Incidental Mutation 'R1642:Psmc5'
ID 173624
Institutional Source Beutler Lab
Gene Symbol Psmc5
Ensembl Gene ENSMUSG00000020708
Gene Name protease (prosome, macropain) 26S subunit, ATPase 5
Synonyms mSUG1, Rpt6
MMRRC Submission 039678-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.971) question?
Stock # R1642 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 106147011-106153938 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106153242 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 295 (T295A)
Ref Sequence ENSEMBL: ENSMUSP00000138057 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021049] [ENSMUST00000021052] [ENSMUST00000106843] [ENSMUST00000133131] [ENSMUST00000140255]
AlphaFold P62196
Predicted Effect probably benign
Transcript: ENSMUST00000021049
AA Change: T295A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000021049
Gene: ENSMUSG00000020708
AA Change: T295A

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 noncoding transcript
Transcript: ENSMUST00000083228
Predicted Effect noncoding transcript
Transcript: ENSMUST00000106841
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 noncoding transcript
Transcript: ENSMUST00000132278
Predicted Effect probably benign
Transcript: ENSMUST00000133131
AA Change: T295A

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000138057
Gene: ENSMUSG00000020708
AA Change: T295A

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 noncoding transcript
Transcript: ENSMUST00000155514
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174017
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174253
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155243
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: 99.0%
  • 3x: 98.1%
  • 10x: 95.4%
  • 20x: 89.7%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik A G 10: 28,862,233 (GRCm39) V19A probably benign Het
6820408C15Rik T C 2: 152,282,774 (GRCm39) Y210H probably damaging Het
Aars1 T A 8: 111,769,882 (GRCm39) I327N possibly damaging Het
Abca6 T A 11: 110,109,107 (GRCm39) N688Y possibly damaging Het
Ablim3 T C 18: 61,947,382 (GRCm39) K457R probably benign Het
Acsm2 A T 7: 119,162,860 (GRCm39) N45Y probably damaging Het
Agxt2 T C 15: 10,373,917 (GRCm39) S108P probably damaging Het
Akr1cl A T 1: 65,060,588 (GRCm39) M174K probably benign Het
Armh4 T C 14: 50,005,867 (GRCm39) probably null Het
Bfsp1 G A 2: 143,683,683 (GRCm39) R214W probably damaging Het
Cby3 A G 11: 50,250,343 (GRCm39) D183G probably damaging Het
Clip2 T C 5: 134,532,107 (GRCm39) D566G possibly damaging Het
Colgalt1 A G 8: 72,073,401 (GRCm39) I341V probably benign Het
Cyp2c38 T A 19: 39,390,153 (GRCm39) D349V probably damaging Het
Cyp3a16 T A 5: 145,406,399 (GRCm39) I18F unknown Het
Degs2 C T 12: 108,658,451 (GRCm39) C176Y probably benign Het
Dhx16 A T 17: 36,201,957 (GRCm39) T995S probably damaging Het
Dicer1 A T 12: 104,679,415 (GRCm39) C521S probably damaging Het
Dop1b T C 16: 93,559,203 (GRCm39) S532P probably benign Het
Dpysl4 T G 7: 138,670,254 (GRCm39) M124R probably damaging Het
Eml6 A G 11: 29,727,001 (GRCm39) probably null Het
Erbb4 A T 1: 68,370,393 (GRCm39) V395D probably damaging Het
Esf1 T C 2: 140,000,406 (GRCm39) D460G possibly damaging Het
F830045P16Rik G A 2: 129,305,634 (GRCm39) H247Y probably benign Het
Fsbp T A 4: 11,583,965 (GRCm39) S221R probably benign Het
Fstl5 T A 3: 76,317,929 (GRCm39) N198K possibly damaging Het
Gemin5 G T 11: 58,029,906 (GRCm39) H855Q probably damaging Het
Gjd3 T C 11: 98,873,535 (GRCm39) E103G probably benign Het
I0C0044D17Rik A G 4: 98,708,471 (GRCm39) probably benign Het
Iqca1l C A 5: 24,757,686 (GRCm39) R177L probably damaging Het
Itgb4 A T 11: 115,898,183 (GRCm39) R1646W probably damaging Het
Klri2 A T 6: 129,715,837 (GRCm39) C121S probably benign Het
Lamc3 A G 2: 31,806,008 (GRCm39) Y703C probably damaging Het
Lrrc10 A G 10: 116,881,788 (GRCm39) N154S probably damaging Het
Lrriq1 A G 10: 103,050,317 (GRCm39) F812L probably benign Het
Naip2 C T 13: 100,298,489 (GRCm39) A516T possibly damaging Het
Nav1 T C 1: 135,380,010 (GRCm39) Y1564C probably damaging Het
Ndufc1 T C 3: 51,315,664 (GRCm39) T25A probably benign Het
Neurl4 A G 11: 69,794,485 (GRCm39) M23V probably benign Het
Nnt A G 13: 119,541,086 (GRCm39) probably null Het
Nolc1 G C 19: 46,067,461 (GRCm39) probably null Het
Nrg1 A T 8: 32,314,536 (GRCm39) M289K probably benign Het
Oas3 G T 5: 120,915,639 (GRCm39) H17Q possibly damaging Het
Or10h1 A G 17: 33,418,430 (GRCm39) Y132C probably damaging Het
Or2z2 A G 11: 58,346,664 (GRCm39) I37T probably benign Het
Or5m5 A G 2: 85,814,201 (GRCm39) K6E probably benign Het
Or8g36 C T 9: 39,422,650 (GRCm39) R122H possibly damaging Het
Parp9 T C 16: 35,788,067 (GRCm39) Y612H probably benign Het
Pcdh1 A T 18: 38,332,283 (GRCm39) M240K possibly damaging Het
Pcdhb9 A G 18: 37,533,987 (GRCm39) probably benign Het
Plpp2 A G 10: 79,366,518 (GRCm39) V42A probably damaging Het
Ppic C T 18: 53,540,134 (GRCm39) V172M probably damaging Het
Ppp1r9b A G 11: 94,892,150 (GRCm39) silent Het
Prop1 A G 11: 50,844,152 (GRCm39) V27A possibly damaging Het
Rpa1 A G 11: 75,203,517 (GRCm39) probably null Het
Rrp12 A G 19: 41,860,176 (GRCm39) F1016L probably damaging Het
Scn2a A T 2: 65,514,041 (GRCm39) I242F probably damaging Het
Slco1a6 T A 6: 142,032,160 (GRCm39) H655L probably benign Het
Sp140 G A 1: 85,538,545 (GRCm39) probably null Het
Syne1 A G 10: 5,298,694 (GRCm39) I1071T possibly damaging Het
Tbc1d9b A G 11: 50,040,659 (GRCm39) D392G probably damaging Het
Tcaim G A 9: 122,647,838 (GRCm39) probably null Het
Tgm3 T A 2: 129,889,702 (GRCm39) V632E probably damaging Het
Triobp C A 15: 78,886,348 (GRCm39) R1830S probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Vps8 A G 16: 21,400,329 (GRCm39) T1266A probably benign Het
Znfx1 T C 2: 166,880,930 (GRCm39) I285V possibly damaging 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
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
R8759: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'- GATTGACTCTATTGGCTCCTCACGG -3'
(R):5'- CGGCATCAACTCAGCAATTTTCCTC -3'

Sequencing Primer
(F):5'- ACAGTGAGGTACAGCGCAC -3'
(R):5'- TTTCAAAATGTCCAGCCGGG -3'
Posted On 2014-04-24