Incidental Mutation 'R7962:Psmc3'
ID 650147
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7962 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 90884361-90889783 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 90887007 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 202 (V202E)
Ref Sequence ENSEMBL: ENSMUSP00000002171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002171] [ENSMUST00000067663] [ENSMUST00000111441] [ENSMUST00000185715]
AlphaFold O88685
Predicted Effect possibly damaging
Transcript: ENSMUST00000002171
AA Change: V202E

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000002171
Gene: ENSMUSG00000002102
AA Change: V202E

DomainStartEndE-ValueType
AAA 222 361 6.65e-22 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000067663
AA Change: V202E

PolyPhen 2 Score 0.677 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000071054
Gene: ENSMUSG00000002102
AA Change: V202E

DomainStartEndE-ValueType
AAA 222 361 6.65e-22 SMART
Blast:AAA 390 436 9e-20 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000111441
AA Change: V160E

PolyPhen 2 Score 0.501 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000107068
Gene: ENSMUSG00000002102
AA Change: V160E

DomainStartEndE-ValueType
AAA 180 319 6.65e-22 SMART
Blast:AAA 348 394 8e-20 BLAST
Predicted Effect silent
Transcript: ENSMUST00000146506
SMART Domains Protein: ENSMUSP00000121688
Gene: ENSMUSG00000002102

DomainStartEndE-ValueType
PDB:4CR4|M 13 183 2e-69 PDB
Blast:AAA 140 183 1e-20 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000185715
AA Change: V183E

PolyPhen 2 Score 0.677 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000139782
Gene: ENSMUSG00000002102
AA Change: V183E

DomainStartEndE-ValueType
AAA 203 301 9e-14 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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 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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 A G 10: 14,296,428 (GRCm39) F991L probably damaging Het
Ahnak A G 19: 8,990,164 (GRCm39) D3816G unknown Het
Arhgdig T C 17: 26,418,608 (GRCm39) T153A probably damaging Het
Ash2l T C 8: 26,329,792 (GRCm39) D122G probably damaging Het
Bora A G 14: 99,310,162 (GRCm39) K497R probably benign Het
Btbd9 T C 17: 30,736,177 (GRCm39) H312R probably damaging Het
Cbr2 T C 11: 120,620,609 (GRCm39) D225G probably benign Het
Cemip C A 7: 83,652,616 (GRCm39) probably benign Het
Cfap70 G A 14: 20,486,854 (GRCm39) T275M probably benign Het
Clca4b T C 3: 144,622,421 (GRCm39) D548G possibly damaging Het
Ctsf T G 19: 4,906,567 (GRCm39) F165V probably damaging Het
Cyp3a44 T A 5: 145,738,135 (GRCm39) I57L probably benign Het
Dbx2 C T 15: 95,552,199 (GRCm39) G149S probably benign Het
Dennd2a A G 6: 39,457,207 (GRCm39) V745A possibly damaging Het
Dock10 A T 1: 80,564,085 (GRCm39) S509R possibly damaging Het
Enpp3 T C 10: 24,660,752 (GRCm39) Y630C probably damaging Het
Eomes C T 9: 118,307,574 (GRCm39) probably benign Het
Fchsd1 A T 18: 38,097,212 (GRCm39) V385E probably damaging Het
Flg A T 3: 93,193,984 (GRCm39) H34L unknown Het
Frs3 G T 17: 48,010,463 (GRCm39) E32D possibly damaging Het
Gm14443 C T 2: 175,012,035 (GRCm39) C137Y probably benign Het
H3c13 C A 3: 96,176,309 (GRCm39) Y100* probably null Het
Havcr1 T A 11: 46,643,402 (GRCm39) C107* probably null Het
Hectd4 C T 5: 121,448,692 (GRCm39) R347W probably damaging Het
Hspbp1 A G 7: 4,684,841 (GRCm39) probably null Het
Irs1 C T 1: 82,266,443 (GRCm39) R591H possibly damaging Het
Kif5b A G 18: 6,241,040 (GRCm39) V23A probably benign Het
Myo1e A T 9: 70,242,501 (GRCm39) I339F possibly damaging Het
Nkx2-5 T C 17: 27,058,150 (GRCm39) Y268C probably damaging Het
Or7g12 T C 9: 18,899,952 (GRCm39) S223P probably damaging Het
Polrmt T C 10: 79,574,623 (GRCm39) M857V probably damaging Het
Prkd3 T A 17: 79,315,691 (GRCm39) M1L not run Het
Prss3b A C 6: 41,012,387 (GRCm39) F9C probably benign Het
Rab3d G A 9: 21,826,229 (GRCm39) R93C probably damaging Het
Rasgrf2 A C 13: 92,167,300 (GRCm39) Y258D probably damaging Het
Rassf8 G A 6: 145,761,669 (GRCm39) probably null Het
Rcbtb1 A C 14: 59,459,016 (GRCm39) S199R probably benign Het
Rif1 T G 2: 51,964,288 (GRCm39) V45G probably damaging Het
Riok3 G A 18: 12,269,776 (GRCm39) G69E probably benign Het
Scn1a A G 2: 66,158,786 (GRCm39) L378P probably damaging Het
Sil1 A T 18: 35,481,719 (GRCm39) N113K probably benign Het
Slc35c2 C T 2: 165,119,462 (GRCm39) D293N probably damaging Het
Slc37a3 A T 6: 39,324,325 (GRCm39) S308T possibly damaging Het
Smarca5 A T 8: 81,463,388 (GRCm39) V60E probably benign Het
Smok3c T A 5: 138,063,341 (GRCm39) V276D probably damaging Het
Snx29 G A 16: 11,231,221 (GRCm39) probably null Het
Spata24 T C 18: 35,795,093 (GRCm39) E30G probably damaging Het
Stard13 T A 5: 150,975,838 (GRCm39) I777F probably damaging Het
Synpo2 A G 3: 123,029,635 (GRCm39) C8R probably benign Het
Tmem104 T C 11: 115,134,307 (GRCm39) V281A probably damaging Het
Tmprss11a C T 5: 86,567,879 (GRCm39) G283R probably damaging Het
Trpc2 G A 7: 101,738,388 (GRCm39) V457M probably benign Het
Usp53 A T 3: 122,728,000 (GRCm39) S861T possibly damaging Het
Uty G T Y: 1,154,210 (GRCm39) S738* probably null Het
Wdr17 C T 8: 55,113,806 (GRCm39) probably null Het
Wdr7 A T 18: 64,037,157 (GRCm39) S1194C probably damaging Het
Zyx A C 6: 42,333,505 (GRCm39) D477A 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
R6224:Psmc3 UTSW 2 90,884,975 (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
Predicted Primers PCR Primer
(F):5'- TGATACATGGTCCCTGGCTG -3'
(R):5'- AAGCCTATGTCATACAGCTGCAAG -3'

Sequencing Primer
(F):5'- GAACTTAGGTCTTCATGCTTGCACAG -3'
(R):5'- TATGTCATACAGCTGCAAGTACCC -3'
Posted On 2020-09-15