Mutagenetix > Incidental Mutations

Incidental Mutation 'R6133:Vmn2r43'

487232

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r43

Ensembl Gene

ENSMUSG00000053720

Gene Name

vomeronasal 2, receptor 43

Synonyms

EC2-V2R

MMRRC Submission

044280-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R6133 (G1)

Quality Score

89.0077

Status

Not validated

Chromosome

Chromosomal Location

8244348-8260599 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8244971 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 731 (F731S)

Ref Sequence

ENSEMBL: ENSMUSP00000069647 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066317]

Predicted Effect

probably damaging
Transcript: ENSMUST00000066317
AA Change: F731S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000069647
Gene: ENSMUSG00000053720
AA Change: F731S

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ANF_receptor	73	453	5.1e-35	PFAM
Pfam:NCD3G	496	549	7.7e-21	PFAM
Pfam:7tm_3	582	817	3e-56	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy7	A	G	8: 88,325,439	T912A	possibly damaging	Het
Akap12	G	T	10: 4,355,178	G663C	probably benign	Het
Akap2	C	T	4: 57,855,516	Q525*	probably null	Het
Ankhd1	T	C	18: 36,625,126	S958P	possibly damaging	Het
Cmtm2a	T	C	8: 104,292,730	I76V	probably benign	Het
Cpxm2	G	A	7: 132,128,453	P146S	probably damaging	Het
Cubn	A	G	2: 13,308,618	V3047A	probably benign	Het
Dgkd	T	A	1: 87,938,240	V198E	possibly damaging	Het
Dnah3	A	T	7: 120,086,246	M181K	probably benign	Het
Dnah7a	T	C	1: 53,419,655	T3775A	probably benign	Het
Dsg2	A	G	18: 20,590,089	I391V	probably benign	Het
Ebi3	T	A	17: 55,954,311	V69E	probably benign	Het
Fn1	T	C	1: 71,597,727	T1998A	probably damaging	Het
Frmpd1	T	A	4: 45,284,915	H1245Q	probably benign	Het
Gm7145	T	A	1: 117,985,888	C167S	probably damaging	Het
Hydin	C	T	8: 110,601,276	T4805I	probably benign	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Kcnma1	C	T	14: 24,003,868	M21I	probably damaging	Het
Lrfn5	A	G	12: 61,843,788	D621G	probably benign	Het
Lrrc15	C	T	16: 30,274,236	G95D	probably benign	Het
Mex3d	A	G	10: 80,386,786	L212P	probably damaging	Het
Mmel1	C	T	4: 154,895,018	H728Y	probably damaging	Het
Naip1	A	G	13: 100,444,643	V32A	probably benign	Het
Nsl1	T	C	1: 191,071,206	L158P	probably damaging	Het
Olfr638	A	T	7: 104,003,325	T17S	possibly damaging	Het
Olfr771	G	A	10: 129,160,883	L34F	possibly damaging	Het
Olfr883	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540		probably null	Het
Pcdh15	A	T	10: 74,645,973		probably null	Het
Pramef20	T	C	4: 144,377,777	R53G	possibly damaging	Het
Ptpn1	T	C	2: 167,967,796	V108A	possibly damaging	Het
Rad9b	T	C	5: 122,339,768	N182D	possibly damaging	Het
Rp1l1	C	T	14: 64,030,096	P1044S	probably damaging	Het
Scn2a	G	A	2: 65,743,104	V1433I	probably benign	Het
Ssrp1	T	G	2: 85,045,339		probably benign	Het
Suco	T	A	1: 161,835,183	K560*	probably null	Het
Tbx3	T	C	5: 119,680,953	V531A	probably benign	Het
Tmem30c	T	C	16: 57,277,737	Y107C	probably damaging	Het
Topbp1	T	A	9: 103,311,764		probably null	Het
Trpm5	A	T	7: 143,088,951	D86E	probably damaging	Het
Urb2	C	T	8: 124,028,561	Q336*	probably null	Het
Xkr9	A	G	1: 13,684,135	T118A	probably benign	Het
Zcchc2	A	C	1: 106,019,879	K117N	probably damaging	Het
Zfp52	T	C	17: 21,560,471	Y194H	probably damaging	Het
Zfp763	C	T	17: 33,018,701	C490Y	possibly damaging	Het
Zmynd19	G	T	2: 24,958,119	R148L	possibly damaging	Het

Other mutations in Vmn2r43

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01756:Vmn2r43	APN	7	8255584	missense	probably benign	0.00
IGL01777:Vmn2r43	APN	7	8255273	missense	probably damaging	1.00
IGL02096:Vmn2r43	APN	7	8257513	splice site	probably benign
IGL02429:Vmn2r43	APN	7	8255552	missense	probably benign	0.00
IGL03026:Vmn2r43	APN	7	8255097	missense	probably benign	0.05
IGL03155:Vmn2r43	APN	7	8255069	missense	possibly damaging	0.91
R1722:Vmn2r43	UTSW	7	8255068	missense	probably damaging	0.99
R1813:Vmn2r43	UTSW	7	8255056	missense	possibly damaging	0.81
R1896:Vmn2r43	UTSW	7	8255056	missense	possibly damaging	0.81
R1975:Vmn2r43	UTSW	7	8255551	missense	possibly damaging	0.91
R3951:Vmn2r43	UTSW	7	8255320	missense	probably benign	0.00
R4658:Vmn2r43	UTSW	7	8255071	missense	probably benign	0.01
R4879:Vmn2r43	UTSW	7	8255103	missense	probably benign	0.01
R4896:Vmn2r43	UTSW	7	8244849	missense	probably damaging	1.00
R5004:Vmn2r43	UTSW	7	8244849	missense	probably damaging	1.00
R5041:Vmn2r43	UTSW	7	8244807	missense	probably damaging	1.00
R5577:Vmn2r43	UTSW	7	8244812	missense	probably damaging	1.00
R6073:Vmn2r43	UTSW	7	8255185	missense	probably benign	0.13
R6867:Vmn2r43	UTSW	7	8255126	missense	probably benign	0.00
R7214:Vmn2r43	UTSW	7	8253380	critical splice donor site	probably null
R7339:Vmn2r43	UTSW	7	8255307	nonsense	probably null
R7424:Vmn2r43	UTSW	7	8255329	missense	probably damaging	0.99
R7534:Vmn2r43	UTSW	7	8255231	nonsense	probably null
R7542:Vmn2r43	UTSW	7	8255489	missense	probably benign	0.00
R7757:Vmn2r43	UTSW	7	8255254	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- CCTTGGTGCTATGGTAGACAGG -3'
(R):5'- TGGCGAAAACAGTCACTGTG -3'

Sequencing Primer
(F):5'- GGAGGAAGGTGACCCAGACAC -3'
(R):5'- CGAAAACAGTCACTGTGGTTCTCG -3'

Posted On

2017-10-10