Opa1^lilr3

ENU mutagenesis induced an A-to-G mutation in intron 19 (ENSMUST00000160597) or 20 (in ENSMUST00000038867) that creates a cryptic splice acceptor site. The aberrant splice site is employed in the production of the major processed transcripts from the mutant allele, which retain 6 bp of intronic sequence 5' of exon 20 (ENSMUST00000160597) or 21 (ENSMUST00000038867). This replaces the evolutionarily invariant tryptophan (W616 in UNIPROT:P58281-1, W634 in UNIPROT:H7BX01), in the highly conserved middle domain of the protein, with CysLeuArg. The mutant OPA1 protein is expressed and stable, but it is mislocalized to the cytosol instead of to the mitochondria. (J:162916)