Incidental Mutation 'R6765:Psmd5'
ID 531843
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 044881-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6765 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 34742099-34760983 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 34746545 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 344 (M344R)
Ref Sequence ENSEMBL: ENSMUSP00000028225 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028225]
AlphaFold Q8BJY1
Predicted Effect probably benign
Transcript: ENSMUST00000028225
AA Change: M344R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028225
Gene: ENSMUSG00000026869
AA Change: M344R

DomainStartEndE-ValueType
Pfam:Proteasom_PSMB 1 504 3.8e-199 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000135575
AA Change: M26R
SMART Domains Protein: ENSMUSP00000116880
Gene: ENSMUSG00000026869
AA Change: M26R

DomainStartEndE-ValueType
Pfam:Proteasom_PSMB 1 56 1.4e-17 PFAM
Pfam:Proteasom_PSMB 51 140 1.5e-34 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.5%
Validation Efficiency 100% (58/58)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl3 C A 7: 82,216,232 (GRCm39) D878E possibly damaging Het
Adipor2 A C 6: 119,334,203 (GRCm39) F336V possibly damaging Het
Akt3 A T 1: 176,877,756 (GRCm39) Y337* probably null Het
Aoc1 A G 6: 48,882,871 (GRCm39) N249S probably benign Het
Ap1b1 T A 11: 4,969,427 (GRCm39) L261Q probably damaging Het
Ap3b1 T A 13: 94,599,017 (GRCm39) D530E probably benign Het
Arid4b T A 13: 14,361,900 (GRCm39) M788K possibly damaging Het
Atp2c2 A T 8: 120,479,756 (GRCm39) I762F probably damaging Het
Bhlhe23 C A 2: 180,418,136 (GRCm39) R134L probably damaging Het
Cacna2d3 T C 14: 28,777,934 (GRCm39) D687G probably damaging Het
Ccdc136 G A 6: 29,405,940 (GRCm39) M95I probably benign Het
Cdk12 T A 11: 98,115,355 (GRCm39) I832N unknown Het
Clcn2 A C 16: 20,526,418 (GRCm39) probably null Het
Csrnp2 C T 15: 100,380,574 (GRCm39) R239Q probably damaging Het
Dhrs13 T A 11: 77,927,965 (GRCm39) D270E probably benign Het
Dlgap2 G A 8: 14,793,284 (GRCm39) G426D probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Fam120a A G 13: 49,045,440 (GRCm39) Y799H probably damaging Het
Farp1 G A 14: 121,460,066 (GRCm39) V112I probably benign Het
Fhip2a A G 19: 57,367,177 (GRCm39) D240G probably benign Het
Fsip2 A G 2: 82,816,776 (GRCm39) I4170V probably benign Het
Gm12185 A G 11: 48,806,531 (GRCm39) V220A probably benign Het
Gpr37l1 T C 1: 135,094,860 (GRCm39) Y128C probably damaging Het
Gsto2 A T 19: 47,860,227 (GRCm39) R7* probably null Het
Itih3 C T 14: 30,631,430 (GRCm39) G822D probably benign Het
Kcnu1 A T 8: 26,403,673 (GRCm39) D728V probably damaging Het
Khdc4 G T 3: 88,593,736 (GRCm39) G42W probably damaging Het
Lnpep G A 17: 17,750,758 (GRCm39) T976I probably damaging Het
Map1b A C 13: 99,562,449 (GRCm39) H2420Q unknown Het
Mc1r A G 8: 124,134,435 (GRCm39) K63E probably damaging Het
Mpped1 G A 15: 83,720,584 (GRCm39) V15M probably damaging Het
Ncor1 T C 11: 62,264,272 (GRCm39) T103A probably benign Het
Nhsl1 A T 10: 18,407,062 (GRCm39) T1399S probably benign Het
Nlrc5 C T 8: 95,216,996 (GRCm39) T995M probably benign Het
Nrbp1 G A 5: 31,403,190 (GRCm39) probably null Het
Or10g9 A C 9: 39,912,493 (GRCm39) F10C probably damaging Het
Or4c116 G T 2: 88,942,640 (GRCm39) T72N possibly damaging Het
Or8k27 T C 2: 86,275,580 (GRCm39) T249A probably benign Het
Pcdhb13 T C 18: 37,576,663 (GRCm39) L347P probably damaging Het
Pkhd1 T C 1: 20,128,563 (GRCm39) T4047A probably benign Het
Prrt2 T A 7: 126,618,769 (GRCm39) D232V probably damaging Het
Pwp1 G A 10: 85,720,397 (GRCm39) E345K probably damaging Het
Qsox1 A G 1: 155,666,851 (GRCm39) Y213H probably benign Het
Rmc1 A G 18: 12,309,203 (GRCm39) N92D possibly damaging Het
Sclt1 T C 3: 41,685,337 (GRCm39) R39G unknown Het
Syne1 A T 10: 5,093,285 (GRCm39) probably null Het
Tmem163 G T 1: 127,479,078 (GRCm39) A147E probably damaging Het
Trav13n-4 A T 14: 53,601,557 (GRCm39) M109L probably benign Het
Trp53bp1 T C 2: 121,039,790 (GRCm39) E1283G probably damaging Het
Trpm6 T A 19: 18,855,129 (GRCm39) D1929E probably damaging Het
Upb1 A T 10: 75,273,978 (GRCm39) D335V probably damaging Het
Vps26b T C 9: 26,924,104 (GRCm39) E213G probably damaging Het
Vwc2 C T 11: 11,104,215 (GRCm39) T249I probably benign Het
Wwc2 A G 8: 48,353,826 (GRCm39) Y103H possibly damaging Het
Zan A G 5: 137,391,409 (GRCm39) C4692R unknown Het
Zfp106 T C 2: 120,369,935 (GRCm39) E29G probably damaging Het
Zfp551 G A 7: 12,150,767 (GRCm39) A214V possibly damaging Het
Zfp981 T A 4: 146,622,363 (GRCm39) H429Q probably benign 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
R6787:Psmd5 UTSW 2 34,747,649 (GRCm39) critical splice donor site probably null
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'- GTTTTCATGTCCCAGTAACATAGTG -3'
(R):5'- TTCTAAGCATAACAAGTGTTCAGATG -3'

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