Mutagenetix > Incidental Mutation

Incidental Mutation 'R6561:Vmn2r39'

523134

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r39

Ensembl Gene

ENSMUSG00000096658

Gene Name

vomeronasal 2, receptor 39

Synonyms

EG545909

MMRRC Submission

044685-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R6561 (G1)

Quality Score

86.0076

Status

Not validated

Chromosome

Chromosomal Location

9017749-9033681 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 9018092 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 748 (Y748F)

Ref Sequence

ENSEMBL: ENSMUSP00000134010 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000174388]

AlphaFold

L7N2E5

Predicted Effect

probably damaging
Transcript: ENSMUST00000174388
AA Change: Y748F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134010
Gene: ENSMUSG00000096658
AA Change: Y748F

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ANF_receptor	73	469	9.1e-32	PFAM
Pfam:NCD3G	512	565	7.9e-21	PFAM
Pfam:7tm_3	598	833	2.6e-55	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.9%

Validation Efficiency

97% (30/31)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	T	5: 8,977,825 (GRCm39)	I468F	probably benign	Het
Ahsa2	T	A	11: 23,441,036 (GRCm39)	I202F	possibly damaging	Het
Akr1b1	C	T	6: 34,286,939 (GRCm39)	V206M	possibly damaging	Het
Anapc1	A	G	2: 128,505,919 (GRCm39)	V639A	probably damaging	Het
Cdh12	A	G	15: 21,492,680 (GRCm39)	Y233C	probably damaging	Het
Dchs2	G	T	3: 83,036,476 (GRCm39)	V408F	probably benign	Het
Dnmt3c	T	A	2: 153,561,950 (GRCm39)	L551Q	probably damaging	Het
Dock2	A	G	11: 34,578,365 (GRCm39)	F746S	probably damaging	Het
Fastkd3	C	T	13: 68,732,149 (GRCm39)	R157C	possibly damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ier3ip1	T	A	18: 77,027,344 (GRCm39)	S58T	probably damaging	Het
Itpr2	A	G	6: 146,135,504 (GRCm39)	V1809A	probably damaging	Het
Kif22	T	A	7: 126,630,225 (GRCm39)	N437I	probably benign	Het
Klri1	A	G	6: 129,693,964 (GRCm39)	V41A	probably benign	Het
Lrrc14	T	A	15: 76,597,646 (GRCm39)	D125E	possibly damaging	Het
Nek10	A	T	14: 14,828,448 (GRCm38)	N90I	possibly damaging	Het
Nostrin	G	A	2: 69,011,201 (GRCm39)	A331T	probably benign	Het
Or4k2	T	C	14: 50,423,775 (GRCm39)	K300E	probably damaging	Het
Or5b109	A	G	19: 13,212,394 (GRCm39)	Y260C	probably damaging	Het
Or8b12i	T	C	9: 20,082,073 (GRCm39)	T265A	probably benign	Het
Plxna1	A	G	6: 89,333,960 (GRCm39)	V223A	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Homo
Skic3	T	A	13: 76,298,638 (GRCm39)	S1115T	probably damaging	Het
Smg1	A	T	7: 117,765,300 (GRCm39)		probably benign	Het
Sorbs1	A	G	19: 40,314,496 (GRCm39)	I772T	probably benign	Het
Sptbn2	A	G	19: 4,797,954 (GRCm39)	N1927S	probably benign	Het
Tab1	T	C	15: 80,033,031 (GRCm39)	V105A	probably benign	Het
Trbv15	A	T	6: 41,118,414 (GRCm39)	T57S	probably benign	Het
Vmn1r78	A	T	7: 11,886,826 (GRCm39)	I146F	probably damaging	Het
Zfp493	T	A	13: 67,934,338 (GRCm39)	V65D	possibly damaging	Het

Other mutations in Vmn2r39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02059:Vmn2r39	APN	7	9,026,643 (GRCm39)	missense	probably benign	0.19
IGL03017:Vmn2r39	APN	7	9,017,940 (GRCm39)	missense	probably damaging	1.00
R1314:Vmn2r39	UTSW	7	9,017,981 (GRCm39)	missense	probably damaging	1.00
R1358:Vmn2r39	UTSW	7	9,026,687 (GRCm39)	missense	possibly damaging	0.63
R1480:Vmn2r39	UTSW	7	9,017,955 (GRCm39)	missense	probably damaging	1.00
R4119:Vmn2r39	UTSW	7	9,026,673 (GRCm39)	missense	probably benign	0.01
R4120:Vmn2r39	UTSW	7	9,026,673 (GRCm39)	missense	probably benign	0.01
R4720:Vmn2r39	UTSW	7	9,026,469 (GRCm39)	critical splice donor site	probably null
R4990:Vmn2r39	UTSW	7	9,026,675 (GRCm39)	missense	probably benign
R5079:Vmn2r39	UTSW	7	9,026,489 (GRCm39)	missense	probably benign	0.05
R5695:Vmn2r39	UTSW	7	9,028,150 (GRCm39)	missense	possibly damaging	0.87
R6131:Vmn2r39	UTSW	7	9,017,963 (GRCm39)	missense	probably damaging	1.00
R7108:Vmn2r39	UTSW	7	9,026,667 (GRCm39)	missense	probably damaging	0.96
R7122:Vmn2r39	UTSW	7	9,017,761 (GRCm39)	missense	possibly damaging	0.72
R8793:Vmn2r39	UTSW	7	9,028,149 (GRCm39)	missense	probably damaging	1.00
R9324:Vmn2r39	UTSW	7	9,030,684 (GRCm39)	missense	probably damaging	0.96
Z1176:Vmn2r39	UTSW	7	9,018,032 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAACCATGACCTTGCCCTTG -3'
(R):5'- TGTGGTTCTCGCCTTCAAAG -3'

Sequencing Primer
(F):5'- CCCTTGGTGCTATGGTAGACAG -3'
(R):5'- GGTTCTCGCCTTCAAAGTCACAG -3'

Posted On

2018-06-06