Prkdc - SNV Details



 Human Rare Diseases 
Severe combined immunodeficiency due to DNA-PKcs deficiency

 Gene Information 
Gene Name Prkdc
Old Gene Names for Prkdc Ai326420 , Au019811
Gene Description protein kinase, DNA activated, catalytic polypeptide [Source:MGI Symbol;Acc:MGI:104779]
MGI phenotype Mutations at this locus effect genome stability, radiation sensitivity and DNA repair. Nonsense (scid) and null homozygotes have severe combined immunodeficiency. A BALB/c variant allele reduces enzyme activity and predisposes to breast cancer.
Uniprot Name
CCDS Name
Gene GO
T cell differentiation in thymus; somitogenesis; negative regulation of protein phosphorylation; enzyme binding; T cell lineage commitment; membrane; positive regulation of transcription from RNA polymerase II promoter; DNA-dependent protein kinase activity; double-strand break repair via nonhomologous end joining; positive regulation of apoptotic process; ectopic germ cell programmed cell death; poly(A) RNA binding; pro-B cell differentiation; DNA binding; transferase activity
transferring phosphorus-containing groups; transcription factor complex; intrinsic apoptotic signaling pathway in response to DNA damage; protein binding; T cell receptor V(D)J recombination; peptidyl-serine phosphorylation; binding; response to gamma radiation; DNA-dependent protein kinase-DNA ligase 4 complex; nucleus; telomere maintenance; double-strand break repair; phosphotransferase activity
alcohol group as acceptor; immunoglobulin V(D)J recombination; B cell lineage commitment; nonhomologous end joining complex; ATP binding; lymphocyte differentiation; nucleolus; heart development; transcription factor binding; cellular response to insulin stimulus; regulation of circadian rhythm; protein serine/threonine kinase activity; brain development; signal transduction involved in mitotic G1 DNA damage checkpoint; protein destabilization
Homolog in other species PRKDC
Omim http://omim.org/entry/600899
Immgen Expression
MEDIAN(LOWER IN MYELOID GROUP, DC.LC.SK)
Gnf Expression
MEDIAN(HIGH IN IMM.G1, IMM.G3)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000022672
Chromosome 16
Coordinate 15,652,358     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 38
Allele Frequency
T:R0.39
C:V0.60
Amino Acid Change Disrupted splicing
Splice Position 7
Sample ID IGL00587
Median Base Quality 35
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 26 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved