Incidental Mutation 'R6224:Psmc3'
ID 504178
Institutional Source Beutler Lab
Gene Symbol Psmc3
Ensembl Gene ENSMUSG00000002102
Gene Name proteasome (prosome, macropain) 26S subunit, ATPase 3
Synonyms Tat binding protein 1, TBP-1
MMRRC Submission 044355-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6224 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 90884361-90889783 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 90884975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 47 (R47L)
Ref Sequence ENSEMBL: ENSMUSP00000107068 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002171] [ENSMUST00000067663] [ENSMUST00000111441] [ENSMUST00000185715]
AlphaFold O88685
Predicted Effect probably benign
Transcript: ENSMUST00000002171
AA Change: R47L

PolyPhen 2 Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000002171
Gene: ENSMUSG00000002102
AA Change: R47L

DomainStartEndE-ValueType
AAA 222 361 6.65e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000067663
AA Change: R47L

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000071054
Gene: ENSMUSG00000002102
AA Change: R47L

DomainStartEndE-ValueType
AAA 222 361 6.65e-22 SMART
Blast:AAA 390 436 9e-20 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000111441
AA Change: R47L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107068
Gene: ENSMUSG00000002102
AA Change: R47L

DomainStartEndE-ValueType
AAA 180 319 6.65e-22 SMART
Blast:AAA 348 394 8e-20 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131473
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141462
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144822
Predicted Effect probably benign
Transcript: ENSMUST00000185715
AA Change: R28L

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000139782
Gene: ENSMUSG00000002102
AA Change: R28L

DomainStartEndE-ValueType
AAA 203 301 9e-14 SMART
Predicted Effect unknown
Transcript: ENSMUST00000146506
AA Change: R29L
SMART Domains Protein: ENSMUSP00000121688
Gene: ENSMUSG00000002102
AA Change: R29L

