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

Is this an essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

IGL01112

Quality Score

Status

Chromosome

Chromosomal Location

41399732-41448641 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41425043 bp (GRCm38)

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: 144,637,145	I401V	possibly damaging	Het
Ap2a2	A	T	7: 141,605,019		probably benign	Het
Apol7c	T	A	15: 77,526,437	D103V	probably damaging	Het
Arid4a	T	C	12: 71,072,733		probably null	Het
Atp2a1	A	G	7: 126,450,307	V521A	probably benign	Het
Ccdc88c	G	T	12: 100,916,803	D1603E	probably benign	Het
Clec4f	T	C	6: 83,653,200	I125M	probably benign	Het
Dsc1	T	C	18: 20,094,622	I520V	probably benign	Het
Eomes	G	A	9: 118,482,266	A386T	probably damaging	Het
Gldc	C	T	19: 30,158,513		probably null	Het
Hectd4	G	T	5: 121,306,950	M1420I	probably benign	Het
Hmcn1	A	T	1: 150,632,552		probably benign	Het
Ighv6-3	G	A	12: 114,391,715	T118I	possibly damaging	Het
Krt82	A	G	15: 101,545,523	F250S	probably damaging	Het
Ltb	A	G	17: 35,194,600	T27A	probably benign	Het
Mex3b	T	A	7: 82,869,703	S409T	probably benign	Het
Mki67	A	T	7: 135,714,016	I39N	probably damaging	Het
Olfr576	A	G	7: 102,966,028		probably benign	Het
Palmd	A	G	3: 116,924,273	S192P	probably damaging	Het
Pcdh20	A	T	14: 88,467,200	M888K	probably benign	Het
Pclo	A	T	5: 14,681,069	H3195L	unknown	Het
Pgm1	A	T	5: 64,102,882	I137F	possibly damaging	Het
Polq	T	A	16: 37,017,309	N194K	probably damaging	Het
Rmnd1	T	C	10: 4,410,793		probably null	Het
Rnf114	T	C	2: 167,512,539	M180T	probably damaging	Het
Sap30	A	G	8: 57,485,089	F165L	possibly damaging	Het
Scgb3a2	T	A	18: 43,766,994		probably benign	Het
Sftpa1	A	T	14: 41,132,570	N38I	probably benign	Het
Sumf1	A	G	6: 108,176,016	F137S	probably damaging	Het
Tln2	C	A	9: 67,311,811	R284L	probably damaging	Het
Ttn	T	A	2: 76,710,464	R25732S	probably damaging	Het
Ttn	C	T	2: 76,740,359	R26730Q	probably damaging	Het
Tubgcp4	T	C	2: 121,173,601	V41A	probably benign	Het
Usp53	T	A	3: 122,957,718	Q230L	probably damaging	Het
Vps9d1	G	T	8: 123,246,030	N454K	probably damaging	Het
Wdr55	T	C	18: 36,762,079		probably null	Het
Zfp263	T	A	16: 3,748,912	C76S	probably benign	Het

