|Institutional Source||Beutler Lab|
|Gene Name||adaptor-related protein complex 3, delta 1 subunit|
|Essential gene?||Probably essential (E-score: 0.933)|
|Stock #||R8021 (G1)|
|Chromosomal Location||80706956-80742264 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 80714301 bp (GRCm38)|
|Amino Acid Change||Valine to Leucine at position 699 (V699L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000020420 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020420] [ENSMUST00000218610]|
AA Change: V699L
PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
AA Change: V699L
|Coding Region Coverage||
|Validation Efficiency||97% (74/76)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a subunit of the AP3 adaptor-like complex, which is not clathrin-associated, but is associated with the golgi region, as well as more peripheral structures. The AP-3 complex facilitates the budding of vesicles from the golgi membrane, and may be directly involved in trafficking to lysosomes. This subunit is implicated in intracellular biogenesis and trafficking of pigment granules, and possibly platelet dense granules and neurotransmitter vesicles. Defects in this gene are a cause of a new type of Hermansky-Pudlak syndrome. [provided by RefSeq, Feb 2017]
PHENOTYPE: Mutant mice show coat and eye color dilution, platelet defects, lysosomal abnormalities, inner ear degeneration and neurological defects and model Hermansky-Pudlak storage pool deficiency syndrome. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ap3d1||
(F):5'- CCTCCAGCTTCACATACTGG -3'
(R):5'- GCTTTAACCCTAACTGTAGCAAG -3'
(F):5'- CATACTGGTCTGACATGGGCATAC -3'
(R):5'- AGCAAGGTTACAGTTAGCTCCTGC -3'