Mutagenetix > Incidental Mutation

Incidental Mutation 'R3969:Vmn2r94'

310895

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r94

Ensembl Gene

ENSMUSG00000090417

Gene Name

vomeronasal 2, receptor 94

Synonyms

EG665227

MMRRC Submission

040937-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R3969 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18461384-18498018 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 18478647 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 33 (Q33H)

Ref Sequence

ENSEMBL: ENSMUSP00000156288 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000172190] [ENSMUST00000231457] [ENSMUST00000231815]

AlphaFold

E9PZK8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172190
AA Change: Q33H

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126386
Gene: ENSMUSG00000090417
AA Change: Q33H

Domain	Start	End	E-Value	Type
Pfam:ANF_receptor	42	425	1.7e-35	PFAM
Pfam:NCD3G	469	522	3.5e-21	PFAM
Pfam:7tm_3	553	790	1.7e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000231457

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231815
AA Change: Q33H

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.1%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahi1	A	G	10: 20,835,846 (GRCm39)	K60E	probably damaging	Het
Arhgef12	C	A	9: 42,916,847 (GRCm39)	R432L	probably damaging	Het
Armcx6	G	T	X: 133,650,505 (GRCm39)	H109N	possibly damaging	Het
Camk2d	G	T	3: 126,590,608 (GRCm39)	C273F	possibly damaging	Het
Camk4	T	A	18: 33,312,634 (GRCm39)	I258N	possibly damaging	Het
Chia1	T	G	3: 106,028,951 (GRCm39)		probably null	Het
Commd9	C	A	2: 101,727,486 (GRCm39)	N93K	probably benign	Het
Cpeb4	T	C	11: 31,822,811 (GRCm39)	I175T	possibly damaging	Het
Dnah17	G	A	11: 117,931,984 (GRCm39)		probably benign	Het
E2f1	C	G	2: 154,405,942 (GRCm39)	G144R	probably damaging	Het
Faap100	A	T	11: 120,269,531 (GRCm39)	M1K	probably null	Het
Flna	A	T	X: 73,279,273 (GRCm39)	V1253E	probably damaging	Het
Fryl	A	T	5: 73,269,766 (GRCm39)	S396R	probably damaging	Het
Gm12185	A	T	11: 48,798,172 (GRCm39)	C774S	probably benign	Het
Habp2	A	G	19: 56,300,133 (GRCm39)	Y194C	probably damaging	Het
Insyn2b	A	T	11: 34,369,739 (GRCm39)	Q481L	probably damaging	Het
Irf5	A	T	6: 29,536,781 (GRCm39)	Q497H	probably benign	Het
Lama3	A	T	18: 12,713,398 (GRCm39)	K3230M	probably damaging	Het
Lins1	C	T	7: 66,357,946 (GRCm39)	T27I	probably benign	Het
Ncstn	A	C	1: 171,897,576 (GRCm39)	V439G	probably damaging	Het
Nlrx1	A	T	9: 44,166,722 (GRCm39)		probably benign	Het
Nol8	A	T	13: 49,813,492 (GRCm39)	K162*	probably null	Het
Or7g21	A	G	9: 19,032,956 (GRCm39)	E232G	probably benign	Het
Or8b54	A	G	9: 38,686,664 (GRCm39)	T38A	probably benign	Het
Pabpc5	A	G	X: 118,838,321 (GRCm39)	E212G	probably benign	Het
Pecr	G	A	1: 72,315,468 (GRCm39)	T94I	probably damaging	Het
Piezo2	A	T	18: 63,144,767 (GRCm39)	V2776E	probably damaging	Het
Pik3r2	G	A	8: 71,223,065 (GRCm39)	R452C	probably benign	Het
Pole3	G	T	4: 62,443,198 (GRCm39)	N12K	possibly damaging	Het
Prl2a1	A	G	13: 27,990,263 (GRCm39)	S71G	probably benign	Het
Rab39	G	A	9: 53,597,932 (GRCm39)	A111V	possibly damaging	Het
Rb1cc1	T	A	1: 6,318,494 (GRCm39)		probably benign	Het
Shroom3	T	C	5: 93,088,738 (GRCm39)	V496A	probably benign	Het
Slc26a1	A	G	5: 108,821,818 (GRCm39)	S24P	probably benign	Het
Tspoap1	A	T	11: 87,653,272 (GRCm39)	N113Y	probably damaging	Het
Usp17lc	A	T	7: 103,067,626 (GRCm39)	H307L	probably damaging	Het
Vmn2r79	T	C	7: 86,652,801 (GRCm39)	W498R	probably damaging	Het
Wwc2	T	C	8: 48,309,358 (GRCm39)	D808G	unknown	Het
Ybx2	G	A	11: 69,831,242 (GRCm39)	R84Q	probably damaging	Het
Zfp462	C	T	4: 55,012,402 (GRCm39)	S308F	probably damaging	Het