Other mutations in Vmn2r57

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Vmn2r57	APN	7	41428785	missense	probably benign
IGL01108:Vmn2r57	APN	7	41427584	missense	probably benign	0.01
IGL01516:Vmn2r57	APN	7	41399946	missense	probably damaging	1.00
IGL01880:Vmn2r57	APN	7	41400195	missense	possibly damaging	0.73
IGL02117:Vmn2r57	APN	7	41400450	missense	probably benign	0.00
IGL02500:Vmn2r57	APN	7	41428226	missense	probably benign
IGL02801:Vmn2r57	APN	7	41448632	missense	probably benign	0.13
IGL02993:Vmn2r57	APN	7	41428074	missense	probably benign	0.04
IGL02996:Vmn2r57	APN	7	41399741	missense	probably benign	0.02
R0008:Vmn2r57	UTSW	7	41400652	missense	probably damaging	1.00
R0032:Vmn2r57	UTSW	7	41399733	splice site	probably null
R0305:Vmn2r57	UTSW	7	41427543	missense	probably benign	0.00
R0469:Vmn2r57	UTSW	7	41427792	missense	possibly damaging	0.58
R0510:Vmn2r57	UTSW	7	41427792	missense	possibly damaging	0.58
R0847:Vmn2r57	UTSW	7	41428801	missense	probably benign	0.00
R1025:Vmn2r57	UTSW	7	41427804	missense	probably benign	0.24
R1081:Vmn2r57	UTSW	7	41428211	missense	possibly damaging	0.47
R1479:Vmn2r57	UTSW	7	41427830	missense	possibly damaging	0.45
R1579:Vmn2r57	UTSW	7	41400124	missense	probably benign	0.38
R1764:Vmn2r57	UTSW	7	41400643	missense	probably damaging	1.00
R1848:Vmn2r57	UTSW	7	41428107	missense	probably damaging	1.00
R2006:Vmn2r57	UTSW	7	41448577	missense	probably benign	0.00
R2197:Vmn2r57	UTSW	7	41428825	critical splice acceptor site	probably null
R2242:Vmn2r57	UTSW	7	41428074	missense	probably benign	0.00
R2394:Vmn2r57	UTSW	7	41400195	missense	possibly damaging	0.73
R3937:Vmn2r57	UTSW	7	41428130	missense	probably damaging	0.97
R4193:Vmn2r57	UTSW	7	41428239	missense	probably benign
R4423:Vmn2r57	UTSW	7	41426640	missense	probably damaging	1.00
R4865:Vmn2r57	UTSW	7	41400468	missense	probably damaging	1.00
R4947:Vmn2r57	UTSW	7	41400495	missense	probably damaging	1.00
R5042:Vmn2r57	UTSW	7	41428662	missense	probably benign	0.06
R5084:Vmn2r57	UTSW	7	41426550	critical splice donor site	probably null
R5177:Vmn2r57	UTSW	7	41400240	missense	probably benign	0.31
R5192:Vmn2r57	UTSW	7	41427939	missense	probably damaging	0.96
R5289:Vmn2r57	UTSW	7	41399974	missense	probably damaging	0.99
R5745:Vmn2r57	UTSW	7	41448471	missense	possibly damaging	0.51
R6051:Vmn2r57	UTSW	7	41448472	missense	probably benign	0.00
R6155:Vmn2r57	UTSW	7	41428690	missense	probably benign	0.14
R6248:Vmn2r57	UTSW	7	41399860	missense	probably benign
R6381:Vmn2r57	UTSW	7	41428818	missense	probably benign	0.08
R7019:Vmn2r57	UTSW	7	41428665	missense	probably damaging	1.00
R7126:Vmn2r57	UTSW	7	41399794	missense	possibly damaging	0.93
R7146:Vmn2r57	UTSW	7	41448471	missense	possibly damaging	0.51
R7215:Vmn2r57	UTSW	7	41400286	missense	probably benign	0.00
R7432:Vmn2r57	UTSW	7	41426724	missense	probably benign	0.01
R7633:Vmn2r57	UTSW	7	41425089	missense	possibly damaging	0.76
R7811:Vmn2r57	UTSW	7	41425015	nonsense	probably null
R8025:Vmn2r57	UTSW	7	41426759	missense	probably benign	0.00
R8332:Vmn2r57	UTSW	7	41400253	missense	probably benign	0.01
R8345:Vmn2r57	UTSW	7	41427544	missense	possibly damaging	0.81
R8360:Vmn2r57	UTSW	7	41400216	missense	probably damaging	1.00
R8738:Vmn2r57	UTSW	7	41427596	missense	probably benign	0.00
R8758:Vmn2r57	UTSW	7	41428739	missense	probably damaging	1.00
R8955:Vmn2r57	UTSW	7	41400147	missense	possibly damaging	0.64
R8985:Vmn2r57	UTSW	7	41399835	missense	probably benign
R9108:Vmn2r57	UTSW	7	41428768	missense	possibly damaging	0.87
R9160:Vmn2r57	UTSW	7	41426735	missense	possibly damaging	0.48
R9354:Vmn2r57	UTSW	7	41400239	missense	probably benign	0.01
R9566:Vmn2r57	UTSW	7	41427665	missense	probably benign	0.32
X0026:Vmn2r57	UTSW	7	41428125	missense	probably benign	0.03
X0026:Vmn2r57	UTSW	7	41428561	missense	possibly damaging	0.91
X0065:Vmn2r57	UTSW	7	41427971	missense	probably benign	0.09
Z1176:Vmn2r57	UTSW	7	41400498	missense	probably damaging	0.99

Posted On

2013-06-21