|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 non essential (E-score: 0.341)|
|Stock #||R0265 (G1)|
|Chromosomal Location||94358960-94566317 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 94493681 bp|
|Amino Acid Change||Lysine to Glutamic Acid at position 815 (K815E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022196 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022196]|
AA Change: K815E
AA Change: K815E
AA Change: K180E
|Meta Mutation Damage Score||0.0741|
|Coding Region Coverage||
|Validation Efficiency||99% (83/84)|
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'- CAGTGCCTCTCACAGACTGACATC -3'
(R):5'- ATGCTTCTACTTGGGAAACCTACGC -3'
(F):5'- ACCTGTCTAGCAGTTATCTCGAAG -3'
(R):5'- TTGGGAAACCTACGCGAGAAG -3'