Incidental Mutation 'R6787:Psmd5'
ID 532413
Institutional Source Beutler Lab
Gene Symbol Psmd5
Ensembl Gene ENSMUSG00000026869
Gene Name proteasome (prosome, macropain) 26S subunit, non-ATPase, 5
Synonyms S5b, 1500032A03Rik
MMRRC Submission 044901-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6787 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 34742099-34760983 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 34747649 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000028225]
AlphaFold Q8BJY1
Predicted Effect probably null
Transcript: ENSMUST00000028225
SMART Domains Protein: ENSMUSP00000028225
Gene: ENSMUSG00000026869

DomainStartEndE-ValueType
Pfam:Proteasom_PSMB 1 504 3.8e-199 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000135575
SMART Domains Protein: ENSMUSP00000116880
Gene: ENSMUSG00000026869

DomainStartEndE-ValueType
Pfam:Proteasom_PSMB 1 56 1.4e-17 PFAM
Pfam:Proteasom_PSMB 51 140 1.5e-34 PFAM
Meta Mutation Damage Score 0.9713 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
Validation Efficiency 96% (51/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core 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. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase 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. This gene encodes a non-ATPase subunit of the 19S regulator base that functions as a chaperone protein during 26S proteasome assembly. [provided by RefSeq, Jul 2012]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik G A 12: 55,126,768 (GRCm39) T32I probably benign Het
4930486L24Rik T A 13: 61,000,922 (GRCm39) I205L probably benign Het
Aatk C T 11: 119,901,508 (GRCm39) V963M probably damaging Het
Adra1b C A 11: 43,726,242 (GRCm39) R225L probably damaging Het
Adrb1 T C 19: 56,711,021 (GRCm39) V73A probably damaging Het
Akt3 A T 1: 176,877,756 (GRCm39) Y337* probably null Het
BC035947 G T 1: 78,475,527 (GRCm39) P335Q possibly damaging Het
C2cd3 T C 7: 100,104,553 (GRCm39) F2189L probably benign Het
Capn9 A G 8: 125,342,924 (GRCm39) I635V probably benign Het
Cep55 T A 19: 38,046,374 (GRCm39) D42E probably benign Het
Cftr T A 6: 18,274,607 (GRCm39) Y878* probably null Het
Clpb A T 7: 101,312,866 (GRCm39) probably benign Het
Cpeb3 T C 19: 37,022,089 (GRCm39) I569V possibly damaging Het
Cpne6 A T 14: 55,752,701 (GRCm39) D297V probably damaging Het
Ddhd1 T C 14: 45,894,976 (GRCm39) T165A probably benign Het
Fam98b T C 2: 117,093,402 (GRCm39) probably null Het
Frem2 T C 3: 53,561,744 (GRCm39) N921S probably benign Het
Gbf1 T A 19: 46,260,211 (GRCm39) V1039E probably benign Het
Gmip A G 8: 70,266,436 (GRCm39) E212G probably damaging Het
Gpcpd1 C T 2: 132,379,758 (GRCm39) probably benign Het
Gtf2ird1 A T 5: 134,392,766 (GRCm39) N796K probably damaging Het
Hadhb T C 5: 30,360,247 (GRCm39) probably benign Het
Itga4 T A 2: 79,119,609 (GRCm39) S472T probably damaging Het
Kcna4 G A 2: 107,125,670 (GRCm39) E135K possibly damaging Het
Kmt2c G T 5: 25,480,737 (GRCm39) probably null Het
Lama1 T C 17: 68,091,020 (GRCm39) I1620T unknown Het
Lins1 A G 7: 66,363,902 (GRCm39) E594G probably benign Het
