|Institutional Source||Beutler Lab|
|Gene Name||beta-site APP-cleaving enzyme 2|
|Synonyms||1110059C24Rik, ARP1, BAE2, ALP56, ASP21, CDA13, CEAP1|
|Is this an essential gene?||Probably non essential (E-score: 0.078)|
|Stock #||R0906 (G1)|
|Chromosomal Location||97356742-97442936 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 97356941 bp|
|Amino Acid Change||Proline to Leucine at position 47 (P47L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000043918 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000047275]|
|Predicted Effect||possibly damaging
AA Change: P47L
PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: P47L
|Meta Mutation Damage Score||0.1080|
|Coding Region Coverage||
|Validation Efficiency||100% (33/33)|
FUNCTION: This gene encodes a member of the peptidase A1 family of aspartic proteases. The encoded preproprotein undergoes proteolytic processing to generate an active endopeptidase enzyme. This transmembrane protease catalyzes the proteolysis of amyloid precursor protein to produce amyloid beta peptide. Mice lacking the encoded product exhibit increased pancreatic beta cell mass and improved glucose tolerance due to increased insulin secretion. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous mutation of this gene results in impaired APP processing by neurons and glia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Bace2||
(F):5'- TGAGAACTTGTTCAACTCTGCACCG -3'
(R):5'- CTTCTTCCCAGTGAAAGCTACTGCC -3'
(F):5'- GGCTAAGGACCGCAGAACC -3'
(R):5'- CTTAGGGACGGCATTAAATCGC -3'