6: 70,584,990 (GRCm39)	Y110C	probably damaging	Het
Ints9	C	T	14: 65,266,345 (GRCm39)	T399M	possibly damaging	Het
Kctd19	G	A	8: 106,135,075 (GRCm39)	T62M	probably damaging	Het
Lsmem1	A	G	12: 40,230,643 (GRCm39)		probably null	Het
Obscn	T	C	11: 58,990,802 (GRCm39)		probably null	Het
Or11h23	T	C	14: 50,948,425 (GRCm39)	Y213H	probably damaging	Het
Or1j12	T	C	2: 36,343,233 (GRCm39)	I212T	probably benign	Het
Pibf1	C	T	14: 99,374,566 (GRCm39)	A335V	possibly damaging	Het
Pkd1l2	A	T	8: 117,767,522 (GRCm39)	L1256*	probably null	Het
Plbd2	T	C	5: 120,631,171 (GRCm39)	E202G	probably benign	Het
Ppp1r37	A	G	7: 19,266,219 (GRCm39)	S516P	probably damaging	Het
Ppt2	G	A	17: 34,836,373 (GRCm39)	T229M	probably damaging	Het
Prr14	A	T	7: 127,075,569 (GRCm39)	I526F	probably damaging	Het
Scel	T	C	14: 103,820,575 (GRCm39)		probably benign	Het
Scn9a	A	T	2: 66,395,373 (GRCm39)		probably benign	Het
Senp6	T	A	9: 79,997,158 (GRCm39)	D57E	possibly damaging	Het
Setd5	T	C	6: 113,091,886 (GRCm39)	Y217H	probably damaging	Het
Sgcg	T	C	14: 61,462,754 (GRCm39)	T198A	probably damaging	Het
Sipa1	C	T	19: 5,704,729 (GRCm39)	G622D	probably benign	Het
Slc27a2	C	T	2: 126,406,610 (GRCm39)	A98V	probably damaging	Het
Slitrk3	G	T	3: 72,957,737 (GRCm39)	P345Q	probably benign	Het
Slx4	T	C	16: 3,803,652 (GRCm39)	D1054G	possibly damaging	Het
Sned1	A	T	1: 93,210,083 (GRCm39)	T898S	probably damaging	Het
Tg	C	T	15: 66,565,284 (GRCm39)	P1209S	probably damaging	Het
Tmem63b	C	A	17: 45,978,689 (GRCm39)	V294L	probably benign	Het
Tnks	G	A	8: 35,408,015 (GRCm39)	R238C	probably benign	Het
Tsn	G	A	1: 118,232,944 (GRCm39)	T120I	probably damaging	Het
Txnrd1	T	A	10: 82,731,814 (GRCm39)	F479I	possibly damaging	Het
Ubr1	T	C	2: 120,745,888 (GRCm39)	M849V	probably benign	Het
Usp13	T	C	3: 32,965,738 (GRCm39)	S574P	probably damaging	Het
Vmn1r69	A	G	7: 10,314,435 (GRCm39)	Y20H	probably damaging	Het
Zfp1001	T	C	2: 150,204,972 (GRCm39)		probably benign	Het
Zfp780b	T	A	7: 27,664,252 (GRCm39)	N101I	probably damaging	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
IGL01960:Otop3	APN	11	115,231,795 (GRCm39)	missense	probably damaging	0.97
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
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

Predicted Primers

PCR Primer
(F):5'- ATCCTTTGTGTTCATGGGCAGC -3'
(R):5'- ACCACATTGAGAGCCAGGAG -3'

Sequencing Primer
(F):5'- CAGCAGGAGGGACTTTTGTATATC -3'
(R):5'- AGCCCGGAGAAGAGCTGC -3'

Posted On

2016-10-26