Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01456:Vmn2r4'

84769

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vmn2r4

Ensembl Gene

ENSMUSG00000092049

Gene Name

vomeronasal 2, receptor 4

Synonyms

EG637053

Accession Numbers

Essential gene?

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

Stock #

IGL01456

Quality Score

Status

Chromosome

Chromosomal Location

64295982-64322741 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 64313816 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 388 (N388K)

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: N299K

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127513
Gene: ENSMUSG00000092049
AA Change: N299K

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: N388K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135228
Gene: ENSMUSG00000092049
AA Change: N388K

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	T	A	12: 113,455,083 (GRCm39)	D633E	probably benign	Het
Akap13	T	C	7: 75,252,595 (GRCm39)	C242R	probably damaging	Het
Ap5z1	T	C	5: 142,453,791 (GRCm39)	L175P	probably damaging	Het
Arid1b	A	G	17: 5,341,510 (GRCm39)	E938G	probably damaging	Het
Arid4a	A	G	12: 71,114,036 (GRCm39)	N208D	probably benign	Het
Atr	A	G	9: 95,832,618 (GRCm39)	H2556R	possibly damaging	Het
Cald1	A	T	6: 34,741,931 (GRCm39)	D438V	probably damaging	Het
Dcbld2	C	T	16: 58,229,236 (GRCm39)	P40S	possibly damaging	Het
Dock8	G	A	19: 25,096,863 (GRCm39)	M590I	possibly damaging	Het
Gm1818	A	T	12: 48,602,583 (GRCm39)		noncoding transcript	Het
Hace1	A	G	10: 45,586,094 (GRCm39)		probably benign	Het
Igkv10-96	A	G	6: 68,609,086 (GRCm39)	Y70H	probably benign	Het
Kdm2a	G	T	19: 4,401,783 (GRCm39)	H200Q	probably damaging	Het
Ldha	A	G	7: 46,499,602 (GRCm39)	D111G	possibly damaging	Het
Map7	A	G	10: 20,149,550 (GRCm39)	E567G	unknown	Het
Nbeal1	G	T	1: 60,269,787 (GRCm39)	L375F	probably damaging	Het
Nectin3	T	C	16: 46,279,216 (GRCm39)	E254G	probably benign	Het
Nlrp4b	A	T	7: 10,448,150 (GRCm39)	I118F	probably benign	Het
Pkhd1	A	T	1: 20,269,683 (GRCm39)	V3287D	probably damaging	Het
Ptpre	T	G	7: 135,271,531 (GRCm39)	V375G	probably damaging	Het
Rabgap1	A	G	2: 37,431,187 (GRCm39)	E746G	probably damaging	Het
Sh2b2	C	T	5: 136,253,321 (GRCm39)	C311Y	probably damaging	Het
Skor1	G	A	9: 63,052,772 (GRCm39)	T399I	probably damaging	Het
Sptbn2	A	G	19: 4,796,777 (GRCm39)	T1792A	probably damaging	Het
Tiparp	G	T	3: 65,460,030 (GRCm39)	G442*	probably null	Het
Tln1	G	A	4: 43,543,432 (GRCm39)		probably benign	Het
Tmc7	C	A	7: 118,146,533 (GRCm39)		probably benign	Het
Top2a	A	T	11: 98,901,856 (GRCm39)	L458Q	probably damaging	Het
Tpte	A	G	8: 22,835,068 (GRCm39)		probably benign	Het
Unc13a	G	A	8: 72,097,211 (GRCm39)	R1228W	probably damaging	Het
Vipr1	C	T	9: 121,494,244 (GRCm39)	T275M	probably damaging	Het
Vmn1r177	G	T	7: 23,565,753 (GRCm39)	P41Q	possibly 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
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
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

Posted On

2013-11-11