Incidental Mutation 'R3889:Psme3'
ID 310200
Institutional Source Beutler Lab
Gene Symbol Psme3
Ensembl Gene ENSMUSG00000078652
Gene Name proteaseome (prosome, macropain) activator subunit 3 (PA28 gamma, Ki)
Synonyms pa28g, REGgamma, PA28gamma, Ki
MMRRC Submission 040801-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.945) question?
Stock # R3889 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 101207039-101214363 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 101210282 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 82 (P82T)
Ref Sequence ENSEMBL: ENSMUSP00000019470 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019470] [ENSMUST00000142640] [ENSMUST00000151385]
AlphaFold P61290
Predicted Effect probably damaging
Transcript: ENSMUST00000019470
AA Change: P82T

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000019470
Gene: ENSMUSG00000078652
AA Change: P82T

DomainStartEndE-ValueType
Pfam:PA28_alpha 9 69 2.9e-30 PFAM
Pfam:PA28_beta 108 252 3e-68 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127998
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131170
Predicted Effect possibly damaging
Transcript: ENSMUST00000142640
AA Change: P107T

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000118279
Gene: ENSMUSG00000078652
AA Change: P107T

DomainStartEndE-ValueType
Pfam:PA28_alpha 31 95 8.4e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000151385
AA Change: P93T

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000116996
Gene: ENSMUSG00000078652
AA Change: P93T

