Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03120:Vmn2r54'

409949

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vmn2r54

Ensembl Gene

ENSMUSG00000096593

Gene Name

vomeronasal 2, receptor 54

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

IGL03120

Quality Score

Status

Chromosome

Chromosomal Location

12349160-12374167 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12349314 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 756 (I756T)

Ref Sequence

ENSEMBL: ENSMUSP00000083386 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086210]

AlphaFold

A0A3B2W422

Predicted Effect

probably damaging
Transcript: ENSMUST00000086210
AA Change: I756T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000083386
Gene: ENSMUSG00000096593
AA Change: I756T

Domain	Start	End	E-Value	Type
Pfam:ANF_receptor	5	397	4.3e-58	PFAM
Pfam:NCD3G	442	495	2.2e-19	PFAM
Pfam:7tm_3	526	763	1.2e-54	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
1110059G10Rik	A	G	9: 122,778,118 (GRCm39)	L42P	probably benign	Het
Cacna1e	T	C	1: 154,319,627 (GRCm39)	I1420V	probably damaging	Het
Cemip2	G	A	19: 21,801,207 (GRCm39)	D775N	possibly damaging	Het
Corin	T	C	5: 72,518,032 (GRCm39)	Y263C	probably damaging	Het
Cyp4f15	A	T	17: 32,909,738 (GRCm39)	I112F	probably damaging	Het
Dach1	T	C	14: 98,065,225 (GRCm39)	E724G	probably damaging	Het
Dip2b	T	C	15: 100,101,008 (GRCm39)		probably benign	Het
Dnah2	T	A	11: 69,312,674 (GRCm39)	E4297V	probably damaging	Het
Dot1l	A	G	10: 80,622,107 (GRCm39)		probably benign	Het
Endod1	C	A	9: 14,268,331 (GRCm39)	V385F	probably damaging	Het
Etnppl	A	G	3: 130,414,341 (GRCm39)	T73A	probably damaging	Het
Frmd4b	T	A	6: 97,373,206 (GRCm39)	D104V	possibly damaging	Het
Gp5	T	C	16: 30,127,016 (GRCm39)	I553V	possibly damaging	Het
Gpc5	A	G	14: 115,607,556 (GRCm39)	E386G	possibly damaging	Het
Hbb-bs	A	G	7: 103,476,985 (GRCm39)		probably benign	Het
Klra2	T	A	6: 131,197,180 (GRCm39)	Y273F	probably benign	Het
Lrrc37	T	C	11: 103,507,801 (GRCm39)		probably benign	Het
Msto1	A	T	3: 88,818,116 (GRCm39)	V366E	probably damaging	Het
Mtcl1	A	G	17: 66,686,378 (GRCm39)	S843P	probably damaging	Het
Nhsl2	A	G	X: 101,114,939 (GRCm39)	N97S	probably benign	Het
Npm2	C	A	14: 70,890,039 (GRCm39)		probably benign	Het
Npr2	C	T	4: 43,643,133 (GRCm39)	R506C	probably damaging	Het
Olr1	T	C	6: 129,465,898 (GRCm39)	E36G	probably damaging	Het
Or56b2	A	T	7: 104,337,609 (GRCm39)	Y129F	probably benign	Het
Pcdhb19	A	G	18: 37,631,209 (GRCm39)	I335V	probably benign	Het
Pla2g6	T	C	15: 79,171,060 (GRCm39)	D772G	probably damaging	Het
Ppfibp1	C	A	6: 146,899,667 (GRCm39)	D119E	probably benign	Het
Prdm9	T	C	17: 15,765,193 (GRCm39)	N529S	probably benign	Het
Rnf20	T	A	4: 49,649,955 (GRCm39)		probably benign	Het
Spata31h1	A	G	10: 82,120,869 (GRCm39)	V77A	possibly damaging	Het
Tmem132c	T	A	5: 127,640,448 (GRCm39)	V873E	probably benign	Het
Ttn	T	C	2: 76,757,428 (GRCm39)		probably null	Het

