Mutagenetix > Incidental Mutation

Incidental Mutation 'R3614:Otop2'

268377

Institutional Source

Beutler Lab

Gene Symbol

Otop2

Ensembl Gene

ENSMUSG00000050201

Gene Name

otopetrin 2

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3614 (G1)

Quality Score

192

Status

Not 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: 97.3%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	A	G	1: 165,403,296 (GRCm39)	Y1598C	probably benign	Het
Asic4	A	G	1: 75,449,702 (GRCm39)	D444G	probably damaging	Het
Cd3g	A	G	9: 44,891,587 (GRCm39)	F11S	probably benign	Het
Dsp	A	G	13: 38,361,175 (GRCm39)	T365A	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Golga3	C	A	5: 110,368,774 (GRCm39)	Q1365K	probably damaging	Het
Lama3	T	A	18: 12,581,345 (GRCm39)	H601Q	probably benign	Het
Lmbrd2	A	G	15: 9,177,798 (GRCm39)	D499G	probably damaging	Het
Or2aj6	A	G	16: 19,443,515 (GRCm39)	C112R	probably damaging	Het
Pigp	T	C	16: 94,165,583 (GRCm39)	D113G	possibly damaging	Het
Prex1	G	A	2: 166,451,701 (GRCm39)	R256C	probably damaging	Het
Stxbp2	T	A	8: 3,681,196 (GRCm39)	V10E	possibly damaging	Het
Vmn1r67	T	C	7: 10,181,356 (GRCm39)	Y207H	probably damaging	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
R2915: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'- TTTGGGCTGGCAGAAAGAAC -3'
(R):5'- TGTAGTAGATGACCAGGGCC -3'

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

Posted On

2015-02-19