Incidental Mutation 'R5081:Psmd2'
ID 387152
Institutional Source Beutler Lab
Gene Symbol Psmd2
Ensembl Gene ENSMUSG00000006998
Gene Name proteasome (prosome, macropain) 26S subunit, non-ATPase, 2
Synonyms TEG-190, Tex190, 9430095H01Rik
MMRRC Submission 042670-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R5081 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 20470402-20482164 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 20480405 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 709 (T709A)
Ref Sequence ENSEMBL: ENSMUSP00000007212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007212] [ENSMUST00000172207]
AlphaFold Q8VDM4
Predicted Effect probably benign
Transcript: ENSMUST00000007212
AA Change: T709A

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000007212
Gene: ENSMUSG00000006998
AA Change: T709A

DomainStartEndE-ValueType
Pfam:PC_rep 443 479 3.7e-9 PFAM
Pfam:PC_rep 480 514 1.3e-8 PFAM
low complexity region 571 581 N/A INTRINSIC
SCOP:d1gw5b_ 617 773 1e-8 SMART
PDB:4CR4|Z 653 906 3e-57 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166071
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166453
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167869
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169184
Predicted Effect probably benign
Transcript: ENSMUST00000172207
Predicted Effect probably benign
Transcript: ENSMUST00000231897
Predicted Effect probably benign
Transcript: ENSMUST00000232513
Meta Mutation Damage Score 0.5192 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency 93% (65/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core 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. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase 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 one of the non-ATPase subunits of the 19S regulator lid. In addition to participation in proteasome function, this subunit may also participate in the TNF signalling pathway since it interacts with the tumor necrosis factor type 1 receptor. A pseudogene has been identified on chromosome 1. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl5 G A 5: 31,060,403 (GRCm39) R141Q probably damaging Het
AI593442 TGAGGAGGAGGAGGAGGA TGAGGAGGAGGAGGA 9: 52,589,114 (GRCm39) probably benign Het
Aig1 A G 10: 13,677,644 (GRCm39) I116T probably benign Het
Alox12 A T 11: 70,146,140 (GRCm39) probably null Het
Ap3s1 T A 18: 46,887,497 (GRCm39) D43E probably benign Het
Arhgap35 A G 7: 16,299,059 (GRCm39) M2T possibly damaging Het
Asah2 T A 19: 31,991,708 (GRCm39) E451V probably benign Het
Ash1l T G 3: 88,892,024 (GRCm39) I1301S probably damaging Het
Ass1 G A 2: 31,378,665 (GRCm39) probably null Het
Ccpg1 A G 9: 72,906,360 (GRCm39) T39A possibly damaging Het
Cd101 T A 3: 100,911,021 (GRCm39) Y879F possibly damaging Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Cdh23 T C 10: 60,272,586 (GRCm39) T530A possibly damaging Het
Cep68 G T 11: 20,188,477 (GRCm39) Q643K probably damaging Het
Ces1c A G 8: 93,854,197 (GRCm39) S113P probably damaging Het
Cnga4 T C 7: 105,056,232 (GRCm39) I278T probably benign Het
