Incidental Mutation 'R8759:Psmc5'
ID 671809
Institutional Source Beutler Lab
Gene Symbol Psmc5
Ensembl Gene ENSMUSG00000020708
Gene Name protease (prosome, macropain) 26S subunit, ATPase 5
Synonyms mSUG1, Rpt6
MMRRC Submission 068718-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R8759 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 106147011-106153938 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106153687 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 382 (D382G)
Ref Sequence ENSEMBL: ENSMUSP00000021049 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021049] [ENSMUST00000021052] [ENSMUST00000106843] [ENSMUST00000133131] [ENSMUST00000140255]
AlphaFold P62196
Predicted Effect probably benign
Transcript: ENSMUST00000021049
AA Change: D382G

PolyPhen 2 Score 0.404 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000021049
Gene: ENSMUSG00000020708
AA Change: D382G

DomainStartEndE-ValueType
low complexity region 57 69 N/A INTRINSIC
low complexity region 96 108 N/A INTRINSIC
AAA 182 321 6.96e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000021052
SMART Domains Protein: ENSMUSP00000021052
Gene: ENSMUSG00000078619

DomainStartEndE-ValueType
low complexity region 5 42 N/A INTRINSIC
low complexity region 44 58 N/A INTRINSIC
low complexity region 122 131 N/A INTRINSIC
Blast:KISc 136 287 2e-36 BLAST
SWIB 307 386 1.3e-21 SMART
Blast:MYSc 468 514 5e-11 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000106843
SMART Domains Protein: ENSMUSP00000102456
Gene: ENSMUSG00000078619

DomainStartEndE-ValueType
low complexity region 75 84 N/A INTRINSIC
Blast:KISc 89 240 1e-36 BLAST
SWIB 260 339 1.3e-21 SMART
Blast:MYSc 421 467 5e-11 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000133131
SMART Domains Protein: ENSMUSP00000138057
Gene: ENSMUSG00000020708

DomainStartEndE-ValueType
low complexity region 57 69 N/A INTRINSIC
low complexity region 96 108 N/A INTRINSIC
AAA 182 321 6.96e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000140255
SMART Domains Protein: ENSMUSP00000133629
Gene: ENSMUSG00000078619

