Mutagenetix > Incidental Mutation

Incidental Mutation 'R6545:Vmn2r4'

521077

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r4

Ensembl Gene

ENSMUSG00000092049

Gene Name

vomeronasal 2, receptor 4

Synonyms

EG637053

MMRRC Submission

044671-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R6545 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64295982-64322741 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 64313777 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 401 (D401E)

Ref Sequence

ENSEMBL: ENSMUSP00000135228 (fasta)

Gene Model

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

AlphaFold

K7N784

Predicted Effect

probably benign
Transcript: ENSMUST00000170280
AA Change: D312E

PolyPhen 2 Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000127513
Gene: ENSMUSG00000092049
AA Change: D312E

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

possibly damaging
Transcript: ENSMUST00000175724
AA Change: D401E

PolyPhen 2 Score 0.496 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000135228
Gene: ENSMUSG00000092049
AA Change: D401E

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: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.6%

Validation Efficiency

95% (42/44)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago1	C	T	4: 126,348,145 (GRCm39)	A58T	possibly damaging	Het
Ago4	T	A	4: 126,405,811 (GRCm39)	Q366L	probably benign	Het
Card10	C	A	15: 78,661,010 (GRCm39)	G950V	probably damaging	Het
Ceacam1	A	T	7: 25,173,279 (GRCm39)	V303D	probably damaging	Het
Cfap54	C	T	10: 92,672,319 (GRCm39)	R2917H	probably benign	Het
Cit	A	G	5: 115,984,493 (GRCm39)	S22G	probably null	Het
Cog4	A	G	8: 111,607,577 (GRCm39)	E666G	probably damaging	Het
Crocc2	A	G	1: 93,140,659 (GRCm39)	D1103G	probably benign	Het
Cttnbp2	A	T	6: 18,405,278 (GRCm39)		probably null	Het
Dctn3	T	C	4: 41,723,084 (GRCm39)	E16G	probably damaging	Het
Dnah6	A	G	6: 73,021,715 (GRCm39)	S3536P	probably damaging	Het
Eef2	T	A	10: 81,016,948 (GRCm39)	I675N	probably damaging	Het
Gga3	A	G	11: 115,477,995 (GRCm39)	F531S	possibly damaging	Het
Gm19410	A	G	8: 36,257,652 (GRCm39)	R697G	possibly damaging	Het
Gm3173	T	A	14: 15,728,395 (GRCm39)	M18K	possibly damaging	Het
Gm5800	A	T	14: 51,949,419 (GRCm39)	S175R	possibly damaging	Het
Gria2	T	C	3: 80,648,451 (GRCm39)	K95R	probably damaging	Het
Gstm6	A	G	3: 107,849,681 (GRCm39)	I76T	probably damaging	Het
Harbi1	T	G	2: 91,542,640 (GRCm39)	Y34D	probably damaging	Het
Hectd2	C	A	19: 36,564,778 (GRCm39)	Q20K	probably benign	Het
Inpp5f	C	A	7: 128,296,280 (GRCm39)	A250D	possibly damaging	Het
Irf9	T	C	14: 55,842,684 (GRCm39)	F59L	probably damaging	Het
Itgam	T	A	7: 127,707,044 (GRCm39)	M625K	probably damaging	Het
Kcnh5	C	T	12: 75,054,432 (GRCm39)	R504Q	probably damaging	Het
Lama2	T	C	10: 27,052,793 (GRCm39)	T1389A	probably benign	Het
Lin54	T	A	5: 100,632,996 (GRCm39)		probably null	Het
Mettl23	A	G	11: 116,740,042 (GRCm39)	D171G	possibly damaging	Het
Mgll	A	G	6: 88,802,685 (GRCm39)	N296S	probably benign	Het
Mpv17	T	A	5: 31,302,041 (GRCm39)		probably benign	Het
Myof	A	T	19: 37,930,745 (GRCm39)	M1001K	possibly damaging	Het
Myom1	A	T	17: 71,389,300 (GRCm39)	Q850L	probably benign	Het
Or10ab5	A	T	7: 108,245,662 (GRCm39)	N40K	probably damaging	Het
Pias2	A	G	18: 77,217,781 (GRCm39)	I328V	possibly damaging	Het
Polh	G	A	17: 46,493,685 (GRCm39)	P311S	possibly damaging	Het
Prss34	A	T	17: 25,517,809 (GRCm39)	R61S	probably benign	Het
Rassf2	A	T	2: 131,840,237 (GRCm39)	M280K	probably damaging	Het
Rpsa	A	G	9: 119,959,323 (GRCm39)	H47R	probably benign	Het
Rtp3	A	G	9: 110,815,894 (GRCm39)	V219A	possibly damaging	Het
Smarcc2	T	C	10: 128,319,997 (GRCm39)	I790T	probably benign	Het
Stag3	A	G	5: 138,296,614 (GRCm39)	T491A	possibly damaging	Het
Svil	C	T	18: 5,108,621 (GRCm39)	H2007Y	probably benign	Het
Togaram1	T	G	12: 65,024,981 (GRCm39)	C750G	possibly damaging	Het
Vmn2r13	A	T	5: 109,304,806 (GRCm39)		probably null	Het
Wdr97	C	T	15: 76,247,578 (GRCm39)	R1585C	probably damaging	Het
Wsb1	A	T	11: 79,141,881 (GRCm39)	D45E	probably damaging	Het
Zfp808	T	A	13: 62,319,709 (GRCm39)	Y313N	probably benign	Het

