Mutagenetix > Incidental Mutation

Incidental Mutation 'R5054:Vmn2r95'

390736

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r95

Ensembl Gene

ENSMUSG00000091631

Gene Name

vomeronasal 2, receptor 95

Synonyms

MMRRC Submission

042644-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R5054 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18424078-18460905 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 18451446 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 482 (V482L)

Ref Sequence

ENSEMBL: ENSMUSP00000156383 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000166327] [ENSMUST00000232090] [ENSMUST00000232464]

AlphaFold

A0A338P6T0

Predicted Effect

probably benign
Transcript: ENSMUST00000166327

SMART Domains

Protein: ENSMUSP00000126106
Gene: ENSMUSG00000091631

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:ANF_receptor	82	462	1.8e-35	PFAM
Pfam:NCD3G	509	562	3.2e-20	PFAM
Pfam:7tm_3	594	830	3.2e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000232090
AA Change: V554L

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000232464
AA Change: V482L

PolyPhen 2 Score 0.627 (Sensitivity: 0.87; Specificity: 0.91)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

94% (67/71)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	A	G	13: 59,689,501	Y257H	probably damaging	Het
Adam28	C	T	14: 68,617,715	C659Y	probably damaging	Het
Adamtsl2	G	A	2: 27,101,720	E627K	probably damaging	Het
Atad5	T	A	11: 80,094,676	S196R	probably benign	Het
Bcam	T	A	7: 19,756,860		probably benign	Het
Birc6	A	G	17: 74,655,325	H3978R	probably damaging	Het
Btbd7	T	C	12: 102,838,212	I190V	probably benign	Het
Ccdc8	T	C	7: 16,995,045	V153A	probably damaging	Het
Cyp2a5	C	G	7: 26,841,104	R68G	probably damaging	Het
Dock3	T	C	9: 106,937,906	Y1254C	probably damaging	Het
Dync2h1	T	C	9: 7,085,007	E2794G	possibly damaging	Het
Dytn	C	A	1: 63,661,159	V271L	possibly damaging	Het
Eif2s2	A	C	2: 154,892,670		probably null	Het
Fndc7	A	G	3: 108,881,347	S193P	probably damaging	Het
Fzr1	G	A	10: 81,371,419		probably benign	Het
Gm17472	T	C	6: 42,981,004	I69T	probably damaging	Het
Gm5039	T	C	12: 88,321,301	I61V	probably benign	Het
Gmppa	C	A	1: 75,439,371	Y137*	probably null	Het
Gpr45	A	G	1: 43,032,649	I151V	probably benign	Het
H1f0	G	A	15: 79,028,773	A18T	probably damaging	Het
Hbb-bh1	C	T	7: 103,841,856	V114I	probably benign	Het
Impa2	C	A	18: 67,306,727	P98Q	probably damaging	Het
Kazn	T	C	4: 142,108,646	N573D	unknown	Het
Kcna2	A	T	3: 107,104,340	D79V	probably damaging	Het
Kcna7	G	A	7: 45,406,591	R77H	probably damaging	Het
Kif13a	A	G	13: 46,802,646	Y561H	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Klra1	T	A	6: 130,375,284	Q165L	probably damaging	Het
Mat2b	T	A	11: 40,680,042	R318S	probably damaging	Het
Mgat4d	G	A	8: 83,368,208		probably null	Het
Mtor	T	A	4: 148,556,855		probably null	Het
Nostrin	A	T	2: 69,175,713	Q247L	possibly damaging	Het
Obscn	T	C	11: 59,073,617	E3033G	probably damaging	Het
Pam	C	A	1: 97,821,917	D839Y	probably damaging	Het
Pds5a	A	G	5: 65,637,814	V693A	probably damaging	Het
Pigo	A	T	4: 43,021,337	L535Q	probably damaging	Het
Ppp1r12b	G	T	1: 134,955,733	A17E	probably benign	Het
Ptar1	G	T	19: 23,694,365	R44L	probably damaging	Het
Rad51c	T	C	11: 87,397,754	H201R	probably benign	Het
Rims2	A	T	15: 39,517,869		probably null	Het
Rnf219	C	T	14: 104,508,030	G70E	probably damaging	Het
Rpl22l1	T	G	3: 28,806,836	S67A	possibly damaging	Het
Rps10	A	G	17: 27,630,480	S143P	probably damaging	Het
Rundc1	T	C	11: 101,425,141	V13A	probably benign	Het
Sephs2	C	A	7: 127,273,392	M176I	probably benign	Het
Serpina16	C	T	12: 103,674,930	V179I	probably benign	Het
Serpini2	T	A	3: 75,259,477	T158S	probably damaging	Het
Slc12a3	A	G	8: 94,346,351	R701G	probably damaging	Het
Slc1a6	A	G	10: 78,814,602	E558G	probably damaging	Het
Ssx2ip	T	C	3: 146,430,917		probably benign	Het
Tbr1	A	T	2: 61,806,002	I241F	possibly damaging	Het
Tgfa	G	C	6: 86,270,082		probably null	Het
Tlr12	T	A	4: 128,617,270	K396*	probably null	Het
Tmppe	A	G	9: 114,405,958	I442V	probably benign	Het
Tubb3	T	C	8: 123,420,868	V180A	probably damaging	Het
Vmn1r222	A	G	13: 23,232,731	V104A	probably damaging	Het
Zfp184	G	T	13: 21,959,282	R386L	possibly damaging	Het
Zfp444	T	A	7: 6,189,793	V270E	probably damaging	Het
Zfp985	A	T	4: 147,582,981	Y102F	probably damaging	Het

