Incidental Mutation 'R1245:Psma2'
ID 152136
Institutional Source Beutler Lab
Gene Symbol Psma2
Ensembl Gene ENSMUSG00000015671
Gene Name proteasome subunit alpha 2
Synonyms Lmpc3
MMRRC Submission 039312-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.431) question?
Stock # R1245 (G1)
Quality Score 223
Status Validated
Chromosome 13
Chromosomal Location 14787827-14800258 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 14787876 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 6 (Y6C)
Ref Sequence ENSEMBL: ENSMUSP00000129767 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015816] [ENSMUST00000170836] [ENSMUST00000220621] [ENSMUST00000221168] [ENSMUST00000221699]
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 benign
Transcript: ENSMUST00000015816
SMART Domains Protein: ENSMUSP00000015816
Gene: ENSMUSG00000015672

DomainStartEndE-ValueType
low complexity region 3 11 N/A INTRINSIC
low complexity region 25 32 N/A INTRINSIC
Pfam:Ribosomal_L32p 78 135 7.8e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000170836
AA Change: Y6C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129767
Gene: ENSMUSG00000015671
AA Change: Y6C

DomainStartEndE-ValueType
Proteasome_A_N 6 28 1.73e-5 SMART
Pfam:Proteasome 29 213 1.2e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000220621
Predicted Effect probably benign
Transcript: ENSMUST00000221168
Predicted Effect probably benign
Transcript: ENSMUST00000221699
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223530
Meta Mutation Damage Score 0.9198 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.5%
Validation Efficiency 98% (41/42)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 T A 11: 7,119,410 (GRCm39) probably benign Het
Ahnak A G 19: 8,981,533 (GRCm39) N939S probably benign Het
Cblb C A 16: 51,867,550 (GRCm39) probably benign Het
Cd22 A G 7: 30,569,308 (GRCm39) S603P probably damaging Het
Col6a6 G A 9: 105,626,109 (GRCm39) R1515C possibly damaging Het
Csf1r C A 18: 61,247,884 (GRCm39) D317E probably benign Het
Dlg2 T C 7: 92,091,803 (GRCm39) probably benign Het
Enpp3 G A 10: 24,660,851 (GRCm39) probably benign Het
G530012D18Rik CAGAGAGA CAGAGAGAGA 1: 85,504,945 (GRCm39) probably null Het
Gm5828 A T 1: 16,839,353 (GRCm39) noncoding transcript Het
Gpr137c T C 14: 45,516,522 (GRCm39) probably benign Het
Ibtk A G 9: 85,602,795 (GRCm39) probably null Het
Kctd7 A G 5: 130,177,058 (GRCm39) H96R possibly damaging Het
Lmcd1 T A 6: 112,292,673 (GRCm39) V175E probably benign Het
Lrfn2 A T 17: 49,403,277 (GRCm39) probably null Het
Ltbp1 C T 17: 75,634,189 (GRCm39) probably benign Het
Myc A G 15: 61,859,746 (GRCm39) I140V probably damaging Het
Nckap1l A G 15: 103,364,352 (GRCm39) E100G probably damaging Het
Ncs1 A G 2: 31,174,705 (GRCm39) N143S probably benign Het
Nmnat2 A G 1: 152,987,949 (GRCm39) D238G probably benign Het
Or10ag57 T A 2: 87,218,553 (GRCm39) V168E probably benign Het
Ppp2r3d G A 9: 101,071,593 (GRCm39) T675I probably damaging Het
Rspo4 G A 2: 151,709,846 (GRCm39) E84K probably damaging Het
Shank2 G A 7: 143,965,457 (GRCm39) V1015I probably benign Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Smg8 T C 11: 86,974,436 (GRCm39) D632G possibly damaging Het
Sppl2a A T 2: 126,755,441 (GRCm39) probably benign Het
Svep1 A G 4: 58,066,427 (GRCm39) probably null Het
Ttn T A 2: 76,776,044 (GRCm39) K1666M probably damaging Het
Ulk1 A G 5: 110,937,206 (GRCm39) probably null Het
Unc80 A G 1: 66,594,254 (GRCm39) D1211G possibly damaging Het
Vmn2r112 A G 17: 22,822,228 (GRCm39) Q302R probably benign Het
Vmn2r6 A G 3: 64,464,211 (GRCm39) S208P possibly damaging Het
Wnk1 C T 6: 119,925,418 (GRCm39) V1847I probably benign Het
Zfp653 A T 9: 21,967,718 (GRCm39) I529N probably damaging Het
Zfp948 T C 17: 21,807,104 (GRCm39) S99P probably damaging Het
Zfyve9 A G 4: 108,550,508 (GRCm39) probably benign Het
Zscan29 T C 2: 120,996,984 (GRCm39) T246A probably damaging Het
Other mutations in Psma2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01963:Psma2 APN 13 14,793,948 (GRCm39) missense probably damaging 0.98
IGL02001:Psma2 APN 13 14,798,192 (GRCm39) missense possibly damaging 0.90
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
Predicted Primers PCR Primer
(F):5'- ATGCGTTAAGTCCGCCCACTTC -3'
(R):5'- ACGGAACATGACTCTGCAAAGCTAC -3'

Sequencing Primer
(F):5'- CGCCTCCTCGCTCAGAG -3'
(R):5'- TCTGCAAAGCTACGAGTCCAG -3'
Posted On 2014-01-29