Incidental Mutation 'R3421:Psmb2'
ID 267035
Institutional Source Beutler Lab
Gene Symbol Psmb2
Ensembl Gene ENSMUSG00000028837
Gene Name proteasome (prosome, macropain) subunit, beta type 2
Synonyms HC7-I, D4Wsu33e
MMRRC Submission 040639-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R3421 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 126571423-126603507 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 126571630 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 28 (M28T)
Ref Sequence ENSEMBL: ENSMUSP00000030642 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030642]
AlphaFold Q9R1P3
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 damaging
Transcript: ENSMUST00000030642
AA Change: M28T

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000030642
Gene: ENSMUSG00000028837
AA Change: M28T

DomainStartEndE-ValueType
Pfam:Proteasome 3 183 2.3e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130737
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150372
Meta Mutation Damage Score 0.3960 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 100% (46/46)
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. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2010]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb T A 5: 114,350,697 (GRCm39) probably null Het
Agbl3 A G 6: 34,770,900 (GRCm39) T132A probably benign Het
Amn1 A T 6: 149,070,950 (GRCm39) L196* probably null Het
Ap3b2 C T 7: 81,123,598 (GRCm39) probably benign Het
Atp7b C T 8: 22,518,686 (GRCm39) D51N probably damaging Het
Brip1 A T 11: 86,043,495 (GRCm39) Y356* probably null Het
Ccdc40 C T 11: 119,125,605 (GRCm39) P348L probably benign Het
Chrdl2 G A 7: 99,673,075 (GRCm39) C9Y probably damaging Het
Chst4 T C 8: 110,757,038 (GRCm39) D192G probably damaging Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
D930048N14Rik T C 11: 51,545,785 (GRCm39) *226R probably null Het
Dmgdh T C 13: 93,847,869 (GRCm39) V522A probably benign Het
Dtx2 T A 5: 136,041,332 (GRCm39) Y246N probably damaging Het
Gtf2ird1 T A 5: 134,417,354 (GRCm39) M518L probably benign Het
Hoxc6 T A 15: 102,919,327 (GRCm39) W188R probably damaging Het
Igfn1 C T 1: 135,904,655 (GRCm39) probably null Het
Kcnip1 A G 11: 33,595,594 (GRCm39) V43A probably damaging Het
Kif4-ps A T 12: 101,113,230 (GRCm39) E453V probably damaging Het
Kifap3 T A 1: 163,621,595 (GRCm39) I81N probably damaging Het
Mgat4d T C 8: 84,084,772 (GRCm39) S172P probably damaging Het
Mr1 T C 1: 155,013,337 (GRCm39) Y80C probably damaging Het
Nuak2 A G 1: 132,259,818 (GRCm39) D532G probably benign Het
Odad2 T C 18: 7,223,523 (GRCm39) probably benign Het
Or1e1 A G 11: 73,245,460 (GRCm39) N294D probably damaging Het
Or4c123 C G 2: 89,126,897 (GRCm39) S239T probably benign Het
Or4g7 A G 2: 111,309,297 (GRCm39) H56R probably benign Het
Or4k15b T C 14: 50,271,997 (GRCm39) T288A possibly damaging Het
Or8d1 A G 9: 38,766,621 (GRCm39) K88E possibly damaging Het
Pik3cg A T 12: 32,254,738 (GRCm39) F416L probably damaging Het
Prex1 A G 2: 166,459,774 (GRCm39) V124A probably damaging Het
Ric1 T C 19: 29,544,990 (GRCm39) I230T probably damaging Het
Saysd1 T A 14: 20,132,994 (GRCm39) K54N probably benign Het
Slc25a17 C T 15: 81,244,901 (GRCm39) V11I probably benign Het
Slc5a4a T C 10: 76,012,407 (GRCm39) V359A probably benign Het
Slc7a3 T A X: 100,124,481 (GRCm39) probably benign Het
Slco1a5 A T 6: 142,213,964 (GRCm39) D52E possibly damaging Het
Soat2 T C 15: 102,065,244 (GRCm39) probably benign Het
Tafa1 C A 6: 96,626,099 (GRCm39) D112E probably damaging Het
Telo2 C T 17: 25,329,726 (GRCm39) R262Q probably damaging Het
Zdhhc14 T A 17: 5,803,366 (GRCm39) *490R probably null Het
Zfp217 A G 2: 169,961,937 (GRCm39) F130S possibly damaging Het
Zfp712 C T 13: 67,200,456 (GRCm39) V10M probably damaging Het
Other mutations in Psmb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00557:Psmb2 APN 4 126,571,642 (GRCm39) splice site probably null
IGL00899:Psmb2 APN 4 126,601,350 (GRCm39) missense probably benign 0.08
IGL01089:Psmb2 APN 4 126,577,999 (GRCm39) missense probably damaging 1.00
IGL01373:Psmb2 APN 4 126,580,885 (GRCm39) missense probably damaging 1.00
IGL02694:Psmb2 APN 4 126,603,351 (GRCm39) missense probably benign
R0811:Psmb2 UTSW 4 126,601,350 (GRCm39) missense possibly damaging 0.67
R0812:Psmb2 UTSW 4 126,601,350 (GRCm39) missense possibly damaging 0.67
R1295:Psmb2 UTSW 4 126,580,825 (GRCm39) missense probably damaging 1.00
R1296:Psmb2 UTSW 4 126,580,825 (GRCm39) missense probably damaging 1.00
R1472:Psmb2 UTSW 4 126,580,825 (GRCm39) missense probably damaging 1.00
R3420:Psmb2 UTSW 4 126,571,630 (GRCm39) missense probably damaging 0.96
R3422:Psmb2 UTSW 4 126,571,630 (GRCm39) missense probably damaging 0.96
R4663:Psmb2 UTSW 4 126,571,558 (GRCm39) missense probably damaging 0.99
R5536:Psmb2 UTSW 4 126,578,002 (GRCm39) missense probably damaging 1.00
R5884:Psmb2 UTSW 4 126,578,014 (GRCm39) missense possibly damaging 0.82
R8828:Psmb2 UTSW 4 126,603,330 (GRCm39) missense probably benign 0.00
R9047:Psmb2 UTSW 4 126,599,895 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CAATCTCAGCGCGGAAAAG -3'
(R):5'- TAGCAAGCCTCATCTGACCC -3'

Sequencing Primer
(F):5'- CGCGAGAGGTGACGTCATTG -3'
(R):5'- CTAAGCTTGTCTGCCGGC -3'
Posted On 2015-02-18