|Institutional Source||Beutler Lab|
|Gene Name||proteasome (prosome, macropain) 26S subunit, ATPase 2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6736 (G1)|
|Chromosomal Location||21785283-21803787 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 21800576 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 218 (D218E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030769 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030769]|
|Predicted Effect||probably damaging
AA Change: D218E
PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: D218E
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core 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. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase 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 one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. This subunit has been shown to interact with several of the basal transcription factors so, in addition to participation in proteasome functions, this subunit may participate in the regulation of transcription. This subunit may also compete with PSMC3 for binding to the HIV tat protein to regulate the interaction between the viral protein and the transcription complex. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2011]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Psmc2||
(F):5'- TAGGACACCGCAATTAATCTCC -3'
(R):5'- TGCTTGCTCCCATCTGAAAC -3'
(F):5'- ACCGCAATTAATCTCCTAACTTATAC -3'
(R):5'- ACCACCGCCGTGTCATAAG -3'