Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03155:Vmn2r43'

411210

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vmn2r43

Ensembl Gene

ENSMUSG00000053720

Gene Name

vomeronasal 2, receptor 43

Synonyms

EC2-V2R

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

IGL03155

Quality Score

Status

Chromosome

Chromosomal Location

8247347-8263598 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 8258068 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 382 (I382L)

Ref Sequence

ENSEMBL: ENSMUSP00000069647 (fasta)

Gene Model

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

AlphaFold

Q80Z08

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066317
AA Change: I382L

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000069647
Gene: ENSMUSG00000053720
AA Change: I382L

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	C	T	2: 131,388,001 (GRCm39)	R518H	probably benign	Het
Akr7a5	T	A	4: 139,041,837 (GRCm39)	C190*	probably null	Het
Cct2	A	T	10: 116,896,576 (GRCm39)	L209Q	probably damaging	Het
Chordc1	T	A	9: 18,215,616 (GRCm39)	S123T	possibly damaging	Het
Crtap	T	C	9: 114,209,117 (GRCm39)	D309G	possibly damaging	Het
Csf2	T	C	11: 54,138,497 (GRCm39)	T115A	possibly damaging	Het
Dgkb	T	A	12: 38,189,458 (GRCm39)	I287N	probably damaging	Het
Dyrk1b	G	A	7: 27,882,112 (GRCm39)	D98N	probably benign	Het
Eif4g1	T	C	16: 20,511,167 (GRCm39)	S1550P	probably damaging	Het
Fam83e	A	G	7: 45,376,499 (GRCm39)	E404G	possibly damaging	Het
Fryl	G	A	5: 73,234,038 (GRCm39)	P1496S	probably benign	Het
Fsip1	A	T	2: 118,082,220 (GRCm39)	N71K	probably benign	Het
Gm5092	A	T	17: 21,314,970 (GRCm39)		noncoding transcript	Het
Gnb1l	T	A	16: 18,359,282 (GRCm39)		probably null	Het
Got1l1	T	C	8: 27,689,360 (GRCm39)	Y233C	probably damaging	Het
Katnbl1	T	A	2: 112,239,577 (GRCm39)		probably null	Het
Kcnn2	A	G	18: 45,818,382 (GRCm39)	E493G	probably damaging	Het
Kif26b	C	T	1: 178,701,693 (GRCm39)	R691W	probably damaging	Het
Lrp2	A	T	2: 69,285,796 (GRCm39)		probably benign	Het
Mast3	A	G	8: 71,241,861 (GRCm39)	S107P	probably damaging	Het
Mrc1	A	G	2: 14,335,912 (GRCm39)	N1433D	probably benign	Het
Mycbp2	G	A	14: 103,392,889 (GRCm39)	S3114L	probably benign	Het
Naip6	T	A	13: 100,452,932 (GRCm39)	H43L	possibly damaging	Het
Nin	A	T	12: 70,078,544 (GRCm39)	C1681S	probably damaging	Het
Nnmt	C	T	9: 48,503,352 (GRCm39)	V225M	probably damaging	Het
Or2ag1b	A	T	7: 106,288,446 (GRCm39)	M164K	probably damaging	Het
Or4c125	A	T	2: 89,170,310 (GRCm39)	M112K	probably damaging	Het
Phf21a	T	G	2: 92,150,611 (GRCm39)	V64G	probably damaging	Het
Ptprd	A	T	4: 75,984,456 (GRCm39)	S800R	possibly damaging	Het
Scarf2	C	T	16: 17,625,413 (GRCm39)	P823S	probably benign	Het
Scn5a	T	C	9: 119,341,248 (GRCm39)	T1212A	possibly damaging	Het
Slc38a10	C	T	11: 119,995,945 (GRCm39)	V1043I	probably damaging	Het
Stxbp5	A	T	10: 9,692,034 (GRCm39)	L370Q	probably null	Het
Tas1r2	T	C	4: 139,396,467 (GRCm39)	V602A	possibly damaging	Het
Tatdn1	T	C	15: 58,788,045 (GRCm39)		probably benign	Het
Tdrd6	A	T	17: 43,936,398 (GRCm39)	L1550Q	probably damaging	Het
Tet3	G	T	6: 83,345,365 (GRCm39)	R1556S	probably damaging	Het
Tnpo2	T	A	8: 85,771,709 (GRCm39)	I249N	probably benign	Het
Tnxb	G	T	17: 34,932,569 (GRCm39)	V2263F	probably damaging	Het
Trim75	C	T	8: 65,435,992 (GRCm39)	V153M	possibly damaging	Het
Ttc21a	T	A	9: 119,773,042 (GRCm39)		probably null	Het
Tuft1	T	A	3: 94,541,821 (GRCm39)	I61L	possibly damaging	Het
Usp43	T	C	11: 67,767,315 (GRCm39)	D680G	probably damaging	Het
Vac14	A	G	8: 111,362,975 (GRCm39)	I274V	possibly damaging	Het
Vmn1r222	T	A	13: 23,416,863 (GRCm39)	R117W	probably damaging	Het
Vmn1r83	T	C	7: 12,055,617 (GRCm39)	M147V	probably benign	Het
Vmn2r63	C	T	7: 42,552,878 (GRCm39)	V793I	probably damaging	Het
Vopp1	A	G	6: 57,739,492 (GRCm39)	Y19H	possibly damaging	Het
Yeats2	T	C	16: 20,048,323 (GRCm39)		probably null	Het

