Nonsense mutation in exon 8.
C12073397T
C?G
R921term | ATP8B-PB; R742term | ATP8B-PC; R691term | ATP8B-PD; R512term | ATP8B-PF; R657term | ATP8B-PG; R742term | ATP8B-PH; R657term | ATP8B-PI
R913term
The location of the mutation was reported as R913. This is based on an obsolete annotation (ATP8B-PA - see FB release 3.2). This maps to R921 in ATP8B-PB. An RNA-seq-supported splice junction change accounts for the 8aa difference in sequence between the two isoforms.
The mutant is unresponsive to 1% cVA (11-cis-vaccenyl acetate) and also lacks normal spontaneous action potentials in the absence of cVA. Approximately half of the Or67d-neurons from this line are insensitive to all concentrations of cVA.