Incidental Mutation 'R0739:Psmd2'
ID 70644
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 038920-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R0739 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 20470402-20482164 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 20474079 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 261 (R261C)
Ref Sequence ENSEMBL: ENSMUSP00000007212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007212] [ENSMUST00000172207] [ENSMUST00000232629]
AlphaFold Q8VDM4
Predicted Effect probably benign
Transcript: ENSMUST00000007212
AA Change: R261C

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000007212
Gene: ENSMUSG00000006998
AA Change: R261C

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: ENSMUST00000167869
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169184
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169195
Predicted Effect probably benign
Transcript: ENSMUST00000172207
Predicted Effect probably benign
Transcript: ENSMUST00000232513
Predicted Effect probably benign
Transcript: ENSMUST00000232629
Predicted Effect probably benign
Transcript: ENSMUST00000231897
Meta Mutation Damage Score 0.1043 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.0%
Validation Efficiency 98% (48/49)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 A G 11: 54,227,961 (GRCm39) E327G probably damaging Het
Adcy6 T C 15: 98,496,260 (GRCm39) D593G probably benign Het
Ankmy1 T C 1: 92,816,370 (GRCm39) D248G probably damaging Het
Atp2a1 T C 7: 126,047,428 (GRCm39) I743V possibly damaging Het
Axdnd1 T C 1: 156,208,456 (GRCm39) N396D possibly damaging Het
Cacna1e C T 1: 154,318,024 (GRCm39) A1391T probably damaging Het
Ccr8 G A 9: 119,923,415 (GRCm39) G177S probably damaging Het
Clmn C T 12: 104,747,276 (GRCm39) G757D possibly damaging Het
Cntn2 T A 1: 132,456,750 (GRCm39) I99F probably damaging Het
D6Ertd527e C G 6: 87,088,650 (GRCm39) A271G unknown Het
Dnah1 A T 14: 30,987,872 (GRCm39) C3515* probably null Het
Eif2d A G 1: 131,082,100 (GRCm39) Y64C probably damaging Het
Elovl4 A G 9: 83,667,162 (GRCm39) F65S probably damaging Het
F5 G C 1: 164,026,486 (GRCm39) R1686P probably damaging Het
Fbn1 T C 2: 125,209,550 (GRCm39) E938G probably benign Het
Foxn1 T C 11: 78,249,825 (GRCm39) T567A probably benign Het
Gabrr1 T C 4: 33,162,781 (GRCm39) M449T probably benign Het
Gdf2 C T 14: 33,663,178 (GRCm39) P24L probably damaging Het
Itgb3bp T C 4: 99,690,433 (GRCm39) I29V probably benign Het
Kcnk7 C T 19: 5,754,830 (GRCm39) probably null Het
Klf11 T C 12: 24,710,247 (GRCm39) S432P probably damaging Het
Neo1 C T 9: 58,829,160 (GRCm39) A580T probably benign Het
Nexmif G T X: 103,128,555 (GRCm39) Q1121K probably benign Het
Or51aa5 T C 7: 103,166,931 (GRCm39) Y220C probably damaging Het
Or51f5 T C 7: 102,423,872 (GRCm39) I47T probably damaging Het
Or5p62 T C 7: 107,771,217 (GRCm39) T245A probably benign Het
Osgepl1 G T 1: 53,362,354 (GRCm39) E399* probably null Het
Parvg T A 15: 84,215,222 (GRCm39) V197E probably damaging Het
Pcyt2 A G 11: 120,502,870 (GRCm39) L257P probably damaging Het
Pou3f2 T C 4: 22,486,960 (GRCm39) D391G possibly damaging Het
Ptpn13 T C 5: 103,722,998 (GRCm39) F1981L probably benign Het
Rbp3 A T 14: 33,680,604 (GRCm39) I1069F probably benign Het
Rhbdf2 A T 11: 116,490,987 (GRCm39) L655Q probably damaging Het
Sec16a A T 2: 26,331,063 (GRCm39) N317K possibly damaging Het
Serpina3f T C 12: 104,184,612 (GRCm39) V252A probably damaging Het
Slc22a23 C T 13: 34,528,366 (GRCm39) G139S possibly damaging Het
Smyd2 T C 1: 189,621,059 (GRCm39) T220A possibly damaging Het
Snrpb2 T A 2: 142,907,281 (GRCm39) probably benign Het
Spopfm1 A G 3: 94,173,102 (GRCm39) M37V probably benign Het
Sptan1 A T 2: 29,903,530 (GRCm39) I1502F probably damaging Het
Srprb A T 9: 103,074,794 (GRCm39) L116H probably damaging Het
Stradb T A 1: 59,016,174 (GRCm39) probably benign Het
Tm9sf4 C A 2: 153,045,734 (GRCm39) F535L probably damaging Het
Tmprss15 A T 16: 78,821,736 (GRCm39) S440T possibly damaging Het
Tpr C T 1: 150,283,248 (GRCm39) A293V possibly damaging Het
Usp34 C T 11: 23,417,243 (GRCm39) T2964I possibly damaging Het
Usp35 C A 7: 96,960,874 (GRCm39) E851* probably null Het
Zc3h14 T A 12: 98,723,460 (GRCm39) V250D probably damaging Het
Zfp568 T A 7: 29,722,746 (GRCm39) C564S 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
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
R5081:Psmd2 UTSW 16 20,480,405 (GRCm39) missense probably benign 0.14
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'- TGATGAGAACGCCTACGCCAAG -3'
(R):5'- AGCCTCTGTGTCGCATCAGAAAC -3'

Sequencing Primer
(F):5'- AGCAGGTAGCACTCGTCTTC -3'
(R):5'- GTGTCGCATCAGAAACTGCTAC -3'
Posted On 2013-09-30