Mutagenetix > Incidental Mutations

Incidental Mutation 'R5255:Vmn1r218'

399515

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r218

Ensembl Gene

ENSMUSG00000115020

Gene Name

vomeronasal 1 receptor 218

Synonyms

V1ri5

MMRRC Submission

042826-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.248) question?

Stock #

R5255 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23133155-23146112 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23136711 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 76 (D76V)

Ref Sequence

ENSEMBL: ENSMUSP00000154543 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074992
AA Change: D76V

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000074519
Gene: ENSMUSG00000115020
AA Change: D76V

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: D76V

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227050
AA Change: D76V

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000227160

Predicted Effect

probably benign
Transcript: ENSMUST00000227741

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228348

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	A	T	17: 33,066,765	C354*	probably null	Het
Abcf1	A	T	17: 35,959,737		probably null	Het
Abr	T	A	11: 76,455,683	E434V	probably damaging	Het
Acaca	T	A	11: 84,311,307	L197Q	probably damaging	Het
Acot10	A	G	15: 20,665,932	I241T	probably benign	Het
Acp6	T	C	3: 97,167,996	V182A	probably benign	Het
Ahnak2	G	A	12: 112,773,378	T1420I	possibly damaging	Het
Akr1c6	A	T	13: 4,447,019	K153N	probably benign	Het
Ank3	T	C	10: 69,885,200	L600P	probably damaging	Het
Arhgef1	G	A	7: 24,925,022	A824T	probably damaging	Het
B230307C23Rik	T	A	16: 98,008,691	N22K	possibly damaging	Het
Btn1a1	A	G	13: 23,464,154		probably benign	Het
Cenpf	G	A	1: 189,672,627	T352I	possibly damaging	Het
Ces4a	C	A	8: 105,142,489	F185L	probably benign	Het
Clybl	A	C	14: 122,384,279	E293A	probably benign	Het
Cobl	A	G	11: 12,375,825	W217R	probably damaging	Het
D430041D05Rik	T	C	2: 104,256,600	N677S	probably benign	Het
Ddx51	C	A	5: 110,656,042	T390N	possibly damaging	Het
Drd5	T	G	5: 38,319,967	V101G	probably damaging	Het
Elmo3	C	T	8: 105,307,353	P244L	probably benign	Het
Esrrg	G	A	1: 188,146,358	R189H	probably damaging	Het
Fxr2	A	G	11: 69,643,841	T183A	probably benign	Het
Gjd4	T	C	18: 9,280,613	H155R	probably benign	Het
Hivep2	T	A	10: 14,131,267		probably null	Het
Ints10	T	C	8: 68,793,972		probably benign	Het
Kank4	T	C	4: 98,778,972	T413A	probably benign	Het
Mapkbp1	T	C	2: 120,017,254	V568A	probably damaging	Het
Mobp	A	G	9: 120,168,353		probably benign	Het
Mpst	A	G	15: 78,410,508	S147G	probably benign	Het
Myo5b	A	T	18: 74,662,670	Y559F	possibly damaging	Het
Nceh1	T	C	3: 27,183,139	I21T	probably damaging	Het
Olfr1303	T	C	2: 111,814,178	K183E	probably benign	Het
Ralgps1	A	T	2: 33,276,159	V126E	probably damaging	Het
Rnls	A	G	19: 33,382,423	V115A	probably damaging	Het
Scn1a	A	T	2: 66,277,669	V1554D	probably damaging	Het
Slc16a11	T	A	11: 70,215,432	D165E	probably damaging	Het
Slc16a5	A	G	11: 115,462,675	T23A	probably benign	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Slc3a1	A	T	17: 85,028,453		probably null	Het
Slitrk6	A	T	14: 110,749,753	*841K	probably null	Het
Syngr1	A	G	15: 80,091,446	Y18C	possibly damaging	Het
Tarbp1	T	G	8: 126,428,970	D1343A	probably benign	Het
Vac14	T	A	8: 110,634,329	I177N	probably damaging	Het
Wdr75	T	A	1: 45,799,117	I62N	probably damaging	Het
Zfp12	A	T	5: 143,240,379	I68L	probably null	Het
Zswim8	T	A	14: 20,721,651	Y1551N	probably damaging	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
IGL03085:Vmn1r218	APN	13	23137311	missense	possibly damaging	0.76
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
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

Predicted Primers

PCR Primer
(F):5'- TTCTCTAGCTGGACCTGGAG -3'
(R):5'- GCAAGTTGGAGCTTATGAGAAC -3'

Sequencing Primer
(F):5'- CTGGACCTGGAGTTGTAGGAAATATC -3'
(R):5'- GGAGCTTATGAGAACATTAACAATCC -3'

Posted On

2016-07-06