|Institutional Source||Beutler Lab|
|Gene Name||adaptor-related protein complex 3, beta 2 subunit|
|Is this an essential gene?||Probably non essential (E-score: 0.110)|
|Stock #||R8355 (G1)|
|Chromosomal Location||81460399-81493925 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 81473103 bp|
|Amino Acid Change||Valine to Glutamic Acid at position 462 (V462E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000080739 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000082090] [ENSMUST00000152355]|
|Predicted Effect||probably damaging
AA Change: V462E
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: V462E
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||98% (48/49)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Adaptor protein complex 3 (AP-3 complex) is a heterotrimeric protein complex involved in the formation of clathrin-coated synaptic vesicles. The protein encoded by this gene represents the beta subunit of the neuron-specific AP-3 complex and was first identified as the target antigen in human paraneoplastic neurologic disorders. The encoded subunit binds clathrin and is phosphorylated by a casein kinase-like protein, which mediates synaptic vesicle coat assembly. Defects in this gene are a cause of early-onset epileptic encephalopathy. [provided by RefSeq, Feb 2017]
PHENOTYPE: Disruption does not alter pigmentation, but causes hyperactivity and tonic-clonic seizures and mice homozygous for a knock-out allele were found to have significantly reduced synaptic zinc levels throughout the brain, with the largest reduction observed in the CA1 stratum oriens. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ap3b2||
(F):5'- ACAGGTTCTTAAAGTCATGGGG -3'
(R):5'- CCCCTTGTGTATCTAGGTAGAATG -3'
(F):5'- CAGATCTCTGTGAGTTCAAGTCCAG -3'
(R):5'- AGAATGTGTGTCTGTTGGCTATC -3'