Other mutations in Vmn2r54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Vmn2r54	APN	7	12,365,840 (GRCm39)	splice site	probably benign
IGL01778:Vmn2r54	APN	7	12,366,009 (GRCm39)	missense	probably benign	0.07
IGL01998:Vmn2r54	APN	7	12,349,227 (GRCm39)	missense	probably benign
IGL02028:Vmn2r54	APN	7	12,366,088 (GRCm39)	missense	probably damaging	1.00
IGL02064:Vmn2r54	APN	7	12,349,533 (GRCm39)	missense	probably benign	0.02
IGL02238:Vmn2r54	APN	7	12,369,910 (GRCm39)	missense	probably damaging	1.00
IGL03062:Vmn2r54	APN	7	12,366,355 (GRCm39)	missense	probably damaging	0.98
PIT4453001:Vmn2r54	UTSW	7	12,363,669 (GRCm39)	missense	probably benign	0.06
R0212:Vmn2r54	UTSW	7	12,366,424 (GRCm39)	missense	probably benign
R0360:Vmn2r54	UTSW	7	12,349,576 (GRCm39)	missense	probably damaging	1.00
R1646:Vmn2r54	UTSW	7	12,366,434 (GRCm39)	missense	probably damaging	1.00
R1673:Vmn2r54	UTSW	7	12,350,138 (GRCm39)	critical splice acceptor site	probably null
R1738:Vmn2r54	UTSW	7	12,369,815 (GRCm39)	missense	probably benign	0.00
R1856:Vmn2r54	UTSW	7	12,366,238 (GRCm39)	missense	probably benign
R2012:Vmn2r54	UTSW	7	12,349,804 (GRCm39)	missense	probably damaging	1.00
R2038:Vmn2r54	UTSW	7	12,363,637 (GRCm39)	missense	possibly damaging	0.94
R2160:Vmn2r54	UTSW	7	12,349,420 (GRCm39)	missense	probably benign	0.29
R2397:Vmn2r54	UTSW	7	12,349,578 (GRCm39)	missense	probably damaging	0.98
R2430:Vmn2r54	UTSW	7	12,365,933 (GRCm39)	missense	probably damaging	0.99
R2829:Vmn2r54	UTSW	7	12,349,617 (GRCm39)	missense	possibly damaging	0.62
R2975:Vmn2r54	UTSW	7	12,369,919 (GRCm39)	missense	possibly damaging	0.92
R3005:Vmn2r54	UTSW	7	12,349,221 (GRCm39)	missense	probably benign	0.28
R3725:Vmn2r54	UTSW	7	12,366,223 (GRCm39)	missense	probably benign	0.42
R4486:Vmn2r54	UTSW	7	12,366,199 (GRCm39)	nonsense	probably null
R4881:Vmn2r54	UTSW	7	12,363,598 (GRCm39)	missense	probably benign	0.00
R4907:Vmn2r54	UTSW	7	12,350,150 (GRCm39)	splice site	probably null
R5536:Vmn2r54	UTSW	7	12,366,343 (GRCm39)	missense	probably benign	0.03
R5637:Vmn2r54	UTSW	7	12,349,296 (GRCm39)	missense	probably benign	0.41
R5703:Vmn2r54	UTSW	7	12,363,594 (GRCm39)	missense	probably benign	0.22
R5769:Vmn2r54	UTSW	7	12,349,209 (GRCm39)	missense	possibly damaging	0.73
R5972:Vmn2r54	UTSW	7	12,369,874 (GRCm39)	missense	probably damaging	1.00
R5972:Vmn2r54	UTSW	7	12,349,279 (GRCm39)	missense	probably damaging	1.00
R5977:Vmn2r54	UTSW	7	12,366,143 (GRCm39)	missense	probably damaging	1.00