Other mutations in Vmn2r94

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01396:Vmn2r94	APN	17	18,477,301 (GRCm39)	missense	probably damaging	1.00
IGL01676:Vmn2r94	APN	17	18,477,272 (GRCm39)	missense	probably benign
IGL01687:Vmn2r94	APN	17	18,473,574 (GRCm39)	missense	possibly damaging	0.64
IGL02113:Vmn2r94	APN	17	18,477,937 (GRCm39)	missense	probably damaging	0.99
IGL02408:Vmn2r94	APN	17	18,473,523 (GRCm39)	missense	probably benign	0.01
IGL02451:Vmn2r94	APN	17	18,478,453 (GRCm39)	missense	possibly damaging	0.95
IGL02755:Vmn2r94	APN	17	18,464,761 (GRCm39)	missense	probably benign	0.01
IGL02822:Vmn2r94	APN	17	18,463,882 (GRCm39)	missense	probably benign	0.00
IGL02868:Vmn2r94	APN	17	18,464,316 (GRCm39)	missense	possibly damaging	0.75
IGL03008:Vmn2r94	APN	17	18,477,908 (GRCm39)	missense	probably benign	0.05
R0112:Vmn2r94	UTSW	17	18,463,866 (GRCm39)	missense	probably benign
R0371:Vmn2r94	UTSW	17	18,477,556 (GRCm39)	missense	probably benign	0.11
R0413:Vmn2r94	UTSW	17	18,464,080 (GRCm39)	missense	probably damaging	0.98
R0627:Vmn2r94	UTSW	17	18,477,427 (GRCm39)	missense	probably damaging	1.00
R0737:Vmn2r94	UTSW	17	18,497,695 (GRCm39)	nonsense	probably null
R0815:Vmn2r94	UTSW	17	18,477,973 (GRCm39)	missense	probably damaging	1.00
R0863:Vmn2r94	UTSW	17	18,477,973 (GRCm39)	missense	probably damaging	1.00
R1125:Vmn2r94	UTSW	17	18,477,717 (GRCm39)	missense	probably damaging	1.00
R1276:Vmn2r94	UTSW	17	18,477,344 (GRCm39)	missense	possibly damaging	0.47
R1491:Vmn2r94	UTSW	17	18,477,965 (GRCm39)	missense	probably damaging	1.00
R1500:Vmn2r94	UTSW	17	18,477,242 (GRCm39)	missense	probably benign	0.07
R1610:Vmn2r94	UTSW	17	18,463,995 (GRCm39)	missense	probably damaging	1.00
R1664:Vmn2r94	UTSW	17	18,464,406 (GRCm39)	missense	probably damaging	0.99
R1716:Vmn2r94	UTSW	17	18,477,635 (GRCm39)	missense	probably benign	0.01
R1843:Vmn2r94	UTSW	17	18,464,732 (GRCm39)	missense	probably benign	0.01
R1882:Vmn2r94	UTSW	17	18,464,476 (GRCm39)	missense	probably benign	0.07
R1936:Vmn2r94	UTSW	17	18,464,554 (GRCm39)	nonsense	probably null
R2273:Vmn2r94	UTSW	17	18,477,593 (GRCm39)	missense	probably benign	0.00
R2508:Vmn2r94	UTSW	17	18,477,736 (GRCm39)	missense	probably benign	0.32
R3436:Vmn2r94	UTSW	17	18,478,650 (GRCm39)	splice site	probably benign
R3917:Vmn2r94	UTSW	17	18,464,620 (GRCm39)	missense	probably benign
R3968:Vmn2r94	UTSW	17	18,478,647 (GRCm39)	missense	possibly damaging	0.95
R4257:Vmn2r94	UTSW	17	18,464,433 (GRCm39)	missense	probably damaging	1.00
R4271:Vmn2r94	UTSW	17	18,463,940 (GRCm39)	missense	probably damaging	1.00
