Mutagenetix > Incidental Mutations

Incidental Mutation 'R1554:Vmn1r217'

170183

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r217

Ensembl Gene

ENSMUSG00000115791

Gene Name

vomeronasal 1 receptor 217

Synonyms

V1rh14

MMRRC Submission

039593-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.227) question?

Stock #

R1554 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23105100-23118226 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23114294 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 146 (I146N)

Ref Sequence

ENSEMBL: ENSMUSP00000154563 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091721] [ENSMUST00000227110] [ENSMUST00000228656]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000091721
AA Change: I146N

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000089314
Gene: ENSMUSG00000115791
AA Change: I146N

Domain	Start	End	E-Value	Type
transmembrane domain	9	31	N/A	INTRINSIC
Pfam:V1R	33	296	7.1e-37	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227110
AA Change: I146N

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228656
AA Change: I146N

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 89.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	T	A	19: 31,908,902	D70E	possibly damaging	Het
Adamts7	A	T	9: 90,173,650	D152V	probably damaging	Het
Api5	T	C	2: 94,425,643	D233G	probably benign	Het
Btaf1	A	G	19: 36,996,598	D1390G	probably benign	Het
Cep135	G	A	5: 76,634,213	W893*	probably null	Het
Cmtm6	T	A	9: 114,746,482	V153D	possibly damaging	Het
Dnah11	C	T	12: 118,082,499	V1735I	possibly damaging	Het
Dnm1l	T	C	16: 16,341,426	N104S	probably benign	Het
Dpyd	A	T	3: 119,065,046		probably null	Het
Dtx1	T	C	5: 120,683,321	K387R	probably damaging	Het
Ercc4	A	G	16: 13,147,622	D706G	probably damaging	Het
Fam208b	A	G	13: 3,576,374	V1192A	possibly damaging	Het
Fat2	T	C	11: 55,253,664	N4128S	probably benign	Het
Gm42669	T	A	5: 107,507,787	C639S	possibly damaging	Het
Grk3	T	A	5: 112,969,269	I89L	possibly damaging	Het
Grm8	A	T	6: 28,125,853	D91E	probably benign	Het
Havcr1	C	A	11: 46,752,507	H85N	probably benign	Het
Il12rb1	G	A	8: 70,813,372		probably null	Het
Kif3a	A	G	11: 53,598,327	K117E	probably damaging	Het
Kitl	T	A	10: 100,087,438	F15L	probably benign	Het
Ktn1	T	G	14: 47,695,507	L706R	probably damaging	Het
Lipg	T	C	18: 74,948,047	Y321C	probably damaging	Het
Mapk8ip3	T	C	17: 24,903,059	D710G	probably benign	Het
Mb21d1	A	T	9: 78,435,556	S321R	probably damaging	Het
Mchr1	A	G	15: 81,235,820	N16S	probably benign	Het
Myadml2	A	T	11: 120,647,727	L94*	probably null	Het
Npr3	C	A	15: 11,848,563	M439I	probably benign	Het
Obscn	A	G	11: 59,003,648	I6677T	unknown	Het
Ogn	A	C	13: 49,621,044	D221A	probably benign	Het
Olfr889	T	C	9: 38,115,934	I46T	probably benign	Het
Pard3b	C	A	1: 62,637,894	Q1195K	probably damaging	Het
Pcsk4	T	C	10: 80,321,951	E608G	probably benign	Het
Pdlim1	T	C	19: 40,223,072	D259G	probably benign	Het
Per1	T	C	11: 69,103,627	S526P	probably damaging	Het
Pfkfb2	A	G	1: 130,706,472	V156A	probably damaging	Het
Ppp4r3a	A	T	12: 101,055,822	D307E	probably damaging	Het
Rims4	T	C	2: 163,879,122	S70G	probably damaging	Het
Rnf213	T	C	11: 119,441,839	F2625L	probably benign	Het
Sap130	T	C	18: 31,666,472	L334P	probably damaging	Het
Slc16a10	T	C	10: 40,076,800	I233V	probably benign	Het
Slc16a7	A	C	10: 125,230,922	F283V	possibly damaging	Het
Slc25a24	T	C	3: 109,136,270	M81T	probably benign	Het
Slc30a9	A	G	5: 67,326,921	R134G	probably damaging	Het
Slc35d3	G	T	10: 19,850,737	L96M	probably damaging	Het
Slc7a11	C	T	3: 50,381,896	G333D	probably damaging	Het
Stam	T	C	2: 14,141,828	S446P	probably benign	Het
Stk38	T	A	17: 28,979,232	N248I	possibly damaging	Het
Tle6	A	C	10: 81,595,385	S221A	probably benign	Het
Tmprss11b	G	A	5: 86,661,631	T334I	probably benign	Het
Tmprss11c	T	A	5: 86,289,260	M1L	possibly damaging	Het
Tpm1	T	C	9: 67,023,429	H262R	probably benign	Het
Tspan33	T	C	6: 29,711,082	S118P	possibly damaging	Het
Tyk2	A	G	9: 21,107,922	V1068A	probably damaging	Het
Ubr2	T	C	17: 46,972,951	I591V	probably benign	Het
Utp20	A	T	10: 88,764,737	Y38*	probably null	Het
Zfp608	T	C	18: 54,898,054	Y938C	probably damaging	Het

Other mutations in Vmn1r217

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03404:Vmn1r217	APN	13	23114640	missense	probably benign	0.10
R0147:Vmn1r217	UTSW	13	23113937	missense	probably benign
R0325:Vmn1r217	UTSW	13	23114594	missense	probably damaging	1.00
R1249:Vmn1r217	UTSW	13	23114648	missense	probably benign	0.01
R1777:Vmn1r217	UTSW	13	23114325	missense	probably benign	0.03
R2061:Vmn1r217	UTSW	13	23114528	missense	probably benign	0.19
R2168:Vmn1r217	UTSW	13	23114544	nonsense	probably null
R3122:Vmn1r217	UTSW	13	23114079	missense	probably damaging	1.00
R4832:Vmn1r217	UTSW	13	23113989	missense	probably damaging	1.00
R6500:Vmn1r217	UTSW	13	23113903	nonsense	probably null
R6623:Vmn1r217	UTSW	13	23114676	missense	possibly damaging	0.65
R6909:Vmn1r217	UTSW	13	23113938	missense	probably benign
R7708:Vmn1r217	UTSW	13	23114099	missense	probably benign	0.01
R8223:Vmn1r217	UTSW	13	23114199	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- AGAAGCCCATCCCTGTGAATCAGC -3'
(R):5'- TCTGCTTGCAAAAGGATTGCAAAAGAC -3'

Sequencing Primer
(F):5'- TCAAGGAACTGTCTCCCAGTG -3'
(R):5'- AACTTCCTGGATGACATAGGCTG -3'

Posted On

2014-04-13