Mutagenetix > Incidental Mutations

Incidental Mutation 'R3951:Vmn2r43'

307938

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r43

Ensembl Gene

ENSMUSG00000053720

Gene Name

vomeronasal 2, receptor 43

Synonyms

EC2-V2R

MMRRC Submission

040828-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.248) question?

Stock #

R3951 (G1)

Quality Score

183

Status

Not validated

Chromosome

Chromosomal Location

8244348-8260599 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 8255320 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 298 (H298L)

Ref Sequence

ENSEMBL: ENSMUSP00000069647 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000066317
AA Change: H298L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000069647
Gene: ENSMUSG00000053720
AA Change: H298L

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	C	10: 100,615,296		probably benign	Het
4932414N04Rik	T	C	2: 68,664,403		probably null	Het
Akr1c18	C	T	13: 4,135,285	V283I	probably benign	Het
Atp2b2	T	A	6: 113,760,831	M861L	possibly damaging	Het
Cdh23	T	C	10: 60,657,326	Y3C	probably benign	Het
Clspn	A	G	4: 126,576,379	E814G	probably damaging	Het
Csgalnact1	T	C	8: 68,461,262	Q97R	probably benign	Het
Dera	A	G	6: 137,837,120	Y100C	probably damaging	Het
Ect2	A	T	3: 27,130,120	D517E	probably benign	Het
Epha4	A	T	1: 77,399,716	Y509N	probably damaging	Het
Fat2	T	C	11: 55,296,382	T1213A	probably benign	Het
Fkbp8	T	A	8: 70,532,661	L275Q	probably damaging	Het
Gabrb2	A	G	11: 42,626,881	Y510C	probably damaging	Het
Gda	T	C	19: 21,472,445	T16A	probably benign	Het
Ggcx	G	A	6: 72,426,558	G363R	probably benign	Het
Gm527	T	G	12: 64,923,502		probably benign	Het
Hoxb2	A	G	11: 96,353,175	E204G	probably damaging	Het
Hsd17b11	G	A	5: 103,992,937		probably benign	Het
Kat14	T	C	2: 144,407,329		probably benign	Het
Kif16b	C	T	2: 142,707,359	V1079I	probably benign	Het
Klhl29	T	A	12: 5,140,660	S112C	probably damaging	Het
Lpcat2	G	T	8: 92,864,903	M58I	probably benign	Het
Lrrc8d	G	T	5: 105,814,276	V851F	probably benign	Het
Ltbp3	T	C	19: 5,756,001	V929A	probably damaging	Het
Map3k20	T	G	2: 72,438,300	I550M	probably damaging	Het
Map3k9	T	C	12: 81,722,521	M941V	probably benign	Het
Myom2	A	T	8: 15,084,556	Y453F	probably benign	Het
Ncapd2	T	C	6: 125,186,784	K78E	probably damaging	Het
Ncor2	G	T	5: 125,032,256	D1496E	possibly damaging	Het
Ndnf	T	C	6: 65,703,141	Y135H	possibly damaging	Het
Ndst1	T	C	18: 60,697,139	N633S	probably benign	Het
Nmur2	G	C	11: 56,040,225	P220R	probably damaging	Het
Nsd1	G	C	13: 55,268,454	E1438Q	probably benign	Het
Olfr1043	G	T	2: 86,162,618	C110*	probably null	Het
Olfr1128	T	C	2: 87,545,065	T160A	probably damaging	Het
Olfr1413	T	A	1: 92,573,789	M206K	possibly damaging	Het
Olfr229	A	T	9: 39,910,725	R307S	probably benign	Het
Pom121l2	T	G	13: 21,982,128	S190A	probably damaging	Het
Prpmp5	G	A	6: 132,312,694	P56S	unknown	Het
Rtn4ip1	T	A	10: 43,909,897		probably null	Het
Scarb1	A	C	5: 125,287,411	C85G	probably damaging	Het
Sh2d4b	A	G	14: 40,872,546	I159T	probably damaging	Het
Sntg1	C	T	1: 8,782,901		probably benign	Het
Sos1	G	A	17: 80,424,181	T630I	probably damaging	Het
Spata7	T	A	12: 98,669,473	D517E	probably damaging	Het
Tcaf1	T	C	6: 42,679,059	T328A	probably benign	Het
Ticrr	T	C	7: 79,682,069	L776S	probably damaging	Het
Trpc2	T	A	7: 102,093,574	M597K	probably damaging	Het
Ttc37	T	G	13: 76,130,219	L551V	probably damaging	Het
Tubb3	C	A	8: 123,421,264	T312N	probably damaging	Het
Ubr4	G	A	4: 139,393,094	V277M	probably damaging	Het
Uhrf2	G	A	19: 30,079,861	R473Q	probably 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
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
R6133:Vmn2r43	UTSW	7	8244971	missense	probably damaging	1.00
R6867:Vmn2r43	UTSW	7	8255126	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGCATTGGATGAATTGCTCTTCAG -3'
(R):5'- GCTTTGCCTTTGTGAAAATGATCTC -3'

Sequencing Primer
(F):5'- CTCTTCAGCATTTTACAGTTAGATGC -3'
(R):5'- GCCTTTGTGAAAATGATCTCTGTTG -3'

Posted On

2015-04-17