Mutagenetix > Incidental Mutation

Incidental Mutation 'R1125:Vmn2r94'

96094

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r94

Ensembl Gene

ENSMUSG00000090417

Gene Name

vomeronasal 2, receptor 94

Synonyms

EG665227

MMRRC Submission

039198-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R1125 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18461384-18498018 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18477717 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 231 (I231M)

Ref Sequence

ENSEMBL: ENSMUSP00000156288 (fasta)

Gene Model

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

AlphaFold

E9PZK8

Predicted Effect

probably damaging
Transcript: ENSMUST00000172190
AA Change: I231M

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126386
Gene: ENSMUSG00000090417
AA Change: I231M

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

probably damaging
Transcript: ENSMUST00000231815
AA Change: I231M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	T	C	19: 31,898,378 (GRCm39)	I254T	probably benign	Het
Abcb5	T	C	12: 118,875,282 (GRCm39)	D630G	possibly damaging	Het
Anks4b	T	G	7: 119,781,580 (GRCm39)	F204V	possibly damaging	Het
Bltp3a	T	C	17: 28,112,423 (GRCm39)	V1204A	probably damaging	Het
C87436	T	C	6: 86,424,344 (GRCm39)	V282A	probably benign	Het
Cav3	T	A	6: 112,449,257 (GRCm39)	F92I	probably damaging	Het
Cbs	A	T	17: 31,851,805 (GRCm39)	V66E	probably benign	Het
Cd226	A	G	18: 89,286,046 (GRCm39)	I172V	probably benign	Het
Cimip2b	A	G	4: 43,427,550 (GRCm39)	I258T	probably damaging	Het
Ctns	C	A	11: 73,078,663 (GRCm39)		probably null	Het
Gid4	A	G	11: 60,315,607 (GRCm39)	D66G	possibly damaging	Het
Glra3	A	G	8: 56,492,789 (GRCm39)	D163G	possibly damaging	Het
Lrrc23	A	G	6: 124,753,145 (GRCm39)	V167A	probably benign	Het
Nbea	A	T	3: 55,764,427 (GRCm39)	L1979*	probably null	Het
Nckap1	C	T	2: 80,348,286 (GRCm39)	S889N	probably benign	Het
Necab1	T	A	4: 15,111,257 (GRCm39)	D57V	probably damaging	Het
Or2ag12	T	A	7: 106,277,214 (GRCm39)	T160S	possibly damaging	Het
Plekhd1	C	A	12: 80,753,998 (GRCm39)	Q155K	possibly damaging	Het
Ppara	A	G	15: 85,673,256 (GRCm39)	N149S	possibly damaging	Het
Slc30a5	C	T	13: 100,939,921 (GRCm39)	V665M	probably damaging	Het
Sntb1	T	G	15: 55,612,676 (GRCm39)	T301P	probably benign	Het
Tlr5	A	T	1: 182,801,457 (GRCm39)	T240S	probably benign	Het
Ttc5	A	G	14: 51,015,335 (GRCm39)	L92P	probably damaging	Het
Ttll10	A	G	4: 156,119,495 (GRCm39)	S664P	possibly damaging	Het
Vmn2r45	G	A	7: 8,488,542 (GRCm39)	R163C	probably benign	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
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
R3969: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'- GCTGTGAGCCAGAGCATATACACC -3'
(R):5'- TCTCTCTACCAGATCGCCTCCAAAG -3'

Sequencing Primer
(F):5'- CCAAAGAAGCATTGGTTTGACAC -3'
(R):5'- AGACACATCTCTTACACTTGCC -3'

Posted On

2014-01-05