DomainStartEndE-ValueType
PDB:4CR4|M 13 183 2e-69 PDB
Blast:AAA 140 183 1e-20 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146633
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152269
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145317
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151419
Meta Mutation Damage Score 0.4795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 100% (55/55)
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 that have chaperone-like activity. This subunit may compete with PSMC2 for binding to the HIV tat protein to regulate the interaction between the viral protein and the transcription complex. A pseudogene has been identified on chromosome 9. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300003K06Rik A C 11: 99,728,840 (GRCm39) M1R probably null Het
4930505A04Rik A C 11: 30,404,815 (GRCm39) N29K probably benign Het
Adamtsl4 T C 3: 95,589,039 (GRCm39) Y464C probably damaging Het
Asgr2 T C 11: 69,989,072 (GRCm39) V172A probably damaging Het
Atad1 T C 19: 32,676,028 (GRCm39) Y132C probably damaging Het
Bpifa6 G A 2: 153,829,073 (GRCm39) R200H probably damaging Het
Brd1 A T 15: 88,572,558 (GRCm39) M1171K possibly damaging Het
Cadm2 A T 16: 66,461,281 (GRCm39) L392Q probably damaging Het
Ccdc183 C T 2: 25,500,594 (GRCm39) E333K possibly damaging Het
Cenpe T C 3: 134,949,536 (GRCm39) I1335T possibly damaging Het
Cpxm2 T C 7: 131,745,460 (GRCm39) N122D probably benign Het
Crls1 T A 2: 132,691,770 (GRCm39) probably null Het
Cyp46a1 T C 12: 108,327,819 (GRCm39) F460S probably damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dcps T A 9: 35,047,777 (GRCm39) T128S probably benign Het
Dcun1d3 A T 7: 119,458,714 (GRCm39) L107* probably null Het
Eml1 T C 12: 108,480,767 (GRCm39) F397S probably damaging Het
Fanca T A 8: 124,032,020 (GRCm39) H348L possibly damaging Het
Foxo1 T A 3: 52,253,093 (GRCm39) S419T probably benign Het
Gli3 T C 13: 15,899,730 (GRCm39) V1039A probably benign Het
Gng14 A T 8: 85,794,220 (GRCm39) *73R probably null Het
Gp6 A T 7: 4,397,211 (GRCm39) F75I probably benign Het
Gpha2 T A 19: 6,277,142 (GRCm39) I81N possibly damaging Het
Gspt1 C A 16: 11,042,406 (GRCm39) V493L probably benign Het
Igsf10 C A 3: 59,232,931 (GRCm39) C1934F probably damaging Het
Irgm1 T C 11: 48,757,713 (GRCm39) T49A probably benign Het
Klc4 A G 17: 46,950,988 (GRCm39) I207T possibly damaging Het
Krt1 A T 15: 101,758,702 (GRCm39) V154D possibly damaging Het
Lama1 T C 17: 68,109,982 (GRCm39) V2201A possibly damaging Het
Lilrb4a T A 10: 51,367,745 (GRCm39) Y96N probably damaging Het
Lrfn2 A G 17: 49,403,379 (GRCm39) T501A probably damaging Het
Lrriq1 A G 10: 103,051,618 (GRCm39) I378T probably damaging Het
Mphosph8 T C 14: 56,905,810 (GRCm39) M1T probably null Het
Nsd1 T C 13: 55,460,945 (GRCm39) S2391P possibly damaging Het
Ogdhl G A 14: 32,064,018 (GRCm39) G647D probably benign Het
Or5p57 T C 7: 107,665,949 (GRCm39) I19V probably benign Het
Or6c76b A G 10: 129,693,061 (GRCm39) K225E probably benign Het
Pbrm1 T A 14: 30,772,068 (GRCm39) H387Q probably benign Het
Pdgfrb C A 18: 61,215,011 (GRCm39) Y1013* probably null Het
Pitrm1 T C 13: 6,615,090 (GRCm39) V562A probably damaging Het
Pnpla8 T C 12: 44,329,811 (GRCm39) V121A possibly damaging Het
Psd4 T C 2: 24,291,569 (GRCm39) L639P probably damaging Het
Rptn C G 3: 93,305,437 (GRCm39) H923Q possibly damaging Het
Sesn2 A G 4: 132,229,881 (GRCm39) V50A probably benign Het
Skic3 C T 13: 76,266,410 (GRCm39) T219M probably benign Het
Slc6a16 G A 7: 44,910,572 (GRCm39) G377S probably damaging Het
Slitrk1 A G 14: 109,149,454 (GRCm39) F419S probably damaging Het
Slitrk5 GACTAC GACTACTAC 14: 111,917,248 (GRCm39) probably benign Het
Spata31d1a T A 13: 59,854,134 (GRCm39) probably benign Homo
Tgoln1 A T 6: 72,592,984 (GRCm39) D165E possibly damaging Het
Tmprss15 T A 16: 78,821,266 (GRCm39) T492S probably benign Het
Zc3h13 T A 14: 75,574,849 (GRCm39) M1565K probably damaging Het
Zcwpw1 T C 5: 137,810,298 (GRCm39) V358A possibly damaging Het
Zfp607a A G 7: 27,578,007 (GRCm39) H359R probably damaging Het
Zzef1 T A 11: 72,746,209 (GRCm39) V837E probably damaging Het
Other mutations in Psmc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
E0370:Psmc3 UTSW 2 90,885,463 (GRCm39) splice site probably null
R0747:Psmc3 UTSW 2 90,884,645 (GRCm39) missense probably benign 0.10
R1182:Psmc3 UTSW 2 90,886,380 (GRCm39) missense probably damaging 1.00
R1763:Psmc3 UTSW 2 90,886,340 (GRCm39) missense possibly damaging 0.81
R1967:Psmc3 UTSW 2 90,888,189 (GRCm39) missense probably benign 0.19
R2056:Psmc3 UTSW 2 90,888,433 (GRCm39) missense probably benign 0.40
R2484:Psmc3 UTSW 2 90,886,346 (GRCm39) missense probably damaging 0.97
R3411:Psmc3 UTSW 2 90,886,263 (GRCm39) missense probably damaging 1.00
R3608:Psmc3 UTSW 2 90,884,925 (GRCm39) missense probably benign 0.00
R4917:Psmc3 UTSW 2 90,896,317 (GRCm39) unclassified probably benign
R4954:Psmc3 UTSW 2 90,885,974 (GRCm39) intron probably benign
R5033:Psmc3 UTSW 2 90,884,953 (GRCm39) missense probably benign 0.03
R5073:Psmc3 UTSW 2 90,884,915 (GRCm39) splice site probably benign
R5279:Psmc3 UTSW 2 90,884,667 (GRCm39) missense probably benign
R5354:Psmc3 UTSW 2 90,889,698 (GRCm39) missense probably damaging 1.00
R6169:Psmc3 UTSW 2 90,888,184 (GRCm39) missense probably damaging 1.00
R7039:Psmc3 UTSW 2 90,885,391 (GRCm39) missense probably benign 0.32
R7275:Psmc3 UTSW 2 90,886,275 (GRCm39) missense probably damaging 0.97
R7962:Psmc3 UTSW 2 90,887,007 (GRCm39) missense possibly damaging 0.80
Predicted Primers PCR Primer
(F):5'- CAGAGCTTCTTGGGTTGTCC -3'
(R):5'- TACATGTCCAAACTGCAGAGGTC -3'

Sequencing Primer
(F):5'- GGGTTGTCCCGACTTCATC -3'
(R):5'- CCAGTGGGAAAACCTCCTG -3'
Posted On 2018-02-28