Mutagenetix > Incidental Mutation

Incidental Mutation 'R4491:Vmn1r75'

330727

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r75

Ensembl Gene

ENSMUSG00000043308

Gene Name

vomeronasal 1 receptor 75

Synonyms

V1rg6

MMRRC Submission

041747-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R4491 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11614270-11615187 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 11614909 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 214 (Q214K)

Ref Sequence

ENSEMBL: ENSMUSP00000154577 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057229] [ENSMUST00000226622] [ENSMUST00000226855] [ENSMUST00000227611] [ENSMUST00000228268] [ENSMUST00000228463] [ENSMUST00000228646]

AlphaFold

Q8R289

Predicted Effect

probably damaging
Transcript: ENSMUST00000057229
AA Change: Q214K

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000051510
Gene: ENSMUSG00000043308
AA Change: Q214K

Domain	Start	End	E-Value	Type
Pfam:TAS2R	1	294	2.9e-10	PFAM
Pfam:V1R	35	293	1e-29	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000226622
AA Change: Q214K

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000226855
AA Change: Q214K

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227611
AA Change: Q172K

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228268
AA Change: Q172K

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000228463
AA Change: Q214K

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228646
AA Change: Q172K

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (64/65)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	C	A	5: 64,055,812 (GRCm39)	P183T	probably damaging	Het
Bcan	G	A	3: 87,897,540 (GRCm39)	R682*	probably null	Het
Bzw1	T	A	1: 58,443,418 (GRCm39)	L410Q	probably damaging	Het
Cdh5	A	T	8: 104,839,672 (GRCm39)	I48F	probably damaging	Het
Cdhr5	T	C	7: 140,853,970 (GRCm39)	N173D	possibly damaging	Het
Cfap74	T	C	4: 155,513,628 (GRCm39)	M480T	probably benign	Het
Col6a5	C	T	9: 105,817,211 (GRCm39)	A367T	unknown	Het
Cpsf1	A	C	15: 76,481,922 (GRCm39)	Y1064D	possibly damaging	Het
Defb6	A	T	8: 19,278,090 (GRCm39)	H54L	probably benign	Het
Dmtf1	A	G	5: 9,190,379 (GRCm39)		probably benign	Het
Dnah12	T	C	14: 26,455,758 (GRCm39)	L827S	possibly damaging	Het
Dnai4	T	C	4: 102,923,596 (GRCm39)	E411G	probably benign	Het
Dsc3	T	C	18: 20,134,922 (GRCm39)	T21A	probably benign	Het
Epb41l1	G	T	2: 156,364,088 (GRCm39)	D866Y	probably benign	Het
Epha1	T	C	6: 42,337,600 (GRCm39)	M860V	probably damaging	Het
Far2	T	C	6: 148,074,907 (GRCm39)	L380P	possibly damaging	Het
Fgd5	A	G	6: 91,966,280 (GRCm39)	I680V	possibly damaging	Het
Fnbp4	T	C	2: 90,583,312 (GRCm39)		probably null	Het
Focad	G	A	4: 88,278,142 (GRCm39)		probably null	Het
Gm14180	T	A	11: 99,621,139 (GRCm39)		probably benign	Het
Hbb-bh2	T	C	7: 103,489,622 (GRCm39)	T5A	probably benign	Het
Ighv7-2	A	G	12: 113,876,100 (GRCm39)	F2L	probably benign	Het
Igsf5	A	G	16: 96,165,281 (GRCm39)	T19A	probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Klb	A	G	5: 65,533,137 (GRCm39)	N482S	probably benign	Het
Lipo2	A	C	19: 33,699,100 (GRCm39)	L310R	probably damaging	Het
Mc3r	A	G	2: 172,091,123 (GRCm39)	H115R	possibly damaging	Het
Meioc	A	G	11: 102,565,746 (GRCm39)	D398G	possibly damaging	Het
Or10ag60	G	A	2: 87,437,736 (GRCm39)	M1I	probably null	Het
Or56a5	A	T	7: 104,792,983 (GRCm39)	C172*	probably null	Het
Or7a37	T	C	10: 78,806,151 (GRCm39)	S223P	probably damaging	Het
Pds5a	T	C	5: 65,792,780 (GRCm39)	T718A	probably benign	Het
Pdzd2	C	T	15: 12,385,723 (GRCm39)	D1016N	possibly damaging	Het
Pla2g2c	T	C	4: 138,461,719 (GRCm39)		probably null	Het
Plch1	T	C	3: 63,648,160 (GRCm39)	I404V	probably damaging	Het
Pou2af3	A	G	9: 51,181,955 (GRCm39)	F206L	probably benign	Het
Ppp2r5c	A	T	12: 110,546,956 (GRCm39)	D522V	possibly damaging	Het
Prex2	T	A	1: 11,232,487 (GRCm39)	S851R	probably benign	Het
Rapgef1	C	T	2: 29,609,668 (GRCm39)	P702S	possibly damaging	Het
Rasal3	T	A	17: 32,610,359 (GRCm39)	D976V	probably damaging	Het
Rasef	A	C	4: 73,652,740 (GRCm39)	L587R	probably damaging	Het
Rptn	A	T	3: 93,303,818 (GRCm39)	R384*	probably null	Het
Sema6a	G	A	18: 47,439,524 (GRCm39)		probably benign	Het
Sycp2	G	T	2: 178,016,778 (GRCm39)	T608K	probably damaging	Het
Syde1	C	T	10: 78,426,062 (GRCm39)	R35H	probably benign	Het
Taf1	G	T	X: 100,586,665 (GRCm39)	M313I	possibly damaging	Het
Taf15	A	T	11: 83,375,520 (GRCm39)	T31S	probably benign	Het
Tktl2	T	C	8: 66,964,664 (GRCm39)	V74A	probably damaging	Het
Tle4	A	G	19: 14,432,229 (GRCm39)	V489A	probably damaging	Het
Tmem30a	T	C	9: 79,684,567 (GRCm39)	H95R	probably damaging	Het
Trmt9b	G	A	8: 36,972,760 (GRCm39)	C70Y	probably damaging	Het
Vps13c	C	T	9: 67,817,475 (GRCm39)	T1049M	probably benign	Het
Zfp37	T	C	4: 62,110,365 (GRCm39)	Q274R	probably benign	Het
Zfp648	T	G	1: 154,080,873 (GRCm39)	L344R	probably damaging	Het

