Incidental Mutation 'R3428:Psma2'
ID 267969
Institutional Source Beutler Lab
Gene Symbol Psma2
Ensembl Gene ENSMUSG00000015671
Gene Name proteasome subunit alpha 2
Synonyms Lmpc3
MMRRC Submission 040646-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.439) question?
Stock # R3428 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 14787827-14800258 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 14791362 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 2 (K2N)
Ref Sequence ENSEMBL: ENSMUSP00000152327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015816] [ENSMUST00000170836] [ENSMUST00000220621] [ENSMUST00000221168] [ENSMUST00000221699]
AlphaFold P49722
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 benign
Transcript: ENSMUST00000170836
AA Change: K53N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000129767
Gene: ENSMUSG00000015671
AA Change: K53N

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
AA Change: K2N

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000221699
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223530
Meta Mutation Damage Score 0.0765 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (34/34)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 C A 8: 25,157,620 (GRCm39) C110F probably damaging Het
Adamts14 C T 10: 61,060,153 (GRCm39) E452K probably benign Het
Adrb3 T C 8: 27,718,209 (GRCm39) D80G probably damaging Het
Alg5 T A 3: 54,643,006 (GRCm39) M1K probably null Het
Ap1g1 A G 8: 110,570,080 (GRCm39) E398G probably damaging Het
Arhgap17 A T 7: 122,922,854 (GRCm39) L85Q probably damaging Het
Bbs9 T A 9: 22,479,183 (GRCm39) probably benign Het
BC034090 T C 1: 155,117,244 (GRCm39) I291M probably benign Het
Bicd1 T C 6: 149,414,400 (GRCm39) L371P probably damaging Het
Cand2 A C 6: 115,766,668 (GRCm39) R424S probably benign Het
Eng G T 2: 32,547,545 (GRCm39) V29F probably damaging Het
Gm5828 T A 1: 16,838,838 (GRCm39) noncoding transcript Het
Hspg2 T C 4: 137,282,601 (GRCm39) L3447P probably damaging Het
Igtp G A 11: 58,097,419 (GRCm39) V197I probably damaging Het
Kmt2a T A 9: 44,759,416 (GRCm39) N844I probably benign Het
Lyzl4 T C 9: 121,413,195 (GRCm39) I78V probably null Het
Mtg2 A G 2: 179,726,065 (GRCm39) H225R possibly damaging Het
Or10a5 G A 7: 106,635,923 (GRCm39) R187K probably benign Het
Pfpl T A 19: 12,407,677 (GRCm39) S643T probably benign Het
Prelid1 T G 13: 55,470,007 (GRCm39) V2G probably benign Het
Sec24d C T 3: 123,137,572 (GRCm39) probably benign Het
Setd1a G T 7: 127,384,493 (GRCm39) probably benign Het
Slc20a1 A T 2: 129,042,202 (GRCm39) N149I probably benign Het
Slc22a5 A G 11: 53,760,152 (GRCm39) V388A probably benign Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trav6-7-dv9 A G 14: 53,947,788 (GRCm39) T97A probably benign Het
Trpv3 A T 11: 73,176,767 (GRCm39) Y382F probably damaging Het
Ubr2 T C 17: 47,279,365 (GRCm39) Y681C probably damaging Het
Unc80 G A 1: 66,678,464 (GRCm39) V2082I probably benign Het
Vmn2r125 A G 4: 156,702,436 (GRCm39) D74G probably benign Het
Yipf2 T C 9: 21,500,941 (GRCm39) probably benign 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
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
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'- TAATGCCTGCAGCTATGGGG -3'
(R):5'- AACTTAGCTGTCGTCAGGC -3'

Sequencing Primer
(F):5'- CCTGCAGCTATGGGGATTTTAC -3'
(R):5'- GGCTGCCATGACTCTGAAAC -3'
Posted On 2015-02-18