Mutagenetix > Incidental Mutation

Incidental Mutation 'R5555:Vmn1r54'

435333

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r54

Ensembl Gene

ENSMUSG00000047203

Gene Name

vomeronasal 1 receptor 54

Synonyms

V1ra9, VN7

MMRRC Submission

043112-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R5555 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90246088-90247035 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 90246347 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 87 (C87Y)

Ref Sequence

ENSEMBL: ENSMUSP00000154354 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058039] [ENSMUST00000226921]

AlphaFold

Q9EPB8

Predicted Effect

probably benign
Transcript: ENSMUST00000058039
AA Change: C87Y

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000063052
Gene: ENSMUSG00000047203
AA Change: C87Y

Domain	Start	End	E-Value	Type
Pfam:TAS2R	11	307	1.2e-11	PFAM
Pfam:V1R	38	301	5.5e-94	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000226921
AA Change: C87Y

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg7	T	C	6: 114,679,014 (GRCm39)	V366A	probably damaging	Het
Cadm2	A	T	16: 66,581,702 (GRCm39)	V192E	probably damaging	Het
Chil6	C	T	3: 106,297,268 (GRCm39)	S291N	possibly damaging	Het
D7Ertd443e	T	C	7: 133,951,320 (GRCm39)	T118A	probably benign	Het
Dennd4b	G	A	3: 90,175,675 (GRCm39)	R148Q	probably damaging	Het
Dnah1	T	A	14: 31,012,776 (GRCm39)	T1837S	probably damaging	Het
Elapor2	T	A	5: 9,472,296 (GRCm39)		probably null	Het
Ext1	A	G	15: 52,951,539 (GRCm39)	V515A	probably damaging	Het
Fer1l4	T	C	2: 155,890,109 (GRCm39)	E272G	probably damaging	Het
Fras1	T	A	5: 96,825,236 (GRCm39)	H1475Q	probably benign	Het
Grid1	T	C	14: 35,242,662 (GRCm39)	S672P	possibly damaging	Het
Gtpbp4	A	G	13: 9,029,463 (GRCm39)		probably null	Het
Hsp90aa1	A	T	12: 110,659,168 (GRCm39)	V543E	probably damaging	Het
Irf5	T	C	6: 29,531,145 (GRCm39)	S4P	probably benign	Het
Kif2b	G	T	11: 91,466,286 (GRCm39)	Q666K	probably benign	Het
Macc1	A	T	12: 119,414,110 (GRCm39)	H762L	probably benign	Het
Map1s	C	T	8: 71,369,751 (GRCm39)	T941M	probably damaging	Het
Mrgprb1	T	A	7: 48,097,523 (GRCm39)	I130F	probably benign	Het
Nbeal1	T	G	1: 60,276,311 (GRCm39)	V684G	possibly damaging	Het
Ngly1	C	T	14: 16,270,508 (GRCm38)	Q173*	probably null	Het
Plcb3	A	T	19: 6,943,587 (GRCm39)	M104K	probably benign	Het
Plcg2	T	A	8: 118,339,734 (GRCm39)	Y1048*	probably null	Het
Ptprf	T	C	4: 118,082,121 (GRCm39)	Y1039C	probably damaging	Het
Rab38	A	G	7: 88,079,695 (GRCm39)	Y29C	probably damaging	Het
Rcan2	T	A	17: 44,347,921 (GRCm39)	V210E	probably damaging	Het
Rptn	A	T	3: 93,304,008 (GRCm39)	Q447L	probably benign	Het
Scel	G	A	14: 103,839,642 (GRCm39)	R495K	probably benign	Het
Scn11a	G	T	9: 119,584,304 (GRCm39)	P1437Q	probably damaging	Het
Sim2	A	G	16: 93,910,315 (GRCm39)	D239G	probably damaging	Het
Skap2	A	G	6: 51,836,998 (GRCm39)	Y356H	probably damaging	Het
Skint11	A	G	4: 114,051,798 (GRCm39)	T49A	probably benign	Het
Snx33	G	A	9: 56,832,681 (GRCm39)	H463Y	probably benign	Het
Steap2	T	C	5: 5,727,544 (GRCm39)	T264A	possibly damaging	Het
Stk40	T	A	4: 126,028,852 (GRCm39)	V238E	probably damaging	Het
Sun2	T	C	15: 79,618,328 (GRCm39)	D277G	probably benign	Het
Ttll9	T	C	2: 152,832,020 (GRCm39)		probably null	Het

Other mutations in Vmn1r54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01912:Vmn1r54	APN	6	90,246,442 (GRCm39)	missense	probably damaging	1.00
IGL02421:Vmn1r54	APN	6	90,246,133 (GRCm39)	missense	probably benign	0.01
IGL02535:Vmn1r54	APN	6	90,246,260 (GRCm39)	missense	possibly damaging	0.78
IGL03083:Vmn1r54	APN	6	90,246,854 (GRCm39)	missense	possibly damaging	0.82
R0646:Vmn1r54	UTSW	6	90,246,635 (GRCm39)	missense	probably benign	0.00
R2047:Vmn1r54	UTSW	6	90,246,970 (GRCm39)	missense	probably damaging	1.00
R4409:Vmn1r54	UTSW	6	90,246,864 (GRCm39)	nonsense	probably null
R4467:Vmn1r54	UTSW	6	90,246,253 (GRCm39)	missense	probably damaging	1.00
R4812:Vmn1r54	UTSW	6	90,246,307 (GRCm39)	missense	probably benign	0.22
R5042:Vmn1r54	UTSW	6	90,246,422 (GRCm39)	missense	possibly damaging	0.53
R6183:Vmn1r54	UTSW	6	90,246,272 (GRCm39)	missense	possibly damaging	0.61
R6393:Vmn1r54	UTSW	6	90,246,304 (GRCm39)	missense	probably benign	0.45
R7216:Vmn1r54	UTSW	6	90,246,647 (GRCm39)	missense	probably damaging	1.00
R7480:Vmn1r54	UTSW	6	90,246,160 (GRCm39)	missense	possibly damaging	0.58
R8413:Vmn1r54	UTSW	6	90,246,413 (GRCm39)	missense	probably damaging	1.00
R8995:Vmn1r54	UTSW	6	90,246,668 (GRCm39)	missense	probably benign	0.22
R9055:Vmn1r54	UTSW	6	90,246,100 (GRCm39)	missense	probably benign	0.24
R9383:Vmn1r54	UTSW	6	90,247,009 (GRCm39)	missense	probably benign	0.03
R9406:Vmn1r54	UTSW	6	90,246,092 (GRCm39)	missense	probably damaging	0.99
R9657:Vmn1r54	UTSW	6	90,246,984 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTGGGATCTCAGGCAACAGC -3'
(R):5'- GCAGTTATATATGTTGCAAGGGGAC -3'

Sequencing Primer
(F):5'- GATCTCAGGCAACAGCTTCCTTC -3'
(R):5'- TTGCAAGGGGACTGCTAATG -3'

Posted On

2016-10-24