|Institutional Source||Beutler Lab|
|Gene Name||adaptor-related protein complex 3, beta 2 subunit|
|Is this an essential gene?||Probably non essential (E-score: 0.121)|
|Stock #||R7501 (G1)|
|Chromosomal Location||81460399-81493925 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 81473446 bp|
|Amino Acid Change||Isoleucine to Lysine at position 440 (I440K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000080739 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000082090] [ENSMUST00000152355]|
|Predicted Effect||probably damaging
AA Change: I440K
PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
AA Change: I440K
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||100% (61/61)|
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'- CAGCTCAGTTACAGCAATACCTG -3'
(R):5'- GGCATGATGAGTTGTCATACGG -3'
(F):5'- TGCACACTAACTGAAGCAGATAG -3'
(R):5'- ATGATGAGTTGTCATACGGAGGTTTG -3'