Other mutations in Vmn1r75

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01901:Vmn1r75	APN	7	11,614,739 (GRCm39)	missense	probably damaging	1.00
IGL02175:Vmn1r75	APN	7	11,614,774 (GRCm39)	missense	probably damaging	1.00
IGL02399:Vmn1r75	APN	7	11,615,093 (GRCm39)	missense	possibly damaging	0.82
IGL02648:Vmn1r75	APN	7	11,615,091 (GRCm39)	missense	probably benign	0.04
IGL03372:Vmn1r75	APN	7	11,614,496 (GRCm39)	missense	probably benign	0.29
R0538:Vmn1r75	UTSW	7	11,614,797 (GRCm39)	missense	probably damaging	0.97
R0599:Vmn1r75	UTSW	7	11,615,189 (GRCm39)	splice site	probably null
R3910:Vmn1r75	UTSW	7	11,614,757 (GRCm39)	missense	possibly damaging	0.92
R5566:Vmn1r75	UTSW	7	11,614,407 (GRCm39)	missense	probably damaging	1.00
R6051:Vmn1r75	UTSW	7	11,614,978 (GRCm39)	missense	probably damaging	1.00
R6230:Vmn1r75	UTSW	7	11,614,966 (GRCm39)	missense	probably damaging	0.98
R6490:Vmn1r75	UTSW	7	11,615,003 (GRCm39)	missense	probably damaging	1.00
R6570:Vmn1r75	UTSW	7	11,614,883 (GRCm39)	missense	probably damaging	0.98
R7184:Vmn1r75	UTSW	7	11,614,915 (GRCm39)	nonsense	probably null
R7189:Vmn1r75	UTSW	7	11,614,475 (GRCm39)	missense	possibly damaging	0.93
R7501:Vmn1r75	UTSW	7	11,614,997 (GRCm39)	missense	possibly damaging	0.67
R7973:Vmn1r75	UTSW	7	11,614,961 (GRCm39)	missense	probably benign	0.04
R7997:Vmn1r75	UTSW	7	11,614,600 (GRCm39)	missense	probably damaging	1.00
R8372:Vmn1r75	UTSW	7	11,614,657 (GRCm39)	missense	probably benign	0.10
R8812:Vmn1r75	UTSW	7	11,614,630 (GRCm39)	missense	possibly damaging	0.54
R8932:Vmn1r75	UTSW	7	11,614,838 (GRCm39)	missense	probably damaging	1.00
R9089:Vmn1r75	UTSW	7	11,614,453 (GRCm39)	missense	probably damaging	1.00
R9129:Vmn1r75	UTSW	7	11,614,513 (GRCm39)	missense	probably benign	0.15

Predicted Primers

PCR Primer
(F):5'- TGTCAGGCCCCAGTTACAAG -3'
(R):5'- CATGGAGGAAGTTACCGCTTACC -3'

Sequencing Primer
(F):5'- GCCCCAGTTACAAGAAAAATGTG -3'
(R):5'- CATGTTGCTAATGATAACAAAGGGAC -3'

Posted On

2015-07-21