Mutagenetix > Incidental Mutation

Incidental Mutation 'R4419:Vmn1r43'

326995

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r43

Ensembl Gene

ENSMUSG00000068231

Gene Name

vomeronasal 1 receptor 43

Synonyms

V1ra5

MMRRC Submission

041140-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R4419 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89858934-89876413 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89869647 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 286 (S286P)

Ref Sequence

ENSEMBL: ENSMUSP00000154510 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089418] [ENSMUST00000226741] [ENSMUST00000226983] [ENSMUST00000227279] [ENSMUST00000228709]

AlphaFold

Q8VIC9

Predicted Effect

probably benign
Transcript: ENSMUST00000089418
AA Change: S286P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000086839
Gene: ENSMUSG00000068231
AA Change: S286P

Domain	Start	End	E-Value	Type
Pfam:V1R	54	318	2.9e-126	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226240

Predicted Effect

probably benign
Transcript: ENSMUST00000226741
AA Change: S286P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000226983
AA Change: S286P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000227279

Predicted Effect

probably benign
Transcript: ENSMUST00000228709
AA Change: S286P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amdhd2	G	A	17: 24,158,678	P126L	probably benign	Het
Arfip2	T	C	7: 105,639,063	T44A	probably damaging	Het
B4galt1	A	G	4: 40,853,537	V90A	probably benign	Het
Bad	C	A	19: 6,950,685	A115E	probably benign	Het
Bicc1	A	G	10: 70,946,974	L521P	possibly damaging	Het
Caskin1	T	C	17: 24,504,709	S824P	probably damaging	Het
Cblb	T	A	16: 52,047,258	D76E	possibly damaging	Het
Celsr3	G	T	9: 108,843,244	A2572S	possibly damaging	Het
Csmd3	T	C	15: 47,704,311	Q2152R	probably damaging	Het
D2hgdh	T	A	1: 93,829,813	V150E	probably damaging	Het
Ddn	C	A	15: 98,805,611	W600L	probably benign	Het
Dicer1	A	T	12: 104,705,114	Y966N	probably damaging	Het
Dsp	T	A	13: 38,195,132	I1352N	probably damaging	Het
Duox1	G	A	2: 122,327,126	A578T	probably benign	Het
Dysf	T	C	6: 84,207,242		probably null	Het
Elmo2	T	C	2: 165,311,755		probably null	Het
Heg1	A	T	16: 33,727,435	E864V	probably benign	Het
Hoxb9	T	C	11: 96,271,981	V147A	probably benign	Het
Kdm1b	C	T	13: 47,063,077	R308W	probably damaging	Het
Ky	G	A	9: 102,542,710	V639I	probably damaging	Het
Med16	G	A	10: 79,898,382	A566V	probably benign	Het
Mettl17	G	T	14: 51,887,272	G167C	possibly damaging	Het
Mgat4b	T	C	11: 50,232,986	F318L	probably damaging	Het
Mug2	C	A	6: 122,079,630	A1178D	probably damaging	Het
Myo3b	A	G	2: 70,096,362	D51G	probably damaging	Het
Naip2	T	C	13: 100,160,625	N968D	probably benign	Het
Nbea	T	C	3: 56,009,600	H820R	probably damaging	Het
Nqo1	C	T	8: 107,392,117		probably null	Het
Olfr1328	A	T	4: 118,934,389	I153N	possibly damaging	Het
Olfr780	T	C	10: 129,321,815	F64S	possibly damaging	Het
Olfr916	C	T	9: 38,658,069	V108I	probably benign	Het
Ppargc1a	T	C	5: 51,494,702	D218G	probably damaging	Het
Rras	A	G	7: 45,020,579	D145G	probably damaging	Het
Scn3a	C	A	2: 65,466,960	G1452C	probably damaging	Het
Slc22a2	C	A	17: 12,612,586	S421*	probably null	Het
Slc39a10	A	G	1: 46,810,066	F797L	probably benign	Het
Spta1	T	A	1: 174,247,424	Y2405*	probably null	Het
Ss18	A	G	18: 14,633,605	Y359H	unknown	Het
St14	C	T	9: 31,096,928	C537Y	probably damaging	Het
Tmem252	T	A	19: 24,677,546	Y96N	probably damaging	Het
Trafd1	T	C	5: 121,373,333	D474G	probably benign	Het
Trmt1l	A	G	1: 151,440,808	I20M	probably damaging	Het
Ulk1	C	T	5: 110,789,357	R691Q	probably benign	Het

Other mutations in Vmn1r43

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01748:Vmn1r43	APN	6	89870312	missense	probably damaging	1.00
IGL02476:Vmn1r43	APN	6	89870061	missense	possibly damaging	0.95
IGL02958:Vmn1r43	APN	6	89870049	missense	probably benign	0.09
R0413:Vmn1r43	UTSW	6	89869848	missense	probably damaging	1.00
R1662:Vmn1r43	UTSW	6	89869590	missense	possibly damaging	0.76
R1668:Vmn1r43	UTSW	6	89869701	missense	probably benign	0.01
R4719:Vmn1r43	UTSW	6	89869855	missense	probably benign	0.02
R4798:Vmn1r43	UTSW	6	89869910	missense	probably benign	0.01
R5520:Vmn1r43	UTSW	6	89869746	missense	probably damaging	0.98
R5643:Vmn1r43	UTSW	6	89870372	missense	probably damaging	1.00
R5644:Vmn1r43	UTSW	6	89870372	missense	probably damaging	1.00
R5717:Vmn1r43	UTSW	6	89869923	missense	probably damaging	1.00
R6647:Vmn1r43	UTSW	6	89869859	missense	probably damaging	1.00
R6914:Vmn1r43	UTSW	6	89870337	missense	probably benign	0.02
R6942:Vmn1r43	UTSW	6	89870337	missense	probably benign	0.02
R7092:Vmn1r43	UTSW	6	89869903	missense	probably benign	0.02
R7402:Vmn1r43	UTSW	6	89869821	missense	probably benign	0.02
R7457:Vmn1r43	UTSW	6	89870190	missense	probably damaging	0.98
R7572:Vmn1r43	UTSW	6	89869565	missense	possibly damaging	0.93
R7807:Vmn1r43	UTSW	6	89870237	missense	probably benign	0.07
R8406:Vmn1r43	UTSW	6	89870432	missense	possibly damaging	0.55
R8696:Vmn1r43	UTSW	6	89870339	missense	probably damaging	0.99
R8859:Vmn1r43	UTSW	6	89869955	missense	probably damaging	1.00
R8894:Vmn1r43	UTSW	6	89869764	missense	probably benign	0.02
R9072:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9073:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9075:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9076:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9237:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9239:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9240:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9293:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9383:Vmn1r43	UTSW	6	89869570	missense	possibly damaging	0.94
R9398:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9399:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9401:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9402:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9594:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9595:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9596:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9624:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9628:Vmn1r43	UTSW	6	89869895	missense	probably damaging	1.00
R9656:Vmn1r43	UTSW	6	89870458	missense	possibly damaging	0.47
X0020:Vmn1r43	UTSW	6	89870334	missense	probably benign	0.00
Z1177:Vmn1r43	UTSW	6	89870485	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATTTGGCAAAGCACATAGACAGC -3'
(R):5'- GGCCCTTTTATGCATGCAC -3'

Sequencing Primer
(F):5'- CATGCTATGAATGACAATTCCGACGG -3'
(R):5'- CCTTTTATGCATGCACAGGAAACAG -3'

Posted On

2015-07-07