Mutagenetix > Incidental Mutation

Incidental Mutation 'R8179:Vmn2r118'

634581

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r118

Ensembl Gene

ENSMUSG00000091504

Gene Name

vomeronasal 2, receptor 118

Synonyms

EG383258, Vmn2r119, EG668547

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R8179 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55592341-55624672 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55608484 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 489 (Y489N)

Ref Sequence

ENSEMBL: ENSMUSP00000131128 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168440]

AlphaFold

E9Q1C1

Predicted Effect

probably benign
Transcript: ENSMUST00000168440
AA Change: Y489N

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000131128
Gene: ENSMUSG00000091504
AA Change: Y489N

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:ANF_receptor	142	470	4.6e-27	PFAM
Pfam:NCD3G	513	566	2.6e-20	PFAM
Pfam:7tm_3	599	834	5.9e-55	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	G	11: 110,245,274	Y170H	probably damaging	Het
Ace3	G	T	11: 106,004,557	V602L	probably benign	Het
Ahr	T	C	12: 35,510,051	Q201R	probably benign	Het
Aldh18a1	A	C	19: 40,557,508	C612G	probably damaging	Het
Ankrd40	G	A	11: 94,334,715	A191T	probably benign	Het
Aox1	A	G	1: 58,097,958	D1169G	probably damaging	Het
Arfgap2	T	C	2: 91,275,323	F505L	probably damaging	Het
Arhgap40	T	C	2: 158,539,856	F423L	probably damaging	Het
Atf6b	T	C	17: 34,653,994	M628T	probably damaging	Het
Casp8ap2	T	A	4: 32,643,939	L1004*	probably null	Het
Cc2d2a	T	A	5: 43,699,953	L494Q	probably damaging	Het
Cd180	T	C	13: 102,705,633	S396P	probably benign	Het
Cdk19	T	C	10: 40,394,372	I59T	possibly damaging	Het
Cfap54	G	T	10: 92,997,316	F1149L	possibly damaging	Het
Chp1	C	T	2: 119,547,772		probably benign	Het
Clmp	T	C	9: 40,781,179	F248S	probably benign	Het
Ctc1	T	A	11: 69,024,224	I237K	probably benign	Het
Ddx54	T	A	5: 120,627,102	M812K	probably benign	Het
Disc1	C	T	8: 125,087,577	P60L	probably benign	Het
Disp2	C	G	2: 118,792,549	P1254R	probably damaging	Het
Dnah11	T	A	12: 117,878,549	I4432F	possibly damaging	Het
Dnajc15	A	T	14: 77,852,953	I58N		Het
E330021D16Rik	A	G	6: 136,401,242	S197P	probably damaging	Het
Elovl5	A	G	9: 77,976,899	N159S	probably damaging	Het
Fgfr3	T	C	5: 33,727,755	V71A	probably benign	Het
Frs2	A	T	10: 117,076,886	H167Q	probably damaging	Het
Gm3286	T	C	5: 95,519,894	V111A	probably benign	Het
Gm4553	A	T	7: 142,164,857	V278E	unknown	Het
Grin2d	A	T	7: 45,858,028	Y416*	probably null	Het
Hmcn1	A	T	1: 150,722,514	V1679E	probably benign	Het
Igkv18-36	T	C	6: 69,992,495	Y105C	probably damaging	Het
Lingo1	T	C	9: 56,619,850	D491G	probably damaging	Het
Map3k1	A	C	13: 111,749,047	I1445M	probably damaging	Het
Med30	A	T	15: 52,712,568	Q20L	probably damaging	Het
Mgat5b	A	G	11: 116,931,728	E96G	probably benign	Het
Mmp16	T	A	4: 17,853,854		probably null	Het
Mogat1	A	G	1: 78,527,618	D176G	possibly damaging	Het
Mre11a	T	A	9: 14,797,066	D142E	probably null	Het
Mybpc2	C	A	7: 44,509,830	V599L	probably benign	Het
Myot	A	T	18: 44,354,130	R345*	probably null	Het
Olfr419	T	G	1: 174,250,564	D121A	possibly damaging	Het
Olfr968	C	T	9: 39,771,904	V299I	probably benign	Het
Olfr975	G	A	9: 39,950,412	R120C	probably benign	Het
Pglyrp2	T	C	17: 32,416,029	Y453C	possibly damaging	Het
Phrf1	A	G	7: 141,256,580	Y255C	unknown	Het
Plppr4	A	G	3: 117,331,678	S171P	probably damaging	Het
Ppip5k1	A	T	2: 121,341,614		probably null	Het
Rapgef3	A	T	15: 97,760,740	H170Q	probably benign	Het
Rnf10	ACCTCATCTCGTC	AC	5: 115,260,117		probably null	Het
Rpe65	A	G	3: 159,624,699	Y501C	probably benign	Het
Ruvbl2	A	G	7: 45,422,772	I346T	probably damaging	Het
Sema3g	A	G	14: 31,220,585	I48V	probably benign	Het
Slc4a10	A	C	2: 62,243,448	S285R	possibly damaging	Het
Slc6a11	G	A	6: 114,245,606	G521S	probably benign	Het
Slit3	A	G	11: 35,664,076	N912D	probably benign	Het
Traf3ip1	T	C	1: 91,500,801	V128A	unknown	Het
Trpc7	T	A	13: 56,887,880	N80I	probably damaging	Het
Ttc21b	G	A	2: 66,201,480	H1031Y	probably benign	Het
Tubg2	A	T	11: 101,160,256	I235F	probably benign	Het
Vmn2r54	G	T	7: 12,632,091	C305*	probably null	Het
Vmn2r86	G	A	10: 130,453,084	H183Y	probably benign	Het
Vprbp	G	T	9: 106,857,916	V688L	probably damaging	Het
Xrcc5	T	C	1: 72,356,857	V603A	probably damaging	Het
Zfp110	T	A	7: 12,844,571	Y136*	probably null	Het
Zfp112	C	T	7: 24,125,638	P348S	probably benign	Het

