Mutagenetix > Incidental Mutation

Incidental Mutation 'R0402:Otop2'

35634

Institutional Source

Beutler Lab

Gene Symbol

Otop2

Ensembl Gene

ENSMUSG00000050201

Gene Name

otopetrin 2

Synonyms

MMRRC Submission

038607-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0402 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

115197989-115223129 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 115217234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102154 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055490] [ENSMUST00000103037] [ENSMUST00000106544]

AlphaFold

Q80SX5

Predicted Effect

probably benign
Transcript: ENSMUST00000055490

SMART Domains

Protein: ENSMUSP00000062109
Gene: ENSMUSG00000050201

Domain	Start	End	E-Value	Type
transmembrane domain	30	52	N/A	INTRINSIC
transmembrane domain	62	81	N/A	INTRINSIC
Pfam:Otopetrin	102	225	1e-18	PFAM
Pfam:Otopetrin	214	451	5.5e-20	PFAM
Pfam:Otopetrin	479	550	8.9e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103037

SMART Domains

Protein: ENSMUSP00000099326
Gene: ENSMUSG00000045288

Domain	Start	End	E-Value	Type
ANK	31	60	1.83e-3	SMART
ANK	64	93	8.07e-5	SMART
ANK	97	126	6.26e-2	SMART
low complexity region	159	190	N/A	INTRINSIC
PDB:3PVL\|B	295	368	3e-30	PDB
SAM	385	449	1.34e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106544

SMART Domains

Protein: ENSMUSP00000102154
Gene: ENSMUSG00000050201

Domain	Start	End	E-Value	Type
transmembrane domain	30	52	N/A	INTRINSIC
transmembrane domain	62	81	N/A	INTRINSIC
Pfam:Otopetrin	102	450	7.9e-54	PFAM
Pfam:Otopetrin	476	550	2e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131050

