Mutagenetix > Incidental Mutation

Incidental Mutation 'R6066:Vmn2r94'

484062

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r94

Ensembl Gene

ENSMUSG00000090417

Gene Name

vomeronasal 2, receptor 94

Synonyms

EG665227

MMRRC Submission

044230-MU

Accession Numbers

Essential gene?

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

Stock #

R6066 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18461384-18498018 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18477695 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 239 (S239P)

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: S239P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126386
Gene: ENSMUSG00000090417
AA Change: S239P

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: S239P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Adgrb1	T	C	15: 74,412,308 (GRCm39)	F429S	probably damaging	Het
Ahi1	A	T	10: 20,835,825 (GRCm39)	M53L	possibly damaging	Het
Ahr	A	T	12: 35,554,920 (GRCm39)	F400I	probably damaging	Het
Ak7	G	T	12: 105,699,750 (GRCm39)	G223V	possibly damaging	Het
Alpk3	A	G	7: 80,726,698 (GRCm39)	I128V	possibly damaging	Het
Ampd3	A	T	7: 110,392,974 (GRCm39)	E247D	probably benign	Het
Arhgap44	CTGCT	CTGCTTGCT	11: 64,922,910 (GRCm39)		probably null	Het
Arhgef10l	A	G	4: 140,304,391 (GRCm39)	F243L	probably damaging	Het
Cdh23	A	T	10: 60,269,537 (GRCm39)	V661E	probably damaging	Het
Cox8c	A	G	12: 102,866,534 (GRCm39)	T53A	probably benign	Het
Creld2	C	A	15: 88,707,969 (GRCm39)	T236K	possibly damaging	Het
Cul3	A	T	1: 80,261,476 (GRCm39)	C250S	probably benign	Het
Dhx37	A	C	5: 125,501,730 (GRCm39)	F510V	probably benign	Het
Fblim1	T	C	4: 141,305,220 (GRCm39)	D350G	probably damaging	Het
Lipm	A	G	19: 34,090,374 (GRCm39)	Y185C	probably damaging	Het
Mfsd4b4	A	G	10: 39,768,049 (GRCm39)	F348S	probably benign	Het
Misp	A	G	10: 79,662,146 (GRCm39)	R188G	possibly damaging	Het
Nbeal1	T	G	1: 60,287,564 (GRCm39)	I936S	probably benign	Het
Ngly1	G	A	14: 16,294,634 (GRCm38)	M521I	probably benign	Het
Nlrp9a	A	T	7: 26,257,510 (GRCm39)	Y376F	probably benign	Het
Oas3	T	C	5: 120,910,989 (GRCm39)	K197R	probably damaging	Het
Pars2	T	C	4: 106,511,276 (GRCm39)	Y353H	probably damaging	Het
Pik3r1	T	C	13: 101,822,828 (GRCm39)	N625D	possibly damaging	Het
Pkhd1l1	T	A	15: 44,391,525 (GRCm39)	S1530R	probably damaging	Het
Rsph6a	C	T	7: 18,799,740 (GRCm39)	P457L	probably damaging	Het
Secisbp2	T	C	13: 51,831,258 (GRCm39)	S565P	probably benign	Het
Slc28a3	T	C	13: 58,726,301 (GRCm39)	M163V	probably benign	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Svil	T	G	18: 5,106,724 (GRCm39)	V1855G	probably damaging	Het
Szt2	T	C	4: 118,229,171 (GRCm39)	T2890A	unknown	Het
Tatdn3	A	T	1: 190,778,465 (GRCm39)	V242E	probably benign	Het
Vmn1r22	T	G	6: 57,877,864 (GRCm39)	M38L	probably benign	Het
Vmn2r104	A	G	17: 20,258,573 (GRCm39)	F524L	possibly damaging	Het
Xpo7	T	C	14: 70,919,778 (GRCm39)	D679G	probably null	Het
Zbtb42	C	A	12: 112,646,041 (GRCm39)	T72K	probably damaging	Het
Zfp493	G	A	13: 67,935,069 (GRCm39)	A341T	possibly damaging	Het
Zfp811	A	G	17: 33,017,801 (GRCm39)	C80R	possibly 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
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
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'- TGAGCACTTGAAGAAGAAATTCCAC -3'
(R):5'- AGACACATCTCTTACACTTGCC -3'

Sequencing Primer
(F):5'- ACTTAGGTAGATAAATGTCTTCAGGG -3'
(R):5'- ACACTTGCCATTGTTTCTTTGATGG -3'

Posted On

2017-07-14