Col1a1 A G 11: 94,842,402 (GRCm39) D1440G unknown Het
Cspp1 A G 1: 10,117,691 (GRCm39) I48V possibly damaging Het
Ctsj T A 13: 61,151,664 (GRCm39) S85C possibly damaging Het
Cyp39a1 C A 17: 44,057,488 (GRCm39) D442E probably damaging Het
Dock3 A T 9: 106,868,292 (GRCm39) F664Y probably damaging Het
Gpcpd1 A T 2: 132,389,622 (GRCm39) H244Q probably benign Het
Gtf3a T A 5: 146,888,092 (GRCm39) V131E probably benign Het
Gtpbp3 A T 8: 71,943,026 (GRCm39) R147W probably damaging Het
H2-Oa A T 17: 34,313,344 (GRCm39) I132F probably damaging Het
Hsd17b8 G A 17: 34,246,552 (GRCm39) probably benign Het
Idi1 T A 13: 8,937,963 (GRCm39) C91* probably null Het
Itga11 A G 9: 62,662,478 (GRCm39) I484V probably benign Het
Kpna3 C T 14: 61,628,694 (GRCm39) S101N probably damaging Het
Larp4 G A 15: 99,870,898 (GRCm39) probably benign Het
Mink1 T C 11: 70,495,970 (GRCm39) L390P probably damaging Het
Morc1 T G 16: 48,322,715 (GRCm39) S337R probably benign Het
Myo10 A G 15: 25,786,026 (GRCm39) R1236G probably damaging Het
Nkx3-1 T C 14: 69,429,396 (GRCm39) I138T possibly damaging Het
Nnt T C 13: 119,502,936 (GRCm39) N489S probably damaging Het
Nrcam A T 12: 44,617,136 (GRCm39) I711F probably benign Het
Ntrk3 A G 7: 78,227,522 (GRCm39) S4P probably damaging Het
Obsl1 T C 1: 75,464,607 (GRCm39) T1605A possibly damaging Het
Or1j17 A G 2: 36,578,655 (GRCm39) I214V possibly damaging Het
Or7g32 A G 9: 19,408,557 (GRCm39) E171G probably benign Het
Pank1 T C 19: 34,856,316 (GRCm39) H54R probably benign Het
Pgm2l1 A G 7: 99,917,472 (GRCm39) I530V probably benign Het
Qsox1 G T 1: 155,688,581 (GRCm39) probably benign Het
Rbm14 A G 19: 4,852,823 (GRCm39) S520P probably benign Het
Rbm15b G A 9: 106,762,120 (GRCm39) R683C probably benign Het
Rhbdd2 T A 5: 135,664,876 (GRCm39) V69D probably damaging Het
Sart1 T C 19: 5,438,576 (GRCm39) E27G possibly damaging Het
Scn4a G A 11: 106,239,553 (GRCm39) P153L probably damaging Het
Serpinb6d A T 13: 33,855,230 (GRCm39) R301S probably benign Het
Sf3a2 C A 10: 80,640,275 (GRCm39) probably benign Het
Syne1 T C 10: 4,997,767 (GRCm39) D400G probably benign Het
Tenm2 T C 11: 35,915,460 (GRCm39) S2025G possibly damaging Het
Ttc16 A T 2: 32,657,988 (GRCm39) D476E probably damaging Het
Ttc9c A T 19: 8,793,396 (GRCm39) C81* probably null Het
Ulk2 G A 11: 61,694,488 (GRCm39) P474L probably damaging Het
Vmn1r66 A G 7: 10,008,722 (GRCm39) C104R probably damaging Het
Vwa2 C T 19: 56,897,752 (GRCm39) H686Y probably damaging Het
Other mutations in Psmd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01599:Psmd2 APN 16 20,478,155 (GRCm39) splice site probably null
IGL02348:Psmd2 APN 16 20,473,397 (GRCm39) missense probably benign 0.07
IGL02352:Psmd2 APN 16 20,475,691 (GRCm39) missense probably benign 0.13
IGL02359:Psmd2 APN 16 20,475,691 (GRCm39) missense probably benign 0.13
R0012:Psmd2 UTSW 16 20,480,434 (GRCm39) missense probably damaging 0.99
R0144:Psmd2 UTSW 16 20,480,975 (GRCm39) splice site probably null
R0565:Psmd2 UTSW 16 20,479,176 (GRCm39) missense probably null 0.63
R0739:Psmd2 UTSW 16 20,474,079 (GRCm39) missense probably benign 0.01
