Mutagenetix > Incidental Mutation

Incidental Mutation 'R5409:Vmn2r30'

426448

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r30

Ensembl Gene

ENSMUSG00000070847

Gene Name

vomeronasal 2, receptor 30

Synonyms

V2r15

MMRRC Submission

042978-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R5409 (G1)

Quality Score

153

Status

Not validated

Chromosome

Chromosomal Location

7314722-7340530 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 7315547 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 762 (F762S)

Ref Sequence

ENSEMBL: ENSMUSP00000072296 (fasta)

Gene Model

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

AlphaFold

K7N5W1

Predicted Effect

probably damaging
Transcript: ENSMUST00000072475
AA Change: F762S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000072296
Gene: ENSMUSG00000070847
AA Change: F762S

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

probably benign
Transcript: ENSMUST00000174368

SMART Domains

Protein: ENSMUSP00000134223
Gene: ENSMUSG00000070847

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

noncoding transcript
Transcript: ENSMUST00000209644

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 79,850,154 (GRCm39)	L2002P	probably damaging	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Adgrl1	A	G	8: 84,656,371 (GRCm39)	T230A	probably damaging	Het
Anapc4	A	G	5: 53,005,941 (GRCm39)	E316G	probably damaging	Het
Asic1	GCACC	GCACCACC	15: 99,596,684 (GRCm39)		probably benign	Het
Aurka	T	G	2: 172,209,036 (GRCm39)	Q33P	possibly damaging	Het
Ccn5	G	A	2: 163,667,158 (GRCm39)	C53Y	probably damaging	Het
Cenpm	T	C	15: 82,118,564 (GRCm39)	T153A	probably benign	Het
Clca4b	T	A	3: 144,622,452 (GRCm39)	K538*	probably null	Het
Clip2	G	A	5: 134,551,645 (GRCm39)	T159M	possibly damaging	Het
Col5a1	C	T	2: 27,850,457 (GRCm39)	T518I	unknown	Het
Dis3	A	T	14: 99,323,368 (GRCm39)	M566K	possibly damaging	Het
Dnah1	C	T	14: 30,985,212 (GRCm39)	R3869H	probably damaging	Het
Gm4775	A	T	14: 106,338,386 (GRCm39)		noncoding transcript	Het
Hipk2	C	T	6: 38,706,977 (GRCm39)	G637D	probably damaging	Het
Igkv4-61	T	C	6: 69,394,111 (GRCm39)	K18E	possibly damaging	Het
Kcnk4	A	G	19: 6,903,578 (GRCm39)	S324P	probably benign	Het
Larp4	T	C	15: 99,883,945 (GRCm39)	C61R	probably damaging	Het
Nid2	T	C	14: 19,856,030 (GRCm39)	F986L	probably damaging	Het
Or5ac16	A	G	16: 59,021,920 (GRCm39)	Y290H	probably damaging	Het
Or5aq1b	T	C	2: 86,902,214 (GRCm39)	E88G	possibly damaging	Het
Or5h22	C	T	16: 58,894,559 (GRCm39)	V295I	possibly damaging	Het
Pgbd5	T	A	8: 125,098,619 (GRCm39)	I359F	probably damaging	Het
Plekhh2	T	C	17: 84,893,906 (GRCm39)		probably null	Het
Pomgnt2	A	T	9: 121,811,303 (GRCm39)	S493T	possibly damaging	Het
Rnf7l	A	T	10: 63,257,403 (GRCm39)	M39K	possibly damaging	Het
Rp1l1	T	C	14: 64,268,070 (GRCm39)	S1219P	probably benign	Het
Rprd1b	T	A	2: 157,916,987 (GRCm39)	F322L	probably damaging	Het
Sh3rf1	G	A	8: 61,827,279 (GRCm39)	V678M	probably benign	Het
Smpd5	C	A	15: 76,179,914 (GRCm39)	T321K	probably damaging	Het
Spag8	T	A	4: 43,653,134 (GRCm39)		probably benign	Het
Tanc2	T	C	11: 105,758,311 (GRCm39)	C691R	possibly damaging	Het
Tnc	A	C	4: 63,884,773 (GRCm39)	M1834R	probably damaging	Het
Tnc	A	T	4: 63,925,654 (GRCm39)	Y961N	probably damaging	Het
Ttn	T	C	2: 76,700,893 (GRCm39)		probably benign	Het
Ufl1	A	G	4: 25,280,706 (GRCm39)	V47A	probably damaging	Het
Unc13c	T	A	9: 73,485,672 (GRCm39)	D1676V	possibly damaging	Het
Vmn1r65	T	C	7: 6,012,012 (GRCm39)	N74S	possibly damaging	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
IGL02114:Vmn2r30	APN	7	7,340,408 (GRCm39)	missense	possibly damaging	0.62
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
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

Predicted Primers

PCR Primer
(F):5'- CACTGGATGCCAAGATGGAG -3'
(R):5'- CTGGCTTTCAAAGTCACAGAC -3'

Sequencing Primer
(F):5'- CTGGATGCCAAGATGGAGAAGATCTC -3'
(R):5'- TTTCAAAGTCACAGACCCAGGGAG -3'

Posted On

2016-09-01