D402A : Mutation rate in mouse cells

Homozygosity for the Pold1^D400A mutation mimicking human POLD1-D402A increases the mutation rate in cultured mouse embryonic fibroblasts and fibrosarcoma cells. Heterozygous Pold1^+/D400A cells show a marginal to no mutator phenotype, depending on the reporter gene used.

• Goldsby, R.E. et al. High incidence of epithelial cancers in mice deficient for DNA polymerase δ proofreading. Proc Natl Acad Sci USA 99, 15560-15565 (2002). https://pubmed.ncbi.nlm.nih.gov/12429860/
• Albertson, T.M., et al. DNA polymerase ε and δ proofreading suppress discrete mutator and cancer phenotypes in mice. Proc Natl Acad Sci USA 106, 17101–17104 (2009). https://pubmed.ncbi.nlm.nih.gov/19805137/