Other mutations in Vmn2r95

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:Vmn2r95	APN	17	18452328	utr 3 prime	probably benign
IGL01479:Vmn2r95	APN	17	18443862	missense	probably damaging	1.00
IGL01890:Vmn2r95	APN	17	18451475	missense	probably damaging	1.00
IGL01986:Vmn2r95	APN	17	18440211	missense	probably benign	0.06
IGL02113:Vmn2r95	APN	17	18439907	missense	possibly damaging	0.47
IGL02154:Vmn2r95	APN	17	18451986	missense	probably benign	0.16
IGL02190:Vmn2r95	APN	17	18451776	missense	probably benign	0.00
IGL02412:Vmn2r95	APN	17	18439956	missense	probably damaging	1.00
IGL02550:Vmn2r95	APN	17	18451732	missense	probably damaging	1.00
IGL02679:Vmn2r95	APN	17	18443854	missense	probably damaging	1.00
IGL02691:Vmn2r95	APN	17	18451858	missense	probably benign	0.07
IGL02990:Vmn2r95	APN	17	18452036	nonsense	probably null
IGL03032:Vmn2r95	APN	17	18452313	missense	probably benign	0.00
R0416:Vmn2r95	UTSW	17	18441402	missense	probably damaging	1.00
R0448:Vmn2r95	UTSW	17	18451743	missense	possibly damaging	0.92
R0514:Vmn2r95	UTSW	17	18451582	missense	probably benign
R0519:Vmn2r95	UTSW	17	18439503	missense	probably damaging	1.00
R0539:Vmn2r95	UTSW	17	18452100	missense	probably damaging	1.00
R1501:Vmn2r95	UTSW	17	18439856	missense	probably damaging	0.99
R1598:Vmn2r95	UTSW	17	18452313	missense	probably benign	0.03
R1613:Vmn2r95	UTSW	17	18440639	splice site	probably benign
R1861:Vmn2r95	UTSW	17	18452268	missense	probably damaging	1.00
R1921:Vmn2r95	UTSW	17	18424313	missense	probably benign	0.11
R1986:Vmn2r95	UTSW	17	18451543	missense	probably benign
R2031:Vmn2r95	UTSW	17	18439455	missense	possibly damaging	0.94
R2040:Vmn2r95	UTSW	17	18441299	missense	probably damaging	1.00
R3608:Vmn2r95	UTSW	17	18439973	missense	possibly damaging	0.47
R3727:Vmn2r95	UTSW	17	18441482	nonsense	probably null
R3953:Vmn2r95	UTSW	17	18440096	missense	possibly damaging	0.79
R3955:Vmn2r95	UTSW	17	18440096	missense	possibly damaging	0.79
R3957:Vmn2r95	UTSW	17	18440096	missense	possibly damaging	0.79
R4474:Vmn2r95	UTSW	17	18452245	missense	probably damaging	1.00
R4672:Vmn2r95	UTSW	17	18452151	missense	probably damaging	1.00
