Incidental Mutation 'R1296:Psmb2'
ID 158113
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 039362-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R1296 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 126571423-126603507 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 126580825 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 73 (Y73C)
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: Y73C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030642
Gene: ENSMUSG00000028837
AA Change: Y73C

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 0.3921 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.5%
  • 20x: 87.1%
Validation Efficiency 100% (72/72)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 G A 8: 56,324,754 (GRCm39) Q567* probably null Het
Apol11a T C 15: 77,395,219 (GRCm39) probably benign Het
Arhgap29 A G 3: 121,786,044 (GRCm39) H275R probably benign Het
Arhgef17 C A 7: 100,530,476 (GRCm39) E428* probably null Het
Atm A T 9: 53,367,830 (GRCm39) V2431E probably damaging Het
Atn1 G T 6: 124,724,750 (GRCm39) P161Q unknown Het
Atp13a2 T C 4: 140,721,113 (GRCm39) S99P probably damaging Het
Atp8a1 A T 5: 67,780,049 (GRCm39) probably benign Het
Cdk18 T C 1: 132,047,698 (GRCm39) probably benign Het
Cep85 A G 4: 133,894,711 (GRCm39) W32R probably damaging Het
Cntn4 G T 6: 106,486,363 (GRCm39) G264C probably damaging Het
Col6a4 A G 9: 105,940,052 (GRCm39) S1293P possibly damaging Het
Col6a6 T C 9: 105,658,290 (GRCm39) K641E probably damaging Het
Dmd A T X: 82,922,126 (GRCm39) K1465N probably damaging Het
Dus2 T C 8: 106,779,675 (GRCm39) V403A possibly damaging Het
Frs2 C T 10: 116,916,979 (GRCm39) C5Y probably benign Het
Gm5174 A G 10: 86,492,866 (GRCm39) noncoding transcript Het
Gpr61 A G 3: 108,057,797 (GRCm39) V288A possibly damaging Het
Grik3 G A 4: 125,598,357 (GRCm39) probably benign Het
Haao T A 17: 84,146,267 (GRCm39) Q69L probably benign Het
Ints6 T C 14: 62,942,352 (GRCm39) probably benign Het
Ints8 T C 4: 11,221,204 (GRCm39) I724V possibly damaging Het
Lrrk2 G A 15: 91,613,123 (GRCm39) C749Y probably damaging Het
Map4k1 A G 7: 28,697,877 (GRCm39) D471G possibly damaging Het
Mbtd1 A G 11: 93,801,185 (GRCm39) Y122C probably damaging Het
Mif-ps9 T A 19: 56,743,766 (GRCm39) noncoding transcript Het
Mrfap1 A G 5: 36,953,817 (GRCm39) S41P possibly damaging Het
Mrm2 T C 5: 140,314,308 (GRCm39) T176A probably benign Het
Mslnl T C 17: 25,962,214 (GRCm39) L204P probably damaging Het
Muc6 T C 7: 141,238,144 (GRCm39) E112G probably benign Het
Nfyb A G 10: 82,586,665 (GRCm39) probably benign Het
Nlgn3 T C X: 100,352,522 (GRCm39) probably benign Het
Nr3c1 G A 18: 39,620,051 (GRCm39) Q79* probably null Het
Nxpe4 C G 9: 48,307,793 (GRCm39) T299R probably benign Het
Otud4 C A 8: 80,400,603 (GRCm39) H1105N unknown Het
Pcnx2 A G 8: 126,500,572 (GRCm39) L1506P probably damaging Het
Prl2c5 T A 13: 13,364,009 (GRCm39) H88Q probably damaging Het
Rbl1 A T 2: 157,011,891 (GRCm39) V688D probably benign Het
Rhox2g C A X: 36,824,865 (GRCm39) probably benign Het
Rmnd5a G A 6: 71,375,439 (GRCm39) L80F probably benign Het
Ryr2 T C 13: 11,702,765 (GRCm39) probably benign Het
Sele T A 1: 163,878,379 (GRCm39) S239R probably damaging Het
Siglecf A T 7: 43,005,344 (GRCm39) R435* probably null Het
Slc23a1 C T 18: 35,755,676 (GRCm39) V407M possibly damaging Het
Slc6a14 G A X: 21,587,807 (GRCm39) V122I probably benign Het
Spdl1 T A 11: 34,704,434 (GRCm39) E466D unknown Het
Stau2 A G 1: 16,510,596 (GRCm39) F121L probably benign Het
Stxbp1 A T 2: 32,684,648 (GRCm39) S594T probably benign Het
Sufu G A 19: 46,443,159 (GRCm39) probably benign Het
Tap2 G T 17: 34,430,889 (GRCm39) V330L probably benign Het
Tbc1d1 T C 5: 64,421,775 (GRCm39) L389P probably damaging Het
Tbx2 A G 11: 85,725,592 (GRCm39) E181G probably damaging Het
Tlcd4 A G 3: 121,000,940 (GRCm39) V231A probably benign Het
Tmprss9 G T 10: 80,726,279 (GRCm39) A510S probably benign Het
Tnxb G A 17: 34,890,551 (GRCm39) C298Y probably damaging Het
Tril G T 6: 53,795,012 (GRCm39) R737S probably damaging Het
Ugt2a3 A T 5: 87,475,005 (GRCm39) L413Q probably damaging Het
Vcan A G 13: 89,805,675 (GRCm39) I2335T probably damaging Het
Vmn2r28 T C 7: 5,484,544 (GRCm39) N552S possibly damaging Het
Zc3h7a C T 16: 10,978,890 (GRCm39) R95H probably damaging Het
Zfp598 A G 17: 24,898,623 (GRCm39) N474S probably benign Het
Zng1 A T 19: 24,920,039 (GRCm39) probably benign Het
Zpld1 T C 16: 55,068,697 (GRCm39) D138G 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
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
R3421: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'- TACTCAGGTGAAGGGTCTGCGATG -3'
(R):5'- CATTAGCCTCCCAAGCGACAGATTTAG -3'

Sequencing Primer
(F):5'- cagcctgatgactggagac -3'
(R):5'- TAGATTGTAAAAAGCAGCAATACCC -3'
Posted On 2014-02-18