Mutagenetix > Incidental Mutation

Incidental Mutation 'R6143:Vmn2r118'

488710

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r118

Ensembl Gene

ENSMUSG00000091504

Gene Name

vomeronasal 2, receptor 118

Synonyms

EG383258, Vmn2r119, EG668547

MMRRC Submission

044290-MU

Accession Numbers

Essential gene?

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

Stock #

R6143 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55592341-55624672 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 55592871 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 678 (L678I)

Ref Sequence

ENSEMBL: ENSMUSP00000131128 (fasta)

Gene Model

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

AlphaFold

E9Q1C1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168440
AA Change: L678I

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131128
Gene: ENSMUSG00000091504
AA Change: L678I

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: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730061H03Rik	A	G	14: 55,560,279		probably benign	Het
Abcd2	A	T	15: 91,190,947	V221E	possibly damaging	Het
Arhgap39	T	A	15: 76,730,406	K853*	probably null	Het
Art2a-ps	T	C	7: 101,555,223	D36G	possibly damaging	Het
Atp13a1	C	T	8: 69,805,360	P922S	probably benign	Het
Brwd1	C	T	16: 96,002,956	G2005R	probably benign	Het
Bzw2	A	T	12: 36,120,726	M133K	probably benign	Het
Cacna1s	T	G	1: 136,076,758	S346A	probably damaging	Het
Cebpb	C	A	2: 167,689,300	D93E	probably benign	Het
Cep162	C	A	9: 87,212,851		probably null	Het
Col9a2	A	T	4: 121,053,863	Y565F	probably damaging	Het
Csgalnact1	T	A	8: 68,373,550	N372I	probably damaging	Het
Csmd1	T	C	8: 16,088,301	D1579G	probably damaging	Het
Cyfip2	A	C	11: 46,253,965	Y687*	probably null	Het
Cyp2d34	G	A	15: 82,620,776	R28W	probably benign	Het
Dbndd2	C	A	2: 164,488,286	Q13K	probably damaging	Het
Dnah5	T	A	15: 28,233,231	S245R	probably benign	Het
Dnajb5	A	T	4: 42,956,990	T226S	probably damaging	Het
Dnmt1	T	C	9: 20,927,134	E211G	probably benign	Het
Dnpep	G	A	1: 75,315,228	H214Y	probably damaging	Het
Drc3	G	A	11: 60,370,580	V186M	possibly damaging	Het
Dvl3	A	G	16: 20,527,039	D413G	possibly damaging	Het
Dyrk4	C	T	6: 126,886,651		probably null	Het
Edc4	T	A	8: 105,885,874	D181E	probably damaging	Het
Enthd1	T	C	15: 80,509,286	Y247C	possibly damaging	Het
Gm5622	A	T	14: 51,654,915	R50S	possibly damaging	Het
Gpbp1	G	A	13: 111,466,855	T20I	probably damaging	Het
Hnrnpdl	A	T	5: 100,036,551	Y276*	probably null	Het
Hsd3b7	A	C	7: 127,801,232	E51A	probably damaging	Het
Ighv5-16	G	T	12: 113,838,618	F87L	probably damaging	Het
Iqsec1	C	T	6: 90,809,684		probably null	Het
Irgm2	A	T	11: 58,220,609	E387D	possibly damaging	Het
Klhl23	C	A	2: 69,833,696	P463Q	possibly damaging	Het
Mast4	A	T	13: 102,853,883	N43K	probably damaging	Het
Mme	T	G	3: 63,300,111		probably null	Het
Mrps31	T	G	8: 22,411,523	S20A	probably benign	Het
Myo5c	A	G	9: 75,249,809	R176G	probably damaging	Het
Naf1	T	C	8: 66,877,695	V291A	possibly damaging	Het
Nbeal1	A	T	1: 60,251,307	H1021L	possibly damaging	Het
Ncaph2	T	C	15: 89,364,003		probably null	Het
Neurod4	T	G	10: 130,271,000	Y135S	probably damaging	Het
Nrp2	A	T	1: 62,760,815	N396I	probably damaging	Het
Nvl	T	G	1: 181,134,995	T137P	probably benign	Het
Olfr483	A	G	7: 108,104,128	D273G	probably damaging	Het
Papola	T	C	12: 105,826,960	V513A	probably benign	Het
Pcdhgc4	T	A	18: 37,817,600	S690T	possibly damaging	Het
Pck1	A	T	2: 173,154,012	D101V	probably damaging	Het
Pdilt	T	A	7: 119,495,042	N329Y	probably damaging	Het
Pfkl	T	A	10: 77,989,613	R648W	probably damaging	Het
Prtn3	T	A	10: 79,880,548	I63N	probably damaging	Het
Psg22	C	T	7: 18,722,798	A163V	probably benign	Het
Pten	A	G	19: 32,800,085	T160A	possibly damaging	Het
Retreg2	A	G	1: 75,146,886	D449G	probably damaging	Het
Scn9a	T	C	2: 66,487,524	Y1531C	probably benign	Het
Sgk2	T	A	2: 162,999,254	C195S	probably damaging	Het
Slc19a3	C	T	1: 83,026,339	V14I	probably benign	Het
Snai2	A	T	16: 14,708,243	R253*	probably null	Het
Speg	G	A	1: 75,414,387	V1512I	probably damaging	Het
Srsf1	G	A	11: 88,049,599		probably benign	Het
Tctn3	G	T	19: 40,609,227	T190N	probably benign	Het
Tmprss11f	T	A	5: 86,539,699	I117L	probably benign	Het
Ttn	G	A	2: 76,852,069	R959*	probably null	Het
Vps13b	T	C	15: 35,668,738	S1594P	probably damaging	Het
Vps13d	G	T	4: 145,148,565	H1791N	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
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
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'- TCCCAGCACAGAGTAGAAGG -3'
(R):5'- CCCATTGTGAAAGCTAATAACCGC -3'

Sequencing Primer
(F):5'- ATAAGTGAGCCCTTGTTGCAC -3'
(R):5'- TTGTGAAAGCTAATAACCGCACTCTC -3'

Posted On

2017-10-10