R4850:Vmn2r95	UTSW	17	18451653	missense	probably damaging	1.00
R5178:Vmn2r95	UTSW	17	18440075	missense	probably benign	0.01
R5980:Vmn2r95	UTSW	17	18441362	missense	probably benign
R6183:Vmn2r95	UTSW	17	18443930	missense	probably damaging	0.99
R6276:Vmn2r95	UTSW	17	18451470	missense	possibly damaging	0.96
R6651:Vmn2r95	UTSW	17	18440360	missense	probably damaging	1.00
R6682:Vmn2r95	UTSW	17	18440227	missense	probably damaging	1.00
R6797:Vmn2r95	UTSW	17	18452289	utr 3 prime	probably benign
R6799:Vmn2r95	UTSW	17	18439293	missense	probably damaging	1.00
R6849:Vmn2r95	UTSW	17	18443919	missense	probably damaging	1.00
R6849:Vmn2r95	UTSW	17	18443920	missense	probably damaging	1.00
R6982:Vmn2r95	UTSW	17	18452061	missense	probably damaging	1.00
R7203:Vmn2r95	UTSW	17	18441315	missense	probably benign	0.01
R7226:Vmn2r95	UTSW	17	18451983	missense	possibly damaging	0.90
R7240:Vmn2r95	UTSW	17	18451963	missense	probably benign	0.15
R7383:Vmn2r95	UTSW	17	18440472	missense	probably benign	0.06
R7614:Vmn2r95	UTSW	17	18440090	missense	probably benign
R7755:Vmn2r95	UTSW	17	18424105	start codon destroyed	probably null	0.99
R7942:Vmn2r95	UTSW	17	18440267	missense	possibly damaging	0.74
R8355:Vmn2r95	UTSW	17	18440090	missense	probably benign
R8455:Vmn2r95	UTSW	17	18440090	missense	probably benign
R8478:Vmn2r95	UTSW	17	18452282	missense	probably damaging	1.00
R8547:Vmn2r95	UTSW	17	18443899	missense	probably damaging	1.00
R8752:Vmn2r95	UTSW	17	18441476	missense	probably damaging	0.98
R8788:Vmn2r95	UTSW	17	18451528	missense	probably benign	0.09
R8852:Vmn2r95	UTSW	17	18443851	missense	possibly damaging	0.95
R9098:Vmn2r95	UTSW	17	18439905	missense	possibly damaging	0.88
R9202:Vmn2r95	UTSW	17	18424132	missense	probably benign	0.00
R9244:Vmn2r95	UTSW	17	18451927	missense	possibly damaging	0.91
R9546:Vmn2r95	UTSW	17	18441459	missense	probably benign	0.01
R9665:Vmn2r95	UTSW	17	18440345	missense	probably damaging	0.99
Z1088:Vmn2r95	UTSW	17	18440401	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GATGTAAGGAGCTCAAGGAGTTTTG -3'
(R):5'- CTGTGCTTCACAAAGATGCC -3'

Sequencing Primer
(F):5'- CTCAAGGAGTTTTGAGTAAAGACTG -3'
(R):5'- TGTGCTTCACAAAGATGCCAATAAC -3'

Posted On

2016-06-06