Other mutations in Vmn2r4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01310:Vmn2r4	APN	3	64,317,200 (GRCm39)	splice site	probably null
IGL01448:Vmn2r4	APN	3	64,313,816 (GRCm39)	missense	probably damaging	0.99
IGL01452:Vmn2r4	APN	3	64,313,816 (GRCm39)	missense	probably damaging	0.99
IGL01454:Vmn2r4	APN	3	64,313,816 (GRCm39)	missense	probably damaging	0.99
IGL01456:Vmn2r4	APN	3	64,313,816 (GRCm39)	missense	probably damaging	0.99
IGL01463:Vmn2r4	APN	3	64,313,816 (GRCm39)	missense	probably damaging	0.99
IGL01467:Vmn2r4	APN	3	64,313,816 (GRCm39)	missense	probably damaging	0.99
IGL01468:Vmn2r4	APN	3	64,313,816 (GRCm39)	missense	probably damaging	0.99
IGL01470:Vmn2r4	APN	3	64,313,816 (GRCm39)	missense	probably damaging	0.99
IGL01476:Vmn2r4	APN	3	64,313,816 (GRCm39)	missense	probably damaging	0.99
IGL01481:Vmn2r4	APN	3	64,313,816 (GRCm39)	missense	probably damaging	0.99
IGL01534:Vmn2r4	APN	3	64,313,844 (GRCm39)	missense	probably damaging	1.00
IGL01636:Vmn2r4	APN	3	64,313,657 (GRCm39)	missense	probably benign	0.21
IGL01879:Vmn2r4	APN	3	64,298,431 (GRCm39)	missense	probably damaging	1.00
IGL02147:Vmn2r4	APN	3	64,305,782 (GRCm39)	splice site	probably benign
IGL02276:Vmn2r4	APN	3	64,313,877 (GRCm39)	missense	possibly damaging	0.95
IGL02432:Vmn2r4	APN	3	64,313,821 (GRCm39)	missense	probably benign	0.38
IGL02533:Vmn2r4	APN	3	64,305,840 (GRCm39)	nonsense	probably null
IGL02655:Vmn2r4	APN	3	64,305,886 (GRCm39)	missense	probably damaging	0.97
IGL02666:Vmn2r4	APN	3	64,296,433 (GRCm39)	missense	probably benign	0.10
IGL02902:Vmn2r4	APN	3	64,314,337 (GRCm39)	missense	probably benign	0.22
IGL03189:Vmn2r4	APN	3	64,296,589 (GRCm39)	missense	possibly damaging	0.89
IGL03250:Vmn2r4	APN	3	64,314,063 (GRCm39)	missense	probably damaging	1.00
IGL03271:Vmn2r4	APN	3	64,305,850 (GRCm39)	missense	probably benign	0.01
R0310:Vmn2r4	UTSW	3	64,296,855 (GRCm39)	nonsense	probably null
R0504:Vmn2r4	UTSW	3	64,296,784 (GRCm39)	missense	probably damaging	1.00
R1546:Vmn2r4	UTSW	3	64,314,309 (GRCm39)	missense	probably damaging	1.00
R1562:Vmn2r4	UTSW	3	64,296,865 (GRCm39)	missense	probably damaging	0.98
R1863:Vmn2r4	UTSW	3	64,314,410 (GRCm39)	missense	probably benign	0.33
R1873:Vmn2r4	UTSW	3	64,298,479 (GRCm39)	missense	possibly damaging	0.93
R1939:Vmn2r4	UTSW	3	64,305,976 (GRCm39)	missense	probably benign	0.00
R2103:Vmn2r4	UTSW	3	64,322,704 (GRCm39)	missense	possibly damaging	0.48
R3083:Vmn2r4	UTSW	3	64,296,788 (GRCm39)	missense	probably damaging	1.00
R3687:Vmn2r4	UTSW	3	64,296,896 (GRCm39)	missense	possibly damaging	0.93
R3707:Vmn2r4	UTSW	3	64,296,895 (GRCm39)	missense	probably damaging	0.99
R3963:Vmn2r4	UTSW	3	64,322,572 (GRCm39)	missense	probably damaging	0.99
R4428:Vmn2r4	UTSW	3	64,322,590 (GRCm39)	missense	probably damaging	1.00
