Incidental Mutation 'R6989:Psmc2'
ID 543129
Institutional Source Beutler Lab
Gene Symbol Psmc2
Ensembl Gene ENSMUSG00000028932
Gene Name proteasome (prosome, macropain) 26S subunit, ATPase 2
Synonyms
MMRRC Submission 045095-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6989 (G1)
Quality Score 128.008
Status Not validated
Chromosome 5
Chromosomal Location 21990281-22008785 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 22006217 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 243 (F243L)
Ref Sequence ENSEMBL: ENSMUSP00000030769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030769]
AlphaFold P46471
Predicted Effect possibly damaging
Transcript: ENSMUST00000030769
AA Change: F243L

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000030769
Gene: ENSMUSG00000028932
AA Change: F243L

DomainStartEndE-ValueType
low complexity region 114 125 N/A INTRINSIC
AAA 250 389 2.74e-23 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.4%
Validation Efficiency
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 ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. This subunit has been shown to interact with several of the basal transcription factors so, in addition to participation in proteasome functions, this subunit may participate in the regulation of transcription. This subunit may also compete with PSMC3 for binding to the HIV tat protein to regulate the interaction between the viral protein and the transcription complex. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2011]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921536K21Rik C T 11: 3,840,076 (GRCm39) R107H probably damaging Het
4930438A08Rik T C 11: 58,178,228 (GRCm39) V96A possibly damaging Het
Abcc2 A G 19: 43,820,611 (GRCm39) D1370G probably damaging Het
Abcc9 T A 6: 142,634,707 (GRCm39) N186Y probably damaging Het
Adcy7 T C 8: 89,035,414 (GRCm39) V106A probably benign Het
Adgra3 A G 5: 50,164,226 (GRCm39) F251S probably damaging Het
Akr1c6 T A 13: 4,499,045 (GRCm39) I33N probably damaging Het
Alk A C 17: 72,204,947 (GRCm39) M1075R probably benign Het
Amh A G 10: 80,641,338 (GRCm39) Q86R probably benign Het
Aox1 T C 1: 58,124,611 (GRCm39) Y951H probably damaging Het
Arhgap26 G T 18: 39,232,682 (GRCm39) R119L probably damaging Het
Arl8a A G 1: 135,074,735 (GRCm39) K7R probably benign Het
Birc6 T G 17: 74,937,984 (GRCm39) S2638A probably benign Het
Ccdc162 T G 10: 41,457,349 (GRCm39) Q256H probably damaging Het
Cenpe T A 3: 134,940,888 (GRCm39) L679Q probably damaging Het
Cpa5 T A 6: 30,625,891 (GRCm39) H203Q probably benign Het
Cpne9 A T 6: 113,277,544 (GRCm39) D421V possibly damaging Het
Cux1 A T 5: 136,308,502 (GRCm39) C1212* probably null Het
Dock9 G A 14: 121,864,791 (GRCm39) H736Y probably damaging Het
Dpp3 A T 19: 4,971,195 (GRCm39) V214E probably damaging Het
Dtx3 T C 10: 127,028,746 (GRCm39) E161G probably benign Het
Ect2 A T 3: 27,156,637 (GRCm39) Y774* probably null Het
Enpep G T 3: 129,074,599 (GRCm39) P717H probably damaging Het
Erich3 A T 3: 154,469,314 (GRCm39) probably benign Het
Fbp2 C T 13: 63,005,991 (GRCm39) A41T probably damaging Het
Fbxl21 T C 13: 56,674,874 (GRCm39) V75A probably damaging Het
Fkbp5 C T 17: 28,634,919 (GRCm39) D197N probably benign Het
Fsip2 A G 2: 82,807,298 (GRCm39) T1206A probably benign Het
Ggt7 A G 2: 155,345,380 (GRCm39) V156A probably benign Het
Gpi1 T C 7: 33,901,945 (GRCm39) K156R probably damaging Het
