Mutagenetix > Incidental Mutation

Incidental Mutation 'R4776:Vmn2r4'

367899

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r4

Ensembl Gene

ENSMUSG00000092049

Gene Name

vomeronasal 2, receptor 4

Synonyms

EG637053

MMRRC Submission

042413-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R4776 (G1)

Quality Score

153

Status

Not validated

Chromosome

Chromosomal Location

64388621-64415296 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 64388661 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 901 (E901G)

Ref Sequence

ENSEMBL: ENSMUSP00000135228 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170280] [ENSMUST00000175724]

AlphaFold

K7N784

Predicted Effect

probably damaging
Transcript: ENSMUST00000170280
AA Change: E812G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000127513
Gene: ENSMUSG00000092049
AA Change: E812G

Domain	Start	End	E-Value	Type
Pfam:ANF_receptor	1	416	2.7e-72	PFAM
Pfam:Peripla_BP_6	61	240	1.9e-9	PFAM
Pfam:NCD3G	458	511	1.1e-17	PFAM
Pfam:7tm_3	542	779	1.8e-75	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000175724
AA Change: E901G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135228
Gene: ENSMUSG00000092049
AA Change: E901G

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:ANF_receptor	88	505	2.3e-75	PFAM
Pfam:NCD3G	547	600	4.7e-17	PFAM
Pfam:7tm_3	633	867	8.2e-47	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

98% (94/96)

