Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01112:Vmn2r57'

51568

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vmn2r57

Ensembl Gene

ENSMUSG00000066537

Gene Name

vomeronasal 2, receptor 57

Synonyms

EG269902

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

IGL01112

Quality Score

Status

Chromosome

Chromosomal Location

41049156-41098065 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41074467 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 532 (E532G)

Ref Sequence

ENSEMBL: ENSMUSP00000125817 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094532] [ENSMUST00000165029]

AlphaFold

L7N269

Predicted Effect

probably benign
Transcript: ENSMUST00000094532

Predicted Effect

probably damaging
Transcript: ENSMUST00000165029
AA Change: E532G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000125817
Gene: ENSMUSG00000066537
AA Change: E532G

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ANF_receptor	77	471	1.4e-44	PFAM
Pfam:NCD3G	514	567	2.7e-23	PFAM
Pfam:7tm_3	600	835	1.8e-52	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano1	T	C	7: 144,190,882 (GRCm39)	I401V	possibly damaging	Het
Ap2a2	A	T	7: 141,184,932 (GRCm39)		probably benign	Het
Apol7c	T	A	15: 77,410,637 (GRCm39)	D103V	probably damaging	Het
Arid4a	T	C	12: 71,119,507 (GRCm39)		probably null	Het
Atp2a1	A	G	7: 126,049,479 (GRCm39)	V521A	probably benign	Het
Ccdc88c	G	T	12: 100,883,062 (GRCm39)	D1603E	probably benign	Het
Clec4f	T	C	6: 83,630,182 (GRCm39)	I125M	probably benign	Het
Dsc1	T	C	18: 20,227,679 (GRCm39)	I520V	probably benign	Het
Eomes	G	A	9: 118,311,334 (GRCm39)	A386T	probably damaging	Het
Gldc	C	T	19: 30,135,913 (GRCm39)		probably null	Het
Hectd4	G	T	5: 121,445,013 (GRCm39)	M1420I	probably benign	Het
Hmcn1	A	T	1: 150,508,303 (GRCm39)		probably benign	Het
Ighv6-3	G	A	12: 114,355,335 (GRCm39)	T118I	possibly damaging	Het
Krt82	A	G	15: 101,453,958 (GRCm39)	F250S	probably damaging	Het
Ltb	A	G	17: 35,413,576 (GRCm39)	T27A	probably benign	Het
Mex3b	T	A	7: 82,518,911 (GRCm39)	S409T	probably benign	Het
Mki67	A	T	7: 135,315,745 (GRCm39)	I39N	probably damaging	Het
Or51a7	A	G	7: 102,615,235 (GRCm39)		probably benign	Het
Palmd	A	G	3: 116,717,922 (GRCm39)	S192P	probably damaging	Het
Pcdh20	A	T	14: 88,704,636 (GRCm39)	M888K	probably benign	Het
Pclo	A	T	5: 14,731,083 (GRCm39)	H3195L	unknown	Het
Pgm2	A	T	5: 64,260,225 (GRCm39)	I137F	possibly damaging	Het
Polq	T	A	16: 36,837,671 (GRCm39)	N194K	probably damaging	Het
Rmnd1	T	C	10: 4,360,793 (GRCm39)		probably null	Het
Rnf114	T	C	2: 167,354,459 (GRCm39)	M180T	probably damaging	Het
Sap30	A	G	8: 57,938,123 (GRCm39)	F165L	possibly damaging	Het
Scgb3a2	T	A	18: 43,900,059 (GRCm39)		probably benign	Het
Sftpa1	A	T	14: 40,854,527 (GRCm39)	N38I	probably benign	Het
Sumf1	A	G	6: 108,152,977 (GRCm39)	F137S	probably damaging	Het
Tln2	C	A	9: 67,219,093 (GRCm39)	R284L	probably damaging	Het
Ttn	C	T	2: 76,570,703 (GRCm39)	R26730Q	probably damaging	Het
Ttn	T	A	2: 76,540,808 (GRCm39)	R25732S	probably damaging	Het
Tubgcp4	T	C	2: 121,004,082 (GRCm39)	V41A	probably benign	Het
Usp53	T	A	3: 122,751,367 (GRCm39)	Q230L	probably damaging	Het
Vps9d1	G	T	8: 123,972,769 (GRCm39)	N454K	probably damaging	Het
Wdr55	T	C	18: 36,895,132 (GRCm39)		probably null	Het
Zfp263	T	A	16: 3,566,776 (GRCm39)	C76S	probably benign	Het

