Lama2 - SNV Details



 Human Rare Diseases 
Congenital muscular dystrophy type 1A

 Gene Information 
Gene Name Lama2
Gene Description laminin, alpha 2 [Source:MGI Symbol;Acc:MGI:99912]
MGI phenotype Homozygotes for targeted and spontaneous mutations exhibit progressive growth retardation, ataxia, muscle atrophy and degeneration, infertility, and premature lethality. Muscle fiber degeneration is evident as early as the first week of life.
Uniprot Name
CCDS Name
Gene GO
basement membrane; membrane; regulation of cell migration; sarcolemma; cell adhesion; basal lamina; regulation of embryonic development; protein binding; vesicle-mediated transport; axon guidance; receptor binding; positive regulation of synaptic transmission
cholinergic; laminin-1 complex; regulation of cell adhesion
Homolog in other species LAMA2
Omim http://omim.org/entry/156225
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
Gnf Expression
LOW/MEDIAN(HIGH IN FERTILIZEDEGG, OOCYTE)
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000019899
Chromosome 10
Coordinate 27,006,742     (Assembly: GRCm38)    
Ref Base T
Codon Change aaA/aaC
Var Base G
Zygosity Heterozygous
Read Depth 52
Allele Frequency
T:R0.46
G:V0.54
Amino Acid Position 2608
Amino Acid Change K->N (Lysine -> Asparagine)
Sample ID IGL01694
Median Base Quality 37.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 33 Other Mutations

 Predictions 
Sift Score 0.04
Sift Prediction deleterious

 Availability Details 
Availability Progeny Cryopreserved