Mutagenetix > Incidental Mutation

Incidental Mutation 'R5238:Vmn1r50'

400492

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r50

Ensembl Gene

ENSMUSG00000094553

Gene Name

vomeronasal 1 receptor 50

Synonyms

V1rb1, VN2

MMRRC Submission

042809-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R5238 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90084257-90085189 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 90084465 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 70 (A70V)

Ref Sequence

ENSEMBL: ENSMUSP00000154560 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081706] [ENSMUST00000089417] [ENSMUST00000226577]

AlphaFold

Q9EP51

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081706
AA Change: A70V

PolyPhen 2 Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000080407
Gene: ENSMUSG00000094553
AA Change: A70V

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
Pfam:V1R	38	302	1e-137	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000089417
AA Change: A70V

PolyPhen 2 Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000100705
Gene: ENSMUSG00000094553
AA Change: A70V

Domain	Start	End	E-Value	Type
Pfam:V1R	39	303	9.8e-139	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226577
AA Change: A70V

PolyPhen 2 Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12b	T	A	12: 70,210,142 (GRCm39)		probably null	Het
Adamtsl5	C	T	10: 80,181,192 (GRCm39)	G63D	probably damaging	Het
Armc9	T	A	1: 86,127,569 (GRCm39)	M68K	probably benign	Het
Atad2	A	C	15: 57,971,733 (GRCm39)	H381Q	possibly damaging	Het
Bclaf1	T	G	10: 20,208,130 (GRCm39)		probably benign	Het
Ccdc188	A	G	16: 18,037,038 (GRCm39)	E238G	probably damaging	Het
Cldn19	G	T	4: 119,112,930 (GRCm39)	C54F	probably damaging	Het
Clip1	T	C	5: 123,785,946 (GRCm39)	D246G	probably damaging	Het
Col20a1	T	C	2: 180,640,379 (GRCm39)	V512A	probably damaging	Het
Cyfip1	G	T	7: 55,541,779 (GRCm39)	A355S	probably benign	Het
Dffa	T	G	4: 149,188,760 (GRCm39)	L18R	probably benign	Het
Dnah8	G	A	17: 31,009,891 (GRCm39)	E3761K	probably damaging	Het
Dusp10	A	G	1: 183,769,210 (GRCm39)	T59A	possibly damaging	Het
Eed	T	C	7: 89,626,173 (GRCm39)	S67G	probably benign	Het
Fam181a	C	T	12: 103,282,392 (GRCm39)	A99V	probably benign	Het
Gm12185	G	A	11: 48,799,044 (GRCm39)	T483I	possibly damaging	Het
Htr3b	A	T	9: 48,848,542 (GRCm39)	C234*	probably null	Het
Kidins220	C	A	12: 25,053,009 (GRCm39)	T433K	probably benign	Het
Man2a1	T	C	17: 64,943,502 (GRCm39)	Y186H	probably damaging	Het
Mcm9	G	T	10: 53,506,093 (GRCm39)	S60R	possibly damaging	Het
Mst1r	T	A	9: 107,784,773 (GRCm39)	C144S	probably damaging	Het
Nckap5	A	G	1: 125,955,461 (GRCm39)	C364R	probably damaging	Het
Nptx2	T	C	5: 144,493,041 (GRCm39)	I376T	probably damaging	Het
Or2a14	T	C	6: 43,130,961 (GRCm39)	S241P	probably damaging	Het
Otogl	A	T	10: 107,604,834 (GRCm39)	C2191S	probably damaging	Het
Plxdc2	T	A	2: 16,655,026 (GRCm39)	F208L	probably damaging	Het
Robo3	A	C	9: 37,328,175 (GRCm39)	Y1339D	probably damaging	Het
Rsph9	G	T	17: 46,446,008 (GRCm39)	Y42*	probably null	Het
Slc39a1	T	A	3: 90,156,702 (GRCm39)	L86Q	probably null	Het
Slfn8	T	C	11: 82,904,214 (GRCm39)	D392G	probably damaging	Het
Tiprl	A	G	1: 165,043,337 (GRCm39)	V263A	probably benign	Het
Tmub2	A	G	11: 102,175,820 (GRCm39)		probably benign	Het
Trpm1	T	A	7: 63,918,702 (GRCm39)	F681I	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Uba3	A	T	6: 97,178,896 (GRCm39)	C68*	probably null	Het
Vmn1r158	T	A	7: 22,489,799 (GRCm39)	M137L	probably benign	Het
Wwc1	T	C	11: 35,766,723 (GRCm39)	K511E	probably benign	Het
Zfp600	T	C	4: 146,131,741 (GRCm39)		probably null	Het
Zng1	G	T	19: 24,897,994 (GRCm39)	T382K	probably damaging	Het

Other mutations in Vmn1r50

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02177:Vmn1r50	APN	6	90,085,139 (GRCm39)	missense	probably benign
IGL02383:Vmn1r50	APN	6	90,084,461 (GRCm39)	missense	possibly damaging	0.66
IGL03304:Vmn1r50	APN	6	90,084,625 (GRCm39)	missense	probably damaging	0.97
IGL03412:Vmn1r50	APN	6	90,085,007 (GRCm39)	missense	probably damaging	1.00
R0032:Vmn1r50	UTSW	6	90,084,782 (GRCm39)	missense	probably damaging	0.98
R0504:Vmn1r50	UTSW	6	90,084,863 (GRCm39)	missense	probably damaging	1.00
R2191:Vmn1r50	UTSW	6	90,085,121 (GRCm39)	missense	probably benign	0.09
R3548:Vmn1r50	UTSW	6	90,084,476 (GRCm39)	missense	probably damaging	1.00
R4668:Vmn1r50	UTSW	6	90,084,513 (GRCm39)	missense	probably benign	0.44
R4763:Vmn1r50	UTSW	6	90,085,062 (GRCm39)	missense	probably benign	0.00
R7002:Vmn1r50	UTSW	6	90,084,819 (GRCm39)	missense	probably benign
R7172:Vmn1r50	UTSW	6	90,084,386 (GRCm39)	missense	possibly damaging	0.89
R8459:Vmn1r50	UTSW	6	90,084,235 (GRCm39)	start gained	probably benign
R8478:Vmn1r50	UTSW	6	90,085,071 (GRCm39)	missense	probably benign	0.07
R8985:Vmn1r50	UTSW	6	90,085,017 (GRCm39)	missense	probably benign	0.26
R9096:Vmn1r50	UTSW	6	90,085,022 (GRCm39)	missense	probably benign	0.01
R9097:Vmn1r50	UTSW	6	90,085,022 (GRCm39)	missense	probably benign	0.01
Z1177:Vmn1r50	UTSW	6	90,084,951 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCCTACCCAGATACAATGAGTAAAGC -3'
(R):5'- AGGCACCTGAGATGTGATGG -3'

Sequencing Primer
(F):5'- GAGTAAAGCAAACTTACTCCACACTG -3'
(R):5'- CCTGAGATGTGATGGGGAGATTTATG -3'

Posted On

2016-07-06