Mutagenetix > Incidental Mutation

Incidental Mutation 'R3084:Vmn1r178'

265529

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r178

Ensembl Gene

ENSMUSG00000062598

Gene Name

vomeronasal 1 receptor 178

Synonyms

V1rd13, LOC232959

MMRRC Submission

040573-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R3084 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23592954-23593868 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23593331 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 126 (I126M)

Ref Sequence

ENSEMBL: ENSMUSP00000154244 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078593] [ENSMUST00000226450] [ENSMUST00000226489] [ENSMUST00000226640] [ENSMUST00000227993]

AlphaFold

Q8R2B6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078593
AA Change: I126M

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000077666
Gene: ENSMUSG00000062598
AA Change: I126M

Domain	Start	End	E-Value	Type
Pfam:TAS2R	8	297	7.9e-11	PFAM
Pfam:7tm_1	15	283	2.5e-7	PFAM
Pfam:V1R	41	296	7.8e-19	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226450
AA Change: I126M

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000226489
AA Change: I53M

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000226640
AA Change: I53M

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227993
AA Change: I126M

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra3	A	T	5: 50,170,733 (GRCm39)		probably null	Het
Alms1	A	G	6: 85,655,122 (GRCm39)	R3223G	probably benign	Het
Arhgef26	T	C	3: 62,285,037 (GRCm39)	V431A	probably benign	Het
Cabyr	T	C	18: 12,884,023 (GRCm39)	V170A	probably damaging	Het
Cenpe	A	G	3: 134,946,782 (GRCm39)	E1099G	probably damaging	Het
Creb3l1	G	T	2: 91,825,789 (GRCm39)		probably null	Het
Cyp2c38	T	C	19: 39,390,145 (GRCm39)	I352V	probably benign	Het
Dhrs2	G	T	14: 55,477,301 (GRCm39)	V179L	probably benign	Het
Dhx9	T	C	1: 153,341,445 (GRCm39)	D601G	probably benign	Het
Dlg5	T	C	14: 24,216,258 (GRCm39)	T595A	probably damaging	Het
Fhip1a	T	A	3: 85,573,275 (GRCm39)		probably null	Het
Frk	G	A	10: 34,483,950 (GRCm39)	G437D	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Gm5699	G	T	1: 31,037,873 (GRCm39)		noncoding transcript	Het
Gsg1l	C	T	7: 125,490,852 (GRCm39)	R284H	probably benign	Het
Ifit3	A	T	19: 34,564,640 (GRCm39)	H62L	probably damaging	Het
Krt34	T	C	11: 99,931,847 (GRCm39)	N124S	probably damaging	Het
Megf8	T	A	7: 25,048,444 (GRCm39)	Y1706N	probably damaging	Het
Mmd	C	T	11: 90,156,911 (GRCm39)	R129C	probably damaging	Het
Or4f60	C	A	2: 111,902,320 (GRCm39)	G203*	probably null	Het
Or4k36	A	G	2: 111,146,461 (GRCm39)	I212M	probably benign	Het
Pde6d	T	C	1: 86,475,248 (GRCm39)		probably null	Het
Pomt1	G	T	2: 32,134,252 (GRCm39)	V258L	probably benign	Het
Ppp2r5e	T	C	12: 75,515,390 (GRCm39)	I215V	probably benign	Het
Ranbp10	A	T	8: 106,501,263 (GRCm39)	L329Q	probably damaging	Het
Robo1	T	A	16: 72,801,625 (GRCm39)	L1083Q	probably benign	Het
Rsph4a	G	C	10: 33,785,198 (GRCm39)	V370L	probably damaging	Het
Smarcc2	T	C	10: 128,324,028 (GRCm39)		probably benign	Het
Sun1	T	C	5: 139,221,356 (GRCm39)	V357A	probably benign	Het
Svop	T	C	5: 114,180,299 (GRCm39)	T283A	probably benign	Het
Tep1	A	T	14: 51,064,511 (GRCm39)		probably null	Het
Tet1	T	C	10: 62,715,400 (GRCm39)	K132E	probably benign	Het
Tex15	A	T	8: 34,064,913 (GRCm39)	N1448Y	probably benign	Het
Tktl2	T	A	8: 66,965,858 (GRCm39)	M472K	possibly damaging	Het
Tnrc6b	T	G	15: 80,764,448 (GRCm39)	L650W	probably damaging	Het
Ttf2	C	T	3: 100,855,580 (GRCm39)	G872R	possibly damaging	Het
Vmn1r17	A	G	6: 57,337,768 (GRCm39)	V199A	probably damaging	Het
Vmn2r85	T	C	10: 130,261,081 (GRCm39)	M419V	probably benign	Het
Washc2	A	G	6: 116,204,454 (GRCm39)	N454S	probably benign	Het
Xirp2	T	G	2: 67,339,393 (GRCm39)	F545V	probably damaging	Het
Zfyve26	G	T	12: 79,312,457 (GRCm39)		probably benign	Het

