Incidental Mutation 'IGL01024:Psmc2'
ID 53602
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psmc2
Ensembl Gene ENSMUSG00000028932
Gene Name proteasome (prosome, macropain) 26S subunit, ATPase 2
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01024
Quality Score
Status
Chromosome 5
Chromosomal Location 21990281-22008785 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 22006196 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000030769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030769]
AlphaFold P46471
Predicted Effect probably benign
Transcript: ENSMUST00000030769
SMART Domains Protein: ENSMUSP00000030769
Gene: ENSMUSG00000028932

DomainStartEndE-ValueType
low complexity region 114 125 N/A INTRINSIC
AAA 250 389 2.74e-23 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132720
Coding Region Coverage
Validation Efficiency
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
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik T C 19: 3,767,040 (GRCm39) V209A probably benign Het
Abca6 T A 11: 110,087,968 (GRCm39) Y1053F probably benign Het
Acot12 C T 13: 91,929,330 (GRCm39) Q386* probably null Het
Adamts16 A G 13: 70,943,603 (GRCm39) V336A probably benign Het
Ankrd49 A G 9: 14,694,099 (GRCm39) F23L probably damaging Het
Aspm A T 1: 139,405,862 (GRCm39) H1583L possibly damaging Het
Atp6v0a1 A G 11: 100,939,265 (GRCm39) I677V probably benign Het
Brinp1 A T 4: 68,680,731 (GRCm39) W600R probably damaging Het
Ccdc185 T C 1: 182,574,988 (GRCm39) E567G possibly damaging Het
Clip2 T C 5: 134,539,066 (GRCm39) D445G probably damaging Het
Elp5 T C 11: 69,859,248 (GRCm39) probably benign Het
Gm9376 A G 14: 118,504,570 (GRCm39) M1V probably null Het
Gtf2a1l A G 17: 88,978,719 (GRCm39) K40R probably damaging Het
Hdc A G 2: 126,445,766 (GRCm39) V246A probably benign Het
Hectd2 T A 19: 36,583,793 (GRCm39) F479L probably damaging Het
Hipk1 G T 3: 103,667,952 (GRCm39) N538K probably benign Het
Kif27 T A 13: 58,436,015 (GRCm39) E1259D possibly damaging Het
Klhdc2 T A 12: 69,352,610 (GRCm39) N256K probably benign Het
Krt71 C T 15: 101,645,109 (GRCm39) A401T probably damaging Het
Mapk3 A T 7: 126,363,946 (GRCm39) K312* probably null Het
Med12l G T 3: 58,980,762 (GRCm39) S365I probably damaging Het
Mgam A G 6: 40,619,944 (GRCm39) K11R probably benign Het
Nox3 A T 17: 3,733,290 (GRCm39) I187N probably damaging Het
Nudcd1 T A 15: 44,284,222 (GRCm39) M55L probably benign Het
Or1a1b A T 11: 74,097,481 (GRCm39) L187Q probably damaging Het
Or4f59 A T 2: 111,872,716 (GRCm39) F220L probably benign Het
Or8b57 A G 9: 40,004,029 (GRCm39) S78P probably damaging Het
Pard6g T C 18: 80,123,037 (GRCm39) probably benign Het
Pbrm1 G A 14: 30,774,217 (GRCm39) R461H probably damaging Het
Ppm1f C A 16: 16,741,633 (GRCm39) T369K probably benign Het
Ppp1r16b C T 2: 158,582,736 (GRCm39) probably benign Het
Pramel29 A T 4: 143,935,045 (GRCm39) I232K possibly damaging Het
Prom2 T C 2: 127,383,059 (GRCm39) N61S probably benign Het
Psme2 A G 14: 55,825,893 (GRCm39) probably benign Het
Ptprc T C 1: 138,008,650 (GRCm39) H655R probably damaging Het
Pxdn A C 12: 30,037,098 (GRCm39) N292T probably damaging Het
Rapgef2 T C 3: 78,977,445 (GRCm39) I1301V probably benign Het
Rnase11 T C 14: 51,287,321 (GRCm39) I78V probably benign Het
Rpl41 A G 10: 128,384,246 (GRCm39) probably benign Het
Sgf29 G A 7: 126,264,103 (GRCm39) R56Q possibly damaging Het
Sis A G 3: 72,819,209 (GRCm39) L1449S probably damaging Het
Slc34a2 T A 5: 53,224,972 (GRCm39) V371D possibly damaging Het
Son C A 16: 91,452,798 (GRCm39) T515K probably damaging Het
Tbx15 A T 3: 99,223,562 (GRCm39) D250V probably damaging Het
Thoc2l T G 5: 104,669,612 (GRCm39) V1378G probably benign Het
Tmem171 T A 13: 98,823,026 (GRCm39) probably null Het
Ugt2b36 C T 5: 87,228,728 (GRCm39) probably null Het
Vill G A 9: 118,899,418 (GRCm39) probably null Het
Vmn2r22 A G 6: 123,615,012 (GRCm39) F193L probably damaging Het
Vmn2r95 C T 17: 18,672,590 (GRCm39) probably benign Het
Vstm2a T A 11: 16,231,874 (GRCm39) V223D possibly damaging Het
Other mutations in Psmc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01324:Psmc2 APN 5 22,005,007 (GRCm39) critical splice donor site probably null
IGL01354:Psmc2 APN 5 22,000,834 (GRCm39) missense possibly damaging 0.51
IGL02604:Psmc2 APN 5 22,000,098 (GRCm39) splice site probably null
R1656:Psmc2 UTSW 5 22,004,549 (GRCm39) missense possibly damaging 0.77
R2154:Psmc2 UTSW 5 22,008,127 (GRCm39) missense possibly damaging 0.94
R4684:Psmc2 UTSW 5 22,008,263 (GRCm39) missense possibly damaging 0.94
R5012:Psmc2 UTSW 5 22,007,563 (GRCm39) missense probably benign 0.09
R6736:Psmc2 UTSW 5 22,005,574 (GRCm39) missense probably damaging 0.99
R6989:Psmc2 UTSW 5 22,006,217 (GRCm39) missense possibly damaging 0.91
R7681:Psmc2 UTSW 5 22,008,272 (GRCm39) critical splice donor site probably null
R8120:Psmc2 UTSW 5 22,005,566 (GRCm39) missense probably damaging 1.00
R8752:Psmc2 UTSW 5 22,001,533 (GRCm39) missense probably benign 0.00
R8823:Psmc2 UTSW 5 22,005,574 (GRCm39) missense probably damaging 0.99
R9798:Psmc2 UTSW 5 22,000,806 (GRCm39) missense probably benign 0.01
Z1176:Psmc2 UTSW 5 22,006,315 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-28