Mutagenetix > Incidental Mutation

Incidental Mutation 'R0539:Vmn2r95'

49746

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r95

Ensembl Gene

ENSMUSG00000091631

Gene Name

vomeronasal 2, receptor 95

Synonyms

MMRRC Submission

038731-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R0539 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18424078-18460905 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18452100 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 700 (F700L)

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 damaging
Transcript: ENSMUST00000232090
AA Change: F772L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000232464
AA Change: F700L

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

100% (107/107)

Allele List at MGI

Other mutations in this stock

Total: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730480H06Rik	T	A	5: 48,379,350	H129Q	probably damaging	Het
Abca14	G	A	7: 120,207,797	R22Q	probably damaging	Het
Abcg5	T	A	17: 84,669,075	M445L	probably benign	Het
Abhd3	T	A	18: 10,645,208	N357I	possibly damaging	Het
Adamts5	C	T	16: 85,868,692	G574S	probably damaging	Het
Adgrg5	T	A	8: 94,938,632	N389K	probably damaging	Het
Ankk1	A	G	9: 49,418,030	V80A	probably benign	Het
Arhgap20	A	G	9: 51,850,155	Q1066R	probably benign	Het
Arhgap21	T	A	2: 20,914,799	K32*	probably null	Het
AW209491	T	C	13: 14,637,732	F390S	probably damaging	Het
Axl	A	T	7: 25,778,717		probably benign	Het
Bri3bp	A	G	5: 125,454,539	Y183C	probably damaging	Het
Cad	T	C	5: 31,075,457		probably benign	Het
Capns2	A	G	8: 92,901,732	Q83R	possibly damaging	Het
Ccdc180	G	T	4: 45,922,010	R1028L	probably damaging	Het
Cdh19	C	A	1: 110,925,162	V348F	possibly damaging	Het
Chrm2	T	C	6: 36,523,706	V166A	possibly damaging	Het
Clmp	A	G	9: 40,782,486	Y333C	probably benign	Het
Cntn3	A	G	6: 102,277,217		probably null	Het
Copz1	A	G	15: 103,291,365	Y69C	probably damaging	Het
Crybg1	T	C	10: 43,998,898	D738G	probably benign	Het
Ctnna2	T	A	6: 76,973,899	I165F	probably damaging	Het
Dcaf7	T	G	11: 106,051,826	S200A	probably damaging	Het
Deup1	T	A	9: 15,582,597	R416S	possibly damaging	Het
Dmxl1	T	A	18: 49,857,430		probably benign	Het
Dnase2b	A	T	3: 146,589,155		probably benign	Het
Dst	C	T	1: 34,189,119	P1606L	probably damaging	Het
Eef2	C	CN	10: 81,178,768		probably null	Het
Ephb2	T	C	4: 136,655,976	Y931C	probably damaging	Het
Fam83h	T	C	15: 76,003,227	S754G	possibly damaging	Het
Fibp	T	A	19: 5,463,188	V177D	probably damaging	Het
Gfpt2	T	C	11: 49,832,898	I571T	probably damaging	Het
Grm7	T	G	6: 111,359,094		probably benign	Het
Gsdma3	A	G	11: 98,635,919	Y335C	probably damaging	Het
H2-T23	A	T	17: 36,032,141		probably benign	Het
Hist1h4c	A	G	13: 23,698,148	F101S	probably damaging	Het
Hydin	A	G	8: 110,523,072	I2216V	probably benign	Het
Ipo8	A	G	6: 148,818,108	M113T	probably benign	Het
Kdm6a	A	G	X: 18,262,425	E1045G	probably damaging	Het
Kyat1	C	T	2: 30,188,217	E117K	probably damaging	Het
Lin7b	A	G	7: 45,369,902		probably benign	Het
Lipn	G	A	19: 34,084,603		probably benign	Het
Lrfn2	C	A	17: 49,071,044	N384K	probably damaging	Het
Lrrc6	A	T	15: 66,447,606	V305D	probably damaging	Het
Map1b	T	C	13: 99,434,018	K732E	unknown	Het
Mpl	A	G	4: 118,443,508	M541T	possibly damaging	Het
Mprip	T	C	11: 59,741,117		probably benign	Het
Mrc1	T	C	2: 14,270,126		probably benign	Het
Ms4a13	T	C	19: 11,171,871		probably benign	Het
