Incidental Mutation 'R5536:Psmb2'
ID 434816
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 043094-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # R5536 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 126571423-126603507 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 126578002 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 60 (I60N)
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: I60N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030642
Gene: ENSMUSG00000028837
AA Change: I60N

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.0%
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. 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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G T 3: 137,772,149 (GRCm39) G446V possibly damaging Het
Aadac T G 3: 59,946,984 (GRCm39) N227K probably benign Het
Acap1 C T 11: 69,780,133 (GRCm39) G74R probably benign Het
Adrm1 A G 2: 179,813,981 (GRCm39) probably benign Het
Appl1 G C 14: 26,645,737 (GRCm39) S691* probably null Het
Atp2a2 T C 5: 122,595,245 (GRCm39) D1035G probably benign Het
AW551984 A G 9: 39,504,169 (GRCm39) I599T probably benign Het
Col23a1 C A 11: 51,458,776 (GRCm39) D304E probably damaging Het
Csmd1 T C 8: 16,338,674 (GRCm39) R478G probably damaging Het
Dnah7a T C 1: 53,464,412 (GRCm39) N3660D probably benign Het
Drosha T A 15: 12,929,797 (GRCm39) Y1331N possibly damaging Het
E2f6 T G 12: 16,874,685 (GRCm39) S256A probably benign Het
Evc A G 5: 37,483,927 (GRCm39) probably benign Het
Fsip2 A T 2: 82,817,403 (GRCm39) I4379F probably benign Het
Galnt2 T C 8: 125,050,412 (GRCm39) C91R probably damaging Het
Gm3095 G T 14: 15,170,371 (GRCm39) M73I probably benign Het
Gpr179 T A 11: 97,234,641 (GRCm39) Q480L probably damaging Het
Gucy2g T A 19: 55,226,359 (GRCm39) I186F probably benign Het
Hmcn1 T A 1: 150,631,042 (GRCm39) I919F probably benign Het
Kdm3a A C 6: 71,588,920 (GRCm39) V363G probably benign Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Lama5 C T 2: 179,831,142 (GRCm39) R1839H probably damaging Het
Lpo T C 11: 87,707,389 (GRCm39) D208G probably damaging Het
Lpp A G 16: 24,663,956 (GRCm39) D411G possibly damaging Het
Marco T C 1: 120,432,464 (GRCm39) S8G possibly damaging Het
Mthfr T C 4: 148,128,940 (GRCm39) F171S probably damaging Het
Nlrx1 A T 9: 44,175,183 (GRCm39) S198T probably damaging Het
Nol10 C A 12: 17,466,138 (GRCm39) S511* probably null Het
Nup153 T C 13: 46,836,485 (GRCm39) T1375A probably benign Het
Obscn A G 11: 58,998,697 (GRCm39) S1367P probably damaging Het
Or4x6 A G 2: 89,949,183 (GRCm39) V253A probably benign Het
Pcdha7 G A 18: 37,108,303 (GRCm39) V443M probably damaging Het
Plekha1 G T 7: 130,511,331 (GRCm39) R305I probably damaging Het
Rad17 C A 13: 100,767,612 (GRCm39) G330C probably damaging Het
Slc5a6 A G 5: 31,200,446 (GRCm39) S80P probably damaging Het
Srgap2 T A 1: 131,228,128 (GRCm39) probably null Het
Taf8 C A 17: 47,805,407 (GRCm39) R164L possibly damaging Het
Tmem87a C A 2: 120,227,911 (GRCm39) D79Y probably damaging Het
Tmtc4 G A 14: 123,170,291 (GRCm39) R574W probably benign Het
Tprn G A 2: 25,153,369 (GRCm39) A224T probably benign Het
Usf3 A G 16: 44,037,733 (GRCm39) T738A probably benign Het
Vmn2r54 A C 7: 12,366,343 (GRCm39) V197G probably benign Het
Zbtb40 G T 4: 136,714,642 (GRCm39) P1049Q probably damaging Het
Zfp551 A T 7: 12,149,488 (GRCm39) S640R possibly damaging Het
Zfp932 T A 5: 110,157,713 (GRCm39) C470* probably null Het
Zkscan8 T C 13: 21,710,838 (GRCm39) I91V probably damaging Het
Zmat4 T C 8: 24,238,508 (GRCm39) V30A 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
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
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'- AACCTGTTGGCTCGTGAAAC -3'
(R):5'- ATCAATCCAACAGTACGTAAGACTG -3'

Sequencing Primer
(F):5'- CCTGTTGGCTCGTGAAACTATTAAAG -3'
(R):5'- TGAGCTCCGATCCAATGTGAATG -3'
Posted On 2016-10-24