Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02114:Vmn2r30'

280275

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vmn2r30

Ensembl Gene

ENSMUSG00000070847

Gene Name

vomeronasal 2, receptor 30

Synonyms

V2r15

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02114

Quality Score

Status

Chromosome

Chromosomal Location

7314722-7340530 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7340408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 29 (I29V)

Ref Sequence

ENSEMBL: ENSMUSP00000134223 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072475] [ENSMUST00000174368] [ENSMUST00000210877]

AlphaFold

K7N5W1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072475
AA Change: I29V

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000072296
Gene: ENSMUSG00000070847
AA Change: I29V

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ANF_receptor	160	469	2.1e-25	PFAM
Pfam:NCD3G	512	565	8.1e-21	PFAM
Pfam:7tm_3	598	833	2.1e-55	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174368
AA Change: I29V

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000134223
Gene: ENSMUSG00000070847
AA Change: I29V

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ANF_receptor	155	468	1.5e-27	PFAM
Pfam:NCD3G	512	564	7.2e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000210877

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700084J12Rik	C	A	15: 33,405,844 (GRCm39)		probably benign	Het
Akap3	T	C	6: 126,842,959 (GRCm39)	V526A	probably damaging	Het
Ano6	C	A	15: 95,841,341 (GRCm39)	S479R	probably damaging	Het
Aqp8	C	A	7: 123,063,419 (GRCm39)	H90N	probably damaging	Het
Arih1	A	T	9: 59,333,452 (GRCm39)	C229S	probably damaging	Het
Col6a6	C	A	9: 105,644,398 (GRCm39)		probably null	Het
Cp	A	G	3: 20,020,511 (GRCm39)	E168G	probably benign	Het
Creb5	C	T	6: 53,581,443 (GRCm39)		probably benign	Het
Cstdc3	T	A	16: 36,131,617 (GRCm39)	Y42*	probably null	Het
Cyp2c66	C	A	19: 39,159,519 (GRCm39)		probably benign	Het
Dcpp2	C	A	17: 24,119,609 (GRCm39)	A141D	possibly damaging	Het
Dnah5	A	G	15: 28,397,270 (GRCm39)	D3321G	probably damaging	Het
Ecsit	T	C	9: 21,989,440 (GRCm39)		probably benign	Het
Gabra1	T	C	11: 42,026,402 (GRCm39)	I297V	probably damaging	Het
Gja8	T	C	3: 96,827,341 (GRCm39)	K107R	probably benign	Het
Gm16686	A	T	4: 88,673,739 (GRCm39)	L30Q	probably null	Het
Hbp1	T	C	12: 31,980,674 (GRCm39)		probably benign	Het
Inhbc	T	C	10: 127,205,971 (GRCm39)	I99V	probably benign	Het
Kcne3	T	A	7: 99,833,697 (GRCm39)		probably benign	Het
Larp1	T	C	11: 57,947,881 (GRCm39)	Y926H	probably damaging	Het
Lhfpl5	G	T	17: 28,795,149 (GRCm39)	A59S	possibly damaging	Het
Mov10	T	A	3: 104,702,634 (GRCm39)		probably benign	Het
Myl12b	A	T	17: 71,284,164 (GRCm39)	N21K	possibly damaging	Het
Ncoa7	A	T	10: 30,538,360 (GRCm39)	V675E	probably damaging	Het
Nt5c1b	T	C	12: 10,425,444 (GRCm39)	I255T	probably damaging	Het
Numa1	T	A	7: 101,661,083 (GRCm39)		probably benign	Het
Or13c3	T	A	4: 52,856,144 (GRCm39)	Y123F	probably damaging	Het
Otop2	A	T	11: 115,217,806 (GRCm39)	D214V	possibly damaging	Het
Plec	C	A	15: 76,057,748 (GRCm39)	G3928V	probably damaging	Het
Prkcz	T	C	4: 155,356,047 (GRCm39)	E176G	probably damaging	Het
Qdpr	G	A	5: 45,592,018 (GRCm39)	T106I	possibly damaging	Het
R3hdm2	T	G	10: 127,319,978 (GRCm39)	M481R	probably damaging	Het
Setdb2	C	T	14: 59,639,764 (GRCm39)	R709Q	probably damaging	Het
Skic2	C	T	17: 35,060,092 (GRCm39)	V145M	probably damaging	Het
Slx4ip	T	A	2: 136,842,120 (GRCm39)	V15D	probably damaging	Het
Stat4	T	C	1: 52,142,024 (GRCm39)	S624P	probably damaging	Het
Tecpr2	T	A	12: 110,935,321 (GRCm39)	L1380Q	probably damaging	Het
Traf2	T	C	2: 25,415,004 (GRCm39)	I286V	possibly damaging	Het
Wdr43	A	G	17: 71,959,843 (GRCm39)	Q561R	probably benign	Het
Zfp607b	T	A	7: 27,403,150 (GRCm39)	F535L	probably benign	Het

Other mutations in Vmn2r30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01797:Vmn2r30	APN	7	7,337,195 (GRCm39)	missense	probably benign
IGL02429:Vmn2r30	APN	7	7,337,243 (GRCm39)	missense	possibly damaging	0.95
IGL03214:Vmn2r30	APN	7	7,337,259 (GRCm39)	missense	probably benign	0.00
R1723:Vmn2r30	UTSW	7	7,337,259 (GRCm39)	missense	probably benign	0.00
R4472:Vmn2r30	UTSW	7	7,320,091 (GRCm39)	missense	probably damaging	1.00
R5409:Vmn2r30	UTSW	7	7,315,547 (GRCm39)	missense	probably damaging	1.00
R5979:Vmn2r30	UTSW	7	7,315,334 (GRCm39)	missense	probably damaging	0.99
R6035:Vmn2r30	UTSW	7	7,337,350 (GRCm39)	missense	probably benign	0.34
R6035:Vmn2r30	UTSW	7	7,337,350 (GRCm39)	missense	probably benign	0.34
R6336:Vmn2r30	UTSW	7	7,337,307 (GRCm39)	missense	probably benign	0.03
R6904:Vmn2r30	UTSW	7	7,315,547 (GRCm39)	missense	probably damaging	1.00
R7124:Vmn2r30	UTSW	7	7,337,183 (GRCm39)	missense	probably benign	0.05
R8415:Vmn2r30	UTSW	7	7,315,359 (GRCm39)	missense	probably damaging	0.98
R8558:Vmn2r30	UTSW	7	7,315,655 (GRCm39)	missense	possibly damaging	0.61
R9267:Vmn2r30	UTSW	7	7,340,432 (GRCm39)	missense	possibly damaging	0.83
R9744:Vmn2r30	UTSW	7	7,315,284 (GRCm39)	missense	possibly damaging	0.91
V8831:Vmn2r30	UTSW	7	7,337,148 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16