Mutagenetix > Incidental Mutation

Incidental Mutation 'R6942:Vmn1r43'

540594

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r43

Ensembl Gene

ENSMUSG00000068231

Gene Name

vomeronasal 1 receptor 43

Synonyms

V1ra5

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R6942 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89858934-89876413 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89870337 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 56 (I56F)

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: I56F

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000086839
Gene: ENSMUSG00000068231
AA Change: I56F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000226741
AA Change: I56F

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

Predicted Effect

probably benign
Transcript: ENSMUST00000226983
AA Change: I56F

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

Predicted Effect

probably benign
Transcript: ENSMUST00000227279

Predicted Effect

probably benign
Transcript: ENSMUST00000228709
AA Change: I56F

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 98.9%
20x: 96.2%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930444G20Rik	A	T	10: 22,067,261	D273E	probably benign	Het
Acacb	T	C	5: 114,191,963		probably null	Het
Adap2	A	G	11: 80,155,065	D57G	probably benign	Het
Atmin	G	T	8: 116,956,713	V371F	probably benign	Het
Cacna1h	G	T	17: 25,385,039	A1273E	probably benign	Het
Cdh23	G	A	10: 60,438,856	T483I	possibly damaging	Het
Cnot9	T	A	1: 74,518,995	V100E	probably damaging	Het
Cog2	T	A	8: 124,545,136	V463D	probably benign	Het
Crybg3	C	T	16: 59,539,820	R2500H	possibly damaging	Het
Cyp11b2	G	A	15: 74,856,245		probably benign	Het
Cyp2j12	A	T	4: 96,112,864		probably null	Het
Dlc1	T	C	8: 36,938,210	K142E	probably benign	Het
Dpp6	G	A	5: 27,469,459	V140M	possibly damaging	Het
Fam69c	A	C	18: 84,730,424	Y49S	possibly damaging	Het
Fktn	G	A	4: 53,735,128		probably null	Het
Gas7	A	T	11: 67,660,151		probably null	Het
Grin3b	T	A	10: 79,976,119		probably null	Het
Hhatl	G	A	9: 121,788,180	A329V	probably benign	Het
Homer3	C	T	8: 70,291,551	T276I	probably benign	Het
Igdcc4	G	A	9: 65,120,268	S204N	probably benign	Het
Ino80	A	G	2: 119,383,502	F1196L	probably damaging	Het
Iqsec3	C	T	6: 121,473,103	C154Y	probably damaging	Het
Kank1	A	T	19: 25,424,173	D1048V	possibly damaging	Het
Kif2c	A	G	4: 117,166,378	L379P	probably damaging	Het
Kpna6	A	T	4: 129,651,721		probably null	Het
Large2	C	T	2: 92,370,822	R28H	probably damaging	Het
Map4k2	T	A	19: 6,346,709	W552R	possibly damaging	Het
Mark3	A	G	12: 111,592,654	I43M	probably null	Het
Med13l	C	A	5: 118,745,006		probably null	Het
Mtbp	T	A	15: 55,567,200	Y218N	probably damaging	Het
Olfr669	C	T	7: 104,938,897	R124C	possibly damaging	Het
Pcdhgb5	T	C	18: 37,732,643	L497P	probably damaging	Het
Pkhd1l1	A	G	15: 44,522,629	T1221A	probably damaging	Het
Pth1r	C	T	9: 110,728,016		probably null	Het
Samd8	T	C	14: 21,775,153	I59T	possibly damaging	Het
Scgb2b18	A	G	7: 33,172,139	V85A	possibly damaging	Het
Sema6c	G	T	3: 95,173,208	V906L	probably benign	Het
Serpinb9g	A	T	13: 33,494,905	T253S	probably benign	Het
Sipa1l3	T	C	7: 29,386,091	T694A	probably damaging	Het
Slc8a1	A	G	17: 81,408,120	L828P	probably damaging	Het
Spry1	T	A	3: 37,643,044	D145E	probably benign	Het
Stat6	A	T	10: 127,651,262	N213Y	probably damaging	Het
Tep1	A	G	14: 50,836,737	V1897A	possibly damaging	Het
Tmem45a	T	C	16: 56,825,782	N25S	probably benign	Het
Tmem70	T	A	1: 16,677,156	Y166N	probably damaging	Het
Trrap	T	A	5: 144,784,043	I230N	possibly damaging	Het
Ttn	A	G	2: 76,901,846		probably benign	Het
Unc79	T	A	12: 103,122,445		probably null	Het
Zfyve16	A	T	13: 92,516,631	N815K	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
R4419:Vmn1r43	UTSW	6	89869647	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
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'- AACATGCTGGTGGTGCAAAG -3'
(R):5'- CATGGCTCAGCTTAGGACAG -3'

Sequencing Primer
(F):5'- TGGTGCAAAGGGAGAGACC -3'
(R):5'- TCAGCTTAGGACAGGTGAGATGATC -3'

Posted On

2018-11-06