DomainStartEndE-ValueType
Pfam:PA28_alpha 17 81 1.5e-32 PFAM
Pfam:PA28_beta 116 203 5.6e-40 PFAM
Meta Mutation Damage Score 0.1312 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 94% (51/54)
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. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. The immunoproteasome contains an alternate regulator, referred to as the 11S regulator or PA28, that replaces the 19S regulator. Three subunits (alpha, beta and gamma) of the 11S regulator have been identified. This gene encodes the gamma subunit of the 11S regulator. Six gamma subunits combine to form a homohexameric ring. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
PHENOTYPE: Homozygous null mutants are smaller than normal with a defect in cell proliferation and increased susceptibility to fungal infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933407L21Rik T A 1: 85,868,273 (GRCm39) probably null Het
7530416G11Rik A G 15: 85,378,292 (GRCm39) F117S unknown Het
Adamts5 A G 16: 85,665,009 (GRCm39) W652R probably damaging Het
Adamtsl4 G T 3: 95,588,167 (GRCm39) Q607K probably damaging Het
Atm T C 9: 53,417,936 (GRCm39) probably benign Het
Atp6v0a2 G A 5: 124,777,203 (GRCm39) R168Q probably damaging Het
B930094E09Rik G A 18: 31,742,742 (GRCm39) S59N unknown Het
Baiap2l1 T C 5: 144,215,345 (GRCm39) T387A possibly damaging Het
Cct3 A T 3: 88,228,334 (GRCm39) Q472L probably benign Het
Chd3 C T 11: 69,250,011 (GRCm39) E623K probably damaging Het
Cps1 C A 1: 67,204,659 (GRCm39) T493K possibly damaging Het
Dclre1a A T 19: 56,533,752 (GRCm39) C263S probably benign Het
Dmxl1 T A 18: 50,011,326 (GRCm39) M1161K probably damaging Het
Eif2ak1 A T 5: 143,821,479 (GRCm39) Q265L probably benign Het
Elp1 G A 4: 56,759,852 (GRCm39) R1138C probably damaging Het
Epha3 A G 16: 63,431,327 (GRCm39) F526L probably damaging Het
Etl4 C T 2: 20,534,772 (GRCm39) Q76* probably null Het
Fat2 C A 11: 55,172,589 (GRCm39) G2708V probably damaging Het
Fgd6 G A 10: 93,925,499 (GRCm39) E853K probably damaging Het
Fn1 T C 1: 71,679,465 (GRCm39) Y511C probably damaging Het
Foxd2 T C 4: 114,765,483 (GRCm39) H179R unknown Het
Fsd1 A G 17: 56,300,893 (GRCm39) K251E probably benign Het
Gjc3 T A 5: 137,956,105 (GRCm39) N60I possibly damaging Het
Gpc5 T C 14: 115,607,472 (GRCm39) M358T probably benign Het
H6pd T A 4: 150,080,230 (GRCm39) Y197F possibly damaging Het
Hip1r C T 5: 124,139,854 (GRCm39) R986* probably null Het
Igkv9-120 A G 6: 68,027,362 (GRCm39) D92G probably damaging Het
Il6 A G 5: 30,223,066 (GRCm39) K128E possibly damaging Het
Irf4 T C 13: 30,945,473 (GRCm39) probably benign Het
Lcor T A 19: 41,546,795 (GRCm39) S126R probably damaging Het
Ltbp2 A G 12: 84,831,681 (GRCm39) probably benign Het
Pcmt1 C T 10: 7,524,814 (GRCm39) probably null Het
Plekhm2 C T 4: 141,369,301 (GRCm39) probably benign Het
Prkca C T 11: 107,870,066 (GRCm39) G450R probably damaging Het
Rgs11 T C 17: 26,426,561 (GRCm39) I262T probably damaging Het
Rreb1 G T 13: 38,077,941 (GRCm39) R51L probably damaging Het
Rsf1 GGCG GGCGACGGCTGCG 7: 97,229,113 (GRCm39) probably benign Het
Serpina1e A T 12: 103,917,132 (GRCm39) V179E probably damaging Het
Sgo2b T C 8: 64,380,777 (GRCm39) Q685R possibly damaging Het
Slc15a2 A G 16: 36,602,666 (GRCm39) F65S probably damaging Het
Slc25a45 C T 19: 5,930,661 (GRCm39) probably benign Het
Snapc4 G A 2: 26,255,510 (GRCm39) Q1005* probably null Het
Spen A G 4: 141,205,192 (GRCm39) V1145A unknown Het
Stub1 T C 17: 26,050,276 (GRCm39) probably benign Het
Taar8a A G 10: 23,952,923 (GRCm39) I176V probably benign Het
Tacr2 G A 10: 62,100,865 (GRCm39) C325Y probably damaging Het
Tbc1d17 T A 7: 44,495,362 (GRCm39) H154L probably damaging Het
Tll1 A T 8: 64,658,258 (GRCm39) C54S possibly damaging Het
Tpsb2 G A 17: 25,586,457 (GRCm39) V181I probably damaging Het
Trak1 A G 9: 121,274,939 (GRCm39) N146S probably null Het
Vmn1r177 T C 7: 23,565,289 (GRCm39) I196V possibly damaging Het
Zfp820 T C 17: 22,037,877 (GRCm39) I484V probably benign Het
Other mutations in Psme3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02474:Psme3 APN 11 101,208,480 (GRCm39) missense probably benign 0.09
IGL03380:Psme3 APN 11 101,210,852 (GRCm39) critical splice donor site probably null
R0432:Psme3 UTSW 11 101,211,268 (GRCm39) missense possibly damaging 0.84
R0545:Psme3 UTSW 11 101,210,730 (GRCm39) splice site probably benign
R0747:Psme3 UTSW 11 101,207,872 (GRCm39) missense probably benign 0.04
R4603:Psme3 UTSW 11 101,208,435 (GRCm39) splice site probably null
R4849:Psme3 UTSW 11 101,207,907 (GRCm39) missense probably benign 0.00
R8693:Psme3 UTSW 11 101,211,422 (GRCm39) missense probably damaging 0.98
R9235:Psme3 UTSW 11 101,211,594 (GRCm39) missense possibly damaging 0.95
R9322:Psme3 UTSW 11 101,211,437 (GRCm39) missense probably damaging 1.00
R9416:Psme3 UTSW 11 101,211,559 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGCCTTCCCAACTAGAATACAAG -3'
(R):5'- AGGATTTGCTAAGTGTTGACCTAGG -3'

Sequencing Primer
(F):5'- GAACCTCTTTTAAAAGCTGTCTGTG -3'
(R):5'- GGGAATTAAATTGGACCTTACCTCC -3'
Posted On 2015-04-17