Pck2 - SNV Details



 Human Rare Diseases 
Phosphoenolpyruvate carboxykinase 2 deficiency

 Gene Information 
Gene Name Pck2
Old Gene Names for Pck2 9130022b02rik , 1810010o14rik
Gene Description phosphoenolpyruvate carboxykinase 2 (mitochondrial) [Source:MGI Symbol;Acc:MGI:1860456]
Uniprot Name
CCDS Name
Gene GO
mitochondrion; gluconeogenesis; oxaloacetate metabolic process; metal ion binding; phosphoenolpyruvate carboxykinase (GTP) activity; phosphoenolpyruvate carboxykinase activity; response to glucocorticoid stimulus; protein binding; purine nucleotide binding; GTP binding
Homolog in other species PCK2
Omim http://omim.org/entry/614095
Immgen Expression
MEDIAN(HIGHER IN BCELL GROUP)
Gnf Expression
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000040618
Chromosome 14
Coordinate 55,544,069     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 23
Allele Frequency
T:R0.43
C:V0.56
Amino Acid Change Disrupted splicing
Sample ID IGL01012
Median Base Quality 35
Backgrounds Balb/C,C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 67 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved