Incidental Mutation 'R7121:Psma2'
ID 552030
Institutional Source Beutler Lab
Gene Symbol Psma2
Ensembl Gene ENSMUSG00000015671
Gene Name proteasome (prosome, macropain) subunit, alpha type 2
Synonyms Lmpc3
MMRRC Submission 045210-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.501) question?
Stock # R7121 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 14613240-14674236 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 14625230 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 186 (D186E)
Ref Sequence ENSEMBL: ENSMUSP00000129767 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170836] [ENSMUST00000178289] [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 benign
Transcript: ENSMUST00000170836
AA Change: D186E

PolyPhen 2 Score 0.388 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000129767
Gene: ENSMUSG00000015671
AA Change: D186E

Proteasome_A_N 6 28 1.73e-5 SMART
Pfam:Proteasome 29 213 1.2e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178289
SMART Domains Protein: ENSMUSP00000136376
Gene: ENSMUSG00000039182

Pfam:DUF1308 37 401 1.1e-121 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000221168
AA Change: D135E

PolyPhen 2 Score 0.388 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (71/72)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933411K16Rik C T 19: 42,052,673 (GRCm38) A81V probably benign Het
Abcc9 A T 6: 142,689,127 (GRCm38) L137* probably null Het
Akap10 A G 11: 61,886,698 (GRCm38) probably null Het
Alms1 T A 6: 85,624,622 (GRCm38) Y1683N probably damaging Het
Atl1 A G 12: 69,931,634 (GRCm38) S127G probably damaging Het
Cadm1 G A 9: 47,799,410 (GRCm38) V204M probably damaging Het
Cbr3 T A 16: 93,690,550 (GRCm38) I207N probably damaging Het
Ccdc148 A T 2: 58,827,567 (GRCm38) Y475N probably damaging Het
Ccdc33 A T 9: 58,080,884 (GRCm38) S144T probably benign Het
Ceacam5 C A 7: 17,745,537 (GRCm38) A193E probably benign Het
Chd2 T C 7: 73,469,670 (GRCm38) D1042G probably benign Het
Chmp5 A T 4: 40,952,217 (GRCm38) probably null Het
Clca1 T A 3: 145,011,806 (GRCm38) N467I probably damaging Het
D130040H23Rik T C 8: 69,302,279 (GRCm38) V112A probably damaging Het
Dbh A T 2: 27,168,306 (GRCm38) D162V probably damaging Het
Dnah12 G A 14: 26,778,912 (GRCm38) probably null Het
Dnm2 C T 9: 21,474,566 (GRCm38) T295I probably benign Het
Faiml A C 9: 99,234,393 (GRCm38) D81E probably benign Het
Fer1l4 T A 2: 156,044,557 (GRCm38) Y720F probably benign Het
Fn1 A C 1: 71,600,538 (GRCm38) probably benign Het
Ftsj3 T C 11: 106,252,297 (GRCm38) E397G probably damaging Het
Gm16506 T C 14: 43,727,360 (GRCm38) K42E Het
Gpr179 A G 11: 97,334,730 (GRCm38) S2200P probably benign Het
Gusb T C 5: 130,000,043 (GRCm38) D202G probably benign Het
Hspe1 A G 1: 55,089,151 (GRCm38) E35G probably damaging Het
Kptn T A 7: 16,123,098 (GRCm38) H170Q probably damaging Het
Lama3 G A 18: 12,462,782 (GRCm38) A923T probably benign Het
Lmo7 T A 14: 101,887,035 (GRCm38) I432K probably damaging Het
Maneal G A 4: 124,857,112 (GRCm38) P284S probably benign Het
Mrgbp A G 2: 180,582,889 (GRCm38) T28A probably benign Het
Myo1h T C 5: 114,338,229 (GRCm38) V493A Het
Naxd T C 8: 11,506,745 (GRCm38) L122P probably damaging Het
