Enpp1 - SNV Details



 Human Rare Diseases 
Generalized arterial calcification of infancy
Autosomal recessive hypophosphatemic rickets

 Gene Information 
Gene Name Enpp1
Old Gene Names for Enpp1 Ly-41 , C76301 , 4833416e15rik , Ai428932 , Pdnp1 , Npps , Pca , Pca-1
Gene Description ectonucleotide pyrophosphatase/phosphodiesterase 1 [Source:MGI Symbol;Acc:MGI:97370]
MGI phenotype Mice homozygous for a spontaneous allele or knock-out allele exhibit calcification of articular and intervertebral joints, hypercalcification of osteoblasts, and calcinosis.
Uniprot Name
CCDS Name
Gene GO
phosphate-containing compound metabolic process; bone remodeling; negative regulation of protein autophosphorylation; negative regulation of glucose import; negative regulation of ossification; insulin receptor binding; catalytic activity; negative regulation of glycogen biosynthetic process; generation of precursor metabolites and energy; negative regulation of insulin receptor signaling pathway; hydrolase activity; lysosomal membrane; metal ion binding; immune response; nucleoside-triphosphate diphosphatase activity; zinc ion binding; 3'-phosphoadenosine 5'-phosphosulfate metabolic process; cellular phosphate ion homeostasis; protein homodimerization activity; metabolic process; protein binding; cell surface; integral component of membrane; nucleotide diphosphatase activity; biomineral tissue development; phosphodiesterase I activity; negative regulation of fat cell differentiation; sequestering of triglyceride; negative regulation of cell growth; receptor-mediated endocytosis; polysaccharide binding; NADH pyrophosphatase activity; nucleic acid binding; inorganic diphosphate transport; integral component of plasma membrane; ATP binding; plasma membrane; nucleoside triphosphate catabolic process; nucleic acid phosphodiester bond hydrolysis; calcium ion binding; basolateral plasma membrane; extracellular space; cellular response to insulin stimulus; ATP catabolic process; scavenger receptor activity
Homolog in other species ENPP1
Omim http://omim.org/entry/173335
Immgen Expression
MEDIAN(HIGH IN BCELL GROUP, DC GROUP, NK GROUP)
Gnf Expression
MEDIAN(HIGH IN OSTEOBLASTS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000037370
Chromosome 10
Coordinate 24,669,025     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 46
Allele Frequency
A:R0.57
G:V0.44
Amino Acid Change Y->H (Tyrosine -> Histidine)
Sample ID IGL03365
Median Base Quality 38.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 47 Other Mutations

 Predictions 

 Availability Details 
Availability Progeny Cryopreserved