Incidental Mutation 'R6687:Psmb5'
ID 527843
Institutional Source Beutler Lab
Gene Symbol Psmb5
Ensembl Gene ENSMUSG00000022193
Gene Name proteasome (prosome, macropain) subunit, beta type 5
Synonyms
MMRRC Submission 044805-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R6687 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 54851577-54855452 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 54854130 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 116 (R116L)
Ref Sequence ENSEMBL: ENSMUSP00000022803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022803] [ENSMUST00000227257] [ENSMUST00000228446]
AlphaFold O55234
PDB Structure Mouse constitutive 20S proteasome in complex with PR-957 [X-RAY DIFFRACTION]
Mouse constitutive 20S proteasome [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000022803
AA Change: R116L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022803
Gene: ENSMUSG00000022193
AA Change: R116L

DomainStartEndE-ValueType
low complexity region 17 42 N/A INTRINSIC
Pfam:Proteasome 56 238 8.3e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000102174
Predicted Effect probably benign
Transcript: ENSMUST00000227257
Predicted Effect probably benign
Transcript: ENSMUST00000228446
Meta Mutation Damage Score 0.6772 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 100% (33/33)
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 in the proteasome. This catalytic subunit is not present in the immunoproteasome and is replaced by catalytic subunit 3i (proteasome beta 8 subunit). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl4 T C 3: 151,248,392 (GRCm39) V688A probably benign Het
AI661453 A G 17: 47,777,927 (GRCm39) probably benign Het
Atp6ap1l A G 13: 91,034,842 (GRCm39) F180S probably benign Het
Cfd G A 10: 79,727,553 (GRCm39) V77M probably damaging Het
Col5a2 A T 1: 45,422,764 (GRCm39) L1151H probably damaging Het
Dennd3 G A 15: 73,428,215 (GRCm39) V854M possibly damaging Het
Dlg5 C T 14: 24,240,441 (GRCm39) R247Q probably damaging Het
Fam3c G C 6: 22,328,669 (GRCm39) P53A probably benign Het
Gpbp1 T C 13: 111,574,619 (GRCm39) N302D possibly damaging Het
Hmcn1 A G 1: 150,620,784 (GRCm39) V1142A probably benign Het
Ighv9-3 G A 12: 114,104,544 (GRCm39) S40F probably damaging Het
Insr C T 8: 3,248,111 (GRCm39) R478H probably benign Het
Kcna2 C A 3: 107,012,343 (GRCm39) S308Y probably damaging Het
Larp1 A G 11: 57,948,156 (GRCm39) D985G probably damaging Het
Loxl3 A T 6: 83,027,645 (GRCm39) H729L probably damaging Het
Lrrc14b T C 13: 74,508,881 (GRCm39) M509V probably benign Het
Lrrc8e A G 8: 4,284,798 (GRCm39) Y341C probably damaging Het
Mettl18 A G 1: 163,824,369 (GRCm39) D230G possibly damaging Het
Mup12 T C 4: 60,697,308 (GRCm39) probably benign Het
Myo1c T C 11: 75,563,027 (GRCm39) S1020P probably benign Het
Or3a4 C A 11: 73,945,210 (GRCm39) R125L probably damaging Het
Phkb T C 8: 86,756,175 (GRCm39) I823T probably damaging Het
Rpap2 T C 5: 107,751,496 (GRCm39) probably null Het
Rpl38 T C 11: 114,559,594 (GRCm39) probably benign Het
Scn8a T C 15: 100,872,508 (GRCm39) F516L probably benign Het
Slc51a A T 16: 32,298,543 (GRCm39) D71E probably damaging Het
Slco1a6 T C 6: 142,045,076 (GRCm39) E470G possibly damaging Het
Spag17 C A 3: 100,000,266 (GRCm39) H1811N probably benign Het
Sycp2 C T 2: 177,996,753 (GRCm39) C1150Y probably damaging Het
Ttc12 A G 9: 49,349,718 (GRCm39) V693A probably benign Het
Wdr83 C T 8: 85,806,778 (GRCm39) V101I probably benign Het
Wnt3 G T 11: 103,703,411 (GRCm39) R298L probably damaging Het
Other mutations in Psmb5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01140:Psmb5 APN 14 54,855,264 (GRCm39) missense possibly damaging 0.85
IGL02967:Psmb5 APN 14 54,854,083 (GRCm39) missense probably benign 0.11
IGL03095:Psmb5 APN 14 54,854,014 (GRCm39) missense probably damaging 1.00
R2447:Psmb5 UTSW 14 54,851,927 (GRCm39) missense probably damaging 0.97
R5651:Psmb5 UTSW 14 54,854,221 (GRCm39) missense possibly damaging 0.64
R6346:Psmb5 UTSW 14 54,854,130 (GRCm39) missense probably damaging 0.98
R6372:Psmb5 UTSW 14 54,854,130 (GRCm39) missense probably damaging 0.98
R6657:Psmb5 UTSW 14 54,851,840 (GRCm39) missense possibly damaging 0.61
R6688:Psmb5 UTSW 14 54,854,130 (GRCm39) missense probably damaging 0.98
R6752:Psmb5 UTSW 14 54,854,212 (GRCm39) missense probably benign 0.00
R7007:Psmb5 UTSW 14 54,854,166 (GRCm39) missense probably damaging 0.99
R7801:Psmb5 UTSW 14 54,854,212 (GRCm39) missense probably benign 0.00
R8066:Psmb5 UTSW 14 54,851,698 (GRCm39) missense probably benign 0.00
R8278:Psmb5 UTSW 14 54,855,342 (GRCm39) missense probably benign 0.13
R8497:Psmb5 UTSW 14 54,851,837 (GRCm39) missense possibly damaging 0.95
R8728:Psmb5 UTSW 14 54,855,261 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGGCTCACAGGACACAACTC -3'
(R):5'- GCAAAGCCAGGTTATCTTTCTG -3'

Sequencing Primer
(F):5'- ACTCACCAGGGCCTCTC -3'
(R):5'- TGGTCTTACGGGGCCTCTC -3'
Posted On 2018-07-23