Incidental Mutation 'R5651:Psmb5'
ID 441437
Institutional Source Beutler Lab
Gene Symbol Psmb5
Ensembl Gene ENSMUSG00000022193
Gene Name proteasome (prosome, macropain) subunit, beta type 5
Synonyms
MMRRC Submission 043297-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R5651 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 54851577-54855452 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 54854221 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 86 (A86T)
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 possibly damaging
Transcript: ENSMUST00000022803
AA Change: A86T

PolyPhen 2 Score 0.636 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000022803
Gene: ENSMUSG00000022193
AA Change: A86T

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
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
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 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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik2 G A 11: 48,910,700 (GRCm39) H578Y probably damaging Het
Atp11b A G 3: 35,909,289 (GRCm39) D1161G probably damaging Het
Atp8b1 G C 18: 64,664,453 (GRCm39) I1238M probably benign Het
AY358078 T A 14: 52,059,617 (GRCm39) V318D unknown Het
B020004C17Rik C T 14: 57,252,689 (GRCm39) probably benign Het
Boc T A 16: 44,341,558 (GRCm39) I16F probably benign Het
Brinp3 A T 1: 146,577,537 (GRCm39) T191S probably benign Het
Cald1 T A 6: 34,739,255 (GRCm39) N419K probably damaging Het
Cecr2 G A 6: 120,732,521 (GRCm39) G471D probably damaging Het
Cftr T A 6: 18,255,364 (GRCm39) probably null Het
Cyp2c38 T A 19: 39,449,156 (GRCm39) T66S probably damaging Het
Fbxo11 A T 17: 88,323,136 (GRCm39) D83E probably benign Het
Fshr T A 17: 89,293,257 (GRCm39) M474L possibly damaging Het
Hhla1 T A 15: 65,813,663 (GRCm39) E223V probably damaging Het
Hnrnpa1 G C 15: 103,148,955 (GRCm39) E5D possibly damaging Het
Htr2a T A 14: 74,943,143 (GRCm39) V241E probably damaging Het
Ier5 T C 1: 154,974,491 (GRCm39) E229G possibly damaging Het
Inka2 C A 3: 105,623,748 (GRCm39) Q22K probably damaging Het
Krt87 A T 15: 101,331,910 (GRCm39) M276K possibly damaging Het
Mast1 G C 8: 85,655,597 (GRCm39) Y182* probably null Het
Mia3 T A 1: 183,139,998 (GRCm39) D239V probably damaging Het
Mmut T A 17: 41,258,002 (GRCm39) D389E probably damaging Het
Mpp7 A G 18: 7,355,016 (GRCm39) probably null Het
Mycbp2 A G 14: 103,520,101 (GRCm39) C739R probably null Het
Or13e8 C G 4: 43,696,636 (GRCm39) C179S probably damaging Het
Or5k14 A G 16: 58,692,847 (GRCm39) L222P probably damaging Het
Or8k21 A G 2: 86,144,784 (GRCm39) I282T probably benign Het
Or9e1 A T 11: 58,732,317 (GRCm39) R126* probably null Het
Palld A T 8: 61,991,822 (GRCm39) I510N probably damaging Het
Pappa A G 4: 65,074,589 (GRCm39) E381G probably damaging Het
Phldb1 G A 9: 44,623,200 (GRCm39) T618I probably damaging Het
Pkd1 A G 17: 24,810,361 (GRCm39) E3631G possibly damaging Het
Pkhd1 C T 1: 20,188,031 (GRCm39) V3426I probably benign Het
Plk4 A G 3: 40,767,940 (GRCm39) T828A probably benign Het
Rasal2 A G 1: 156,984,951 (GRCm39) V907A probably damaging Het
Rxra C T 2: 27,627,353 (GRCm39) T24M probably benign Het
Senp1 A G 15: 97,974,498 (GRCm39) S105P probably benign Het
Sh3rf1 A G 8: 61,816,201 (GRCm39) D486G probably damaging Het
Slc49a4 G A 16: 35,555,986 (GRCm39) A158V probably benign Het
Slfn5 A C 11: 82,851,490 (GRCm39) N596H probably benign Het
Tanc2 T A 11: 105,689,526 (GRCm39) D229E probably benign Het
Taok2 T C 7: 126,479,455 (GRCm39) K57E probably damaging Het
Thsd7a C T 6: 12,343,212 (GRCm39) C1135Y probably damaging Het
V1ra8 T C 6: 90,180,508 (GRCm39) L237P probably benign Het
Vcpip1 G A 1: 9,818,065 (GRCm39) T106M probably damaging Het
Vmn1r215 T G 13: 23,259,981 (GRCm39) I7S possibly damaging Het
Vmn1r233 T A 17: 21,214,279 (GRCm39) M224L probably benign Het
Xpot A T 10: 121,440,454 (GRCm39) D592E 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
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
R6687:Psmb5 UTSW 14 54,854,130 (GRCm39) missense probably damaging 0.98
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'- ATCATGGTGCCCATAGACAGC -3'
(R):5'- GTCGATTCCAAAATCCCAAAAGATG -3'

Sequencing Primer
(F):5'- GTACTGATACACCATGTTAGCGAGC -3'
(R):5'- GCAAAGCCAGGTTATCTTTCTG -3'
Posted On 2016-11-08