Other mutations in Vmn2r118

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Vmn2r118	APN	17	55592708	missense	probably damaging	1.00
IGL00976:Vmn2r118	APN	17	55593204	missense	probably damaging	1.00
IGL01419:Vmn2r118	APN	17	55593000	missense	probably benign	0.01
IGL01796:Vmn2r118	APN	17	55608585	missense	probably benign	0.30
IGL01799:Vmn2r118	APN	17	55592990	missense	probably damaging	1.00
IGL02002:Vmn2r118	APN	17	55592619	missense	probably damaging	1.00
IGL02075:Vmn2r118	APN	17	55610517	missense	probably benign	0.18
IGL02172:Vmn2r118	APN	17	55624598	missense	probably benign	0.00
IGL02529:Vmn2r118	APN	17	55610870	missense	possibly damaging	0.58
IGL02712:Vmn2r118	APN	17	55592655	missense	probably benign	0.21
IGL03096:Vmn2r118	APN	17	55607996	missense	probably damaging	1.00
R0306:Vmn2r118	UTSW	17	55608616	missense	possibly damaging	0.89
R0329:Vmn2r118	UTSW	17	55610717	missense	probably damaging	1.00
R0330:Vmn2r118	UTSW	17	55610717	missense	probably damaging	1.00
R0396:Vmn2r118	UTSW	17	55608643	missense	probably benign	0.00
R0411:Vmn2r118	UTSW	17	55611021	splice site	probably benign
R0513:Vmn2r118	UTSW	17	55610970	nonsense	probably null
R0627:Vmn2r118	UTSW	17	55610772	missense	probably benign	0.01
R0638:Vmn2r118	UTSW	17	55608466	missense	probably benign	0.03
R1328:Vmn2r118	UTSW	17	55608620	missense	probably benign	0.01
R1366:Vmn2r118	UTSW	17	55593237	nonsense	probably null
R1465:Vmn2r118	UTSW	17	55610935	missense	probably benign	0.33
R1465:Vmn2r118	UTSW	17	55610935	missense	probably benign	0.33
R1511:Vmn2r118	UTSW	17	55608496	nonsense	probably null
R1515:Vmn2r118	UTSW	17	55610643	missense	probably benign	0.25
R1550:Vmn2r118	UTSW	17	55608083	missense	probably damaging	1.00
R1779:Vmn2r118	UTSW	17	55611530	missense	probably benign	0.03
R1834:Vmn2r118	UTSW	17	55592456	missense	probably damaging	1.00
R1840:Vmn2r118	UTSW	17	55610406	nonsense	probably null
R1854:Vmn2r118	UTSW	17	55611556	missense	possibly damaging	0.57
R1967:Vmn2r118	UTSW	17	55592882	missense	probably damaging	1.00
R1976:Vmn2r118	UTSW	17	55592925	missense	probably damaging	1.00
R2308:Vmn2r118	UTSW	17	55624650	missense	probably benign	0.33
R3700:Vmn2r118	UTSW	17	55608421	missense	possibly damaging	0.68
R4334:Vmn2r118	UTSW	17	55610347	missense	possibly damaging	0.58
R4647:Vmn2r118	UTSW	17	55610665	missense	probably damaging	1.00
