Mutagenetix > Incidental Mutation

Incidental Mutation 'R1276:Vmn2r94'

150912

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r94

Ensembl Gene

ENSMUSG00000090417

Gene Name

vomeronasal 2, receptor 94

Synonyms

EG665227

MMRRC Submission

039342-MU

Accession Numbers

Essential gene?

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

Stock #

R1276 (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 18477344 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 356 (S356G)

Ref Sequence

ENSEMBL: ENSMUSP00000126386 (fasta)

Gene Model

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

AlphaFold

E9PZK8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172190
AA Change: S356G

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000126386
Gene: ENSMUSG00000090417
AA Change: S356G

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 benign
Transcript: ENSMUST00000231815
AA Change: S356G

PolyPhen 2 Score 0.443 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.2%
20x: 92.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra2	C	A	8: 27,609,852 (GRCm39)	A660D	probably damaging	Het
Ccdc82	A	T	9: 13,281,903 (GRCm39)	I443F	probably benign	Het
Cct4	C	T	11: 22,952,171 (GRCm39)	L391F	probably damaging	Het
Cep63	A	T	9: 102,466,099 (GRCm39)	D642E	possibly damaging	Het
Chd5	T	A	4: 152,463,191 (GRCm39)	L1424Q	probably damaging	Het
Cox4i1	A	G	8: 121,400,089 (GRCm39)	Y71C	probably damaging	Het
Cyp2c69	T	A	19: 39,864,668 (GRCm39)	Q270L	possibly damaging	Het
Egln2	TTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTG	7: 26,864,430 (GRCm39)		probably benign	Het
Fbln1	A	G	15: 85,113,791 (GRCm39)	D175G	probably damaging	Het
Fbxw15	G	A	9: 109,387,314 (GRCm39)	S227F	probably damaging	Het
Gm9847	A	G	12: 14,544,932 (GRCm39)		noncoding transcript	Het
Hdlbp	A	T	1: 93,348,823 (GRCm39)	S576T	probably benign	Het
Hmgxb3	T	C	18: 61,298,576 (GRCm39)	N296S	probably benign	Het
Lrba	T	A	3: 86,571,833 (GRCm39)	V2379E	probably damaging	Het
Lrp1b	A	T	2: 41,618,588 (GRCm39)	I162N	probably benign	Het
Mydgf	A	G	17: 56,486,362 (GRCm39)		probably null	Het
Sh3pxd2a	T	C	19: 47,256,822 (GRCm39)	D632G	probably benign	Het
Ska3	T	C	14: 58,057,726 (GRCm39)	M209V	probably damaging	Het
Slc4a10	A	G	2: 62,080,787 (GRCm39)	E308G	probably damaging	Het
Srsf4	C	T	4: 131,624,996 (GRCm39)	T131M	probably damaging	Het
Suco	A	T	1: 161,685,025 (GRCm39)	S156T	probably benign	Het
Svs5	T	A	2: 164,079,168 (GRCm39)	Q246H	possibly damaging	Het
Syne2	A	G	12: 75,987,963 (GRCm39)		probably null	Het
Tbc1d9b	T	A	11: 50,043,476 (GRCm39)	H532Q	possibly damaging	Het
Tcf21	G	A	10: 22,695,489 (GRCm39)	T105I	probably damaging	Het
Thsd7a	C	A	6: 12,418,369 (GRCm39)	C620F	probably damaging	Het
Vmn1r194	A	G	13: 22,429,031 (GRCm39)	Y216C	probably damaging	Het
Wasf1	T	A	10: 40,812,522 (GRCm39)	I437N	unknown	Het
Wdr24	A	G	17: 26,046,441 (GRCm39)	Y538C	probably benign	Het
Zbtb4	G	T	11: 69,667,045 (GRCm39)	D117Y	probably damaging	Het
Zfp654	A	T	16: 64,605,699 (GRCm39)	F293L	probably damaging	Het
Zkscan7	A	G	9: 122,719,788 (GRCm39)	E158G	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
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'- ACACAAACAATCCTTTGATTGCGGAC -3'
(R):5'- GCCACATGGACTGCATATTTTACAAGC -3'

Sequencing Primer
(F):5'- CCTTTGATTGCGGACAAGATAAAC -3'
(R):5'- GTCTGGGTCATGAACATTGAAC -3'

Posted On

2014-01-29