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

Is this an essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R5582 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115334731-115346927 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115339339 bp (GRCm38)

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: 9,636,639		probably null	Het
Agxt2	A	G	15: 10,399,159	D444G	probably damaging	Het
Aldh1b1	G	T	4: 45,802,750	R96L	probably damaging	Het
Ank2	T	C	3: 126,946,305		probably benign	Het
Apob	A	G	12: 8,010,788	Y3090C	probably damaging	Het
Bbx	A	G	16: 50,223,356	S647P	probably damaging	Het
Brinp2	T	C	1: 158,249,409	Y372C	probably damaging	Het
Btaf1	T	C	19: 36,988,173		probably null	Het
Cdk5rap1	T	A	2: 154,345,974	E477D	probably benign	Het
Cfap65	G	A	1: 74,907,518		probably benign	Het
Chdh	A	G	14: 30,036,859	Y587C	probably damaging	Het
Chek2	T	C	5: 110,868,035	V472A	probably damaging	Het
Clasrp	A	C	7: 19,586,856	I326S	probably damaging	Het
Clic6	A	T	16: 92,499,454	Q334L	possibly damaging	Het
Cyp2d11	A	T	15: 82,392,118		probably null	Het
Entpd7	T	C	19: 43,704,994	I171T	probably damaging	Het
Fosl1	T	C	19: 5,455,267		probably benign	Het
Gm10130	T	C	2: 150,363,052		probably benign	Het
Gm6124	A	G	7: 39,220,198		noncoding transcript	Het
H3f3a	A	T	1: 180,810,085		probably benign	Het
Hs1bp3	AGAGGAGGAGGAGGAGGAGGAGGAGGAGG	AGAGGAGGAGGAGGAGGAGGAGGAGG	12: 8,324,048		probably benign	Het
Idh2	CCAGGGC	CC	7: 80,098,339		probably null	Het
Igkv3-7	A	G	6: 70,608,006	Y110C	probably damaging	Het
Ints9	C	T	14: 65,028,896	T399M	possibly damaging	Het
Kctd19	G	A	8: 105,408,443	T62M	probably damaging	Het
Lsmem1	A	G	12: 40,180,644		probably null	Het
Obscn	T	C	11: 59,099,976		probably null	Het
Olfr340	T	C	2: 36,453,221	I212T	probably benign	Het
Olfr748	T	C	14: 50,710,968	Y213H	probably damaging	Het
Pibf1	C	T	14: 99,137,130	A335V	possibly damaging	Het
Pkd1l2	A	T	8: 117,040,783	L1256*	probably null	Het
Plbd2	T	C	5: 120,493,106	E202G	probably benign	Het
Ppp1r37	A	G	7: 19,532,294	S516P	probably damaging	Het
Ppt2	G	A	17: 34,617,399	T229M	probably damaging	Het
Prr14	A	T	7: 127,476,397	I526F	probably damaging	Het
Scel	T	C	14: 103,583,139		probably benign	Het
Scn9a	A	T	2: 66,565,029		probably benign	Het
Senp6	T	A	9: 80,089,876	D57E	possibly damaging	Het
Setd5	T	C	6: 113,114,925	Y217H	probably damaging	Het
Sgcg	T	C	14: 61,225,305	T198A	probably damaging	Het
Sipa1	C	T	19: 5,654,701	G622D	probably benign	Het
Slc27a2	C	T	2: 126,564,690	A98V	probably damaging	Het
Slitrk3	G	T	3: 73,050,404	P345Q	probably benign	Het
Slx4	T	C	16: 3,985,788	D1054G	possibly damaging	Het
Sned1	A	T	1: 93,282,361	T898S	probably damaging	Het
Tg	C	T	15: 66,693,435	P1209S	probably damaging	Het
Tmem63b	C	A	17: 45,667,763	V294L	probably benign	Het
Tnks	G	A	8: 34,940,861	R238C	probably benign	Het
Tsn	G	A	1: 118,305,214	T120I	probably damaging	Het
Txnrd1	T	A	10: 82,895,980	F479I	possibly damaging	Het
Ubr1	T	C	2: 120,915,407	M849V	probably benign	Het
Usp13	T	C	3: 32,911,589	S574P	probably damaging	Het
Vmn1r69	A	G	7: 10,580,508	Y20H	probably damaging	Het
Zfp780b	T	A	7: 27,964,827	N101I	probably damaging	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
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

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