Other mutations in Vmn2r57

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Vmn2r57	APN	7	41,078,209 (GRCm39)	missense	probably benign
IGL01108:Vmn2r57	APN	7	41,077,008 (GRCm39)	missense	probably benign	0.01
IGL01516:Vmn2r57	APN	7	41,049,370 (GRCm39)	missense	probably damaging	1.00
IGL01880:Vmn2r57	APN	7	41,049,619 (GRCm39)	missense	possibly damaging	0.73
IGL02117:Vmn2r57	APN	7	41,049,874 (GRCm39)	missense	probably benign	0.00
IGL02500:Vmn2r57	APN	7	41,077,650 (GRCm39)	missense	probably benign
IGL02801:Vmn2r57	APN	7	41,098,056 (GRCm39)	missense	probably benign	0.13
IGL02993:Vmn2r57	APN	7	41,077,498 (GRCm39)	missense	probably benign	0.04
IGL02996:Vmn2r57	APN	7	41,049,165 (GRCm39)	missense	probably benign	0.02
R0008:Vmn2r57	UTSW	7	41,050,076 (GRCm39)	missense	probably damaging	1.00
R0032:Vmn2r57	UTSW	7	41,049,157 (GRCm39)	splice site	probably null
R0305:Vmn2r57	UTSW	7	41,076,967 (GRCm39)	missense	probably benign	0.00
R0469:Vmn2r57	UTSW	7	41,077,216 (GRCm39)	missense	possibly damaging	0.58
R0510:Vmn2r57	UTSW	7	41,077,216 (GRCm39)	missense	possibly damaging	0.58
R0847:Vmn2r57	UTSW	7	41,078,225 (GRCm39)	missense	probably benign	0.00
R1025:Vmn2r57	UTSW	7	41,077,228 (GRCm39)	missense	probably benign	0.24
R1081:Vmn2r57	UTSW	7	41,077,635 (GRCm39)	missense	possibly damaging	0.47
R1479:Vmn2r57	UTSW	7	41,077,254 (GRCm39)	missense	possibly damaging	0.45
R1579:Vmn2r57	UTSW	7	41,049,548 (GRCm39)	missense	probably benign	0.38
R1764:Vmn2r57	UTSW	7	41,050,067 (GRCm39)	missense	probably damaging	1.00
R1848:Vmn2r57	UTSW	7	41,077,531 (GRCm39)	missense	probably damaging	1.00
R2006:Vmn2r57	UTSW	7	41,098,001 (GRCm39)	missense	probably benign	0.00
R2197:Vmn2r57	UTSW	7	41,078,249 (GRCm39)	critical splice acceptor site	probably null
R2242:Vmn2r57	UTSW	7	41,077,498 (GRCm39)	missense	probably benign	0.00
R2394:Vmn2r57	UTSW	7	41,049,619 (GRCm39)	missense	possibly damaging	0.73
R3937:Vmn2r57	UTSW	7	41,077,554 (GRCm39)	missense	probably damaging	0.97
R4193:Vmn2r57	UTSW	7	41,077,663 (GRCm39)	missense	probably benign
R4423:Vmn2r57	UTSW	7	41,076,064 (GRCm39)	missense	probably damaging	1.00
R4865:Vmn2r57	UTSW	7	41,049,892 (GRCm39)	missense	probably damaging	1.00
R4947:Vmn2r57	UTSW	7	41,049,919 (GRCm39)	missense	probably damaging	1.00
R5042:Vmn2r57	UTSW	7	41,078,086 (GRCm39)	missense	probably benign	0.06