R4349:Vmn2r94	UTSW	17	18,464,605 (GRCm39)	missense	probably benign	0.01
R4436:Vmn2r94	UTSW	17	18,478,645 (GRCm39)	missense	probably damaging	1.00
R4603:Vmn2r94	UTSW	17	18,477,647 (GRCm39)	missense	probably benign	0.33
R4821:Vmn2r94	UTSW	17	18,477,293 (GRCm39)	missense	probably benign	0.02
R5288:Vmn2r94	UTSW	17	18,464,728 (GRCm39)	missense	probably damaging	1.00
R5725:Vmn2r94	UTSW	17	18,476,489 (GRCm39)	missense	possibly damaging	0.88
R5735:Vmn2r94	UTSW	17	18,464,066 (GRCm39)	missense	probably damaging	1.00
R6066:Vmn2r94	UTSW	17	18,477,695 (GRCm39)	missense	probably damaging	0.99
R6124:Vmn2r94	UTSW	17	18,464,321 (GRCm39)	missense	probably benign	0.01
R6189:Vmn2r94	UTSW	17	18,477,996 (GRCm39)	missense	probably benign	0.25
R6245:Vmn2r94	UTSW	17	18,478,385 (GRCm39)	missense	probably damaging	1.00
R6574:Vmn2r94	UTSW	17	18,476,421 (GRCm39)	missense	probably damaging	1.00
R7236:Vmn2r94	UTSW	17	18,477,811 (GRCm39)	missense	possibly damaging	0.49
R7317:Vmn2r94	UTSW	17	18,463,882 (GRCm39)	missense	probably benign	0.00
R7398:Vmn2r94	UTSW	17	18,477,603 (GRCm39)	missense	probably benign	0.00
R7399:Vmn2r94	UTSW	17	18,464,765 (GRCm39)	critical splice acceptor site	probably null
R7478:Vmn2r94	UTSW	17	18,477,767 (GRCm39)	missense	probably benign
R8099:Vmn2r94	UTSW	17	18,477,659 (GRCm39)	missense	probably benign	0.00
R8189:Vmn2r94	UTSW	17	18,478,618 (GRCm39)	missense	probably damaging	1.00
R8217:Vmn2r94	UTSW	17	18,463,986 (GRCm39)	missense	probably damaging	1.00
R8303:Vmn2r94	UTSW	17	18,464,433 (GRCm39)	missense	probably damaging	1.00
R8543:Vmn2r94	UTSW	17	18,463,984 (GRCm39)	missense	possibly damaging	0.45
R8684:Vmn2r94	UTSW	17	18,497,912 (GRCm39)	start gained	probably benign
R8889:Vmn2r94	UTSW	17	18,464,335 (GRCm39)	missense	possibly damaging	0.83
R8892:Vmn2r94	UTSW	17	18,464,335 (GRCm39)	missense	possibly damaging	0.83
R9282:Vmn2r94	UTSW	17	18,497,751 (GRCm39)	missense	possibly damaging	0.89
R9526:Vmn2r94	UTSW	17	18,477,261 (GRCm39)	missense	probably benign
R9647:Vmn2r94	UTSW	17	18,463,884 (GRCm39)	missense	probably benign	0.00
R9748:Vmn2r94	UTSW	17	18,463,989 (GRCm39)	missense	probably benign	0.21
R9789:Vmn2r94	UTSW	17	18,464,038 (GRCm39)	missense	probably damaging	1.00
RF014:Vmn2r94	UTSW	17	18,473,549 (GRCm39)	nonsense	probably null
X0011:Vmn2r94	UTSW	17	18,464,710 (GRCm39)	missense	possibly damaging	0.76
X0028:Vmn2r94	UTSW	17	18,464,237 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTCTCTACATGGGCTGTGAG -3'
(R):5'- GTAGACAGAATGTGTAAAGAATCCACC -3'

Sequencing Primer
(F):5'- CTGTGAGCCAAAGAAAAGTAAACAC -3'
(R):5'- CTAGTTCATCTATTCATGGTGA -3'

Posted On

2015-04-29