Mutagenetix > Incidental Mutation

Incidental Mutation 'R2449:Vmn2r56'

248941

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r56

Ensembl Gene

ENSMUSG00000090762

Gene Name

vomeronasal 2, receptor 56

Synonyms

EG629079

Accession Numbers

Essential gene?

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

Stock #

R2449 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12427787-12468785 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 12428082 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 728 (S728N)

Ref Sequence

ENSEMBL: ENSMUSP00000129566 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163852]

AlphaFold

A0A3B2WBA1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163852
AA Change: S728N

PolyPhen 2 Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000129566
Gene: ENSMUSG00000090762
AA Change: S728N

Domain	Start	End	E-Value	Type
Pfam:ANF_receptor	5	397	1.9e-55	PFAM
Pfam:NCD3G	439	492	6.4e-20	PFAM
Pfam:7tm_3	523	760	1.3e-53	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Cd83	A	T	13: 43,951,132 (GRCm39)	T95S	probably damaging	Het
Cdc27	T	C	11: 104,396,464 (GRCm39)	D819G	probably benign	Het
Hey2	A	T	10: 30,716,442 (GRCm39)	I64K	possibly damaging	Het
Il10rb	A	G	16: 91,208,791 (GRCm39)	H67R	probably benign	Het
Itgav	T	A	2: 83,599,094 (GRCm39)		probably null	Het
Lhx1	G	A	11: 84,412,564 (GRCm39)	R119C	probably damaging	Het
Ltbp3	G	A	19: 5,804,050 (GRCm39)	R854Q	probably benign	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or12j2	A	T	7: 139,916,345 (GRCm39)	Q190L	probably benign	Het
Siglec1	T	C	2: 130,920,645 (GRCm39)	T720A	probably benign	Het
Sycp1	T	C	3: 102,832,522 (GRCm39)	I215V	probably benign	Het
Trim63	A	G	4: 134,050,418 (GRCm39)	E234G	probably damaging	Het
Wdr64	A	T	1: 175,526,479 (GRCm39)	I43L	probably benign	Het
Wsb1	T	C	11: 79,131,178 (GRCm39)	K406R	probably benign	Het

Other mutations in Vmn2r56

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00902:Vmn2r56	APN	7	12,449,426 (GRCm39)	missense	probably benign	0.38
IGL01060:Vmn2r56	APN	7	12,447,016 (GRCm39)	missense	probably damaging	0.97
IGL01433:Vmn2r56	APN	7	12,449,541 (GRCm39)	missense	probably benign
IGL01859:Vmn2r56	APN	7	12,449,932 (GRCm39)	missense	probably damaging	1.00
IGL01874:Vmn2r56	APN	7	12,449,602 (GRCm39)	missense	probably benign	0.03
IGL02208:Vmn2r56	APN	7	12,449,408 (GRCm39)	missense	probably benign	0.01
PIT4445001:Vmn2r56	UTSW	7	12,449,153 (GRCm39)	critical splice donor site	probably null
R0077:Vmn2r56	UTSW	7	12,449,332 (GRCm39)	missense	probably benign	0.01
R0278:Vmn2r56	UTSW	7	12,449,644 (GRCm39)	missense	probably damaging	0.99
R0512:Vmn2r56	UTSW	7	12,449,350 (GRCm39)	missense	probably benign
R0658:Vmn2r56	UTSW	7	12,444,235 (GRCm39)	missense	probably benign	0.10
R0789:Vmn2r56	UTSW	7	12,466,762 (GRCm39)	missense	probably damaging	1.00
R1534:Vmn2r56	UTSW	7	12,427,954 (GRCm39)	missense	probably benign
R1731:Vmn2r56	UTSW	7	12,466,972 (GRCm39)	missense	probably benign
R1817:Vmn2r56	UTSW	7	12,449,542 (GRCm39)	missense	probably benign
R2047:Vmn2r56	UTSW	7	12,466,918 (GRCm39)	missense	probably damaging	1.00
R2139:Vmn2r56	UTSW	7	12,446,890 (GRCm39)	nonsense	probably null
R2160:Vmn2r56	UTSW	7	12,428,146 (GRCm39)	missense	probably benign	0.43
R2877:Vmn2r56	UTSW	7	12,444,954 (GRCm39)	missense	probably benign
R2878:Vmn2r56	UTSW	7	12,444,954 (GRCm39)	missense	probably benign
R4910:Vmn2r56	UTSW	7	12,449,462 (GRCm39)	missense	possibly damaging	0.64
R5072:Vmn2r56	UTSW	7	12,427,983 (GRCm39)	missense	probably benign	0.40
R5340:Vmn2r56	UTSW	7	12,449,799 (GRCm39)	missense	probably damaging	1.00
R5697:Vmn2r56	UTSW	7	12,449,917 (GRCm39)	missense	probably damaging	1.00
R5798:Vmn2r56	UTSW	7	12,446,892 (GRCm39)	missense	probably benign	0.00
R6166:Vmn2r56	UTSW	7	12,427,947 (GRCm39)	missense	probably damaging	1.00
R6290:Vmn2r56	UTSW	7	12,428,809 (GRCm39)	missense	probably damaging	1.00
R6458:Vmn2r56	UTSW	7	12,427,984 (GRCm39)	missense	probably damaging	0.99
R6751:Vmn2r56	UTSW	7	12,428,719 (GRCm39)	missense	probably benign
R6978:Vmn2r56	UTSW	7	12,449,333 (GRCm39)	missense	probably benign	0.01
R7090:Vmn2r56	UTSW	7	12,449,254 (GRCm39)	missense	probably damaging	1.00
R7200:Vmn2r56	UTSW	7	12,444,259 (GRCm39)	missense	probably damaging	1.00
R7861:Vmn2r56	UTSW	7	12,449,351 (GRCm39)	missense	probably benign	0.00
R8222:Vmn2r56	UTSW	7	12,444,960 (GRCm39)	missense	probably benign
R8282:Vmn2r56	UTSW	7	12,449,601 (GRCm39)	nonsense	probably null
R8786:Vmn2r56	UTSW	7	12,449,393 (GRCm39)	missense	probably damaging	1.00
R8970:Vmn2r56	UTSW	7	12,428,632 (GRCm39)	missense	probably damaging	1.00
R9230:Vmn2r56	UTSW	7	12,444,237 (GRCm39)	missense	possibly damaging	0.70
RF002:Vmn2r56	UTSW	7	12,428,757 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CCCTGAGGACTAACACCTTCTG -3'
(R):5'- TGTCATCCAATGCCATGATGG -3'

Sequencing Primer
(F):5'- GTGGAGCATCTAACTCTGCC -3'
(R):5'- CATCCAATGCCATGATGGTTCTGG -3'

Posted On

2014-11-12