Other mutations in Vmn2r43

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01756:Vmn2r43	APN	7	8,258,583 (GRCm39)	missense	probably benign	0.00
IGL01777:Vmn2r43	APN	7	8,258,272 (GRCm39)	missense	probably damaging	1.00
IGL02096:Vmn2r43	APN	7	8,260,512 (GRCm39)	splice site	probably benign
IGL02429:Vmn2r43	APN	7	8,258,551 (GRCm39)	missense	probably benign	0.00
IGL03026:Vmn2r43	APN	7	8,258,096 (GRCm39)	missense	probably benign	0.05
R1722:Vmn2r43	UTSW	7	8,258,067 (GRCm39)	missense	probably damaging	0.99
R1813:Vmn2r43	UTSW	7	8,258,055 (GRCm39)	missense	possibly damaging	0.81
R1896:Vmn2r43	UTSW	7	8,258,055 (GRCm39)	missense	possibly damaging	0.81
R1975:Vmn2r43	UTSW	7	8,258,550 (GRCm39)	missense	possibly damaging	0.91
R3951:Vmn2r43	UTSW	7	8,258,319 (GRCm39)	missense	probably benign	0.00
R4658:Vmn2r43	UTSW	7	8,258,070 (GRCm39)	missense	probably benign	0.01
R4879:Vmn2r43	UTSW	7	8,258,102 (GRCm39)	missense	probably benign	0.01
R4896:Vmn2r43	UTSW	7	8,247,848 (GRCm39)	missense	probably damaging	1.00
R5004:Vmn2r43	UTSW	7	8,247,848 (GRCm39)	missense	probably damaging	1.00
R5041:Vmn2r43	UTSW	7	8,247,806 (GRCm39)	missense	probably damaging	1.00
R5577:Vmn2r43	UTSW	7	8,247,811 (GRCm39)	missense	probably damaging	1.00
R6073:Vmn2r43	UTSW	7	8,258,184 (GRCm39)	missense	probably benign	0.13
R6133:Vmn2r43	UTSW	7	8,247,970 (GRCm39)	missense	probably damaging	1.00
R6867:Vmn2r43	UTSW	7	8,258,125 (GRCm39)	missense	probably benign	0.00
R7214:Vmn2r43	UTSW	7	8,256,379 (GRCm39)	critical splice donor site	probably null
R7339:Vmn2r43	UTSW	7	8,258,306 (GRCm39)	nonsense	probably null
R7424:Vmn2r43	UTSW	7	8,258,328 (GRCm39)	missense	probably damaging	0.99
R7534:Vmn2r43	UTSW	7	8,258,230 (GRCm39)	nonsense	probably null
R7542:Vmn2r43	UTSW	7	8,258,488 (GRCm39)	missense	probably benign	0.00
R7757:Vmn2r43	UTSW	7	8,258,253 (GRCm39)	missense	possibly damaging	0.77
R8131:Vmn2r43	UTSW	7	8,258,326 (GRCm39)	missense	probably benign	0.00
R8345:Vmn2r43	UTSW	7	8,256,601 (GRCm39)	missense	possibly damaging	0.69
R8418:Vmn2r43	UTSW	7	8,258,583 (GRCm39)	nonsense	probably null
R9691:Vmn2r43	UTSW	7	8,247,787 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02