Mutagenetix > Incidental Mutation

Incidental Mutation 'R4858:Vmn2r118'

372272

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r118

Ensembl Gene

ENSMUSG00000091504

Gene Name

vomeronasal 2, receptor 118

Synonyms

EG383258, Vmn2r119, EG668547

MMRRC Submission

042469-MU

Accession Numbers

Essential gene?

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

Stock #

R4858 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55592341-55624672 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55592894 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 670 (V670A)

Ref Sequence

ENSEMBL: ENSMUSP00000131128 (fasta)

Gene Model

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

AlphaFold

E9Q1C1

Predicted Effect

probably damaging
Transcript: ENSMUST00000168440
AA Change: V670A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131128
Gene: ENSMUSG00000091504
AA Change: V670A

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.5%

Validation Efficiency

94% (103/109)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	C	10: 10,349,577	Y1415C	probably damaging	Het
Adgrf1	T	C	17: 43,303,672	S216P	probably damaging	Het
Ankrd12	T	C	17: 66,031,433	D197G	probably damaging	Het
Aoc3	C	A	11: 101,331,662	H198Q	probably damaging	Het
Aox1	C	A	1: 58,104,481	H1253N	probably benign	Het
Arg1	T	A	10: 24,922,638	E38V	possibly damaging	Het
Baz2b	T	A	2: 59,907,743	M1741L	probably benign	Het
Bend4	T	C	5: 67,417,572	E322G	probably damaging	Het
Brpf1	T	C	6: 113,317,678	V661A	possibly damaging	Het
C2cd3	A	T	7: 100,454,953	T2058S	probably damaging	Het
Camk4	T	C	18: 33,176,213	V223A	probably damaging	Het
Casp1	C	T	9: 5,306,742	R395C	probably damaging	Het
Ccdc180	T	G	4: 45,923,244	I1066S	probably damaging	Het
Ccne1	A	G	7: 38,099,319	F292L	probably damaging	Het
Ccz1	A	T	5: 144,012,810	M100K	probably damaging	Het
Cep128	T	C	12: 91,260,162	T678A	probably benign	Het
Cep290	G	A	10: 100,494,911	R151Q	probably benign	Het
Crip3	A	G	17: 46,430,747		probably benign	Het
Ddx60	A	G	8: 62,021,314	M1479V	possibly damaging	Het
Defb40	T	A	8: 18,975,077	I38F	probably benign	Het
Diexf	A	G	1: 193,113,764	Y686H	probably damaging	Het
Dnajb2	C	T	1: 75,243,554	T221I	possibly damaging	Het
Dpcr1	G	A	17: 35,637,576	T377I	possibly damaging	Het
Dpysl3	T	C	18: 43,334,014	I279V	probably damaging	Het
Echs1	G	A	7: 140,112,586		probably benign	Het
Efl1	T	A	7: 82,671,627	N89K	probably damaging	Het
Extl3	T	C	14: 65,075,994	T580A	probably benign	Het
Fam171a2	C	T	11: 102,440,156	G193E	probably damaging	Het
Fam234a	A	T	17: 26,216,617	D264E	probably benign	Het
Fbxw20	A	T	9: 109,234,695	V3D	possibly damaging	Het
Fig4	G	A	10: 41,233,590	P637L	probably benign	Het
Fnbp1l	G	A	3: 122,546,315	T496I	probably benign	Het
Fry	T	C	5: 150,401,643	V1175A	possibly damaging	Het
Gm5617	C	T	9: 48,495,668	A34V	possibly damaging	Het
Gnai1	A	T	5: 18,291,598	V109E	probably benign	Het
H2-K1	A	T	17: 33,997,324	Y283N	probably benign	Het
Hectd2	A	T	19: 36,605,282	I471F	probably damaging	Het
Hsdl2	T	C	4: 59,612,812		probably null	Het
Igkv3-1	T	C	6: 70,704,044	S76P	probably damaging	Het
Krt15	A	T	11: 100,132,071	S439R	probably benign	Het
Lama2	TTTGCGCATT	TTT	10: 27,043,643		probably null	Het
Lima1	G	A	15: 99,819,576	T23I	probably benign	Het
Map4k1	C	A	7: 28,988,770	H248Q	probably damaging	Het
Mcf2l	C	A	8: 13,013,972	T1004K	probably damaging	Het
Micall1	T	A	15: 79,122,946		probably benign	Het
Ms4a14	A	G	19: 11,301,612	I1194T	probably benign	Het
Mtor	T	C	4: 148,454,816	*257Q	probably null	Het
Ncan	T	A	8: 70,104,055	T961S	probably benign	Het
Olfr1100	T	G	2: 86,978,349	Y149S	probably damaging	Het
Olfr161	T	C	16: 3,592,842	S149P	probably damaging	Het
Olfr311	T	A	11: 58,841,207	L31H	possibly damaging	Het
Olfr331	T	A	11: 58,501,909	I216F	probably damaging	Het
Olfr389	T	A	11: 73,776,546	L260F	probably benign	Het
Olfr419	A	T	1: 174,250,696	I77N	probably damaging	Het
Pcdhgb2	A	G	18: 37,692,100	R715G	probably benign	Het
Pik3c3	T	C	18: 30,344,078		probably null	Het
Pkhd1l1	A	T	15: 44,491,101	D296V	probably damaging	Het
Plekhh2	A	G	17: 84,600,697	I1189V	probably damaging	Het
Psg18	A	T	7: 18,353,484	L83Q	possibly damaging	Het
Rps6kc1	A	G	1: 190,800,318	W496R	probably damaging	Het
Setd5	C	T	6: 113,149,566	T1188I	probably damaging	Het
Slc4a3	T	C	1: 75,555,085	F899L	probably damaging	Het
Slitrk6	T	C	14: 110,751,883	T131A	probably damaging	Het
Speg	G	T	1: 75,421,735	R1942L	probably damaging	Het
Sulf2	C	A	2: 166,081,604	R565L	probably benign	Het
Tcerg1	T	C	18: 42,523,981	M176T	unknown	Het
Tfcp2l1	T	C	1: 118,669,509	I440T	possibly damaging	Het
Tgm7	A	T	2: 121,098,964		probably null	Het
Tjp2	C	A	19: 24,122,120	G433V	probably damaging	Het
Tldc1	T	G	8: 119,772,523	T77P	probably benign	Het
Tmc7	C	T	7: 118,543,342	G608R	probably damaging	Het
Tmed4	A	G	11: 6,274,456	F68S	possibly damaging	Het
Tmem30b	G	A	12: 73,545,912	P143L	probably damaging	Het
Tnfrsf23	C	T	7: 143,681,480	C49Y	probably damaging	Het
Tnni3k	A	T	3: 154,786,808		probably null	Het
Trav12-2	G	T	14: 53,616,693	M41I	probably benign	Het
Trim6	T	A	7: 104,232,485	Y314*	probably null	Het
Ttc25	A	G	11: 100,550,321	N126S	probably damaging	Het
Zfp438	A	T	18: 5,213,154	D601E	probably benign	Het
Zfp606	T	A	7: 12,493,056	I310N	possibly damaging	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
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
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'- TGCACATAATGATGATGTGGCC -3'
(R):5'- TGGCTTATGCAGACCCATTAGG -3'

Sequencing Primer
(F):5'- CATAATGATGATGTGGCCATGTTCAG -3'
(R):5'- TCTTTGTGAAAAACCAATACACTCC -3'

Posted On

2016-03-01