Incidental Mutation 'R8448:Psma3'
ID 654621
Institutional Source Beutler Lab
Gene Symbol Psma3
Ensembl Gene ENSMUSG00000060073
Gene Name proteasome subunit alpha 3
Synonyms Lmpc8
MMRRC Submission 067828-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.943) question?
Stock # R8448 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 71021395-71043121 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 71035250 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Arginine at position 177 (I177R)
Ref Sequence ENSEMBL: ENSMUSP00000125548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071704] [ENSMUST00000160027] [ENSMUST00000160864] [ENSMUST00000162626] [ENSMUST00000162851]
AlphaFold O70435
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: ENSMUST00000071704
Predicted Effect probably damaging
Transcript: ENSMUST00000160027
AA Change: I177R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125548
Gene: ENSMUSG00000060073
AA Change: I177R

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 probably damaging
Transcript: ENSMUST00000160864
AA Change: I102R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124894
Gene: ENSMUSG00000060073
AA Change: I102R

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 null
Transcript: ENSMUST00000162851
AA Change: *53E
SMART Domains Protein: ENSMUSP00000124082
Gene: ENSMUSG00000060073
AA Change: *53E

DomainStartEndE-ValueType
Proteasome_A_N 8 30 9.72e-9 SMART
Predicted Effect
SMART Domains Protein: ENSMUSP00000125490
Gene: ENSMUSG00000060073
AA Change: I32R

DomainStartEndE-ValueType
Pfam:Proteasome 1 53 3.3e-12 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik T C 4: 62,461,022 (GRCm39) probably null Het
Adamts6 T A 13: 104,616,027 (GRCm39) C1030S probably damaging Het
Adamtsl3 C A 7: 82,253,007 (GRCm39) T1527K possibly damaging Het
Akap9 G A 5: 3,998,897 (GRCm39) probably null Het
Ankle2 C A 5: 110,389,909 (GRCm39) P457T possibly damaging Het
Ankrd7 A G 6: 18,868,007 (GRCm39) N91S probably damaging Het
Ascc3 C A 10: 50,494,173 (GRCm39) Q203K probably benign Het
Baz2b A T 2: 59,742,137 (GRCm39) D61E Het
Bmpr1a T A 14: 34,136,759 (GRCm39) K477N probably benign Het
Cacna1d T C 14: 29,824,364 (GRCm39) I1040V probably damaging Het
Castor2 T C 5: 134,166,955 (GRCm39) F304L possibly damaging Het
Cdkn2a C A 4: 89,200,291 (GRCm39) V20L possibly damaging Het
Chd5 A G 4: 152,445,173 (GRCm39) S385G probably damaging Het
Cntrob A G 11: 69,190,679 (GRCm39) F46L unknown Het
Cth T C 3: 157,630,657 (GRCm39) D4G probably benign Het
Cyld C T 8: 89,456,197 (GRCm39) H416Y probably damaging Het
Dennd6a C A 14: 26,328,098 (GRCm39) H264Q possibly damaging Het
Dnah1 T C 14: 31,015,682 (GRCm39) Y1672C probably damaging Het
Dnah8 A G 17: 30,892,814 (GRCm39) I800V probably benign Het
Esrp2 A G 8: 106,858,853 (GRCm39) Y595H probably damaging Het
F12 T A 13: 55,566,301 (GRCm39) Y497F probably benign Het
Fggy A G 4: 95,732,427 (GRCm39) T473A probably benign Het
Garre1 A T 7: 33,984,569 (GRCm39) L18Q probably damaging Het
Gstt2 C A 10: 75,668,526 (GRCm39) R107L probably damaging Het
Hectd4 A T 5: 121,358,319 (GRCm39) probably benign Het
Helb A G 10: 119,938,791 (GRCm39) F561S probably damaging Het
Ints2 T C 11: 86,146,249 (GRCm39) T120A probably benign Het
Kdm5d G A Y: 914,056 (GRCm39) R331H probably benign Het
Krt6b A G 15: 101,586,455 (GRCm39) Y345H probably damaging Het
Limch1 A G 5: 67,159,825 (GRCm39) K418E probably damaging Het
Lrrc37 T A 11: 103,511,726 (GRCm39) T81S unknown Het
Med17 C T 9: 15,173,735 (GRCm39) probably null Het
Met A T 6: 17,571,799 (GRCm39) I1373F probably benign Het
Naip6 T A 13: 100,436,894 (GRCm39) Q543L possibly damaging Het
Nat9 T C 11: 115,075,902 (GRCm39) T40A probably damaging Het
Notch4 A T 17: 34,805,763 (GRCm39) probably null Het
Ogdh A G 11: 6,292,619 (GRCm39) N455S probably damaging Het
Or52k2 C A 7: 102,254,207 (GRCm39) F215L probably benign Het
Pde4a T C 9: 21,117,534 (GRCm39) F599L probably benign Het
Pga5 T C 19: 10,649,173 (GRCm39) Y249C probably damaging Het
Plekha8 A T 6: 54,607,539 (GRCm39) K382M probably damaging Het
Plekhd1 A T 12: 80,753,149 (GRCm39) E119V probably damaging Het
Pnp A T 14: 51,185,356 (GRCm39) H20L probably benign Het
Polq A T 16: 36,837,559 (GRCm39) probably null Het
Ptpn3 A G 4: 57,240,784 (GRCm39) probably null Het
Ptprt A T 2: 161,400,806 (GRCm39) L1077Q probably damaging Het
Ralgps2 A T 1: 156,651,744 (GRCm39) probably null Het
Rbm47 A T 5: 66,184,573 (GRCm39) M10K possibly damaging Het
Rere A G 4: 150,703,653 (GRCm39) D186G probably damaging Het
Rpl24 T C 16: 55,787,453 (GRCm39) S38P probably damaging Het
Slco1a1 A T 6: 141,885,787 (GRCm39) F79L possibly damaging Het
Sorl1 T A 9: 41,903,041 (GRCm39) D1551V probably benign Het
Sos1 C A 17: 80,741,548 (GRCm39) M412I probably benign Het
Spast G A 17: 74,666,293 (GRCm39) V209I probably benign Het
Spindoc G T 19: 7,335,769 (GRCm39) Q340K possibly damaging Het
Tlr6 T C 5: 65,111,185 (GRCm39) Y574C probably damaging Het
Tnrc6a A G 7: 122,791,346 (GRCm39) N1748S possibly damaging Het
Trbv13-2 A T 6: 41,098,474 (GRCm39) K16N probably benign Het
Triobp C T 15: 78,878,326 (GRCm39) H1750Y possibly damaging Het
Usp24 A G 4: 106,225,933 (GRCm39) D659G possibly damaging Het
Vmn2r88 T A 14: 51,656,253 (GRCm39) C821S probably damaging Het
Whamm T A 7: 81,224,295 (GRCm39) V197D probably damaging Het
Zfp777 A G 6: 48,006,101 (GRCm39) F431S probably damaging 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
R2288:Psma3 UTSW 12 71,041,145 (GRCm39) missense possibly damaging 0.70
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
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'- AAGTTCATGTGAATGTATCTGGCTG -3'
(R):5'- AGCTGAACATCTGGCTCATG -3'

Sequencing Primer
(F):5'- TGGCTGGCCTCCAAATCACAG -3'
(R):5'- GATCTCACTGTATAGTCCAGACTGG -3'
Posted On 2020-10-20