Incidental Mutation 'R8814:Psma3'
ID 672624
Institutional Source Beutler Lab
Gene Symbol Psma3
Ensembl Gene ENSMUSG00000060073
Gene Name proteasome (prosome, macropain) subunit, alpha type 3
Synonyms Lmpc8
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.942) question?
Stock # R8814 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 70974621-70996347 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70978806 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 32 (E32G)
Ref Sequence ENSEMBL: ENSMUSP00000125548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071704] [ENSMUST00000160027] [ENSMUST00000160864] [ENSMUST00000162626] [ENSMUST00000162851]
AlphaFold O70435
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 possibly damaging
Transcript: ENSMUST00000071704
AA Change: E32G

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000160027
AA Change: E32G

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000125548
Gene: ENSMUSG00000060073
AA Change: E32G

Proteasome_A_N 8 30 9.72e-9 SMART
Pfam:Proteasome 31 217 6.2e-53 PFAM
low complexity region 241 253 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160864
SMART Domains Protein: ENSMUSP00000124894
Gene: ENSMUSG00000060073

Pfam:Proteasome 1 142 1.7e-38 PFAM
low complexity region 166 178 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162626
AA Change: E32G

PolyPhen 2 Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect possibly damaging
Transcript: ENSMUST00000162851
AA Change: E32G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000124082
Gene: ENSMUSG00000060073
AA Change: E32G

Proteasome_A_N 8 30 9.72e-9 SMART
Meta Mutation Damage Score 0.2670 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (51/51)
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 peptidase T1A family, that is a 20S core alpha subunit. Two alternative transcripts encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4922502D21Rik T C 6: 129,325,604 probably benign Het
Brd7 A G 8: 88,345,154 V361A probably benign Het
C6 A T 15: 4,792,784 Q595L probably benign Het
Cacna2d3 T A 14: 29,097,815 Y532F probably damaging Het
Cep85l A T 10: 53,348,969 Y175N probably benign Het
Clca3a2 G T 3: 144,797,764 N808K probably benign Het
Cpsf4 T G 5: 145,178,868 S201R probably benign Het
Crispld2 A G 8: 120,015,345 H144R possibly damaging Het
Cyp1b1 T C 17: 79,713,359 E318G probably benign Het
Fam109a G T 5: 121,853,045 V157L probably benign Het
Fer1l4 A G 2: 156,052,243 F47L probably benign Het
Flnb A G 14: 7,927,409 D1873G probably damaging Het
Gm47995 A G 1: 151,198,988 M181V probably benign Het
Hace1 A G 10: 45,652,701 Y346C probably damaging Het
Hemgn G T 4: 46,400,717 Q48K possibly damaging Het
Hhip T C 8: 80,051,472 D143G probably damaging Het
Ift74 C T 4: 94,662,636 Q342* probably null Het
Kng2 A T 16: 23,004,011 I197N probably benign Het
Lcat G A 8: 105,941,970 P167S probably damaging Het
Lmntd2 G A 7: 141,210,084 R672W probably damaging Het
Mroh2b G T 15: 4,941,625 L1037F possibly damaging Het
Msh4 A G 3: 153,872,320 S640P probably damaging Het
Mterf1b T C 5: 4,197,456 S366P probably damaging Het
Nrxn1 A T 17: 90,630,101 C643S probably damaging Het
Olfr1164 T A 2: 88,092,971 I322F probably benign Het
Olfr1496 T A 19: 13,781,533 I305N possibly damaging Het
Olfr485 T A 7: 108,159,065 K269N probably benign Het
Olfr605 A G 7: 103,442,913 V70A probably benign Het
Olfr709-ps1 T A 7: 106,926,818 I214F probably damaging Het
Pask C A 1: 93,320,585 R998L probably benign Het
Pcdh8 A G 14: 79,768,897 L742P probably benign Het
Samd11 T C 4: 156,247,884 E500G probably benign Het
Scarb1 A T 5: 125,294,092 D305E probably benign Het
Serpinb6b A G 13: 32,978,304 H362R possibly damaging Het
Siglec1 G A 2: 131,072,744 T1484M probably damaging Het
Slfn8 A G 11: 83,016,679 V346A possibly damaging Het
Slitrk6 G C 14: 110,749,938 A779G probably benign Het
Soga1 C T 2: 157,030,531 W965* probably null Het
Sub1 A C 15: 11,984,231 V124G probably damaging Het
Tbc1d32 A G 10: 56,196,592 I277T possibly damaging Het
Tln2 C A 9: 67,221,411 E1465D possibly damaging Het
Trappc10 A G 10: 78,202,919 Y780H probably damaging Het
Trim28 T A 7: 13,028,527 N359K probably damaging Het
Tspan15 G A 10: 62,188,056 T281M probably benign Het
Uaca A G 9: 60,866,398 N396D possibly damaging Het
Vmn1r84 A G 7: 12,362,458 S103P probably damaging Het
Vmn2r22 C G 6: 123,637,830 R267T probably damaging Het
Vmn2r7 A G 3: 64,716,563 I112T probably benign Het
Vmn2r70 T A 7: 85,565,961 I122F probably benign Het
Vmn2r79 C G 7: 87,002,506 T371S probably benign Het
Vps8 T C 16: 21,576,650 L1230P probably damaging Het
Zfp26 A T 9: 20,438,434 V278D probably benign Het
Other mutations in Psma3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01898:Psma3 APN 12 70984674 missense probably benign 0.17
R0316:Psma3 UTSW 12 70983389 missense probably benign 0.01
R0669:Psma3 UTSW 12 70988495 splice site probably benign
R1933:Psma3 UTSW 12 70984694 missense probably benign 0.22
R2288:Psma3 UTSW 12 70994371 missense possibly damaging 0.70
R3745:Psma3 UTSW 12 70978748 missense possibly damaging 0.86
R4479:Psma3 UTSW 12 70984781 unclassified probably benign
R5260:Psma3 UTSW 12 70984642 unclassified probably benign
R5384:Psma3 UTSW 12 70974765 missense probably damaging 1.00
R5457:Psma3 UTSW 12 70984565 missense probably benign
R5794:Psma3 UTSW 12 70990497 missense probably benign 0.00
R8348:Psma3 UTSW 12 70988476 missense probably damaging 1.00
R8448:Psma3 UTSW 12 70988476 missense probably damaging 1.00
R9275:Psma3 UTSW 12 70994382 missense probably benign 0.04
R9278:Psma3 UTSW 12 70994382 missense probably benign 0.04
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2021-04-30