Incidental Mutation 'R8304:Psmb3'
ID 639401
Institutional Source Beutler Lab
Gene Symbol Psmb3
Ensembl Gene ENSMUSG00000069744
Gene Name proteasome (prosome, macropain) subunit, beta type 3
Synonyms C10-II
MMRRC Submission 067791-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.951) question?
Stock # R8304 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 97594260-97604326 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 97601995 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 122 (C122S)
Ref Sequence ENSEMBL: ENSMUSP00000099436 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018691] [ENSMUST00000103147]
AlphaFold Q9R1P1
PDB Structure Mouse constitutive 20S proteasome in complex with PR-957 [X-RAY DIFFRACTION]
Mouse constitutive 20S proteasome [X-RAY DIFFRACTION]
Mouse 20S immunoproteasome in complex with PR-957 [X-RAY DIFFRACTION]
Mouse 20S immunoproteasome [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000018691
SMART Domains Protein: ENSMUSP00000018691
Gene: ENSMUSG00000018547

DomainStartEndE-ValueType
PIPKc 67 416 4.49e-156 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103147
AA Change: C122S

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000099436
Gene: ENSMUSG00000069744
AA Change: C122S

DomainStartEndE-ValueType
Pfam:Proteasome 5 190 1.8e-44 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 98% (58/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure 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. 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 a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. The 26 S proteasome may be involved in trinucleotide repeat expansion, a phenomenon which is associated with many hereditary neurological diseases. Pseudogenes have been identified on chromosomes 2 and 12. Alternative splicing results in multiple transcript variants [provided by RefSeq, Sep 2013]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 109,997,954 (GRCm39) probably null Het
Akap11 T C 14: 78,750,672 (GRCm39) T572A Het
Amigo2 A T 15: 97,144,038 (GRCm39) L128Q probably damaging Het
Ankrd12 A G 17: 66,291,542 (GRCm39) I1297T possibly damaging Het
Arhgap32 T A 9: 32,167,233 (GRCm39) C623* probably null Het
Armc2 T C 10: 41,823,935 (GRCm39) Y511C probably damaging Het
Asb15 C T 6: 24,559,296 (GRCm39) P147L possibly damaging Het
Caprin1 G T 2: 103,599,862 (GRCm39) N604K probably damaging Het
Ccnl2 T C 4: 155,897,679 (GRCm39) F113L probably benign Het
Cltc C T 11: 86,616,087 (GRCm39) R393H probably benign Het
Cul4a G A 8: 13,177,727 (GRCm39) C289Y possibly damaging Het
Cyp4a29 T A 4: 115,111,653 (GRCm39) F477I probably damaging Het
Dapk2 C T 9: 66,139,027 (GRCm39) A116V possibly damaging Het
Ddx60 T C 8: 62,451,803 (GRCm39) I1231T possibly damaging Het
Eif5b A G 1: 38,084,774 (GRCm39) I874V probably benign Het
Eral1 A T 11: 77,966,828 (GRCm39) S196T probably damaging Het
Erc2 T G 14: 27,375,122 (GRCm39) D113E probably damaging Het
Frmpd2 A G 14: 33,274,066 (GRCm39) I1103V possibly damaging Het
Galm A G 17: 80,490,766 (GRCm39) T308A probably damaging Het
Helz2 A T 2: 180,871,950 (GRCm39) N2650K probably benign Het
Herc2 A G 7: 55,809,186 (GRCm39) D2562G probably damaging Het
Hmmr G A 11: 40,612,499 (GRCm39) S206F probably damaging Het
