Mutagenetix > Incidental Mutations

Incidental Mutation 'R4432:Vmn1r218'

328666

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r218

Ensembl Gene

ENSMUSG00000115020

Gene Name

vomeronasal 1 receptor 218

Synonyms

V1ri5

MMRRC Submission

041701-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

R4432 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23133155-23146112 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23137242 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 173 (F173S)

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: F253S

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000074519
Gene: ENSMUSG00000115020
AA Change: F253S

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: F253S

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227050
AA Change: F253S

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227160
AA Change: F173S

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227741
AA Change: F173S

PolyPhen 2 Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228348

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430573F11Rik	A	T	8: 36,498,478	I51F	probably damaging	Het
Abca6	T	C	11: 110,241,588	M294V	probably benign	Het
Abcc5	A	T	16: 20,368,187		probably null	Het
Acsm4	A	C	7: 119,711,387	E499A	probably damaging	Het
Adamtsl4	T	C	3: 95,681,759		probably null	Het
Ank2	A	T	3: 126,947,806		probably benign	Het
Anks6	G	A	4: 47,044,905	Q334*	probably null	Het
Cadps2	T	A	6: 23,626,738	I155L	probably damaging	Het
Casp4	G	A	9: 5,323,653	R74H	probably damaging	Het
Cdk14	A	G	5: 5,036,427	W298R	probably damaging	Het
Chia1	A	G	3: 106,115,325	N12D	probably benign	Het
Cyp3a59	A	G	5: 146,104,786	D380G	probably benign	Het
Dnm2	T	C	9: 21,491,304		probably benign	Het
Dnm3	T	C	1: 161,991,997		probably benign	Het
Dpp4	A	G	2: 62,345,112	Y660H	probably damaging	Het
Fam92b	C	A	8: 120,174,855	R37L	probably damaging	Het
H6pd	T	G	4: 149,995,758	Y202S	probably damaging	Het
Hnrnpa0	T	C	13: 58,127,937	K126R	probably benign	Het
Insc	C	T	7: 114,769,055		probably benign	Het
Lrrc45	G	A	11: 120,715,221		probably null	Het
Mapkap1	T	C	2: 34,619,863	L263P	probably damaging	Het
Nmur1	A	G	1: 86,387,565	S160P	probably damaging	Het
Olfr1254	A	T	2: 89,788,734	M206K	possibly damaging	Het
Olfr1288	T	A	2: 111,479,412	C209*	probably null	Het
Pcdhb15	A	G	18: 37,475,512	N599S	probably damaging	Het
Pcid2	T	C	8: 13,085,421	D196G	probably damaging	Het
Pcolce2	T	C	9: 95,681,557	F199L	probably damaging	Het
Phf11c	A	T	14: 59,390,935	N88K	possibly damaging	Het
Prl8a8	T	A	13: 27,510,480	Y109F	probably benign	Het
Rasa2	A	G	9: 96,542,407		probably benign	Het
Samhd1	T	C	2: 157,104,893	D558G	probably damaging	Het
Slc1a1	T	C	19: 28,902,709	F263S	probably benign	Het
Slc27a3	G	A	3: 90,387,340	T408M	probably damaging	Het
Slc4a7	T	A	14: 14,757,323	N520K	probably damaging	Het
Szt2	A	G	4: 118,384,231	S1679P	probably damaging	Het
Vmn2r32	T	A	7: 7,479,919	N19Y	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
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

Predicted Primers

PCR Primer
(F):5'- AGAGTCTAATGGGCTGGAGC -3'
(R):5'- TCCCCAACCCTAGAATTCATTAAGG -3'

Sequencing Primer
(F):5'- CAGTGGGTCCATGGCTCTC -3'
(R):5'- AACCCTAGAATTCATTAAGGTAAAGC -3'

Posted On

2015-07-21