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	A	T	10: 76,457,512 (GRCm38)	M156L	probably benign	Het
4930470P17Rik	C	T	2: 170,579,724 (GRCm38)	A79T	unknown	Het
4930522L14Rik	A	G	5: 109,736,873 (GRCm38)	I373T	probably benign	Het
A830010M20Rik	C	A	5: 107,510,451 (GRCm38)	A1117E	probably damaging	Het
Amotl1	G	A	9: 14,593,373 (GRCm38)	Q217*	probably null	Het
Ankrd28	A	T	14: 31,732,054 (GRCm38)	C254S	probably damaging	Het
Ap2a1	A	G	7: 44,901,546 (GRCm38)		probably benign	Het
Arfgef3	A	T	10: 18,654,247 (GRCm38)	S245T	probably benign	Het
Atp1b2	A	T	11: 69,601,561 (GRCm38)	D224E	probably damaging	Het
Bmal1	A	T	7: 113,285,037 (GRCm38)	K94I	probably damaging	Het
Boc	G	A	16: 44,487,721 (GRCm38)	R924W	probably damaging	Het
Car14	C	T	3: 95,898,873 (GRCm38)	G292D	probably benign	Het
Cenpb	T	C	2: 131,178,183 (GRCm38)		probably benign	Het
Ces1b	A	T	8: 93,063,030 (GRCm38)	D423E	possibly damaging	Het
Cfap54	T	A	10: 92,972,694 (GRCm38)	N1373I	possibly damaging	Het
Chrdl2	T	C	7: 100,006,541 (GRCm38)		probably benign	Het
Cic	T	G	7: 25,282,883 (GRCm38)	S12A	possibly damaging	Het
Csmd2	A	T	4: 128,442,892 (GRCm38)	Q1421L	probably benign	Het
D630039A03Rik	T	C	4: 57,910,452 (GRCm38)	H120R	possibly damaging	Het
Dicer1	T	A	12: 104,692,446 (GRCm38)	D1779V	probably damaging	Het
Dock9	G	T	14: 121,610,097 (GRCm38)	H1016N	possibly damaging	Het
Dxo	T	C	17: 34,838,998 (GRCm38)	L352P	probably damaging	Het
Eif2b5	T	A	16: 20,500,233 (GRCm38)	F78I	probably damaging	Het
Eri2	A	G	7: 119,784,946 (GRCm38)		probably benign	Het
Fbxw7	T	G	3: 84,925,689 (GRCm38)	L13V	possibly damaging	Het
Fgf7	T	A	2: 126,035,783 (GRCm38)	C23*	probably null	Het
Fubp1	T	A	3: 152,222,068 (GRCm38)		probably null	Het
Gm2663	A	T	6: 40,995,953 (GRCm38)	I240N	probably damaging	Het
Gnb1l	C	T	16: 18,548,096 (GRCm38)	Q140*	probably null	Het
Gnptab	G	A	10: 88,436,528 (GRCm38)	R1010Q	probably damaging	Het
Gtf2h1	G	A	7: 46,822,878 (GRCm38)	W544*	probably null	Het
Gucy2c	C	T	6: 136,722,514 (GRCm38)	E586K	probably damaging	Het
Hc	T	A	2: 35,039,734 (GRCm38)	E232V	probably benign	Het
Ifi207	T	A	1: 173,730,056 (GRCm38)	D372V	unknown	Het
Igkv8-28	A	T	6: 70,144,118 (GRCm38)	V15E	probably benign	Het
Il1rap	A	G	16: 26,692,799 (GRCm38)	S198G	possibly damaging	Het
Lct	A	G	1: 128,300,387 (GRCm38)	I1123T	probably damaging	Het
Lhcgr	T	C	17: 88,742,697 (GRCm38)	E467G	probably damaging	Het
Macf1	C	T	4: 123,476,015 (GRCm38)	R86K	probably benign	Het
Maml3	T	A	3: 51,856,532 (GRCm38)	Q337L	probably benign	Het
Marchf10	T	A	11: 105,390,037 (GRCm38)	D474V	probably benign	Het
Marchf2	G	T	17: 33,709,916 (GRCm38)	T2K	probably damaging	Het
Mast1	A	G	8: 84,937,193 (GRCm38)		probably null	Het
Med12l	T	C	3: 59,233,212 (GRCm38)	I868T	probably damaging	Het
Msrb1	T	C	17: 24,740,173 (GRCm38)	S100P	probably damaging	Het
