Mutagenetix > Incidental Mutations

Incidental Mutation 'R5817:Vmn1r214'

449121

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r214

Ensembl Gene

ENSMUSG00000061829

Gene Name

vomeronasal 1 receptor 214

Synonyms

V1rh5

MMRRC Submission

043397-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R5817 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23030418-23037957 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 23035321 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 328 (I328M)

Ref Sequence

ENSEMBL: ENSMUSP00000153823 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000074252
AA Change: I328M

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000073868
Gene: ENSMUSG00000061829
AA Change: I328M

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 damaging
Transcript: ENSMUST00000227236
AA Change: I328M

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000227652
AA Change: I328M

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	A	G	4: 144,622,927	I251M	probably benign	Het
Abcf3	T	C	16: 20,549,083	V63A	possibly damaging	Het
Agpat4	C	T	17: 12,215,210		probably benign	Het
Ahcyl2	G	A	6: 29,890,721	V292M	probably damaging	Het
Ahnak2	A	T	12: 112,774,003	F406I	probably damaging	Het
Aqp7	G	A	4: 41,035,510	T115I	probably benign	Het
Arhgef5	G	A	6: 43,275,104	D930N	probably benign	Het
Casc4	T	A	2: 121,906,044	S231T	probably benign	Het
Cc2d2a	G	A	5: 43,712,418	R887Q	probably damaging	Het
Ceacam18	A	G	7: 43,641,841	T236A	probably benign	Het
Chst15	A	T	7: 132,269,144	Y221N	probably damaging	Het
Chst15	G	A	7: 132,269,147	L220F	probably damaging	Het
Cntn2	G	A	1: 132,518,748	T784I	probably benign	Het
D630003M21Rik	A	G	2: 158,196,493	L1011P	probably damaging	Het
Dync2h1	T	A	9: 6,996,905	D3894V	probably damaging	Het
E330017A01Rik	T	C	16: 58,636,793	I89V	probably benign	Het
Fam13b	T	C	18: 34,457,797	M443V	possibly damaging	Het
Fam20a	T	A	11: 109,673,418	Q503L	possibly damaging	Het
Gm11677	C	T	11: 111,724,711		noncoding transcript	Het
Gm21319	G	T	12: 87,773,431	D119E	probably benign	Het
Gm5454	T	A	13: 103,356,632		noncoding transcript	Het
Gm5581	A	G	6: 131,167,169		noncoding transcript	Het
Gm6619	A	G	6: 131,486,437	I6V	unknown	Het
Gmcl1	A	G	6: 86,714,248	M255T	probably damaging	Het
Gprc5c	T	A	11: 114,863,624	C42*	probably null	Het
Hmcn1	T	A	1: 150,737,524	E1384V	possibly damaging	Het
Il6	A	G	5: 30,018,008	I91V	probably benign	Het
Kmt2d	A	T	15: 98,862,363	S1005T	unknown	Het
Map1a	A	T	2: 121,298,910	H143L	possibly damaging	Het
Mical2	A	T	7: 112,323,659	T624S	probably benign	Het
Msh3	A	T	13: 92,286,000	N549K	possibly damaging	Het
Ncr1	T	A	7: 4,340,895	I164N	possibly damaging	Het
Olfr1333	T	G	4: 118,830,099	T115P	probably damaging	Het
Olfr554	A	G	7: 102,640,378	N44S	probably damaging	Het
Olfr586	A	T	7: 103,121,908	M292K	possibly damaging	Het
Olfr926	A	G	9: 38,877,377	D67G	probably damaging	Het
Palmd	T	C	3: 116,918,623	I541M	probably benign	Het
Pcsk7	A	T	9: 45,926,033	M552L	probably benign	Het
Plekhh2	A	G	17: 84,571,726	E626G	possibly damaging	Het
Pole	G	A	5: 110,312,972	D1176N	probably damaging	Het
Polr2f	T	C	15: 79,151,669	I110T	probably damaging	Het
Pomt1	A	T	2: 32,248,679	I436F	probably damaging	Het
Prag1	A	C	8: 36,103,703	Q480P	probably damaging	Het
Qars	C	T	9: 108,510,242		probably benign	Het
Ralgapa2	G	A	2: 146,333,486	S1797L	probably damaging	Het
Rbm26	T	C	14: 105,128,603	T832A	probably damaging	Het
Rnf169	A	G	7: 99,925,769	S540P	probably benign	Het
Serpini1	T	A	3: 75,613,324	M76K	probably benign	Het
Shq1	A	G	6: 100,573,720	L419S	probably damaging	Het
Slc25a17	G	A	15: 81,327,060	T225M	probably damaging	Het
Slc6a5	C	A	7: 49,956,491	L716I	probably benign	Het
Smc1b	A	G	15: 85,067,783	V1149A	probably damaging	Het
Trappc1	A	T	11: 69,324,234	Q26L	possibly damaging	Het
Trpm2	C	A	10: 77,965,980	G84W	probably damaging	Het
Ttn	G	A	2: 76,742,666	T24215M	probably damaging	Het
Ubn2	C	A	6: 38,479,153	T337K	probably damaging	Het
Ubr4	A	G	4: 139,468,847	K1265E	probably damaging	Het
Xcr1	C	T	9: 123,855,857	C280Y	possibly damaging	Het
Zc3h13	A	G	14: 75,328,132	E895G	probably damaging	Het

Other mutations in Vmn1r214

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01072:Vmn1r214	APN	13	23035130	missense	possibly damaging	0.58
IGL01759:Vmn1r214	APN	13	23034492	missense	probably benign	0.00
IGL02000:Vmn1r214	APN	13	23035100	missense	possibly damaging	0.90
R0115:Vmn1r214	UTSW	13	23035294	nonsense	probably null
R0468:Vmn1r214	UTSW	13	23035253	missense	probably benign	0.04
R0481:Vmn1r214	UTSW	13	23035294	nonsense	probably null
R0574:Vmn1r214	UTSW	13	23034493	missense	probably benign	0.19
R0686:Vmn1r214	UTSW	13	23034792	missense	probably damaging	1.00
R1931:Vmn1r214	UTSW	13	23035324	missense	possibly damaging	0.46
R3893:Vmn1r214	UTSW	13	23034641	missense	probably benign	0.00
R4013:Vmn1r214	UTSW	13	23035350	missense	probably benign	0.21
R4014:Vmn1r214	UTSW	13	23035350	missense	probably benign	0.21
R4015:Vmn1r214	UTSW	13	23035350	missense	probably benign	0.21
R4670:Vmn1r214	UTSW	13	23034971	missense	probably benign	0.01
R5091:Vmn1r214	UTSW	13	23035401	missense	possibly damaging	0.46
R6504:Vmn1r214	UTSW	13	23035440	makesense	probably null
R7096:Vmn1r214	UTSW	13	23035026	missense	probably damaging	1.00
R7141:Vmn1r214	UTSW	13	23034669	missense	probably benign	0.41
R7293:Vmn1r214	UTSW	13	23034669	missense	probably benign	0.41
R7759:Vmn1r214	UTSW	13	23034461	missense	not run
X0002:Vmn1r214	UTSW	13	23034801	missense	probably damaging	0.98
Z1176:Vmn1r214	UTSW	13	23034495	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- TCAGAACTCCAAGCTTCTCTACAG -3'
(R):5'- GTGCAAGGCTTGAGTAACCAAG -3'

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

Posted On

2016-12-20