R4709:Vmn2r118	UTSW	17	55610860	missense	probably damaging	1.00
R4805:Vmn2r118	UTSW	17	55592581	missense	probably damaging	1.00
R4858:Vmn2r118	UTSW	17	55592894	missense	probably damaging	0.98
R5384:Vmn2r118	UTSW	17	55611565	missense	probably benign	0.00
R5385:Vmn2r118	UTSW	17	55611565	missense	probably benign	0.00
R5664:Vmn2r118	UTSW	17	55592765	missense	possibly damaging	0.46
R5740:Vmn2r118	UTSW	17	55593103	missense	probably benign	0.00
R5927:Vmn2r118	UTSW	17	55624494	missense	probably benign	0.04
R6143:Vmn2r118	UTSW	17	55592871	missense	possibly damaging	0.92
R6513:Vmn2r118	UTSW	17	55608093	missense	probably damaging	1.00
R6573:Vmn2r118	UTSW	17	55592996	missense	probably damaging	1.00
R6760:Vmn2r118	UTSW	17	55592714	missense	possibly damaging	0.92
R6794:Vmn2r118	UTSW	17	55592348	missense	possibly damaging	0.48
R6929:Vmn2r118	UTSW	17	55610440	missense	probably benign	0.01
R7201:Vmn2r118	UTSW	17	55608496	nonsense	probably null
R7539:Vmn2r118	UTSW	17	55592853	missense	probably damaging	0.98
R7836:Vmn2r118	UTSW	17	55593242	missense	probably damaging	0.99
R8248:Vmn2r118	UTSW	17	55610936	missense	probably benign	0.18
R8347:Vmn2r118	UTSW	17	55610423	missense	possibly damaging	0.94
R8415:Vmn2r118	UTSW	17	55608057	missense	probably benign	0.08
R8428:Vmn2r118	UTSW	17	55608642	missense	probably benign	0.33
R8917:Vmn2r118	UTSW	17	55610216	missense	possibly damaging	0.82
R8993:Vmn2r118	UTSW	17	55610835	missense	possibly damaging	0.72
R9038:Vmn2r118	UTSW	17	55611649	missense	probably damaging	1.00
R9155:Vmn2r118	UTSW	17	55610207	missense	probably null	0.83
R9603:Vmn2r118	UTSW	17	55592837	missense	probably damaging	1.00
R9742:Vmn2r118	UTSW	17	55611009	missense	probably damaging	0.98
R9749:Vmn2r118	UTSW	17	55608415	critical splice donor site	probably null
R9792:Vmn2r118	UTSW	17	55592496	missense	probably damaging	0.99
R9793:Vmn2r118	UTSW	17	55592496	missense	probably damaging	0.99
R9795:Vmn2r118	UTSW	17	55592496	missense	probably damaging	0.99
X0022:Vmn2r118	UTSW	17	55593218	missense	probably damaging	1.00
Z1176:Vmn2r118	UTSW	17	55610655	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GTTCAGTACATATTATGCAACTGGC -3'
(R):5'- ACTAAAAGGCTCTCCCTGTAATAC -3'

Sequencing Primer
(F):5'- GCAACTGGCAGAATATTGTGAAAC -3'
(R):5'- AAAGGCTCTCCCTGTAATACATTTTC -3'

Posted On

2020-07-13