Myo18b	G	T	5: 112,723,868	R2116S	probably damaging	Het
Nav2	A	G	7: 49,461,938	T731A	probably damaging	Het
Ncoa6	G	T	2: 155,415,697	A642D	probably benign	Het
Ndufs7	T	A	10: 80,254,831		probably benign	Het
Nfkbiz	G	A	16: 55,817,879	T406M	probably benign	Het
Nr4a1	A	G	15: 101,270,884	E267G	probably damaging	Het
Nrxn2	T	G	19: 6,493,404	F1103V	probably damaging	Het
Olfr1028	G	T	2: 85,952,009	M315I	probably benign	Het
Olfr1044	A	T	2: 86,171,043	M258K	probably damaging	Het
Olfr1441	C	T	19: 12,422,809	L167F	probably damaging	Het
Olfr381	T	C	11: 73,486,063	T254A	probably benign	Het
Olfr479	C	T	7: 108,055,822	T280I	probably damaging	Het
Olfr958	A	T	9: 39,550,297	D191E	probably damaging	Het
Olfr996	T	A	2: 85,579,775	C179S	probably damaging	Het
Phf1	A	G	17: 26,934,458		probably null	Het
Pip	C	T	6: 41,849,885	Q53*	probably null	Het
Ppp2ca	T	C	11: 52,118,162		probably null	Het
Prl2c5	A	G	13: 13,189,321		probably null	Het
Psph	T	A	5: 129,766,577		probably benign	Het
Ptch1	C	T	13: 63,543,480		probably benign	Het
Ptprs	C	T	17: 56,458,255	V10M	probably damaging	Het
Rarg	T	C	15: 102,238,877	R358G	probably damaging	Het
Rbl2	T	C	8: 91,112,505		probably benign	Het
Robo2	A	T	16: 73,985,574		probably benign	Het
Scin	A	T	12: 40,081,766	D256E	possibly damaging	Het
Scn8a	T	C	15: 101,016,568	Y1152H	probably damaging	Het
Sh2b2	T	G	5: 136,225,301		probably benign	Het
Slc13a2	G	A	11: 78,399,138	P450L	probably damaging	Het
Slc2a12	A	G	10: 22,692,230	I519V	probably benign	Het
Slc30a9	C	T	5: 67,334,610	T260M	probably damaging	Het
Slc9a7	A	T	X: 20,202,762	F184Y	probably damaging	Het
Smc2	G	T	4: 52,458,558	K466N	probably benign	Het
Snx16	T	C	3: 10,426,218	E209G	probably damaging	Het
Sp3	A	T	2: 72,970,532	I423N	possibly damaging	Het
Ssh2	G	T	11: 77,454,794	V1202F	probably benign	Het
Stam2	A	T	2: 52,703,256		probably benign	Het
Stox2	T	C	8: 47,194,035	Y194C	probably damaging	Het
Sult3a1	A	G	10: 33,866,523	T49A	probably damaging	Het
Supt3	A	T	17: 45,003,131	I136F	possibly damaging	Het
Syne2	A	T	12: 76,024,121	R103S	possibly damaging	Het
Synj2	T	A	17: 5,996,888	M1K	probably null	Het
Tas2r110	T	C	6: 132,868,371	S122P	possibly damaging	Het
Tln1	A	G	4: 43,543,434		probably null	Het
Tmem117	A	G	15: 94,714,912	T110A	possibly damaging	Het
Tmem247	A	G	17: 86,917,478	D5G	probably benign	Het
Tmem39a	T	A	16: 38,590,975	F363I	probably benign	Het
Tmem80	G	A	7: 141,335,895	A73T	possibly damaging	Het
Trpm4	C	T	7: 45,305,472	G901S	probably damaging	Het
Upk3bl	T	C	5: 136,063,986		probably benign	Het
Vmn1r120	A	T	7: 21,053,472	C105S	probably damaging	Het
Vmn1r69	A	T	7: 10,580,947		probably benign	Het
Wdr70	G	A	15: 7,885,637	T550M	possibly damaging	Het
Zbtb22	A	G	17: 33,918,144	D421G	possibly damaging	Het
Zbtb45	G	A	7: 13,006,333	R452C	probably damaging	Het
Zfhx3	T	C	8: 108,800,509	Y1013H	probably damaging	Het
Zfp329	C	T	7: 12,806,593		probably null	Het
Zfp532	T	A	18: 65,623,766	S257T	probably benign	Het
Zfp933	G	A	4: 147,826,548	T197I	probably benign	Het
Zgrf1	T	A	3: 127,615,192	N1649K	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
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
R5054:Vmn2r95	UTSW	17	18451446	missense	possibly damaging	0.63
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'- TGCTTGCATCCTTCAGCAGACC -3'
(R):5'- ATGCTCAAGGAATGGAGCCATCAG -3'

Sequencing Primer
(F):5'- GGAATATGGATGGCAACTTCTCC -3'
(R):5'- GAGCCATCAGGTCTTAGACTCAG -3'

Posted On

2013-06-12