R4710:Vmn2r4	UTSW	3	64,317,201 (GRCm39)	critical splice donor site	probably null
R4737:Vmn2r4	UTSW	3	64,317,384 (GRCm39)	missense	probably damaging	1.00
R4767:Vmn2r4	UTSW	3	64,298,397 (GRCm39)	missense	probably damaging	0.99
R4776:Vmn2r4	UTSW	3	64,296,082 (GRCm39)	missense	probably damaging	0.96
R4834:Vmn2r4	UTSW	3	64,317,484 (GRCm39)	missense	probably benign	0.40
R4893:Vmn2r4	UTSW	3	64,313,676 (GRCm39)	missense	probably damaging	0.96
R4908:Vmn2r4	UTSW	3	64,296,476 (GRCm39)	missense	possibly damaging	0.59
R5049:Vmn2r4	UTSW	3	64,306,019 (GRCm39)	splice site	probably null
R5092:Vmn2r4	UTSW	3	64,298,373 (GRCm39)	missense	probably benign	0.01
R5234:Vmn2r4	UTSW	3	64,305,878 (GRCm39)	missense	possibly damaging	0.88
R5240:Vmn2r4	UTSW	3	64,314,358 (GRCm39)	missense	possibly damaging	0.53
R5704:Vmn2r4	UTSW	3	64,317,370 (GRCm39)	missense	probably benign	0.03
R5897:Vmn2r4	UTSW	3	64,322,687 (GRCm39)	nonsense	probably null
R5907:Vmn2r4	UTSW	3	64,298,487 (GRCm39)	missense	probably damaging	0.99
R5924:Vmn2r4	UTSW	3	64,296,685 (GRCm39)	missense	probably damaging	1.00
R6145:Vmn2r4	UTSW	3	64,314,364 (GRCm39)	missense	probably benign	0.00
R6191:Vmn2r4	UTSW	3	64,322,702 (GRCm39)	missense	probably benign	0.34
R6192:Vmn2r4	UTSW	3	64,322,699 (GRCm39)	missense	probably benign	0.00
R6207:Vmn2r4	UTSW	3	64,313,926 (GRCm39)	missense	probably damaging	1.00
R6457:Vmn2r4	UTSW	3	64,317,378 (GRCm39)	missense	probably damaging	1.00
R6533:Vmn2r4	UTSW	3	64,322,519 (GRCm39)	missense	probably benign
R6594:Vmn2r4	UTSW	3	64,296,731 (GRCm39)	missense	probably damaging	1.00
R7049:Vmn2r4	UTSW	3	64,296,550 (GRCm39)	missense	probably benign	0.14
R7150:Vmn2r4	UTSW	3	64,305,898 (GRCm39)	missense	probably benign	0.01
R7187:Vmn2r4	UTSW	3	64,322,681 (GRCm39)	missense	probably benign	0.00
R7363:Vmn2r4	UTSW	3	64,314,432 (GRCm39)	missense	probably damaging	1.00
R7477:Vmn2r4	UTSW	3	64,305,850 (GRCm39)	missense	probably benign	0.01
R7675:Vmn2r4	UTSW	3	64,322,657 (GRCm39)	missense	probably benign	0.01
R7858:Vmn2r4	UTSW	3	64,317,226 (GRCm39)	missense	probably benign	0.00
R7888:Vmn2r4	UTSW	3	64,313,943 (GRCm39)	missense	probably damaging	0.99
R8678:Vmn2r4	UTSW	3	64,314,391 (GRCm39)	missense	probably benign
R8743:Vmn2r4	UTSW	3	64,317,247 (GRCm39)	missense	possibly damaging	0.95
R8841:Vmn2r4	UTSW	3	64,314,058 (GRCm39)	missense	probably damaging	0.97
R9671:Vmn2r4	UTSW	3	64,317,271 (GRCm39)	missense	probably benign	0.00
R9778:Vmn2r4	UTSW	3	64,322,497 (GRCm39)	missense	probably benign	0.15
X0019:Vmn2r4	UTSW	3	64,314,057 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTCAGAGGTATGAACATGGGTG -3'
(R):5'- ATACCGAGAAGTGTTATACCAGG -3'

Sequencing Primer
(F):5'- TGAACATGGGTGTAAACACTTG -3'
(R):5'- ACCAGGACTAAAAGAATTCCTTTATG -3'

Posted On

2018-06-06