R5084:Vmn2r57	UTSW	7	41,075,974 (GRCm39)	critical splice donor site	probably null
R5177:Vmn2r57	UTSW	7	41,049,664 (GRCm39)	missense	probably benign	0.31
R5192:Vmn2r57	UTSW	7	41,077,363 (GRCm39)	missense	probably damaging	0.96
R5289:Vmn2r57	UTSW	7	41,049,398 (GRCm39)	missense	probably damaging	0.99
R5745:Vmn2r57	UTSW	7	41,097,895 (GRCm39)	missense	possibly damaging	0.51
R6051:Vmn2r57	UTSW	7	41,097,896 (GRCm39)	missense	probably benign	0.00
R6155:Vmn2r57	UTSW	7	41,078,114 (GRCm39)	missense	probably benign	0.14
R6248:Vmn2r57	UTSW	7	41,049,284 (GRCm39)	missense	probably benign
R6381:Vmn2r57	UTSW	7	41,078,242 (GRCm39)	missense	probably benign	0.08
R7019:Vmn2r57	UTSW	7	41,078,089 (GRCm39)	missense	probably damaging	1.00
R7126:Vmn2r57	UTSW	7	41,049,218 (GRCm39)	missense	possibly damaging	0.93
R7146:Vmn2r57	UTSW	7	41,097,895 (GRCm39)	missense	possibly damaging	0.51
R7215:Vmn2r57	UTSW	7	41,049,710 (GRCm39)	missense	probably benign	0.00
R7432:Vmn2r57	UTSW	7	41,076,148 (GRCm39)	missense	probably benign	0.01
R7633:Vmn2r57	UTSW	7	41,074,513 (GRCm39)	missense	possibly damaging	0.76
R7811:Vmn2r57	UTSW	7	41,074,439 (GRCm39)	nonsense	probably null
R8025:Vmn2r57	UTSW	7	41,076,183 (GRCm39)	missense	probably benign	0.00
R8332:Vmn2r57	UTSW	7	41,049,677 (GRCm39)	missense	probably benign	0.01
R8345:Vmn2r57	UTSW	7	41,076,968 (GRCm39)	missense	possibly damaging	0.81
R8360:Vmn2r57	UTSW	7	41,049,640 (GRCm39)	missense	probably damaging	1.00
R8738:Vmn2r57	UTSW	7	41,077,020 (GRCm39)	missense	probably benign	0.00
R8758:Vmn2r57	UTSW	7	41,078,163 (GRCm39)	missense	probably damaging	1.00
R8955:Vmn2r57	UTSW	7	41,049,571 (GRCm39)	missense	possibly damaging	0.64
R8985:Vmn2r57	UTSW	7	41,049,259 (GRCm39)	missense	probably benign
R9108:Vmn2r57	UTSW	7	41,078,192 (GRCm39)	missense	possibly damaging	0.87
R9160:Vmn2r57	UTSW	7	41,076,159 (GRCm39)	missense	possibly damaging	0.48
R9354:Vmn2r57	UTSW	7	41,049,663 (GRCm39)	missense	probably benign	0.01
R9566:Vmn2r57	UTSW	7	41,077,089 (GRCm39)	missense	probably benign	0.32
R9633:Vmn2r57	UTSW	7	41,076,006 (GRCm39)	missense	probably benign	0.00
X0026:Vmn2r57	UTSW	7	41,077,985 (GRCm39)	missense	possibly damaging	0.91
X0026:Vmn2r57	UTSW	7	41,077,549 (GRCm39)	missense	probably benign	0.03
X0065:Vmn2r57	UTSW	7	41,077,395 (GRCm39)	missense	probably benign	0.09
Z1176:Vmn2r57	UTSW	7	41,049,922 (GRCm39)	missense	probably damaging	0.99

Posted On

2013-06-21