Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00677:Mgl2'

11998

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mgl2

Ensembl Gene

ENSMUSG00000040950

Gene Name

macrophage galactose N-acetyl-galactosamine specific lectin 2

Synonyms

CD301b

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00677

Quality Score

Status

Chromosome

Chromosomal Location

70021155-70028376 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70027932 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 380 (V380A)

Ref Sequence

ENSEMBL: ENSMUSP00000131344 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041550] [ENSMUST00000108584] [ENSMUST00000165951]

AlphaFold

A9XX86

Predicted Effect

unknown
Transcript: ENSMUST00000041550
AA Change: V331A

SMART Domains

Protein: ENSMUSP00000048568
Gene: ENSMUSG00000040950
AA Change: V331A

Domain	Start	End	E-Value	Type
Pfam:Lectin_N	6	179	4.6e-56	PFAM
CLECT	189	313	2.37e-35	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108584
AA Change: V373A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000104225
Gene: ENSMUSG00000040950
AA Change: V373A

Domain	Start	End	E-Value	Type
Pfam:Lectin_N	8	173	8.6e-56	PFAM
CLECT	183	355	5.76e-25	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132645

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147502

Predicted Effect

probably benign
Transcript: ENSMUST00000165951
AA Change: V380A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000131344
Gene: ENSMUSG00000040950
AA Change: V380A

Domain	Start	End	E-Value	Type
Pfam:Lectin_N	21	133	2.1e-35	PFAM
Pfam:Lectin_N	129	180	5.4e-19	PFAM
CLECT	190	362	5.76e-25	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice that are either homozygous or heterozygous for a reporter allele are viable and fertile. In heterozygotes, transient depletion of CD301b+ dermal dendritic cells by injection of diptheria toxin results in impaired T helper 2 (Th2) cell mediated immunity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 8 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cyb5b	A	G	8: 107,897,048 (GRCm39)	D106G	probably benign	Het
Ecm2	G	A	13: 49,684,794 (GRCm39)	E634K	probably benign	Het
Muc5b	A	T	7: 141,411,631 (GRCm39)	K1526*	probably null	Het
Naip6	G	A	13: 100,452,525 (GRCm39)	R179C	probably benign	Het
Nin	T	A	12: 70,073,634 (GRCm39)	K1173I	probably damaging	Het
Nol4	G	T	18: 23,054,924 (GRCm39)	P96T	probably damaging	Het
Spink11	C	T	18: 44,325,701 (GRCm39)		probably null	Het
Srgap2	A	T	1: 131,284,438 (GRCm39)	M231K	possibly damaging	Het

Other mutations in Mgl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00757:Mgl2	APN	11	70,025,976 (GRCm39)	missense	probably damaging	1.00
IGL00838:Mgl2	APN	11	70,025,038 (GRCm39)	missense	probably benign	0.00
IGL01118:Mgl2	APN	11	70,025,015 (GRCm39)	missense	probably benign	0.00
IGL01613:Mgl2	APN	11	70,024,984 (GRCm39)	missense	probably benign	0.08
IGL02094:Mgl2	APN	11	70,027,923 (GRCm39)	missense	possibly damaging	0.73
IGL03000:Mgl2	APN	11	70,025,026 (GRCm39)	nonsense	probably null
R1893:Mgl2	UTSW	11	70,024,993 (GRCm39)	splice site	probably null
R3767:Mgl2	UTSW	11	70,026,659 (GRCm39)	missense	probably damaging	1.00
R3768:Mgl2	UTSW	11	70,026,659 (GRCm39)	missense	probably damaging	1.00
R3769:Mgl2	UTSW	11	70,026,659 (GRCm39)	missense	probably damaging	1.00
R5467:Mgl2	UTSW	11	70,025,878 (GRCm39)	missense	possibly damaging	0.46
R5742:Mgl2	UTSW	11	70,027,510 (GRCm39)	missense	probably benign	0.00
R6018:Mgl2	UTSW	11	70,027,937 (GRCm39)	makesense	probably null
R7189:Mgl2	UTSW	11	70,027,869 (GRCm39)	missense	probably damaging	1.00
R7270:Mgl2	UTSW	11	70,026,506 (GRCm39)	missense	probably damaging	1.00
R7536:Mgl2	UTSW	11	70,027,833 (GRCm39)	missense	probably benign	0.02
R8330:Mgl2	UTSW	11	70,026,785 (GRCm39)	missense	probably benign	0.03
R9174:Mgl2	UTSW	11	70,026,606 (GRCm39)	missense	probably benign	0.00

Posted On

2012-12-06