|Institutional Source||Beutler Lab|
|Gene Name||amyloid beta (A4) precursor-like protein 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R8126 (G1)|
|Chromosomal Location||30434982-30445535 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 30441739 bp|
|Amino Acid Change||Aspartic acid to Valine at position 299 (D299V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000006828 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000006828]|
|Predicted Effect||probably damaging
AA Change: D299V
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: D299V
|Coding Region Coverage||
|Validation Efficiency||95% (42/44)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the highly conserved amyloid precursor protein gene family. The encoded protein is a membrane-associated glycoprotein that is cleaved by secretases in a manner similar to amyloid beta A4 precursor protein cleavage. This cleavage liberates an intracellular cytoplasmic fragment that may act as a transcriptional activator. The encoded protein may also play a role in synaptic maturation during cortical development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Animals homozygous for a mutation in this gene show a 10% decrease in body weight at 9 weeks of age. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Aplp1||
(F):5'- AGTAATCCATTGCCTGAGTGTG -3'
(R):5'- GCAAACACTGGTTAGGCCTG -3'
(F):5'- CTCAGGTCGAAGGATGCTTG -3'
(R):5'- TTAGGCCTGGGACCATGATGC -3'