Nlrp4c	T	C	7: 6,066,126 (GRCm38)	L342P	probably benign	Het
Nrxn3	T	A	12: 90,331,956 (GRCm38)	V417E	possibly damaging	Het
Ntng1	T	A	3: 109,934,713 (GRCm38)	D248V	probably damaging	Het
Oaz3	T	C	3: 94,434,998 (GRCm38)	Q117R	probably benign	Het
Or2a56	A	G	6: 42,955,521 (GRCm38)	I8V	probably benign	Het
Or4f58	A	G	2: 112,020,931 (GRCm38)	Y308H	probably benign	Het
Or52e2	A	G	7: 103,155,414 (GRCm38)	L111P	probably benign	Het
Osbpl3	A	C	6: 50,300,973 (GRCm38)	S767A	probably benign	Het
Pafah1b1	A	T	11: 74,685,871 (GRCm38)		probably benign	Het
Pard6b	A	G	2: 168,098,788 (GRCm38)	T232A	probably damaging	Het
Paxip1	A	T	5: 27,765,206 (GRCm38)	C596S	probably damaging	Het
Pnpla6	T	C	8: 3,523,818 (GRCm38)	V422A	probably benign	Het
Psmd6	A	T	14: 14,120,932 (GRCm38)		probably benign	Het
Relch	T	A	1: 105,719,535 (GRCm38)	Y683*	probably null	Het
Rock2	T	A	12: 16,977,740 (GRCm38)	C1353S	probably damaging	Het
Rpl31-ps17	C	T	12: 54,701,612 (GRCm38)		noncoding transcript	Het
Sel1l	T	A	12: 91,813,893 (GRCm38)	H658L	probably damaging	Het
Sh3yl1	T	A	12: 30,940,314 (GRCm38)	L105Q	probably damaging	Het
Shroom3	G	T	5: 92,943,086 (GRCm38)	V1151F	probably damaging	Het
Sirt1	T	C	10: 63,335,722 (GRCm38)	K227E	probably benign	Het
Slc25a34	A	T	4: 141,623,588 (GRCm38)	F37I	possibly damaging	Het
Slc39a5	T	A	10: 128,397,049 (GRCm38)	I378F	probably damaging	Het
Smarcad1	A	T	6: 65,098,824 (GRCm38)	D731V	probably null	Het
Sox6	T	G	7: 115,541,670 (GRCm38)	K483N	probably damaging	Het
Sp140	T	A	1: 85,610,828 (GRCm38)	D95E	possibly damaging	Het
Srgap1	G	T	10: 121,792,351 (GRCm38)	D882E	probably benign	Het
Syne4	T	C	7: 30,316,833 (GRCm38)		probably benign	Het
Tasor2	A	G	13: 3,570,391 (GRCm38)	F2170S	probably damaging	Het
Tec	T	C	5: 72,768,776 (GRCm38)	Y289C	probably benign	Het
Tmem102	A	T	11: 69,804,802 (GRCm38)	Y115N	probably damaging	Het
Tns2	C	T	15: 102,108,934 (GRCm38)	R281C	probably damaging	Het
Trav17	T	A	14: 53,806,640 (GRCm38)	M1K	probably null	Het
Trdn	T	A	10: 33,399,082 (GRCm38)		probably null	Het
Trp53	A	T	11: 69,586,921 (GRCm38)	I8F	probably benign	Het
Ttn	T	A	2: 76,754,662 (GRCm38)	D22064V	probably damaging	Het
Ube3c	G	A	5: 29,632,838 (GRCm38)		probably null	Het
Ulk1	C	T	5: 110,788,947 (GRCm38)		probably null	Het
Upp1	T	C	11: 9,135,976 (GRCm38)	V271A	probably damaging	Het
Vmn2r96	G	A	17: 18,597,508 (GRCm38)	G449D	probably damaging	Het
Vps37b	T	C	5: 124,006,612 (GRCm38)	K165E	probably damaging	Het
Vwf	A	T	6: 125,566,305 (GRCm38)	I185F	possibly damaging	Het
Wasf2	A	G	4: 133,185,004 (GRCm38)	T56A	probably benign	Het
Zdhhc23	C	G	16: 43,973,589 (GRCm38)	D241H	possibly damaging	Het
Zfp276	T	C	8: 123,254,884 (GRCm38)	S57P	probably benign	Het
Zxdc	A	G	6: 90,370,518 (GRCm38)	H287R	probably damaging	Het

