Mutagenetix > Incidental Mutation

Incidental Mutation 'R2915:Otop2'

254858

Institutional Source

Beutler Lab

Gene Symbol

Otop2

Ensembl Gene

ENSMUSG00000050201

Gene Name

otopetrin 2

Synonyms

MMRRC Submission

040502-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2915 (G1)

Quality Score

218

Status

Validated

Chromosome

Chromosomal Location

115197989-115223129 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 115219972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 271 (A271T)

Ref Sequence

ENSEMBL: ENSMUSP00000102154 (fasta)

Gene Model

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

AlphaFold

Q80SX5

Predicted Effect

probably benign
Transcript: ENSMUST00000055490
AA Change: A271T

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000062109
Gene: ENSMUSG00000050201
AA Change: A271T

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: ENSMUST00000106544
AA Change: A271T

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000102154
Gene: ENSMUSG00000050201
AA Change: A271T

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

Meta Mutation Damage Score

0.2030

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Arhgap11a	A	G	2: 113,663,853 (GRCm39)	V810A	probably damaging	Het
B3gnt6	T	C	7: 97,842,800 (GRCm39)	N387D	probably benign	Het
Col5a2	C	G	1: 45,452,656 (GRCm39)	G358R	probably damaging	Het
Cracr2a	A	G	6: 127,588,468 (GRCm39)	K209R	probably damaging	Het
Dmkn	A	G	7: 30,464,741 (GRCm39)	N32S	unknown	Het
Dusp13b	T	A	14: 21,790,205 (GRCm39)	N47I	probably damaging	Het
Elmo2	A	G	2: 165,139,573 (GRCm39)		probably benign	Het
Ephb6	T	C	6: 41,591,172 (GRCm39)	F110L	probably damaging	Het
Gabrb2	T	A	11: 42,482,734 (GRCm39)	N197K	probably benign	Het
Gdnf	T	A	15: 7,845,130 (GRCm39)	V41E	possibly damaging	Het
Gm21915	A	G	9: 40,582,083 (GRCm39)	I59V	possibly damaging	Het
Gprin2	C	T	14: 33,917,038 (GRCm39)	G244D	possibly damaging	Het
Grin2d	T	C	7: 45,482,781 (GRCm39)		probably benign	Het
Ice2	A	G	9: 69,318,122 (GRCm39)	D241G	probably benign	Het
Mios	C	T	6: 8,214,935 (GRCm39)	R44C	possibly damaging	Het
Nlrp5-ps	T	C	7: 14,320,636 (GRCm39)		noncoding transcript	Het
Nyap2	C	T	1: 81,065,188 (GRCm39)	R67*	probably null	Het
Or4d6	G	A	19: 12,085,989 (GRCm39)	P81L	probably benign	Het
Or4f14	G	T	2: 111,743,064 (GRCm39)	D70E	probably damaging	Het
Or5m8	T	A	2: 85,822,389 (GRCm39)	V76E	probably damaging	Het
Or5t9	T	C	2: 86,659,570 (GRCm39)	I158T	probably benign	Het
Or8g19	G	T	9: 39,055,762 (GRCm39)	R122L	possibly damaging	Het
Otulin	A	G	15: 27,619,716 (GRCm39)		probably benign	Het
Pax1	A	G	2: 147,210,348 (GRCm39)	Y361C	probably damaging	Het
Pcdhb12	A	T	18: 37,570,693 (GRCm39)	N613I	probably damaging	Het
Plekha5	A	G	6: 140,534,925 (GRCm39)	K173E	probably damaging	Het
Plin4	T	A	17: 56,411,389 (GRCm39)	T881S	probably damaging	Het
Poli	A	G	18: 70,655,771 (GRCm39)		probably null	Het
Prex2	T	A	1: 11,240,077 (GRCm39)	F898I	probably damaging	Het
Prr14l	A	T	5: 32,987,112 (GRCm39)	H794Q	probably benign	Het
Prss1	A	T	6: 41,439,545 (GRCm39)	I93F	probably benign	Het
Ptpro	C	T	6: 137,391,239 (GRCm39)		probably benign	Het
Rad1	T	C	15: 10,486,728 (GRCm39)	C42R	probably damaging	Het
Rnf20	A	G	4: 49,638,769 (GRCm39)	E197G	probably benign	Het
Setx	A	G	2: 29,062,336 (GRCm39)	E2260G	probably damaging	Het
Sgk1	C	T	10: 21,872,500 (GRCm39)	R171W	probably damaging	Het
Six2	A	G	17: 85,992,616 (GRCm39)	S296P	probably damaging	Het
Smg1	T	A	7: 117,810,102 (GRCm39)		probably benign	Het
Spred2	T	C	11: 19,948,215 (GRCm39)	V41A	probably damaging	Het
Ssu2	A	T	6: 112,354,566 (GRCm39)	C219*	probably null	Het
Tbc1d9b	T	A	11: 50,040,563 (GRCm39)	V360D	possibly damaging	Het
Tdrd9	G	A	12: 112,006,895 (GRCm39)	D920N	probably damaging	Het
Tyrp1	A	G	4: 80,755,692 (GRCm39)	T154A	possibly damaging	Het
Vrk3	C	T	7: 44,424,866 (GRCm39)	T427M	probably benign	Het
Wac	A	C	18: 7,926,131 (GRCm39)	M596L	possibly damaging	Het
Zfhx2	G	T	14: 55,302,014 (GRCm39)	P1990Q	probably damaging	Het
Zfp853	T	C	5: 143,275,332 (GRCm39)	E96G	unknown	Het
Zzef1	G	A	11: 72,801,152 (GRCm39)		probably null	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
R0402:Otop2	UTSW	11	115,217,234 (GRCm39)	splice site	probably benign
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
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'- TTTGGGCTGGCAGAAAGAACC -3'
(R):5'- TAGTAGATGACCAGGGCCTGTC -3'

Sequencing Primer
(F):5'- CTGGCAGAAAGAACCCCTGG -3'
(R):5'- TCGGGTGTGGCCTCTCTC -3'

Posted On

2014-12-29