Neto2 T C 8: 85,670,391 (GRCm38) probably null Het
Obscn T A 11: 59,013,252 (GRCm38) R7299* probably null Het
Odf2l G A 3: 145,139,820 (GRCm38) V363I possibly damaging Het
Olfr117 T C 17: 37,659,808 (GRCm38) H175R probably damaging Het
Olfr1186 A T 2: 88,525,826 (GRCm38) D81V probably damaging Het
Olfr1458 T A 19: 13,103,173 (GRCm38) I44F probably benign Het
Olfr69 A T 7: 103,767,733 (GRCm38) Y221* probably null Het
Olfr721-ps1 A G 14: 14,407,998 (GRCm38) T257A possibly damaging Het
Otud3 G A 4: 138,896,756 (GRCm38) P325L probably benign Het
Palb2 T C 7: 122,124,834 (GRCm38) N564S probably benign Het
Pcnt A G 10: 76,427,927 (GRCm38) V401A possibly damaging Het
Plcd4 G A 1: 74,565,365 (GRCm38) E767K probably benign Het
Ppp3ca T C 3: 136,868,626 (GRCm38) F95S probably damaging Het
Prkar2a A G 9: 108,692,622 (GRCm38) T56A probably benign Het
Psmd11 T A 11: 80,438,273 (GRCm38) Y72* probably null Het
Ror1 G A 4: 100,302,945 (GRCm38) D53N probably benign Het
Rubcn C T 16: 32,836,469 (GRCm38) R527Q probably damaging Het
Sgca G A 11: 94,969,547 (GRCm38) P255S possibly damaging Het
Skint11 A T 4: 114,227,796 (GRCm38) R167S probably benign Het
Slco5a1 A G 1: 12,990,437 (GRCm38) V20A probably benign Het
Snai2 T C 16: 14,707,106 (GRCm38) S159P probably benign Het
Taar2 T G 10: 23,940,827 (GRCm38) S88R probably damaging Het
Tacc3 T A 5: 33,667,165 (GRCm38) N378K possibly damaging Het
Tek A G 4: 94,811,410 (GRCm38) K342E probably benign Het
Tm9sf3 G T 19: 41,245,505 (GRCm38) S198* probably null Het
Tmbim4 T A 10: 120,215,609 (GRCm38) F56I possibly damaging Het
Tsen34 T A 7: 3,694,987 (GRCm38) S85T probably benign Het
Ttc27 C A 17: 74,747,715 (GRCm38) Q339K probably benign Het
Ubap2 G T 4: 41,205,550 (GRCm38) P636T probably benign Het
Ubr1 G A 2: 120,875,498 (GRCm38) L1495F probably benign Het
Vsig10 T C 5: 117,343,902 (GRCm38) S386P probably damaging Het
Wnk2 C A 13: 49,147,177 (GRCm38) R19L probably benign Het
Wsb2 T C 5: 117,370,879 (GRCm38) L126P probably damaging Het
Xylb A G 9: 119,382,292 (GRCm38) I402V probably benign Het
Yrdc A G 4: 124,850,955 (GRCm38) S61G probably benign Het
Zbtb3 A G 19: 8,803,407 (GRCm38) D128G probably damaging Het
Zfp423 C T 8: 87,780,861 (GRCm38) G952R probably damaging Het
Zfp646 A G 7: 127,879,772 (GRCm38) T374A possibly damaging Het
Other mutations in Psma2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01963:Psma2 APN 13 14,619,363 (GRCm38) missense probably damaging 0.98
IGL02001:Psma2 APN 13 14,623,607 (GRCm38) missense possibly damaging 0.90
R1245:Psma2 UTSW 13 14,613,291 (GRCm38) missense probably damaging 1.00
R1801:Psma2 UTSW 13 14,623,605 (GRCm38) missense probably benign 0.00
R3428:Psma2 UTSW 13 14,616,777 (GRCm38) missense probably benign 0.03
R4551:Psma2 UTSW 13 14,616,845 (GRCm38) missense possibly damaging 0.69
R5068:Psma2 UTSW 13 14,616,028 (GRCm38) missense probably benign 0.11
R5069:Psma2 UTSW 13 14,616,028 (GRCm38) missense probably benign 0.11
R5070:Psma2 UTSW 13 14,616,028 (GRCm38) missense probably benign 0.11
R5324:Psma2 UTSW 13 14,625,217 (GRCm38) missense probably damaging 1.00
R7853:Psma2 UTSW 13 14,625,247 (GRCm38) missense probably damaging 0.98
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-05-15