Other mutations in Vmn2r4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01310:Vmn2r4	APN	3	64,409,779 (GRCm38)	splice site	probably null
IGL01448:Vmn2r4	APN	3	64,406,395 (GRCm38)	missense	probably damaging	0.99
IGL01452:Vmn2r4	APN	3	64,406,395 (GRCm38)	missense	probably damaging	0.99
IGL01454:Vmn2r4	APN	3	64,406,395 (GRCm38)	missense	probably damaging	0.99
IGL01456:Vmn2r4	APN	3	64,406,395 (GRCm38)	missense	probably damaging	0.99
IGL01463:Vmn2r4	APN	3	64,406,395 (GRCm38)	missense	probably damaging	0.99
IGL01467:Vmn2r4	APN	3	64,406,395 (GRCm38)	missense	probably damaging	0.99
IGL01468:Vmn2r4	APN	3	64,406,395 (GRCm38)	missense	probably damaging	0.99
IGL01470:Vmn2r4	APN	3	64,406,395 (GRCm38)	missense	probably damaging	0.99
IGL01476:Vmn2r4	APN	3	64,406,395 (GRCm38)	missense	probably damaging	0.99
IGL01481:Vmn2r4	APN	3	64,406,395 (GRCm38)	missense	probably damaging	0.99
IGL01534:Vmn2r4	APN	3	64,406,423 (GRCm38)	missense	probably damaging	1.00
IGL01636:Vmn2r4	APN	3	64,406,236 (GRCm38)	missense	probably benign	0.21
IGL01879:Vmn2r4	APN	3	64,391,010 (GRCm38)	missense	probably damaging	1.00
IGL02147:Vmn2r4	APN	3	64,398,361 (GRCm38)	splice site	probably benign
IGL02276:Vmn2r4	APN	3	64,406,456 (GRCm38)	missense	possibly damaging	0.95
IGL02432:Vmn2r4	APN	3	64,406,400 (GRCm38)	missense	probably benign	0.38
IGL02533:Vmn2r4	APN	3	64,398,419 (GRCm38)	nonsense	probably null
IGL02655:Vmn2r4	APN	3	64,398,465 (GRCm38)	missense	probably damaging	0.97
IGL02666:Vmn2r4	APN	3	64,389,012 (GRCm38)	missense	probably benign	0.10
IGL02902:Vmn2r4	APN	3	64,406,916 (GRCm38)	missense	probably benign	0.22
IGL03189:Vmn2r4	APN	3	64,389,168 (GRCm38)	missense	possibly damaging	0.89
IGL03250:Vmn2r4	APN	3	64,406,642 (GRCm38)	missense	probably damaging	1.00
IGL03271:Vmn2r4	APN	3	64,398,429 (GRCm38)	missense	probably benign	0.01
R0310:Vmn2r4	UTSW	3	64,389,434 (GRCm38)	nonsense	probably null
R0504:Vmn2r4	UTSW	3	64,389,363 (GRCm38)	missense	probably damaging	1.00
R1546:Vmn2r4	UTSW	3	64,406,888 (GRCm38)	missense	probably damaging	1.00
R1562:Vmn2r4	UTSW	3	64,389,444 (GRCm38)	missense	probably damaging	0.98
R1863:Vmn2r4	UTSW	3	64,406,989 (GRCm38)	missense	probably benign	0.33
R1873:Vmn2r4	UTSW	3	64,391,058 (GRCm38)	missense	possibly damaging	0.93
R1939:Vmn2r4	UTSW	3	64,398,555 (GRCm38)	missense	probably benign	0.00
R2103:Vmn2r4	UTSW	3	64,415,283 (GRCm38)	missense	possibly damaging	0.48
R3083:Vmn2r4	UTSW	3	64,389,367 (GRCm38)	missense	probably damaging	1.00
R3687:Vmn2r4	UTSW	3	64,389,475 (GRCm38)	missense	possibly damaging	0.93
R3707:Vmn2r4	UTSW	3	64,389,474 (GRCm38)	missense	probably damaging	0.99
R3963:Vmn2r4	UTSW	3	64,415,151 (GRCm38)	missense	probably damaging	0.99
R4428:Vmn2r4	UTSW	3	64,415,169 (GRCm38)	missense	probably damaging	1.00
R4710:Vmn2r4	UTSW	3	64,409,780 (GRCm38)	critical splice donor site	probably null
R4737:Vmn2r4	UTSW	3	64,409,963 (GRCm38)	missense	probably damaging	1.00
R4767:Vmn2r4	UTSW	3	64,390,976 (GRCm38)	missense	probably damaging	0.99
R4834:Vmn2r4	UTSW	3	64,410,063 (GRCm38)	missense	probably benign	0.40
R4893:Vmn2r4	UTSW	3	64,406,255 (GRCm38)	missense	probably damaging	0.96
R4908:Vmn2r4	UTSW	3	64,389,055 (GRCm38)	missense	possibly damaging	0.59
R5049:Vmn2r4	UTSW	3	64,398,598 (GRCm38)	splice site	probably null
R5092:Vmn2r4	UTSW	3	64,390,952 (GRCm38)	missense	probably benign	0.01
R5234:Vmn2r4	UTSW	3	64,398,457 (GRCm38)	missense	possibly damaging	0.88
R5240:Vmn2r4	UTSW	3	64,406,937 (GRCm38)	missense	possibly damaging	0.53
R5704:Vmn2r4	UTSW	3	64,409,949 (GRCm38)	missense	probably benign	0.03
R5897:Vmn2r4	UTSW	3	64,415,266 (GRCm38)	nonsense	probably null
R5907:Vmn2r4	UTSW	3	64,391,066 (GRCm38)	missense	probably damaging	0.99
R5924:Vmn2r4	UTSW	3	64,389,264 (GRCm38)	missense	probably damaging	1.00
R6145:Vmn2r4	UTSW	3	64,406,943 (GRCm38)	missense	probably benign	0.00
R6191:Vmn2r4	UTSW	3	64,415,281 (GRCm38)	missense	probably benign	0.34
R6192:Vmn2r4	UTSW	3	64,415,278 (GRCm38)	missense	probably benign	0.00
R6207:Vmn2r4	UTSW	3	64,406,505 (GRCm38)	missense	probably damaging	1.00
R6457:Vmn2r4	UTSW	3	64,409,957 (GRCm38)	missense	probably damaging	1.00
R6533:Vmn2r4	UTSW	3	64,415,098 (GRCm38)	missense	probably benign
R6545:Vmn2r4	UTSW	3	64,406,356 (GRCm38)	missense	possibly damaging	0.50
R6594:Vmn2r4	UTSW	3	64,389,310 (GRCm38)	missense	probably damaging	1.00
R7049:Vmn2r4	UTSW	3	64,389,129 (GRCm38)	missense	probably benign	0.14
R7150:Vmn2r4	UTSW	3	64,398,477 (GRCm38)	missense	probably benign	0.01
R7187:Vmn2r4	UTSW	3	64,415,260 (GRCm38)	missense	probably benign	0.00
R7363:Vmn2r4	UTSW	3	64,407,011 (GRCm38)	missense	probably damaging	1.00
R7477:Vmn2r4	UTSW	3	64,398,429 (GRCm38)	missense	probably benign	0.01
R7675:Vmn2r4	UTSW	3	64,415,236 (GRCm38)	missense	probably benign	0.01
R7858:Vmn2r4	UTSW	3	64,409,805 (GRCm38)	missense	probably benign	0.00
R7888:Vmn2r4	UTSW	3	64,406,522 (GRCm38)	missense	probably damaging	0.99
R8678:Vmn2r4	UTSW	3	64,406,970 (GRCm38)	missense	probably benign
R8743:Vmn2r4	UTSW	3	64,409,826 (GRCm38)	missense	possibly damaging	0.95
R8841:Vmn2r4	UTSW	3	64,406,637 (GRCm38)	missense	probably damaging	0.97
R9671:Vmn2r4	UTSW	3	64,409,850 (GRCm38)	missense	probably benign	0.00
R9778:Vmn2r4	UTSW	3	64,415,076 (GRCm38)	missense	probably benign	0.15
X0019:Vmn2r4	UTSW	3	64,406,636 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GAAATGGTTTCCAATTTCATTGATGT -3'
(R):5'- GTGGCTGTGGAAATATTTGCCATT -3'

Sequencing Primer
(F):5'- CCCCAATATTACCCATGAGC -3'
(R):5'- CCATTTTGGCATCTAGCTATGG -3'

Posted On

2015-12-29