Incidental Mutation 'IGL01373:Psmb2'
ID 84082
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psmb2
Ensembl Gene ENSMUSG00000028837
Gene Name proteasome (prosome, macropain) subunit, beta type 2
Synonyms HC7-I, D4Wsu33e
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # IGL01373
Quality Score
Status
Chromosome 4
Chromosomal Location 126571423-126603507 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 126580885 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 93 (R93L)
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: R93L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000030642
Gene: ENSMUSG00000028837
AA Change: R93L

DomainStartEndE-ValueType
Pfam:Proteasome 3 183 2.3e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130737
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150372
Coding Region Coverage
Validation Efficiency
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
Acsm4 C T 7: 119,310,642 (GRCm39) R510* probably null Het
Adamts12 A T 15: 11,310,816 (GRCm39) E1024D probably benign Het
Aff2 T A X: 68,911,335 (GRCm39) D1239E possibly damaging Het
Agps T C 2: 75,683,128 (GRCm39) V151A probably benign Het
Cables1 A T 18: 12,021,821 (GRCm39) R276S probably damaging Het
Cep72 A G 13: 74,207,578 (GRCm39) S64P probably damaging Het
Cmah A T 13: 24,614,532 (GRCm39) D159V probably damaging Het
Cox6a1 C A 5: 115,483,898 (GRCm39) probably benign Het
Cpxm1 T C 2: 130,236,055 (GRCm39) E369G probably damaging Het
Dnah6 A G 6: 73,051,731 (GRCm39) L3021P probably benign Het
Esyt1 T C 10: 128,354,810 (GRCm39) E530G possibly damaging Het
Fancd2 A G 6: 113,530,713 (GRCm39) I449V probably benign Het
Fbxw24 C T 9: 109,452,701 (GRCm39) G98D probably damaging Het
Folh1 T C 7: 86,395,350 (GRCm39) I361V probably benign Het
Gpr19 T A 6: 134,847,284 (GRCm39) H41L possibly damaging Het
Kcnq4 A G 4: 120,574,229 (GRCm39) V143A probably damaging Het
Larp7-ps A G 4: 92,079,862 (GRCm39) V42A probably damaging Het
Lmcd1 A G 6: 112,287,586 (GRCm39) I91V probably benign Het
Lpin3 G T 2: 160,745,649 (GRCm39) D651Y probably damaging Het
Ms4a6b A T 19: 11,506,871 (GRCm39) H220L possibly damaging Het
Mxd4 G A 5: 34,341,690 (GRCm39) probably benign Het
Nxnl2 T C 13: 51,325,488 (GRCm39) F44L probably damaging Het
Or11g2 T A 14: 50,856,069 (GRCm39) I130N probably damaging Het
Or2ag16 T C 7: 106,351,653 (GRCm39) probably benign Het
Pcdhb20 A T 18: 37,639,621 (GRCm39) R716W probably benign Het
Pcx T A 19: 4,670,263 (GRCm39) probably null Het
Plekhf1 T C 7: 37,921,221 (GRCm39) T116A probably benign Het
Pstpip2 T A 18: 77,922,916 (GRCm39) L42* probably null Het
Ptpn22 A T 3: 103,793,520 (GRCm39) D557V probably damaging Het
Rbbp5 G A 1: 132,420,339 (GRCm39) V191I probably benign Het
Rgs1 T A 1: 144,121,116 (GRCm39) D185V probably damaging Het
Selenoh A G 2: 84,500,938 (GRCm39) probably benign Het
Slc6a5 C T 7: 49,567,481 (GRCm39) P312S probably benign Het
Snapc1 T A 12: 74,011,454 (GRCm39) M40K probably benign Het
Sptbn2 T G 19: 4,796,000 (GRCm39) Y1726* probably null Het
Syne2 T C 12: 76,033,881 (GRCm39) I3710T probably damaging Het
Tdrd9 G A 12: 112,006,868 (GRCm39) V911M probably damaging Het
Tex9 A T 9: 72,388,036 (GRCm39) D134E possibly damaging Het
Ttc41 G T 10: 86,611,821 (GRCm39) C1063F possibly damaging Het
Usp38 C A 8: 81,716,647 (GRCm39) A496S possibly damaging Het
Vmn2r13 T A 5: 109,304,568 (GRCm39) Y621F probably damaging Het
Vmn2r67 T A 7: 84,785,834 (GRCm39) M724L probably benign 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
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
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
Posted On 2013-11-11