Mutagenetix > Incidental Mutation

Incidental Mutation 'R5234:Vmn2r4'

398194

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r4

Ensembl Gene

ENSMUSG00000092049

Gene Name

vomeronasal 2, receptor 4

Synonyms

EG637053

MMRRC Submission

042806-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R5234 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

64295982-64322741 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 64305878 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 515 (V515I)

Ref Sequence

ENSEMBL: ENSMUSP00000135228 (fasta)

Gene Model

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

AlphaFold

K7N784

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170280
AA Change: V426I

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127513
Gene: ENSMUSG00000092049
AA Change: V426I

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: V515I

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135228
Gene: ENSMUSG00000092049
AA Change: V515I

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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	A	1: 71,302,823 (GRCm39)	T2132M	probably damaging	Het
Abca8b	A	T	11: 109,867,420 (GRCm39)	F213I	possibly damaging	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Adamts6	A	G	13: 104,630,130 (GRCm39)	Y1091C	probably damaging	Het
Adamtsl4	T	C	3: 95,588,230 (GRCm39)	M586V	probably benign	Het
Anapc4	T	C	5: 53,006,118 (GRCm39)	S336P	probably damaging	Het
Atp1a4	A	T	1: 172,054,737 (GRCm39)	I964K	possibly damaging	Het
Bcan	A	T	3: 87,903,453 (GRCm39)	D246E	probably damaging	Het
Ccnf	G	A	17: 24,453,411 (GRCm39)	R343*	probably null	Het
Col6a5	T	C	9: 105,741,404 (GRCm39)	H2505R	probably damaging	Het
Dlg5	T	A	14: 24,242,930 (GRCm39)	M72L	probably damaging	Het
Dnajc18	T	C	18: 35,816,351 (GRCm39)	T196A	probably benign	Het
Dnajc19	T	A	3: 34,112,108 (GRCm39)	I146F	probably benign	Het
Espnl	A	G	1: 91,272,515 (GRCm39)	D581G	probably benign	Het
Fam167a	T	C	14: 63,689,787 (GRCm39)	L28P	probably damaging	Het
Fra10ac1	T	C	19: 38,204,294 (GRCm39)	D94G	probably damaging	Het
Fut8	A	G	12: 77,379,004 (GRCm39)	H35R	probably benign	Het
Gad1-ps	T	A	10: 99,281,188 (GRCm39)		noncoding transcript	Het
Garin2	T	A	12: 78,762,045 (GRCm39)	Y236*	probably null	Het
Idh2	A	T	7: 79,745,853 (GRCm39)	V333E	probably damaging	Het
Inpp5f	A	G	7: 128,265,407 (GRCm39)	I121V	probably benign	Het
Itga1	A	T	13: 115,185,839 (GRCm39)	Y54*	probably null	Het
Lax1	A	G	1: 133,608,321 (GRCm39)	V140A	probably benign	Het
Ncoa6	A	G	2: 155,279,933 (GRCm39)	F28L	probably benign	Het
Or12e10	T	C	2: 87,641,112 (GRCm39)	V316A	probably benign	Het
Or1q1	T	C	2: 36,887,107 (GRCm39)	V95A	probably benign	Het
Polr2a	T	C	11: 69,627,666 (GRCm39)	I1414V	probably benign	Het
Ppp1r14b	A	G	19: 6,954,227 (GRCm39)	E115G	possibly damaging	Het
Prune2	A	G	19: 17,096,032 (GRCm39)	D512G	probably damaging	Het
Psmd11	A	G	11: 80,319,566 (GRCm39)	I19V	probably benign	Het
Pthlh	C	A	6: 147,158,592 (GRCm39)	G123W	probably damaging	Het
Qars1	T	A	9: 108,391,364 (GRCm39)	L572Q	probably damaging	Het
Rubcn	T	C	16: 32,656,828 (GRCm39)	I516V	probably damaging	Het
Sgsm3	A	T	15: 80,892,145 (GRCm39)	S238C	probably damaging	Het
Slc25a22	C	A	7: 141,014,116 (GRCm39)		probably benign	Het
Slc4a1	G	A	11: 102,252,209 (GRCm39)	R5W	probably benign	Het
Tie1	G	A	4: 118,339,959 (GRCm39)	T356I	probably benign	Het
Tnn	A	T	1: 159,972,569 (GRCm39)	H344Q	possibly damaging	Het
Tnrc6c	G	T	11: 117,651,555 (GRCm39)	V1693F	probably benign	Het
Topaz1	C	T	9: 122,619,258 (GRCm39)	T1285M	possibly damaging	Het
Trank1	A	T	9: 111,215,535 (GRCm39)	S1822C	probably damaging	Het
Ttll11	A	C	2: 35,830,745 (GRCm39)	Y209D	probably damaging	Het
Unc45a	C	G	7: 79,978,547 (GRCm39)	A634P	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
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
R6545:Vmn2r4	UTSW	3	64,313,777 (GRCm39)	missense	possibly damaging	0.50
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'- ACGTGATTTGGAATATGATGAAAGC -3'
(R):5'- CATACAACTGTAGTATACGTCAGTG -3'

Sequencing Primer
(F):5'- ATGATGAAAGCTTTATGTGTTTTGC -3'
(R):5'- CACCTGTGGCTAGAGGATATC -3'

Posted On

2016-07-06