Gpx5 T C 13: 21,471,669 (GRCm39) D178G probably damaging Het
Grm7 G A 6: 111,184,766 (GRCm39) E366K probably damaging Het
Haao T C 17: 84,139,103 (GRCm39) Q277R probably damaging Het
Lama1 T C 17: 68,060,753 (GRCm39) S694P Het
Lrp10 A G 14: 54,705,950 (GRCm39) D380G probably benign Het
Lrp2 C A 2: 69,302,799 (GRCm39) D2977Y probably damaging Het
Map2 T A 1: 66,454,065 (GRCm39) M985K probably benign Het
Met C A 6: 17,535,927 (GRCm39) N784K possibly damaging Het
Met T A 6: 17,535,928 (GRCm39) Y65N probably damaging Het
Muc6 T G 7: 141,226,246 (GRCm39) probably benign Het
Numbl T A 7: 26,980,265 (GRCm39) W416R probably damaging Het
Nup160 G A 2: 90,537,364 (GRCm39) S746N probably benign Het
Pcca G A 14: 122,887,700 (GRCm39) G102D probably damaging Het
Pira13 T A 7: 3,825,163 (GRCm39) Y493F possibly damaging Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rpn1 G T 6: 88,076,285 (GRCm39) V357L probably benign Het
Rtn3 A G 19: 7,433,856 (GRCm39) F712S possibly damaging Het
Scgb1b10 T A 7: 31,800,574 (GRCm39) D54E probably benign Het
Scn5a A G 9: 119,315,395 (GRCm39) I1771T probably damaging Het
Sec14l1 A G 11: 117,047,220 (GRCm39) I633V probably damaging Het
Slc17a6 T C 7: 51,311,224 (GRCm39) Y313H possibly damaging Het
Slc18a1 G A 8: 69,491,514 (GRCm39) T500I probably benign Het
Slx4 G A 16: 3,813,702 (GRCm39) A93V probably damaging Het
Stat4 T C 1: 52,107,974 (GRCm39) S148P probably benign Het
Tbc1d15 A T 10: 115,045,474 (GRCm39) C497S probably damaging Het
Ticam1 C T 17: 56,576,900 (GRCm39) E732K probably benign Het
Trav3-3 C A 14: 53,903,802 (GRCm39) P40Q possibly damaging Het
Trpv6 A T 6: 41,602,390 (GRCm39) L332Q probably damaging Het
Ube2t T G 1: 134,897,033 (GRCm39) V55G probably damaging Het
Ufm1 T C 3: 53,765,402 (GRCm39) K69E probably damaging Het
Utp20 T C 10: 88,614,102 (GRCm39) D1284G probably benign Het
Vil1 C T 1: 74,463,113 (GRCm39) T432I probably damaging Het
Vps13b T A 15: 35,448,727 (GRCm39) I567K probably benign Het
Zfp236 A T 18: 82,646,488 (GRCm39) V1023D probably damaging Het
Zfp429 A G 13: 67,538,080 (GRCm39) Y455H probably benign Het
Other mutations in Psmc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01024:Psmc2 APN 5 22,006,196 (GRCm39) splice site probably benign
IGL01324:Psmc2 APN 5 22,005,007 (GRCm39) critical splice donor site probably null
IGL01354:Psmc2 APN 5 22,000,834 (GRCm39) missense possibly damaging 0.51
IGL02604:Psmc2 APN 5 22,000,098 (GRCm39) splice site probably null
R1656:Psmc2 UTSW 5 22,004,549 (GRCm39) missense possibly damaging 0.77
R2154:Psmc2 UTSW 5 22,008,127 (GRCm39) missense possibly damaging 0.94
R4684:Psmc2 UTSW 5 22,008,263 (GRCm39) missense possibly damaging 0.94
R5012:Psmc2 UTSW 5 22,007,563 (GRCm39) missense probably benign 0.09
R6736:Psmc2 UTSW 5 22,005,574 (GRCm39) missense probably damaging 0.99
R7681:Psmc2 UTSW 5 22,008,272 (GRCm39) critical splice donor site probably null
R8120:Psmc2 UTSW 5 22,005,566 (GRCm39) missense probably damaging 1.00
R8752:Psmc2 UTSW 5 22,001,533 (GRCm39) missense probably benign 0.00
R8823:Psmc2 UTSW 5 22,005,574 (GRCm39) missense probably damaging 0.99
R9798:Psmc2 UTSW 5 22,000,806 (GRCm39) missense probably benign 0.01
Z1176:Psmc2 UTSW 5 22,006,315 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGATAGGAACATGCCATACCTG -3'
(R):5'- GACAAATTCACTTTACCTCGCCG -3'

Sequencing Primer
(F):5'- GGAACATGCCATACCTGAAAATTG -3'
(R):5'- ACCTCGCCGACGTATTTCTG -3'
Posted On 2018-11-28