R6084:Vmn2r54	UTSW	7	12,366,205 (GRCm39)	missense	probably damaging	0.98
R6176:Vmn2r54	UTSW	7	12,349,908 (GRCm39)	missense	probably damaging	1.00
R6229:Vmn2r54	UTSW	7	12,365,883 (GRCm39)	missense	probably benign	0.00
R6371:Vmn2r54	UTSW	7	12,349,362 (GRCm39)	missense	probably damaging	1.00
R6374:Vmn2r54	UTSW	7	12,349,420 (GRCm39)	missense	probably damaging	1.00
R6804:Vmn2r54	UTSW	7	12,363,792 (GRCm39)	missense	probably benign
R6886:Vmn2r54	UTSW	7	12,366,080 (GRCm39)	missense	probably benign	0.02
R7041:Vmn2r54	UTSW	7	12,363,751 (GRCm39)	missense	probably damaging	0.99
R7058:Vmn2r54	UTSW	7	12,349,722 (GRCm39)	missense	possibly damaging	0.70
R7113:Vmn2r54	UTSW	7	12,350,001 (GRCm39)	missense	probably damaging	1.00
R7124:Vmn2r54	UTSW	7	12,356,078 (GRCm39)	missense	probably benign	0.00
R7126:Vmn2r54	UTSW	7	12,366,088 (GRCm39)	missense	possibly damaging	0.91
R7236:Vmn2r54	UTSW	7	12,365,917 (GRCm39)	missense	possibly damaging	0.84
R7337:Vmn2r54	UTSW	7	12,356,044 (GRCm39)	missense	probably benign	0.00
R7406:Vmn2r54	UTSW	7	12,350,150 (GRCm39)	splice site	probably null
R7634:Vmn2r54	UTSW	7	12,349,630 (GRCm39)	missense	probably damaging	1.00
R7793:Vmn2r54	UTSW	7	12,366,196 (GRCm39)	missense	probably damaging	0.98
R8139:Vmn2r54	UTSW	7	12,349,743 (GRCm39)	missense	possibly damaging	0.92
R8158:Vmn2r54	UTSW	7	12,349,888 (GRCm39)	missense	probably damaging	1.00
R8179:Vmn2r54	UTSW	7	12,366,018 (GRCm39)	nonsense	probably null
R8440:Vmn2r54	UTSW	7	12,350,013 (GRCm39)	missense	possibly damaging	0.72
R8712:Vmn2r54	UTSW	7	12,369,877 (GRCm39)	missense	probably benign	0.22
R8853:Vmn2r54	UTSW	7	12,349,782 (GRCm39)	missense	probably damaging	1.00
R8859:Vmn2r54	UTSW	7	12,363,702 (GRCm39)	missense	possibly damaging	0.70
R9146:Vmn2r54	UTSW	7	12,366,647 (GRCm39)	missense	probably benign	0.05
R9157:Vmn2r54	UTSW	7	12,366,055 (GRCm39)	missense	possibly damaging	0.93
R9344:Vmn2r54	UTSW	7	12,366,283 (GRCm39)	missense	probably benign
R9423:Vmn2r54	UTSW	7	12,349,441 (GRCm39)	missense	probably damaging	1.00
R9534:Vmn2r54	UTSW	7	12,366,093 (GRCm39)	missense	probably benign	0.03
R9632:Vmn2r54	UTSW	7	12,363,753 (GRCm39)	missense	possibly damaging	0.74
R9661:Vmn2r54	UTSW	7	12,349,166 (GRCm39)	missense	probably benign
R9710:Vmn2r54	UTSW	7	12,363,753 (GRCm39)	missense	possibly damaging	0.74
U24488:Vmn2r54	UTSW	7	12,349,356 (GRCm39)	missense	possibly damaging	0.84
X0066:Vmn2r54	UTSW	7	12,349,297 (GRCm39)	missense	probably damaging	1.00
Z1177:Vmn2r54	UTSW	7	12,366,035 (GRCm39)	nonsense	probably null

Posted On

2016-08-02