Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03085:Vmn1r218'

418032

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vmn1r218

Ensembl Gene

ENSMUSG00000115020

Gene Name

vomeronasal 1 receptor 218

Synonyms

V1ri5

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.321) question?

Stock #

IGL03085

Quality Score

Status

Chromosome

Chromosomal Location

23133155-23146112 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23137311 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 196 (Y196F)

Ref Sequence

ENSEMBL: ENSMUSP00000154769 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074992] [ENSMUST00000226692] [ENSMUST00000227050] [ENSMUST00000227160] [ENSMUST00000227741]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074992
AA Change: Y276F

PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000074519
Gene: ENSMUSG00000115020
AA Change: Y276F

Domain	Start	End	E-Value	Type
Pfam:TAS2R	1	288	2e-7	PFAM
Pfam:V1R	33	297	5.4e-41	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226692
AA Change: Y276F

PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227050
AA Change: Y276F

PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227160
AA Change: Y196F

PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227741
AA Change: Y196F

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228348

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	A	T	14: 63,971,432	H230Q	probably benign	Het
Aagab	T	A	9: 63,639,034		probably benign	Het
Actl11	G	T	9: 107,929,550	K357N	probably damaging	Het
Aktip	A	G	8: 91,126,023		probably null	Het
Amtn	A	G	5: 88,381,642		probably benign	Het
Arhgap21	T	A	2: 20,914,721	M58L	probably benign	Het
Art2b	T	A	7: 101,580,578	Y38F	probably damaging	Het
Asb10	T	C	5: 24,539,603		probably benign	Het
Atm	A	T	9: 53,484,171	D1699E	possibly damaging	Het
Azi2	A	C	9: 118,059,146	K259T	probably damaging	Het
Bcas3	A	G	11: 85,476,783	D77G	probably damaging	Het
Birc6	G	A	17: 74,596,950	R1246H	probably damaging	Het
Cdh13	C	A	8: 119,288,724	D559E	probably damaging	Het
Chrm3	C	T	13: 9,877,534	A489T	probably damaging	Het
Ckap2l	A	T	2: 129,285,047	Y404N	probably benign	Het
Col18a1	A	G	10: 77,059,181		probably benign	Het
Col4a1	T	A	8: 11,222,198	K731*	probably null	Het
Corin	A	T	5: 72,353,930	C360S	probably damaging	Het
Cyp1a1	A	C	9: 57,701,712	H292P	possibly damaging	Het
Dennd5b	A	G	6: 149,027,395	V760A	probably damaging	Het
Dhx57	T	C	17: 80,258,097	D842G	possibly damaging	Het
Emp2	C	A	16: 10,288,046		probably benign	Het
Eral1	G	A	11: 78,078,267	R136C	probably damaging	Het
Fat2	T	A	11: 55,283,246	M2214L	probably benign	Het
Flnb	G	A	14: 7,882,211	R304H	probably benign	Het
G6pd2	A	T	5: 61,810,302	E473D	probably benign	Het
Gpx8	A	G	13: 113,043,261	Y169H	probably damaging	Het
Ighv1-64	A	G	12: 115,507,841	S19P	possibly damaging	Het
Ikbkb	G	T	8: 22,682,786	N139K	probably benign	Het
Inpp5b	A	T	4: 124,792,322	T720S	probably benign	Het
Kmt2d	C	A	15: 98,839,940		probably benign	Het
Lrig2	G	A	3: 104,467,259	P169S	probably damaging	Het
Magi3	T	A	3: 104,015,339	K1354I	possibly damaging	Het
Mapk9	A	T	11: 49,867,038	D103V	probably damaging	Het
Mrpl46	A	T	7: 78,781,585	I75N	probably damaging	Het
Olfr402	T	A	11: 74,155,685	I177N	probably damaging	Het
Olfr890	A	G	9: 38,143,183	E16G	probably damaging	Het
Olfr926	G	A	9: 38,877,663	M162I	probably benign	Het
Otog	G	T	7: 46,305,922		probably null	Het
Pex11a	A	G	7: 79,737,775	L103P	probably damaging	Het
Pnpla8	A	G	12: 44,311,522	T687A	probably benign	Het
Ppm1d	A	G	11: 85,337,163	I302V	probably null	Het
Prdm11	C	A	2: 92,974,959	V549F	possibly damaging	Het
Prss54	G	A	8: 95,565,630	P107L	probably benign	Het
Rasa3	T	A	8: 13,585,690	N422I	probably benign	Het
Rbm27	T	C	18: 42,327,524		probably benign	Het
Rpl13-ps3	A	T	14: 58,893,707		noncoding transcript	Het
Rps6ka2	G	A	17: 7,295,280		probably null	Het
Sphkap	T	A	1: 83,280,354	I223F	possibly damaging	Het
Srm	T	C	4: 148,593,381	F159L	probably damaging	Het
Stt3a	A	G	9: 36,732,970		probably benign	Het
Tacr3	T	C	3: 134,932,266	S395P	possibly damaging	Het
Tecpr2	A	G	12: 110,954,826		probably benign	Het
Tmub1	C	T	5: 24,446,098	G188S	probably damaging	Het
Trim66	T	A	7: 109,458,745	I877F	probably benign	Het
Ubr5	T	C	15: 38,029,568	E471G	probably damaging	Het
Vmn2r89	T	A	14: 51,452,158	D39E	probably damaging	Het
Wee1	C	A	7: 110,124,598	P240Q	probably damaging	Het
Zc3h12a	A	T	4: 125,127,020	V10D	probably benign	Het
Zzef1	T	C	11: 72,855,524		probably benign	Het

Other mutations in Vmn1r218

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02014:Vmn1r218	APN	13	23136831	missense	probably damaging	0.97
IGL02670:Vmn1r218	APN	13	23137004	missense	probably benign	0.01
IGL03334:Vmn1r218	APN	13	23136618	missense	probably damaging	1.00
R0049:Vmn1r218	UTSW	13	23137055	nonsense	probably null
R0049:Vmn1r218	UTSW	13	23137055	nonsense	probably null
R1387:Vmn1r218	UTSW	13	23137308	missense	probably damaging	1.00
R1959:Vmn1r218	UTSW	13	23136513	missense	probably damaging	0.96
R3713:Vmn1r218	UTSW	13	23136911	missense	probably damaging	1.00
R3714:Vmn1r218	UTSW	13	23136911	missense	probably damaging	1.00
R4037:Vmn1r218	UTSW	13	23136801	missense	possibly damaging	0.91
R4038:Vmn1r218	UTSW	13	23136801	missense	possibly damaging	0.91
R4039:Vmn1r218	UTSW	13	23136801	missense	possibly damaging	0.91
R4432:Vmn1r218	UTSW	13	23137242	missense	possibly damaging	0.87
R5255:Vmn1r218	UTSW	13	23136711	missense	possibly damaging	0.92
R5521:Vmn1r218	UTSW	13	23136573	missense	probably benign	0.01
R7384:Vmn1r218	UTSW	13	23136725	missense	probably benign	0.00
R7565:Vmn1r218	UTSW	13	23136660	missense	probably benign	0.05
R8178:Vmn1r218	UTSW	13	23137302	missense	probably benign	0.08
R8536:Vmn1r218	UTSW	13	23137365	missense	probably benign	0.00

Posted On

2016-08-02