|Institutional Source||Beutler Lab|
|Gene Name||amyloid beta precursor protein (cytoplasmic tail) binding protein 2|
|Is this an essential gene?||Probably essential (E-score: 0.797)|
|Stock #||R0267 (G1)|
|Chromosomal Location||85187262-85235130 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 85201462 bp|
|Amino Acid Change||Tyrosine to Cysteine at position 297 (Y297C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000018625 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000018625]|
|Predicted Effect||probably damaging
AA Change: Y297C
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y297C
|Meta Mutation Damage Score||0.2004|
|Coding Region Coverage||
|Validation Efficiency||97% (64/66)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene interacts with microtubules and is functionally associated with beta-amyloid precursor protein transport and/or processing. The beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimer's disease. The encoded protein may be involved in regulating cell death. This gene has been found to be highly expressed in breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Appbp2||
(F):5'- TGCCTGATGGTTTCAATCCTGAACG -3'
(R):5'- CATGCAGTGTATTTGGCACGGTAAG -3'
(F):5'- cacacacacacacacacac -3'
(R):5'- CACGGTAAGTGATTGTTACTCAAGG -3'