DomainStartEndE-ValueType
SWIB 29 108 1.3e-21 SMART
Blast:MYSc 190 236 6e-12 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
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. In addition to participation in proteasome functions, this subunit may participate in transcriptional regulation since it has been shown to interact with the thyroid hormone receptor and retinoid X receptor-alpha. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
PHENOTYPE: Mice homozygous for a phospho-mimetic allele exhibit absence of cocaine locomotor activity sensitization. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022B05Rik T C 8: 125,365,916 (GRCm39) T276A probably benign Het
6030468B19Rik T C 11: 117,697,112 (GRCm39) V237A probably benign Het
Abca15 G A 7: 120,006,631 (GRCm39) V1632M probably damaging Het
Adamts18 G A 8: 114,433,624 (GRCm39) P1037S probably damaging Het
Apol7e T C 15: 77,602,065 (GRCm39) V221A probably benign Het
Aqp4 T G 18: 15,533,048 (GRCm39) H15P probably benign Het
Atp6v0d2 T A 4: 19,910,649 (GRCm39) R80S probably benign Het
Cdh15 A G 8: 123,587,628 (GRCm39) D184G probably damaging Het
Cers3 G A 7: 66,435,850 (GRCm39) V270M probably damaging Het
Ces3a A G 8: 105,784,129 (GRCm39) H443R probably damaging Het
Cntn1 T G 15: 92,153,801 (GRCm39) F485V possibly damaging Het
Cog6 A G 3: 52,897,465 (GRCm39) L536P probably damaging Het
Copa A G 1: 171,947,081 (GRCm39) I1068M probably benign Het
Ddx50 T C 10: 62,452,021 (GRCm39) D734G unknown Het
Dgkz T C 2: 91,775,922 (GRCm39) T114A probably benign Het
Dock2 A T 11: 34,586,067 (GRCm39) D538E probably benign Het
Drg1 T C 11: 3,204,633 (GRCm39) S198G probably benign Het
Epn3 C A 11: 94,386,848 (GRCm39) G174V possibly damaging Het
Ficd G T 5: 113,876,575 (GRCm39) R250L probably damaging Het
Fmo2 A G 1: 162,708,005 (GRCm39) S377P probably benign Het
Gm17027 T C 14: 41,981,251 (GRCm39) I202V Het
H6pd C T 4: 150,066,758 (GRCm39) V551I probably benign Het
Ighg1 A T 12: 113,292,657 (GRCm39) L304* probably null Het
Itga8 T C 2: 12,266,940 (GRCm39) D165G probably damaging Het
Lipt2 GGCGCCCGCGCGCG GGCG 7: 99,808,888 (GRCm39) probably null Het
Lrrc37a A G 11: 103,348,766 (GRCm39) V2643A unknown Het
Lyz3 T A 10: 117,070,340 (GRCm39) I146F probably damaging Het
Mast2 A T 4: 116,292,757 (GRCm39) F71Y possibly damaging Het
Mkrn1 C A 6: 39,376,344 (GRCm39) E421* probably null Het
Myo3a G T 2: 22,448,319 (GRCm39) K969N possibly damaging Het
Nr1d1 G C 11: 98,660,073 (GRCm39) R484G probably damaging Het
Nrg1 C A 8: 32,308,103 (GRCm39) A686S probably damaging Het
Or52e8 T C 7: 104,624,325 (GRCm39) N293S probably damaging Het
Plxna4 T A 6: 32,169,276 (GRCm39) D1307V probably damaging Het
Ppihl A T 5: 44,070,999 (GRCm39) N119I probably benign Het
Ppp1r13l G T 7: 19,103,981 (GRCm39) G154V probably damaging Het
Ptch2 T C 4: 116,967,630 (GRCm39) L766P probably damaging Het
Rev1 A C 1: 38,098,353 (GRCm39) L730R probably damaging Het
Rin3 G A 12: 102,339,861 (GRCm39) V684I probably damaging Het
Secisbp2 G A 13: 51,833,869 (GRCm39) V670I possibly damaging Het
Sema6d G A 2: 124,497,134 (GRCm39) C136Y probably damaging Het
Shprh T G 10: 11,032,908 (GRCm39) V298G possibly damaging Het
Slc37a4 C T 9: 44,313,632 (GRCm39) T386I probably benign Het
Slc4a3 T C 1: 75,531,282 (GRCm39) I825T probably damaging Het
Spta1 C T 1: 174,040,940 (GRCm39) L1247F probably damaging Het
Tigar A T 6: 127,068,220 (GRCm39) I66K probably benign Het
Tln2 T C 9: 67,274,500 (GRCm39) Y376C probably damaging Het
Tmem199 T A 11: 78,398,633 (GRCm39) probably benign Het
Tnc G A 4: 63,924,501 (GRCm39) R1066C possibly damaging Het
Ubqlnl T A 7: 103,799,206 (GRCm39) H97L probably damaging Het
Vmn1r13 A G 6: 57,187,524 (GRCm39) T228A probably damaging Het
Xab2 T C 8: 3,661,672 (GRCm39) T594A probably benign Het
Zc3h18 A G 8: 123,138,124 (GRCm39) E687G unknown Het
Zfp831 A G 2: 174,487,874 (GRCm39) T850A probably benign Het
Other mutations in Psmc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02234:Psmc5 APN 11 106,153,836 (GRCm39) missense probably benign 0.21
IGL02508:Psmc5 APN 11 106,153,869 (GRCm39) missense possibly damaging 0.54
Chomp UTSW 11 106,152,746 (GRCm39) nonsense probably null
R0398:Psmc5 UTSW 11 106,152,370 (GRCm39) missense probably benign 0.01
R0529:Psmc5 UTSW 11 106,151,990 (GRCm39) splice site probably null
R1642:Psmc5 UTSW 11 106,153,242 (GRCm39) missense probably benign 0.16
R5353:Psmc5 UTSW 11 106,152,327 (GRCm39) missense probably damaging 0.98
R6159:Psmc5 UTSW 11 106,152,088 (GRCm39) missense possibly damaging 0.82
R7647:Psmc5 UTSW 11 106,152,433 (GRCm39) missense possibly damaging 0.58
R7802:Psmc5 UTSW 11 106,152,538 (GRCm39) critical splice donor site probably null
R8757:Psmc5 UTSW 11 106,153,687 (GRCm39) missense probably benign 0.40
R8783:Psmc5 UTSW 11 106,153,858 (GRCm39) missense possibly damaging 0.94
R8872:Psmc5 UTSW 11 106,152,746 (GRCm39) nonsense probably null
R8992:Psmc5 UTSW 11 106,152,787 (GRCm39) missense probably damaging 1.00
R9427:Psmc5 UTSW 11 106,153,303 (GRCm39) missense probably damaging 1.00
X0027:Psmc5 UTSW 11 106,153,418 (GRCm39) missense probably benign 0.33
Predicted Primers PCR Primer
(F):5'- AAATTGCTGAGTTGATGCCGG -3'
(R):5'- TCCATAGCTTCTTGATGGACATG -3'

Sequencing Primer
(F):5'- AGTTGATGCCGGGAGCTTC -3'
(R):5'- GATGGACATGTTTTTCTCACTATCC -3'
Posted On 2021-04-30