Mutagenetix > Incidental Mutation

Incidental Mutation 'R4014:Vmn1r214'

311877

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r214

Ensembl Gene

ENSMUSG00000061829

Gene Name

vomeronasal 1 receptor 214

Synonyms

V1rh5

MMRRC Submission

040951-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R4014 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23218508-23219611 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 23219520 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 338 (C338Y)

Ref Sequence

ENSEMBL: ENSMUSP00000153823 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074252] [ENSMUST00000227236] [ENSMUST00000227652]

AlphaFold

Q8R279

Predicted Effect

probably benign
Transcript: ENSMUST00000074252
AA Change: C338Y

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000073868
Gene: ENSMUSG00000061829
AA Change: C338Y

Domain	Start	End	E-Value	Type
transmembrane domain	17	39	N/A	INTRINSIC
Pfam:TAS2R	42	346	7.5e-9	PFAM
Pfam:V1R	75	337	5.3e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000227236
AA Change: C338Y

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000227652
AA Change: C338Y

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.6%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	T	19: 43,811,559 (GRCm39)	Q1008L	probably benign	Het
Adgrg7	A	G	16: 56,562,651 (GRCm39)	F562S	probably damaging	Het
Alms1	T	A	6: 85,655,334 (GRCm39)	N3293K	probably benign	Het
Cdk20	T	A	13: 64,585,319 (GRCm39)	V201D	probably benign	Het
Cenpf	A	G	1: 189,385,356 (GRCm39)	V2308A	probably benign	Het
Chek1	T	C	9: 36,634,050 (GRCm39)		probably benign	Het
Ciz1	G	T	2: 32,264,356 (GRCm39)	E497D	probably damaging	Het
Clcn6	A	G	4: 148,102,067 (GRCm39)	F339S	probably damaging	Het
Dctpp1	G	A	7: 126,856,285 (GRCm39)	R146C	probably damaging	Het
Dennd5a	C	T	7: 109,534,688 (GRCm39)		probably null	Het
Dmxl1	G	A	18: 49,997,029 (GRCm39)	V442I	probably benign	Het
Dmxl2	C	A	9: 54,285,993 (GRCm39)		probably null	Het
Dnah11	A	G	12: 117,938,649 (GRCm39)	I3273T	probably benign	Het
Dnhd1	T	A	7: 105,364,045 (GRCm39)	D4132E	probably damaging	Het
Dst	G	A	1: 34,230,363 (GRCm39)	W2327*	probably null	Het
Epb41	A	T	4: 131,709,756 (GRCm39)		probably benign	Het
Frem2	C	T	3: 53,559,774 (GRCm39)	V1578I	probably benign	Het
Fsip2	A	G	2: 82,813,862 (GRCm39)	T3394A	probably benign	Het
Gabra5	C	T	7: 57,138,758 (GRCm39)	D97N	probably damaging	Het
Habp2	A	G	19: 56,308,054 (GRCm39)	E546G	probably benign	Het
Hace1	A	G	10: 45,464,470 (GRCm39)		probably benign	Het
Herc4	T	C	10: 63,123,323 (GRCm39)	S433P	probably benign	Het
Igf2bp2	T	C	16: 21,882,426 (GRCm39)	N425S	probably damaging	Het
Krt26	C	T	11: 99,226,128 (GRCm39)	G189S	probably damaging	Het
Lama2	A	T	10: 26,860,372 (GRCm39)	D3038E	probably damaging	Het
Lmbrd2	T	C	15: 9,151,672 (GRCm39)		probably benign	Het
Lrp1b	A	G	2: 40,692,996 (GRCm39)	F3401L	possibly damaging	Het
Map2k7	T	A	8: 4,297,663 (GRCm39)	S421R	possibly damaging	Het
Matn1	A	G	4: 130,679,258 (GRCm39)	Q304R	possibly damaging	Het
Muc4	C	T	16: 32,575,647 (GRCm39)		probably benign	Het
Muc5b	G	A	7: 141,417,367 (GRCm39)	V3438M	probably benign	Het
Myo3a	A	G	2: 22,468,182 (GRCm39)	R479G	possibly damaging	Het
Mzf1	A	G	7: 12,777,883 (GRCm39)	V586A	possibly damaging	Het
Or7g12	T	C	9: 18,900,178 (GRCm39)	V298A	probably benign	Het
Or9g20	A	T	2: 85,629,820 (GRCm39)	Y265N	probably damaging	Het
Pcdhgb7	A	T	18: 37,885,416 (GRCm39)	E195D	probably benign	Het
Pde4b	A	G	4: 102,412,822 (GRCm39)	D199G	probably benign	Het
Rnf213	C	T	11: 119,336,555 (GRCm39)	Q3309*	probably null	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Slc22a4	C	G	11: 53,888,218 (GRCm39)	C270S	probably benign	Het
Smarca2	G	A	19: 26,661,327 (GRCm39)		probably null	Het
Spata31d1c	T	C	13: 65,183,213 (GRCm39)	S252P	probably damaging	Het
Tyr	A	G	7: 87,087,148 (GRCm39)	S455P	probably benign	Het
Urb1	A	T	16: 90,566,353 (GRCm39)	M1478K	probably damaging	Het
Usp1	A	G	4: 98,822,939 (GRCm39)	D751G	probably damaging	Het
Vmn2r103	A	G	17: 20,013,866 (GRCm39)	I219M	possibly damaging	Het
Wwp2	A	G	8: 108,212,253 (GRCm39)	N139S	probably benign	Het

