Mutagenetix > Incidental Mutation

Incidental Mutation 'R3687:Vmn2r4'

269556

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r4

Ensembl Gene

ENSMUSG00000092049

Gene Name

vomeronasal 2, receptor 4

Synonyms

EG637053

MMRRC Submission

040683-MU

Accession Numbers

Essential gene?

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

Stock #

R3687 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64295982-64322741 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 64296896 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 630 (I630F)

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: I541F

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127513
Gene: ENSMUSG00000092049
AA Change: I541F

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: I630F

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135228
Gene: ENSMUSG00000092049
AA Change: I630F

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

97% (38/39)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra1	G	A	7: 139,432,506 (GRCm39)	V115M	probably damaging	Het
Atp11c	T	C	X: 59,327,004 (GRCm39)	Y431C	probably benign	Het
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
B230307C23Rik	T	A	16: 97,810,199 (GRCm39)	N62K	probably benign	Het
Bnip2	T	A	9: 69,906,432 (GRCm39)	Y118N	probably damaging	Het
Bptf	C	A	11: 106,965,024 (GRCm39)	R1275L	probably benign	Het
C2cd3	C	T	7: 100,085,040 (GRCm39)	P1544L	probably benign	Het
Cd44	G	A	2: 102,731,695 (GRCm39)		probably null	Het
Col10a1	A	G	10: 34,271,494 (GRCm39)	T489A	probably benign	Het
Dgkk	T	C	X: 6,804,631 (GRCm39)		probably benign	Het
Efcab6	G	A	15: 83,755,479 (GRCm39)	Q1323*	probably null	Het
Eftud2	T	C	11: 102,735,027 (GRCm39)	E624G	probably damaging	Het
Elmo3	G	A	8: 106,035,468 (GRCm39)		probably null	Het
Galnt13	A	T	2: 54,770,074 (GRCm39)	T289S	probably benign	Het
Gm16485	T	C	9: 8,972,382 (GRCm39)		probably benign	Het
Gm43302	A	T	5: 105,428,132 (GRCm39)	V143D	probably damaging	Het
Gpr18	T	C	14: 122,149,873 (GRCm39)	T51A	probably damaging	Het
Hr	T	A	14: 70,795,236 (GRCm39)	N289K	probably damaging	Het
Ighv1-24	T	A	12: 114,736,700 (GRCm39)	I67F	probably damaging	Het
Ksr2	A	G	5: 117,693,044 (GRCm39)	Q164R	probably damaging	Het
Myo3b	A	G	2: 70,075,658 (GRCm39)	E554G	probably benign	Het
Or10u4	A	T	10: 129,802,581 (GRCm39)		probably null	Het
Or5b99	G	A	19: 12,976,466 (GRCm39)	G39R	probably damaging	Het
Or8b101	A	G	9: 38,020,177 (GRCm39)	Y60C	probably damaging	Het
Pclo	A	G	5: 14,719,009 (GRCm39)	T1049A	unknown	Het
Pkhd1l1	T	C	15: 44,409,983 (GRCm39)	S2497P	probably benign	Het
Ppm1f	T	C	16: 16,741,747 (GRCm39)	V407A	probably damaging	Het
Ppox	A	G	1: 171,105,066 (GRCm39)	L374S	probably damaging	Het
Prkdc	T	C	16: 15,617,831 (GRCm39)	Y3221H	probably benign	Het
Ptprk	A	T	10: 28,349,039 (GRCm39)	I520F	probably damaging	Het
Pus10	T	C	11: 23,617,334 (GRCm39)	F16L	probably benign	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Rab3d	A	T	9: 21,826,204 (GRCm39)	M101K	probably damaging	Het
Rangap1	A	T	15: 81,602,963 (GRCm39)	M154K	possibly damaging	Het
Slc25a17	A	G	15: 81,211,485 (GRCm39)	F177S	probably benign	Het
Tas2r114	T	C	6: 131,666,231 (GRCm39)	T266A	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Trem3	T	A	17: 48,564,955 (GRCm39)	V152D	probably damaging	Het
Vwa5b2	C	A	16: 20,410,308 (GRCm39)		probably benign	Het
Zfp518b	A	T	5: 38,831,455 (GRCm39)	H183Q	probably damaging	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
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
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'- AAAAGCCCAGTGCCAGAGTG -3'
(R):5'- CCTGTTGAGATCTTTAACTGAACC -3'

Sequencing Primer
(F):5'- AGTGCCAGAGTGACCTGAC -3'
(R):5'- GAGATCTTTAACTGAACCAGACTG -3'

Posted On

2015-02-19