Incidental Mutation 'R2288:Psma3'
ID 244187
Institutional Source Beutler Lab
Gene Symbol Psma3
Ensembl Gene ENSMUSG00000060073
Gene Name proteasome subunit alpha 3
Synonyms Lmpc8
MMRRC Submission 040287-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.943) question?
Stock # R2288 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 71021395-71043121 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 71041145 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 173 (D173E)
Ref Sequence ENSEMBL: ENSMUSP00000124894 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071704] [ENSMUST00000160027] [ENSMUST00000160864] [ENSMUST00000162626] [ENSMUST00000162851]
AlphaFold O70435
Predicted Effect probably benign
Transcript: ENSMUST00000071704
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127129
Predicted Effect possibly damaging
Transcript: ENSMUST00000160027
AA Change: D248E

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000125548
Gene: ENSMUSG00000060073
AA Change: D248E

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000160683
Predicted Effect possibly damaging
Transcript: ENSMUST00000160864
AA Change: D173E

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000124894
Gene: ENSMUSG00000060073
AA Change: D173E

DomainStartEndE-ValueType
Pfam:Proteasome 1 142 1.7e-38 PFAM
low complexity region 166 178 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162626
Predicted Effect probably benign
Transcript: ENSMUST00000162851
SMART Domains Protein: ENSMUSP00000124082
Gene: ENSMUSG00000060073

DomainStartEndE-ValueType
Proteasome_A_N 8 30 9.72e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162898
SMART Domains Protein: ENSMUSP00000125490
Gene: ENSMUSG00000060073

DomainStartEndE-ValueType
Pfam:Proteasome 1 53 3.3e-12 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
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 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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf4 T C 17: 42,978,402 (GRCm39) T314A probably benign Het
Ces2a T C 8: 105,464,069 (GRCm39) S234P probably damaging Het
Cfh A T 1: 140,026,639 (GRCm39) N571K possibly damaging Het
Clasp1 A G 1: 118,506,608 (GRCm39) I940V probably benign Het
Dapk1 T C 13: 60,909,563 (GRCm39) L1392S probably damaging Het
Fbxw19 T A 9: 109,322,636 (GRCm39) L111F probably damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Nek10 G T 14: 14,853,956 (GRCm38) E381* probably null Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or5m3b T A 2: 85,872,377 (GRCm39) C239* probably null Het
Peg3 T C 7: 6,712,114 (GRCm39) E1036G probably damaging Het
Pgap4 A T 4: 49,586,445 (GRCm39) L241Q probably damaging Het
Ptpn14 T C 1: 189,597,695 (GRCm39) L1135P probably damaging Het
Sfxn1 A G 13: 54,247,976 (GRCm39) I234V probably benign Het
Tcf20 A G 15: 82,735,886 (GRCm39) V1855A probably benign Het
Tctn3 A T 19: 40,594,157 (GRCm39) C419S probably damaging Het
Tlr3 T A 8: 45,850,705 (GRCm39) I207F probably damaging Het
Ubr1 T A 2: 120,739,963 (GRCm39) R992S probably damaging Het
V1ra8 T C 6: 90,180,024 (GRCm39) S76P probably damaging Het
Vnn3 A G 10: 23,740,354 (GRCm39) D219G probably benign Het
Zfp536 T A 7: 37,179,773 (GRCm39) D944V probably damaging Het
Zfp683 CGGG CCGGGGG 4: 133,783,381 (GRCm39) probably benign Het
Other mutations in Psma3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01898:Psma3 APN 12 71,031,448 (GRCm39) missense probably benign 0.17
R0316:Psma3 UTSW 12 71,030,163 (GRCm39) missense probably benign 0.01
R0669:Psma3 UTSW 12 71,035,269 (GRCm39) splice site probably benign
R1933:Psma3 UTSW 12 71,031,468 (GRCm39) missense probably benign 0.22
R3745:Psma3 UTSW 12 71,025,522 (GRCm39) missense possibly damaging 0.86
R4479:Psma3 UTSW 12 71,031,555 (GRCm39) unclassified probably benign
R5260:Psma3 UTSW 12 71,031,416 (GRCm39) unclassified probably benign
R5384:Psma3 UTSW 12 71,021,539 (GRCm39) missense probably damaging 1.00
R5457:Psma3 UTSW 12 71,031,339 (GRCm39) missense probably benign
R5794:Psma3 UTSW 12 71,037,271 (GRCm39) missense probably benign 0.00
R8348:Psma3 UTSW 12 71,035,250 (GRCm39) missense probably damaging 1.00
R8448:Psma3 UTSW 12 71,035,250 (GRCm39) missense probably damaging 1.00
R8814:Psma3 UTSW 12 71,025,580 (GRCm39) missense probably benign 0.17
R9275:Psma3 UTSW 12 71,041,156 (GRCm39) missense probably benign 0.04
R9278:Psma3 UTSW 12 71,041,156 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- TCCAGGACATTTAATGCTTTTATCC -3'
(R):5'- CCTTAACTCTGGGCACTGC -3'

Sequencing Primer
(F):5'- AGGACAATATAGACTTATTGGG -3'
(R):5'- TTGAACCTATGTCCCCTGGAAGAG -3'
Posted On 2014-10-30