|Institutional Source||Beutler Lab|
|Gene Name||proteasome (prosome, macropain) subunit, alpha type 5|
|Is this an essential gene?||Probably essential (E-score: 0.946)|
|Stock #||R6218 (G1)|
|Chromosomal Location||108256926-108279974 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 108279802 bp (GRCm38)|
|Amino Acid Change||Lysine to Arginine at position 239 (K239R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000088057 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000090569] [ENSMUST00000102632] [ENSMUST00000135636]|
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: K239R
PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
AA Change: K239R
|Meta Mutation Damage Score||0.0700|
|Coding Region Coverage||
|Validation Efficiency||100% (65/65)|
|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. Multiple alternatively spliced transcript variants encoding two distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2010]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Psma5||
(F):5'- GGACAGCAGATCCCTTAGTTC -3'
(R):5'- TCATGCTCACAGGAAAGGTATG -3'
(F):5'- TAGTTCCTAATAAACAGCTGCCTC -3'
(R):5'- GGGCATTAATTACTATCATCTTTGCC -3'