Mutagenetix > Incidental Mutation

Incidental Mutation 'R8415:Vmn2r118'

652917

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 #

R8415 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55592341-55624672 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 55608057 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 530 (L530I)

Ref Sequence

ENSEMBL: ENSMUSP00000131128 (fasta)

Gene Model

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

AlphaFold

E9Q1C1

Predicted Effect

probably benign
Transcript: ENSMUST00000168440
AA Change: L530I

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000131128
Gene: ENSMUSG00000091504
AA Change: L530I

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd24	A	G	10: 81,640,113	H317R	unknown	Het
Aox1	A	T	1: 58,041,479	Y29F	probably damaging	Het
Bnip2	T	C	9: 70,003,685	F304S	possibly damaging	Het
Bsn	G	A	9: 108,111,452	A2367V	probably benign	Het
Ccdc18	T	A	5: 108,216,033	V1198E	probably damaging	Het
Cnot3	T	C	7: 3,658,688	F660L	probably benign	Het
Cntnap3	A	G	13: 64,738,665	I1249T	probably benign	Het
Ctnna3	A	G	10: 63,504,130	I32V	probably benign	Het
D3Ertd254e	G	A	3: 36,165,033	G402S	probably damaging	Het
Dgkz	A	T	2: 91,940,304	S485T	possibly damaging	Het
Dpagt1	C	A	9: 44,327,185	N49K	possibly damaging	Het
Dsg3	A	T	18: 20,523,708	S212C	probably damaging	Het
Epb41l1	C	T	2: 156,526,953	A714V	probably benign	Het
Eppk1	A	G	15: 76,111,631	V350A	probably benign	Het
Frem1	T	G	4: 83,000,262	D481A	probably damaging	Het
Git2	T	C	5: 114,733,928	K532E	possibly damaging	Het
Glyr1	T	C	16: 5,036,465	H102R	probably benign	Het
Hdgfl2	C	T	17: 56,093,712	P160L	probably benign	Het
Hivep1	T	C	13: 42,155,429	S382P	probably benign	Het
Hmcn2	C	A	2: 31,391,076	L1867I	probably benign	Het
Hydin	G	A	8: 110,451,994	G1074R	probably damaging	Het
Ift140	A	G	17: 25,092,915	I1271V	probably damaging	Het
Krt28	T	A	11: 99,374,800	I14L	probably benign	Het
Lrtm2	A	T	6: 119,317,497	D224E	probably damaging	Het
Map1s	G	A	8: 70,913,266	V272M	probably damaging	Het
Mast3	A	G	8: 70,781,222	Y960H	probably damaging	Het
Mettl25	G	T	10: 105,826,141	Q323K	probably benign	Het
Mlh3	A	T	12: 85,269,080	S111T	probably benign	Het
Muc3	A	G	5: 137,143,950	L85P		Het
Myh6	C	G	14: 54,944,378	R1822P	probably damaging	Het
Myof	C	T	19: 37,995,424	G144E	probably benign	Het
Nat8f2	A	G	6: 85,868,042	S113P	probably damaging	Het
Nlrp9a	A	T	7: 26,557,500	Y181F	probably benign	Het
Nup85	A	G	11: 115,566,642	I57V	probably benign	Het
Olfr1185-ps1	T	A	2: 88,499,366	C94S	probably damaging	Het
Olfr507	C	T	7: 108,621,956	T48I	probably damaging	Het
Olfr862	T	A	9: 19,884,113	Y64F	possibly damaging	Het
Pcdhb2	A	G	18: 37,296,057	N361S	probably damaging	Het
Peg10	T	TCCA	6: 4,756,451		probably benign	Het
Phf20	C	T	2: 156,287,993	T495M	probably benign	Het
Pih1d3	A	G	1: 31,223,483	N182S	probably benign	Het
Pitpnm1	T	C	19: 4,105,454	M368T	probably benign	Het
Pter	A	G	2: 13,000,889	D291G	probably damaging	Het
Rasgrp2	T	G	19: 6,404,751	V207G	probably damaging	Het
Rnd2	A	T	11: 101,471,185	Q188L	probably benign	Het
Sh3d19	T	A	3: 86,085,056	D130E	probably benign	Het
Slc7a2	A	T	8: 40,916,359	Y617F	probably damaging	Het
Snx29	T	C	16: 11,447,427	L165P	probably damaging	Het
St7	T	C	6: 17,848,081		probably null	Het
Tas2r115	A	G	6: 132,737,835	L51P	probably damaging	Het
Tead1	C	A	7: 112,856,928	P164Q	probably benign	Het
Thop1	A	G	10: 81,078,551	Y224C	probably damaging	Het
Twf1	T	C	15: 94,579,821	*351W	probably null	Het
Uck1	C	A	2: 32,260,141		probably benign	Het
Utp20	A	G	10: 88,826,604		probably null	Het
Vmn2r30	A	T	7: 7,312,360	C825S	probably damaging	Het
Vps13d	A	T	4: 145,091,979	M3106K		Het
Wfdc15a	A	T	2: 164,199,751	C51S	probably damaging	Het
Zc3hc1	T	C	6: 30,375,952	D203G	probably damaging	Het
Zfhx2	G	T	14: 55,070,622	D932E	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
R8179:Vmn2r118	UTSW	17	55608484	missense	probably benign	0.36
R8248:Vmn2r118	UTSW	17	55610936	missense	probably benign	0.18
R8347:Vmn2r118	UTSW	17	55610423	missense	possibly damaging	0.94
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'- CATCTCAAGACATCTGTGTTCCA -3'
(R):5'- GCAATTGCACTAAATTCAATTTGTTC -3'

Sequencing Primer
(F):5'- GGTTTTATGCCCACAGAAGC -3'
(R):5'- CAATATTCTGCCAGTTGCA -3'

Posted On

2020-10-20