|Institutional Source||Beutler Lab|
|Gene Name||protein kinase, DNA activated, catalytic polypeptide|
|Synonyms||slip, DOXNPH, DNA-PKcs, XRCC7, dxnph, DNA-PK, DNAPDcs|
|Essential gene?||Probably essential (E-score: 0.942)|
|Stock #||R7401 (G1)|
|Chromosomal Location||15637866-15842235 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 15648738 bp (GRCm38)|
|Amino Acid Change||Valine to Aspartic acid at position 58 (V58D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023352 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023352]|
|AlphaFold||no structure available at present|
AA Change: V58D
PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
AA Change: V58D
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the catalytic subunit of the DNA-dependent protein kinase (DNA-PK). It functions with the Ku70/Ku80 heterodimer protein in DNA double strand break repair and recombination. The protein encoded is a member of the PI3/PI4-kinase family.[provided by RefSeq, Jul 2010]
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. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Prkdc||
(F):5'- GCTTACTGCATCTTTGTGGAAC -3'
(R):5'- CAAGAGAGTAATGCATAACCTTCTGG -3'
(F):5'- CTGCATCTTTGTGGAACAAAATC -3'
(R):5'- AAAAACTTTAGGGCTTCTTCTCTAC -3'