Other mutations in Vmn1r178

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01697:Vmn1r178	APN	7	23,593,114 (GRCm39)	missense	probably damaging	0.99
IGL01781:Vmn1r178	APN	7	23,593,434 (GRCm39)	missense	probably damaging	1.00
IGL01934:Vmn1r178	APN	7	23,593,362 (GRCm39)	missense	probably damaging	1.00
IGL02571:Vmn1r178	APN	7	23,593,660 (GRCm39)	missense	probably damaging	0.99
IGL02727:Vmn1r178	APN	7	23,593,871 (GRCm39)	splice site	probably null
IGL03112:Vmn1r178	APN	7	23,593,086 (GRCm39)	missense	probably damaging	1.00
R0112:Vmn1r178	UTSW	7	23,593,609 (GRCm39)	missense	possibly damaging	0.93
R0830:Vmn1r178	UTSW	7	23,593,452 (GRCm39)	missense	possibly damaging	0.91
R1186:Vmn1r178	UTSW	7	23,593,317 (GRCm39)	nonsense	probably null
R1340:Vmn1r178	UTSW	7	23,593,281 (GRCm39)	missense	probably benign	0.34
R1640:Vmn1r178	UTSW	7	23,593,548 (GRCm39)	missense	possibly damaging	0.70
R1696:Vmn1r178	UTSW	7	23,593,625 (GRCm39)	missense	probably damaging	0.99
R1746:Vmn1r178	UTSW	7	23,593,329 (GRCm39)	missense	probably benign	0.00
R4368:Vmn1r178	UTSW	7	23,593,447 (GRCm39)	missense	probably damaging	1.00
R5199:Vmn1r178	UTSW	7	23,593,814 (GRCm39)	missense	probably benign	0.11
R6380:Vmn1r178	UTSW	7	23,592,984 (GRCm39)	missense	possibly damaging	0.62
R7000:Vmn1r178	UTSW	7	23,593,762 (GRCm39)	missense	probably benign	0.21
R7142:Vmn1r178	UTSW	7	23,593,035 (GRCm39)	missense	probably damaging	1.00
R7268:Vmn1r178	UTSW	7	23,593,378 (GRCm39)	missense	probably benign	0.05
R8829:Vmn1r178	UTSW	7	23,593,264 (GRCm39)	missense	probably damaging	1.00
R8832:Vmn1r178	UTSW	7	23,593,264 (GRCm39)	missense	probably damaging	1.00
R9068:Vmn1r178	UTSW	7	23,593,404 (GRCm39)	missense	probably damaging	1.00
R9798:Vmn1r178	UTSW	7	23,593,733 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCCCAGACAGTTGATTTTAAGCC -3'
(R):5'- TGCCTACACTGAATCCAGAAGTG -3'

Sequencing Primer
(F):5'- ACATGTCTGTGGCCAATGC -3'
(R):5'- TCCAGAAGTGAAACAGAACAACTTG -3'

Posted On

2015-02-05