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139466

Coding Region Coverage

1x: 98.2%
3x: 97.0%
10x: 94.5%
20x: 88.7%

Validation Efficiency

100% (74/74)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	T	10: 100,445,115 (GRCm39)	K165N	probably damaging	Het
Adam6b	T	A	12: 113,453,615 (GRCm39)	M144K	probably damaging	Het
Arhgap44	T	C	11: 64,922,903 (GRCm39)		probably benign	Het
Arl5c	T	A	11: 97,885,939 (GRCm39)	I21F	probably damaging	Het
Bglap2	C	T	3: 88,285,552 (GRCm39)	G40D	probably damaging	Het
Bptf	T	C	11: 106,964,940 (GRCm39)	E1303G	probably damaging	Het
Calhm1	T	C	19: 47,129,896 (GRCm39)	T209A	probably damaging	Het
Ccr8	A	G	9: 119,923,976 (GRCm39)		probably null	Het
Chkb	C	T	15: 89,313,610 (GRCm39)	R65Q	probably benign	Het
Col4a1	T	C	8: 11,249,838 (GRCm39)		probably benign	Het
Cryzl2	A	G	1: 157,292,014 (GRCm39)	T98A	probably benign	Het
D430041D05Rik	T	C	2: 103,998,509 (GRCm39)	T1080A	probably damaging	Het
Dhx8	C	A	11: 101,643,223 (GRCm39)	T765N	probably damaging	Het
Dicer1	T	C	12: 104,697,323 (GRCm39)	D78G	probably benign	Het
Drd2	A	G	9: 49,316,271 (GRCm39)	I344V	probably benign	Het
Edil3	A	T	13: 89,347,570 (GRCm39)		probably benign	Het
Fbxw19	C	T	9: 109,313,493 (GRCm39)	G235D	probably benign	Het
Fzd1	T	C	5: 4,805,702 (GRCm39)	K627E	possibly damaging	Het
Garin1b	A	G	6: 29,323,901 (GRCm39)	T209A	probably benign	Het
Garin4	T	C	1: 190,896,637 (GRCm39)	D2G	probably benign	Het
Gm10638	A	G	8: 87,472,828 (GRCm39)		probably benign	Het
H6pd	G	T	4: 150,080,773 (GRCm39)	A24E	probably damaging	Het
Hectd2	G	T	19: 36,578,929 (GRCm39)		probably null	Het
Hps5	A	G	7: 46,440,333 (GRCm39)		probably benign	Het
Irx3	T	C	8: 92,527,296 (GRCm39)	N136S	possibly damaging	Het
Kcmf1	T	C	6: 72,826,568 (GRCm39)	M1V	probably null	Het
Klrb1	A	T	6: 128,687,583 (GRCm39)	F104I	probably benign	Het
Lrfn5	T	C	12: 61,886,803 (GRCm39)	M197T	probably benign	Het
Mpdz	A	C	4: 81,279,677 (GRCm39)	M51R	possibly damaging	Het
Mtbp	G	T	15: 55,432,466 (GRCm39)	E258*	probably null	Het
Mylk3	T	A	8: 86,079,539 (GRCm39)	H373L	probably damaging	Het
Myrfl	A	G	10: 116,664,882 (GRCm39)	S383P	probably damaging	Het
Nt5c	T	C	11: 115,381,468 (GRCm39)	*195W	probably null	Het
Ocstamp	A	G	2: 165,238,184 (GRCm39)	V360A	possibly damaging	Het
Or10ak16	A	T	4: 118,750,426 (GRCm39)	I49F	possibly damaging	Het
Or10al6	T	A	17: 38,083,284 (GRCm39)	C247S	probably damaging	Het
Or4k35	A	G	2: 111,100,208 (GRCm39)	F168S	probably damaging	Het
Or4p19	A	T	2: 88,242,378 (GRCm39)	V208D	probably damaging	Het
Or5an9	A	G	19: 12,186,953 (GRCm39)	T8A	probably damaging	Het
Pom121l2	A	T	13: 22,172,649 (GRCm39)		probably benign	Het
Pon2	T	A	6: 5,272,410 (GRCm39)	K137*	probably null	Het
Ppip5k2	T	A	1: 97,647,579 (GRCm39)	Q1049L	probably benign	Het
Ralgapa2	C	T	2: 146,276,729 (GRCm39)	V504M	probably damaging	Het
Rph3a	G	A	5: 121,080,317 (GRCm39)	H654Y	probably damaging	Het
Sh2d1b1	T	C	1: 170,107,342 (GRCm39)		probably benign	Het
Slc15a2	G	A	16: 36,595,960 (GRCm39)	T154I	probably benign	Het
Slc45a3	T	C	1: 131,905,265 (GRCm39)	V96A	possibly damaging	Het
Slc7a4	A	G	16: 17,393,497 (GRCm39)	S101P	probably damaging	Het
Smco2	T	C	6: 146,772,633 (GRCm39)		probably benign	Het
Spata2	A	T	2: 167,325,580 (GRCm39)	V413E	probably benign	Het
Specc1l	A	G	10: 75,082,260 (GRCm39)	E552G	probably damaging	Het
Sstr5	C	T	17: 25,711,008 (GRCm39)	V74M	probably benign	Het
Timm50	G	A	7: 28,006,280 (GRCm39)	R274W	probably damaging	Het
Tll2	A	G	19: 41,087,132 (GRCm39)	V573A	possibly damaging	Het
Tm7sf3	C	A	6: 146,507,685 (GRCm39)	R459M	possibly damaging	Het
Txk	A	G	5: 72,889,105 (GRCm39)		probably null	Het
Uroc1	A	G	6: 90,324,284 (GRCm39)	D436G	probably damaging	Het
Vmn1r13	T	A	6: 57,187,083 (GRCm39)	Y81N	possibly damaging	Het
Vmn2r19	A	G	6: 123,313,141 (GRCm39)	E737G	probably damaging	Het
Wfs1	A	G	5: 37,134,324 (GRCm39)		probably benign	Het
Zfp1	G	A	8: 112,396,875 (GRCm39)	E285K	probably damaging	Het
Zfp1005	T	A	2: 150,111,136 (GRCm39)	C609S	possibly damaging	Het
Zfp661	G	A	2: 127,419,640 (GRCm39)	Q167*	probably null	Het
Zswim8	T	C	14: 20,760,834 (GRCm39)	F36S	probably damaging	Het
Zw10	A	G	9: 48,980,023 (GRCm39)	T385A	probably benign	Het

