Incidental Mutation 'IGL01963:Psma2'
ID 182468
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psma2
Ensembl Gene ENSMUSG00000015671
Gene Name proteasome subunit alpha 2
Synonyms Lmpc3
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.431) question?
Stock # IGL01963
Quality Score
Status
Chromosome 13
Chromosomal Location 14787827-14800258 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 14793948 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 105 (I105F)
Ref Sequence ENSEMBL: ENSMUSP00000129767 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170836] [ENSMUST00000221168]
AlphaFold P49722
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 probably damaging
Transcript: ENSMUST00000170836
AA Change: I105F

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000129767
Gene: ENSMUSG00000015671
AA Change: I105F

DomainStartEndE-ValueType
Proteasome_A_N 6 28 1.73e-5 SMART
Pfam:Proteasome 29 213 1.2e-61 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000221168
AA Change: I54F

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
Coding Region Coverage
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. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610042L04Rik G A 14: 4,350,856 (GRCm38) G130D probably damaging Het
Abca8b T A 11: 109,862,589 (GRCm39) D392V probably damaging Het
Cep43 A T 17: 8,411,109 (GRCm39) D354V probably damaging Het
Clptm1l T A 13: 73,765,688 (GRCm39) probably benign Het
Creb3l1 G A 2: 91,823,678 (GRCm39) T178I probably benign Het
Ctsd A G 7: 141,930,336 (GRCm39) probably null Het
Dcstamp A T 15: 39,623,755 (GRCm39) I401F possibly damaging Het
Dnah5 A G 15: 28,370,682 (GRCm39) D2874G probably benign Het
Fcsk A G 8: 111,620,034 (GRCm39) F281S probably damaging Het
Fli1 T A 9: 32,335,503 (GRCm39) K310* probably null Het
Fndc4 C T 5: 31,452,556 (GRCm39) probably null Het
Gc G A 5: 89,569,981 (GRCm39) probably benign Het
Krtap26-1 A G 16: 88,444,556 (GRCm39) C22R probably damaging Het
Obscn C T 11: 58,911,367 (GRCm39) G6422S probably benign Het
Or10d5 C A 9: 39,861,536 (GRCm39) C177F probably damaging Het
Or10j2 T A 1: 173,097,919 (GRCm39) M59K probably damaging Het
Or5b21 T A 19: 12,839,746 (GRCm39) F202L probably benign Het
Pgr C T 9: 8,922,669 (GRCm39) P613L probably damaging Het
Pnpla8 C A 12: 44,342,816 (GRCm39) A524E possibly damaging Het
Ptprg A G 14: 12,220,661 (GRCm38) R458G probably damaging Het
Rbm44 A G 1: 91,090,830 (GRCm39) I755V probably benign Het
Rev3l A G 10: 39,698,733 (GRCm39) K1077E possibly damaging Het
Rps20 A C 4: 3,834,494 (GRCm39) probably benign Het
Sel1l3 A C 5: 53,357,680 (GRCm39) V104G probably damaging Het
Sirpb1c T C 3: 15,892,937 (GRCm39) N89S probably benign Het
Slc25a16 G A 10: 62,766,220 (GRCm39) probably null Het
Sulf1 C T 1: 12,888,731 (GRCm39) R339C probably damaging Het
Tedc2 C T 17: 24,436,926 (GRCm39) A270T probably benign Het
Trem3 T C 17: 48,554,880 (GRCm39) S2P possibly damaging Het
Vps37a G T 8: 40,993,771 (GRCm39) Q255H probably damaging Het
Zfp352 C T 4: 90,112,391 (GRCm39) A177V possibly damaging Het
Other mutations in Psma2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02001:Psma2 APN 13 14,798,192 (GRCm39) missense possibly damaging 0.90
R1245:Psma2 UTSW 13 14,787,876 (GRCm39) missense probably damaging 1.00
R1801:Psma2 UTSW 13 14,798,190 (GRCm39) missense probably benign 0.00
R3428:Psma2 UTSW 13 14,791,362 (GRCm39) missense probably benign 0.03
R4551:Psma2 UTSW 13 14,791,430 (GRCm39) missense possibly damaging 0.69
R5068:Psma2 UTSW 13 14,790,613 (GRCm39) missense probably benign 0.11
R5069:Psma2 UTSW 13 14,790,613 (GRCm39) missense probably benign 0.11
R5070:Psma2 UTSW 13 14,790,613 (GRCm39) missense probably benign 0.11
R5324:Psma2 UTSW 13 14,799,802 (GRCm39) missense probably damaging 1.00
R7121:Psma2 UTSW 13 14,799,815 (GRCm39) missense probably benign 0.39
R7853:Psma2 UTSW 13 14,799,832 (GRCm39) missense probably damaging 0.98
Posted On 2014-05-07