Incidental Mutation 'IGL02604:Psmc2'
ID 300212
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 # IGL02604
Quality Score
Status
Chromosome 5
Chromosomal Location 21990281-22008785 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 22000098 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000030769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030769] [ENSMUST00000030769]
AlphaFold P46471
Predicted Effect probably null
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 probably null
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik T C 17: 35,878,845 (GRCm39) V61A probably benign Het
Arfgef1 G A 1: 10,251,275 (GRCm39) probably benign Het
Arhgef4 T A 1: 34,850,804 (GRCm39) L594* probably null Het
Cacna2d3 T C 14: 29,015,066 (GRCm39) T375A possibly damaging Het
Calb2 A C 8: 110,875,160 (GRCm39) Y155D probably damaging Het
Camkmt A G 17: 85,404,053 (GRCm39) T92A possibly damaging Het
Cfap91 A G 16: 38,141,921 (GRCm39) probably benign Het
Chsy3 A G 18: 59,542,187 (GRCm39) S442G probably benign Het
Cyp4f13 T C 17: 33,151,395 (GRCm39) I173V probably benign Het
Dapk1 A G 13: 60,896,134 (GRCm39) T741A probably benign Het
Dennd3 T C 15: 73,428,252 (GRCm39) I866T probably damaging Het
Dhrs2 A T 14: 55,474,778 (GRCm39) I138F possibly damaging Het
Dscaml1 C T 9: 45,655,626 (GRCm39) probably benign Het
Fsbp A G 4: 11,584,147 (GRCm39) E282G probably damaging Het
Hpgds A T 6: 65,100,594 (GRCm39) L128Q probably damaging Het
Hspa9 A G 18: 35,087,266 (GRCm39) V13A unknown Het
Itgb3 A G 11: 104,553,269 (GRCm39) E709G probably damaging Het
Jarid2 T C 13: 45,027,877 (GRCm39) S148P probably damaging Het
Kcna6 C T 6: 126,716,167 (GRCm39) G241R probably benign Het
Kdm5a T A 6: 120,408,941 (GRCm39) N1541K probably benign Het
Kel C A 6: 41,664,516 (GRCm39) E640D probably damaging Het
Lcp1 A T 14: 75,461,566 (GRCm39) I520F probably benign Het
Lgr4 A G 2: 109,841,658 (GRCm39) I524V probably damaging Het
Mup20 A C 4: 61,970,141 (GRCm39) Y139D probably damaging Het
Notch4 T C 17: 34,784,362 (GRCm39) probably null Het
Obox7 A G 7: 14,399,293 (GRCm39) E173G probably benign Het
Or10a49 T A 7: 108,467,857 (GRCm39) Y168F probably benign Het
Or2a25 T A 6: 42,888,992 (GRCm39) C178* probably null Het
Or5w22 A T 2: 87,362,949 (GRCm39) T191S probably damaging Het
Or8b40 C T 9: 38,027,148 (GRCm39) Q19* probably null Het
Or9i1 T A 19: 13,839,170 (GRCm39) N4K probably benign Het
Patl2 T G 2: 121,955,814 (GRCm39) T241P possibly damaging Het
Pip5k1c C A 10: 81,153,155 (GRCm39) probably null Het
Plekhg6 T C 6: 125,354,342 (GRCm39) probably benign Het
Pon1 C A 6: 5,168,375 (GRCm39) G344V probably damaging Het
Ppp1r21 G T 17: 88,880,171 (GRCm39) K529N probably benign Het
Prdm15 A G 16: 97,623,142 (GRCm39) S203P probably benign Het
Ptn T C 6: 36,692,653 (GRCm39) M166V unknown Het
Ptpn13 A G 5: 103,649,769 (GRCm39) N391D probably benign Het
Rnf214 A G 9: 45,780,841 (GRCm39) S383P probably damaging Het
Rufy4 T A 1: 74,173,348 (GRCm39) L438H probably damaging Het
Scarf2 A G 16: 17,621,608 (GRCm39) T353A probably damaging Het
Serpinb9e A C 13: 33,441,742 (GRCm39) I225L probably benign Het
Slc25a40 T C 5: 8,503,219 (GRCm39) V312A probably benign Het
Tmc3 A G 7: 83,271,827 (GRCm39) Y993C possibly damaging Het
Trim56 A C 5: 137,141,930 (GRCm39) C529G probably damaging Het
Trim8 T C 19: 46,503,917 (GRCm39) S490P probably damaging Het
Trmt6 A T 2: 132,652,357 (GRCm39) Y147* probably null Het
Vmn2r109 T A 17: 20,760,963 (GRCm39) H798L probably damaging Het
Vps35 A G 8: 86,013,018 (GRCm39) L153P probably damaging Het
Wdr82 T C 9: 106,060,880 (GRCm39) I131T probably damaging Het
Zfp69 A T 4: 120,788,660 (GRCm39) D218E probably benign Het
Other mutations in Psmc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01024:Psmc2 APN 5 22,006,196 (GRCm39) splice site probably benign
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
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 2015-04-16