R1075:Psmd2 UTSW 16 20,478,709 (GRCm39) missense probably damaging 0.98
R1189:Psmd2 UTSW 16 20,480,644 (GRCm39) missense probably benign 0.17
R1231:Psmd2 UTSW 16 20,474,335 (GRCm39) missense possibly damaging 0.83
R1405:Psmd2 UTSW 16 20,471,034 (GRCm39) missense possibly damaging 0.83
R1405:Psmd2 UTSW 16 20,471,034 (GRCm39) missense possibly damaging 0.83
R1466:Psmd2 UTSW 16 20,476,715 (GRCm39) unclassified probably benign
R1556:Psmd2 UTSW 16 20,474,335 (GRCm39) missense possibly damaging 0.83
R1843:Psmd2 UTSW 16 20,475,332 (GRCm39) missense probably benign 0.02
R2398:Psmd2 UTSW 16 20,478,222 (GRCm39) missense possibly damaging 0.86
R2421:Psmd2 UTSW 16 20,478,856 (GRCm39) splice site probably null
R2520:Psmd2 UTSW 16 20,481,826 (GRCm39) missense probably damaging 1.00
R3040:Psmd2 UTSW 16 20,476,317 (GRCm39) missense probably benign 0.08
R3905:Psmd2 UTSW 16 20,474,392 (GRCm39) missense probably benign 0.07
R3906:Psmd2 UTSW 16 20,474,392 (GRCm39) missense probably benign 0.07
R3909:Psmd2 UTSW 16 20,474,392 (GRCm39) missense probably benign 0.07
R4027:Psmd2 UTSW 16 20,481,955 (GRCm39) missense probably damaging 0.98
R4029:Psmd2 UTSW 16 20,481,955 (GRCm39) missense probably damaging 0.98
R4031:Psmd2 UTSW 16 20,481,955 (GRCm39) missense probably damaging 0.98
R4357:Psmd2 UTSW 16 20,475,402 (GRCm39) missense probably benign
R4410:Psmd2 UTSW 16 20,473,776 (GRCm39) missense probably damaging 0.96
R4678:Psmd2 UTSW 16 20,478,719 (GRCm39) missense probably damaging 1.00
R4737:Psmd2 UTSW 16 20,478,565 (GRCm39) unclassified probably benign
R4771:Psmd2 UTSW 16 20,481,429 (GRCm39) missense probably damaging 0.99
R5124:Psmd2 UTSW 16 20,471,448 (GRCm39) missense possibly damaging 0.93
R5801:Psmd2 UTSW 16 20,473,672 (GRCm39) missense probably damaging 0.96
R6381:Psmd2 UTSW 16 20,474,023 (GRCm39) missense probably benign 0.03
R6732:Psmd2 UTSW 16 20,481,386 (GRCm39) missense probably benign 0.02
R6870:Psmd2 UTSW 16 20,480,593 (GRCm39) missense probably benign 0.33
R7030:Psmd2 UTSW 16 20,480,883 (GRCm39) missense probably damaging 1.00
R7137:Psmd2 UTSW 16 20,471,377 (GRCm39) missense probably benign 0.12
R7432:Psmd2 UTSW 16 20,473,675 (GRCm39) missense probably damaging 0.99
R8673:Psmd2 UTSW 16 20,475,638 (GRCm39) missense probably damaging 1.00
R8685:Psmd2 UTSW 16 20,474,161 (GRCm39) missense probably benign
R9110:Psmd2 UTSW 16 20,470,994 (GRCm39) missense probably damaging 0.99
R9192:Psmd2 UTSW 16 20,473,412 (GRCm39) missense probably damaging 1.00
R9341:Psmd2 UTSW 16 20,475,441 (GRCm39) critical splice donor site probably null
R9343:Psmd2 UTSW 16 20,475,441 (GRCm39) critical splice donor site probably null
R9504:Psmd2 UTSW 16 20,478,160 (GRCm39) missense probably benign
R9526:Psmd2 UTSW 16 20,474,369 (GRCm39) missense probably benign 0.04
R9689:Psmd2 UTSW 16 20,479,173 (GRCm39) missense probably benign 0.05
Z1176:Psmd2 UTSW 16 20,481,410 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGACCTCATGTTTGCACAGCG -3'
(R):5'- GAGCTAACTGGCGCAACATTG -3'

Sequencing Primer
(F):5'- TGCACAGCGGACAGTTTTAC -3'
(R):5'- CCAGACGGGCATTATTGGTACCTAG -3'
Posted On 2016-06-06