Hspbap1 T A 16: 35,607,695 (GRCm39) L67* probably null Het
Irx3 T A 8: 92,526,834 (GRCm39) D290V probably damaging Het
Kcns1 A T 2: 164,010,022 (GRCm39) Y246N probably damaging Het
Kidins220 A G 12: 25,107,127 (GRCm39) T1557A probably benign Het
Lrriq1 T C 10: 103,069,929 (GRCm39) N29S possibly damaging Het
Mmp24 T C 2: 155,641,759 (GRCm39) F196L possibly damaging Het
Mroh2b T C 15: 4,955,119 (GRCm39) V704A probably damaging Het
Mst1 A G 9: 107,958,803 (GRCm39) M112V probably benign Het
Myh8 C A 11: 67,195,162 (GRCm39) H1659N possibly damaging Het
Nlgn1 C T 3: 26,187,534 (GRCm39) C117Y probably damaging Het
Opa1 C T 16: 29,416,489 (GRCm39) T237M possibly damaging Het
Or2r2 C T 6: 42,463,672 (GRCm39) V152I probably benign Het
Or51f5 A G 7: 102,423,917 (GRCm39) Y62C possibly damaging Het
Or5v1 A T 17: 37,810,261 (GRCm39) T240S probably damaging Het
Or8b57 A T 9: 40,003,650 (GRCm39) I204N probably damaging Het
P3h1 C T 4: 119,104,402 (GRCm39) T641M probably damaging Het
Pak5 T C 2: 135,940,203 (GRCm39) H537R probably benign Het
Ppp1r12b A T 1: 134,824,101 (GRCm39) L174Q possibly damaging Het
Prkg1 A G 19: 30,701,584 (GRCm39) V326A possibly damaging Het
Sh3bgrl3 C A 4: 133,855,312 (GRCm39) A45S probably benign Het
Slc25a47 T C 12: 108,821,868 (GRCm39) V219A possibly damaging Het
Slfn9 A C 11: 82,873,605 (GRCm39) S433A probably benign Het
Spata13 A T 14: 60,993,957 (GRCm39) R1136S possibly damaging Het
Stab1 C A 14: 30,870,911 (GRCm39) A1313S probably benign Het
Stim1 G A 7: 102,084,688 (GRCm39) A547T possibly damaging Het
Taf5l A T 8: 124,730,251 (GRCm39) I146N probably benign Het
Tbc1d12 A T 19: 38,825,824 (GRCm39) E225V possibly damaging Het
Tesc T C 5: 118,194,495 (GRCm39) Y135H probably benign Het
Tfg T C 16: 56,521,581 (GRCm39) E145G possibly damaging Het
Tg T A 15: 66,565,109 (GRCm39) C1150* probably null Het
Tmtc1 T C 6: 148,172,883 (GRCm39) N616S probably damaging Het
Trpm7 A T 2: 126,639,797 (GRCm39) W1600R probably damaging Het
Ttc17 A T 2: 94,199,526 (GRCm39) probably benign Het
Zfand1 A T 3: 10,413,615 (GRCm39) L24* probably null Het
Zfp282 AGCGGCGGCGGCGGCGGC AGCGGCGGCGGCGGC 6: 47,881,722 (GRCm39) probably benign Het
Zfp770 A C 2: 114,027,891 (GRCm39) F59L probably damaging Het
Other mutations in Psmb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01790:Psmb3 APN 11 97,603,336 (GRCm39) missense probably damaging 1.00
R1944:Psmb3 UTSW 11 97,601,981 (GRCm39) missense probably benign
R1945:Psmb3 UTSW 11 97,601,981 (GRCm39) missense probably benign
R5661:Psmb3 UTSW 11 97,597,659 (GRCm39) missense possibly damaging 0.67
R5739:Psmb3 UTSW 11 97,604,296 (GRCm39) utr 3 prime probably benign
R6155:Psmb3 UTSW 11 97,603,278 (GRCm39) missense probably damaging 0.99
R6831:Psmb3 UTSW 11 97,597,728 (GRCm39) missense probably benign 0.00
R6931:Psmb3 UTSW 11 97,594,797 (GRCm39) missense probably benign 0.02
R7219:Psmb3 UTSW 11 97,602,023 (GRCm39) missense probably null 0.09
R7663:Psmb3 UTSW 11 97,603,318 (GRCm39) missense probably damaging 1.00
R7793:Psmb3 UTSW 11 97,603,265 (GRCm39) missense probably benign
R8130:Psmb3 UTSW 11 97,594,723 (GRCm39) missense probably benign 0.36
Predicted Primers PCR Primer
(F):5'- TTGCCAGATGCCAGGAGAAG -3'
(R):5'- GTAAGAAGCTGTTCTCGCTGC -3'

Sequencing Primer
(F):5'- AGGGGAACGGGCTGCAC -3'
(R):5'- TCCAATGGAGCAGCAGC -3'
Posted On 2020-07-28