Other mutations in Otop2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00671:Otop2	APN	11	115,222,735 (GRCm39)	missense	probably damaging	1.00
IGL01832:Otop2	APN	11	115,217,769 (GRCm39)	missense	probably benign
IGL02114:Otop2	APN	11	115,217,806 (GRCm39)	missense	possibly damaging	0.64
IGL02432:Otop2	APN	11	115,219,988 (GRCm39)	missense	probably damaging	0.99
IGL02453:Otop2	APN	11	115,215,455 (GRCm39)	nonsense	probably null
IGL02986:Otop2	APN	11	115,220,393 (GRCm39)	missense	probably benign	0.11
IGL03225:Otop2	APN	11	115,220,633 (GRCm39)	missense	probably damaging	1.00
R0553:Otop2	UTSW	11	115,220,288 (GRCm39)	missense	probably damaging	0.98
R1209:Otop2	UTSW	11	115,215,469 (GRCm39)	missense	possibly damaging	0.70
R1497:Otop2	UTSW	11	115,220,675 (GRCm39)	splice site	probably null
R1765:Otop2	UTSW	11	115,215,504 (GRCm39)	missense	probably benign	0.04
R1822:Otop2	UTSW	11	115,215,454 (GRCm39)	missense	probably benign	0.41
R1926:Otop2	UTSW	11	115,217,781 (GRCm39)	missense	probably benign	0.00
R2151:Otop2	UTSW	11	115,220,237 (GRCm39)	missense	possibly damaging	0.90
R2192:Otop2	UTSW	11	115,217,757 (GRCm39)	missense	possibly damaging	0.63
R2350:Otop2	UTSW	11	115,217,676 (GRCm39)	missense	probably damaging	0.97
R2352:Otop2	UTSW	11	115,219,927 (GRCm39)	missense	probably damaging	1.00
R2915:Otop2	UTSW	11	115,219,972 (GRCm39)	missense	probably benign	0.07
R3614:Otop2	UTSW	11	115,219,972 (GRCm39)	missense	probably benign	0.07
R4060:Otop2	UTSW	11	115,220,201 (GRCm39)	missense	probably damaging	1.00
R4061:Otop2	UTSW	11	115,220,201 (GRCm39)	missense	probably damaging	1.00
R4062:Otop2	UTSW	11	115,220,201 (GRCm39)	missense	probably damaging	1.00
R4063:Otop2	UTSW	11	115,220,201 (GRCm39)	missense	probably damaging	1.00
R4064:Otop2	UTSW	11	115,220,201 (GRCm39)	missense	probably damaging	1.00
R4184:Otop2	UTSW	11	115,220,671 (GRCm39)	missense	probably benign	0.05
R4844:Otop2	UTSW	11	115,214,201 (GRCm39)	splice site	probably null
R5681:Otop2	UTSW	11	115,217,685 (GRCm39)	missense	probably damaging	1.00
R5713:Otop2	UTSW	11	115,219,870 (GRCm39)	missense	probably damaging	0.98
R6738:Otop2	UTSW	11	115,220,318 (GRCm39)	missense	probably damaging	1.00
R6975:Otop2	UTSW	11	115,220,152 (GRCm39)	missense	possibly damaging	0.93
R8866:Otop2	UTSW	11	115,220,354 (GRCm39)	missense	probably benign
R9017:Otop2	UTSW	11	115,214,431 (GRCm39)	missense	probably benign	0.11
R9062:Otop2	UTSW	11	115,214,465 (GRCm39)	missense	probably benign	0.06
R9205:Otop2	UTSW	11	115,219,912 (GRCm39)	missense	probably damaging	1.00
R9524:Otop2	UTSW	11	115,214,503 (GRCm39)	missense	probably benign	0.00
RF013:Otop2	UTSW	11	115,214,492 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- AGGCTGACCTTGTTCCCCAAAATAC -3'
(R):5'- CCCTTCAGTCAGTGGAAAGCAAGAG -3'

Sequencing Primer
(F):5'- aattcaaatcccagcaaccac -3'
(R):5'- TGGAAAGCAAGAGGGCAG -3'

Posted On

2013-05-09