Lrrc38 T A 4: 143,096,364 (GRCm39) M225K probably benign Het
Mphosph9 A G 5: 124,399,090 (GRCm39) I975T probably damaging Het
Mrgprh T C 17: 13,095,874 (GRCm39) F38S probably benign Het
Myo1h G A 5: 114,458,714 (GRCm39) G150R probably damaging Het
Oas2 T G 5: 120,876,863 (GRCm39) I391L possibly damaging Het
Or4a70 T A 2: 89,324,378 (GRCm39) R93* probably null Het
Or5p72 T C 7: 108,021,889 (GRCm39) I37T possibly damaging Het
Or6c3b T A 10: 129,527,391 (GRCm39) D173V possibly damaging Het
Or7e178 T C 9: 20,247,221 (GRCm39) D14G probably benign Het
Pdcd5 T C 7: 35,342,063 (GRCm39) T182A probably damaging Het
Pdlim7 T C 13: 55,656,810 (GRCm39) D48G probably damaging Het
Polr3b A C 10: 84,464,489 (GRCm39) probably null Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Homo
Sdhb T C 4: 140,703,501 (GRCm39) Y208H probably damaging Het
Serinc5 G A 13: 92,842,740 (GRCm39) V397I possibly damaging Het
Sik2 A T 9: 50,909,834 (GRCm39) M73K possibly damaging Het
Slc41a1 A G 1: 131,770,487 (GRCm39) probably null Het
Slco1a1 T C 6: 141,882,213 (GRCm39) I119V probably benign Het
Srd5a1 T C 13: 69,759,418 (GRCm39) probably benign Het
Stab2 T C 10: 86,754,948 (GRCm39) I1111V probably benign Het
Stxbp6 G T 12: 44,949,779 (GRCm39) probably null Het
Tbc1d19 A G 5: 53,992,591 (GRCm39) probably null Het
Tnxb A T 17: 34,929,710 (GRCm39) T2815S probably benign Het
Txnip T A 3: 96,467,623 (GRCm39) I363N probably damaging Het
Zfp442 A T 2: 150,251,499 (GRCm39) N134K possibly damaging Het
Other mutations in Psmd5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01815:Psmd5 APN 2 34,742,783 (GRCm39) missense probably benign 0.05
IGL01929:Psmd5 APN 2 34,753,478 (GRCm39) missense probably damaging 0.96
IGL02019:Psmd5 APN 2 34,744,286 (GRCm39) missense probably benign 0.16
IGL02291:Psmd5 APN 2 34,747,811 (GRCm39) missense probably benign
IGL02402:Psmd5 APN 2 34,747,784 (GRCm39) missense probably damaging 0.98
R1597:Psmd5 UTSW 2 34,757,035 (GRCm39) missense probably damaging 0.97
R1820:Psmd5 UTSW 2 34,760,758 (GRCm39) splice site probably null
R4855:Psmd5 UTSW 2 34,742,564 (GRCm39) utr 3 prime probably benign
R4948:Psmd5 UTSW 2 34,760,795 (GRCm39) missense probably benign 0.00
R5019:Psmd5 UTSW 2 34,755,965 (GRCm39) intron probably benign
R5633:Psmd5 UTSW 2 34,746,500 (GRCm39) missense probably benign 0.00
R6208:Psmd5 UTSW 2 34,757,023 (GRCm39) missense probably damaging 1.00
R6765:Psmd5 UTSW 2 34,746,545 (GRCm39) missense probably benign
R7594:Psmd5 UTSW 2 34,750,741 (GRCm39) missense probably benign 0.12
R7883:Psmd5 UTSW 2 34,746,524 (GRCm39) missense possibly damaging 0.81
R8409:Psmd5 UTSW 2 34,760,856 (GRCm39) missense probably damaging 0.99
R8886:Psmd5 UTSW 2 34,747,755 (GRCm39) missense possibly damaging 0.71
R9218:Psmd5 UTSW 2 34,747,794 (GRCm39) missense probably benign 0.12
R9457:Psmd5 UTSW 2 34,744,338 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CACATGGTTCTTGTTGGATGAAAG -3'
(R):5'- TTTTGGAAACCTGGCCGTC -3'

Sequencing Primer
(F):5'- GTTCTTGTTGGATGAAAGCCTAC -3'
(R):5'- GTCATGGATAGTCCTCAGCAGATC -3'
Posted On 2018-08-29