Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02094:Mgl2'

279540

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02094

Quality Score

Status

Chromosome

Chromosomal Location

70130329-70137550 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70137097 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 377 (I377K)

Ref Sequence

ENSEMBL: ENSMUSP00000131344 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000041550
AA Change: I328K

SMART Domains

Protein: ENSMUSP00000048568
Gene: ENSMUSG00000040950
AA Change: I328K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108584
AA Change: I370K

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000104225
Gene: ENSMUSG00000040950
AA Change: I370K

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

possibly damaging
Transcript: ENSMUST00000165951
AA Change: I377K

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000131344
Gene: ENSMUSG00000040950
AA Change: I377K

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	T	C	8: 55,871,445	N658S	possibly damaging	Het
Adcy10	T	C	1: 165,570,620	Y1429H	probably damaging	Het
Aebp1	G	A	11: 5,868,357	M98I	probably benign	Het
Arl3	T	C	19: 46,558,341	D15G	probably benign	Het
Casp2	T	A	6: 42,280,359	I414N	probably damaging	Het
Ceacam1	T	C	7: 25,474,543	D229G	probably damaging	Het
Cog7	G	T	7: 121,963,247	A234E	probably benign	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Cyp3a59	A	T	5: 146,104,821	T392S	probably benign	Het
Ebf2	G	A	14: 67,235,240	V36M	possibly damaging	Het
Fbxw15	A	C	9: 109,558,240	V229G	possibly damaging	Het
Got1l1	A	G	8: 27,199,845	V171A	probably benign	Het
Itgax	A	G	7: 128,131,473	Y121C	probably damaging	Het
Kcng4	C	A	8: 119,633,221	A139S	probably damaging	Het
Kcnj9	G	T	1: 172,325,708	T283K	probably damaging	Het
Myo15	T	C	11: 60,510,647		probably benign	Het
Nod1	A	T	6: 54,939,390		probably null	Het
Nr1h5	A	T	3: 102,952,196	C182*	probably null	Het
Nup210l	G	T	3: 90,180,213		probably null	Het
Ptbp2	G	A	3: 119,752,940		probably benign	Het
Ptpn13	T	G	5: 103,594,617	F2401V	probably damaging	Het
Rbbp6	T	C	7: 122,997,262	S676P	probably damaging	Het
Recql4	T	A	15: 76,709,517	Q131L	probably benign	Het
Sbno2	G	A	10: 80,057,645	P1274L	probably benign	Het
Sec24c	T	C	14: 20,688,402	V341A	probably damaging	Het
Smc1b	A	T	15: 85,097,891		probably benign	Het
Sptbn1	T	C	11: 30,100,659	H2310R	probably benign	Het
Tas2r109	T	A	6: 132,980,239	I243F	possibly damaging	Het
Trpc1	A	C	9: 95,743,281	D97E	probably damaging	Het
Trpm2	G	A	10: 77,942,996	Q379*	probably null	Het
Ttn	A	G	2: 76,818,823		probably benign	Het
Vmn2r74	A	T	7: 85,961,461	F8I	probably benign	Het
Zfp36	C	T	7: 28,377,763	S240N	probably benign	Het
Zfp65	A	G	13: 67,708,185	I325T	possibly damaging	Het

Other mutations in Mgl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00677:Mgl2	APN	11	70137106	missense	probably benign	0.33
IGL00757:Mgl2	APN	11	70135150	missense	probably damaging	1.00
IGL00838:Mgl2	APN	11	70134212	missense	probably benign	0.00
IGL01118:Mgl2	APN	11	70134189	missense	probably benign	0.00
IGL01613:Mgl2	APN	11	70134158	missense	probably benign	0.08
IGL03000:Mgl2	APN	11	70134200	nonsense	probably null
R1893:Mgl2	UTSW	11	70134167	splice site	probably null
R3767:Mgl2	UTSW	11	70135833	missense	probably damaging	1.00
R3768:Mgl2	UTSW	11	70135833	missense	probably damaging	1.00
R3769:Mgl2	UTSW	11	70135833	missense	probably damaging	1.00
R5467:Mgl2	UTSW	11	70135052	missense	possibly damaging	0.46
R5742:Mgl2	UTSW	11	70136684	missense	probably benign	0.00
R6018:Mgl2	UTSW	11	70137111	makesense	probably null
R7189:Mgl2	UTSW	11	70137043	missense	probably damaging	1.00
R7270:Mgl2	UTSW	11	70135680	missense	probably damaging	1.00
R7536:Mgl2	UTSW	11	70137007	missense	probably benign	0.02
R8330:Mgl2	UTSW	11	70135959	missense	probably benign	0.03

Posted On

2015-04-16