|Institutional Source||Beutler Lab|
|Gene Name||adaptor-related protein complex 3, beta 1 subunit|
|Synonyms||recombination induced mutation 2, rim2, Hps2, beta3A, AP-3|
|Is this an essential gene?||Possibly essential (E-score: 0.628)|
|Stock #||R4626 (G1)|
|Chromosomal Location||94358960-94566317 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 94404078 bp|
|Amino Acid Change||Asparagine to Lysine at position 169 (N169K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022196 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022196]|
|Predicted Effect||possibly damaging
AA Change: N169K
PolyPhen 2 Score 0.512 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: N169K
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]
PHENOTYPE: Homozygous mutants exhibit hypopigmentation, elevated kidney levels of lysosomal enzymes, platelet storage pool deficiency, reduced ipsilateral projections from the retina to brain, reduced sensitivity of dark-adapted retina and shortened life span. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ap3b1||
(F):5'- ATGCAGGTGTCTCTGGAAATG -3'
(R):5'- CCTGGGAGATCTGCTCTTTTAC -3'
(F):5'- TGCAGGTGTCTCTGGAAATGTAAAC -3'
(R):5'- GGGAGATCTGCTCTTTTACTTAAAG -3'