|Institutional Source||Beutler Lab|
|Gene Name||proteasome (prosome, macropain) subunit, alpha type 2|
|Essential gene?||Possibly non essential (E-score: 0.460)|
|Stock #||R5069 (G1)|
|Chromosomal Location||14613240-14674236 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 14616028 bp (GRCm38)|
|Amino Acid Change||Valine to Isoleucine at position 20 (V20I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000129767 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000015816] [ENSMUST00000170836] [ENSMUST00000220621] [ENSMUST00000221168] [ENSMUST00000221699]|
Mouse constitutive 20S proteasome in complex with PR-957 [X-RAY DIFFRACTION]
Mouse constitutive 20S proteasome [X-RAY DIFFRACTION]
Mouse 20S immunoproteasome in complex with PR-957 [X-RAY DIFFRACTION]
Mouse 20S immunoproteasome [X-RAY DIFFRACTION]
AA Change: V20I
PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
AA Change: V20I
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Psma2||
(F):5'- GTAGTCTGGTAAGCTTAGCTTCC -3'
(R):5'- TAGCTGCAGGCATTACCCAG -3'
(F):5'- GTCTGGTAAGCTTAGCTTCCAAACAC -3'
(R):5'- ATTACTGTGCTGAATGCTACTTTC -3'