Other mutations in Vmn1r214

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01072:Vmn1r214	APN	13	23,219,300 (GRCm39)	missense	possibly damaging	0.58
IGL01759:Vmn1r214	APN	13	23,218,662 (GRCm39)	missense	probably benign	0.00
IGL02000:Vmn1r214	APN	13	23,219,270 (GRCm39)	missense	possibly damaging	0.90
R0115:Vmn1r214	UTSW	13	23,219,464 (GRCm39)	nonsense	probably null
R0468:Vmn1r214	UTSW	13	23,219,423 (GRCm39)	missense	probably benign	0.04
R0481:Vmn1r214	UTSW	13	23,219,464 (GRCm39)	nonsense	probably null
R0574:Vmn1r214	UTSW	13	23,218,663 (GRCm39)	missense	probably benign	0.19
R0686:Vmn1r214	UTSW	13	23,218,962 (GRCm39)	missense	probably damaging	1.00
R1931:Vmn1r214	UTSW	13	23,219,494 (GRCm39)	missense	possibly damaging	0.46
R3893:Vmn1r214	UTSW	13	23,218,811 (GRCm39)	missense	probably benign	0.00
R4013:Vmn1r214	UTSW	13	23,219,520 (GRCm39)	missense	probably benign	0.21
R4015:Vmn1r214	UTSW	13	23,219,520 (GRCm39)	missense	probably benign	0.21
R4670:Vmn1r214	UTSW	13	23,219,141 (GRCm39)	missense	probably benign	0.01
R5091:Vmn1r214	UTSW	13	23,219,571 (GRCm39)	missense	possibly damaging	0.46
R5817:Vmn1r214	UTSW	13	23,219,491 (GRCm39)	missense	probably damaging	0.98
R6504:Vmn1r214	UTSW	13	23,219,610 (GRCm39)	makesense	probably null
R7096:Vmn1r214	UTSW	13	23,219,196 (GRCm39)	missense	probably damaging	1.00
R7141:Vmn1r214	UTSW	13	23,218,839 (GRCm39)	missense	probably benign	0.41
R7293:Vmn1r214	UTSW	13	23,218,839 (GRCm39)	missense	probably benign	0.41
R7759:Vmn1r214	UTSW	13	23,218,631 (GRCm39)	missense	not run
R8805:Vmn1r214	UTSW	13	23,219,273 (GRCm39)	missense	possibly damaging	0.95
R8810:Vmn1r214	UTSW	13	23,219,082 (GRCm39)	missense	probably benign	0.36
R9383:Vmn1r214	UTSW	13	23,219,095 (GRCm39)	missense	probably benign	0.00
R9660:Vmn1r214	UTSW	13	23,219,007 (GRCm39)	missense	probably benign	0.00
R9711:Vmn1r214	UTSW	13	23,218,508 (GRCm39)	start codon destroyed	probably null	0.01
R9728:Vmn1r214	UTSW	13	23,219,007 (GRCm39)	missense	probably benign	0.00
X0002:Vmn1r214	UTSW	13	23,218,971 (GRCm39)	missense	probably damaging	0.98
Z1176:Vmn1r214	UTSW	13	23,218,665 (GRCm39)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- AGAACTCCAAGCTTCTCTACAG -3'
(R):5'- TAACCTCAGTGCAAGGCTTG -3'

Sequencing Primer
(F):5'- AGAACTCCCCCTGAGCTGAGAG -3'
(R):5'- CCTCAGTGCAAGGCTTGAGTAAC -3'

Posted On

2015-04-29