A2m - SNV Details



 Gene Information 
Gene Name A2m
Old Gene Names for A2m Ai893533
Gene Description alpha-2-macroglobulin [Source:MGI Symbol;Acc:MGI:2449119]
Uniprot Name
CCDS Name
Gene GO
negative regulation of complement activation
lectin pathway; peptidase inhibitor activity; growth factor binding; enzyme binding; calcium-dependent protein binding; protease binding; serine-type endopeptidase inhibitor activity; protein binding; interleukin-1 binding; extracellular vesicular exosome; stem cell differentiation; tumor necrosis factor binding; interleukin-8 binding; extracellular region; endopeptidase inhibitor activity; receptor binding; extracellular space; blood microparticle; negative regulation of endopeptidase activity; female pregnancy
Homolog in other species A2M
Omim http://omim.org/entry/103950
Immgen Expression
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
Gnf Expression
MEDIAN(HIGH IN UMBLICALCORD, PLACENTA, LUNG)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000030111
Chromosome 6
Coordinate 121,667,163     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 27
Allele Frequency
T:R0.48
A:V0.52
Amino Acid Change V->E (Valine -> Glutamic acid)
Sample ID IGL03303
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 47 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved