Incidental Mutation 'R7887:Usp20'
ID 609098
Institutional Source Beutler Lab
Gene Symbol Usp20
Ensembl Gene ENSMUSG00000026854
Gene Name ubiquitin specific peptidase 20
Synonyms Vdu2, 1700055M05Rik
MMRRC Submission 045939-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7887 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 30872291-30912667 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30910906 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 862 (K862E)
Ref Sequence ENSEMBL: ENSMUSP00000099913 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102849] [ENSMUST00000170476]
AlphaFold Q8C6M1
Predicted Effect probably benign
Transcript: ENSMUST00000102849
AA Change: K862E

PolyPhen 2 Score 0.341 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000099913
Gene: ENSMUSG00000026854
AA Change: K862E

DomainStartEndE-ValueType
Pfam:zf-UBP 30 95 4.3e-17 PFAM
low complexity region 128 138 N/A INTRINSIC
Pfam:UCH 144 684 5e-63 PFAM
Pfam:UCH_1 145 669 8.8e-24 PFAM
DUSP 704 787 5.97e-28 SMART
DUSP 812 897 4.74e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000170476
AA Change: K862E

PolyPhen 2 Score 0.341 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000127388
Gene: ENSMUSG00000026854
AA Change: K862E

DomainStartEndE-ValueType
Pfam:zf-UBP 30 95 3.4e-17 PFAM
low complexity region 128 138 N/A INTRINSIC
Pfam:UCH 144 270 1.2e-26 PFAM
Pfam:UCH_1 145 669 6.1e-20 PFAM
Pfam:UCH 324 684 1.6e-31 PFAM
DUSP 704 787 5.97e-28 SMART
DUSP 812 897 4.74e-31 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (48/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ubiquitin specific processing protease that was first identified as a substrate of the VHL (von Hippel-Lindau disease) protein E3 ubiquitin ligase complex. In addition to being ubiquitinated by the VHL-E3 ligase complex, this enzyme deubiquitinates hypoxia-inducible factor (HIF)-1 alpha and thereby causes increased expression of HIF-1alpha targeted genes which play a role in angiogenesis, glucose metabolism, cell proliferation and metastasis. The enzyme encoded by this gene also regulates G-protein coupled receptor signaling by mediating the deubiquitination of beta-2 adrenergic receptor (ADRB2). This enzyme is a ubiquitously expressed thiolester hydrolase. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jan 2013]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkbh8 T A 9: 3,385,343 (GRCm39) I580N probably damaging Het
Ankrd35 C T 3: 96,592,216 (GRCm39) T834M probably damaging Het
Astn2 C T 4: 65,563,103 (GRCm39) V893I possibly damaging Het
B4galt1 A G 4: 40,823,501 (GRCm39) Y197H probably benign Het
Brdt T C 5: 107,507,799 (GRCm39) S676P possibly damaging Het
Chrdl2 T C 7: 99,678,457 (GRCm39) V343A possibly damaging Het
Clcn3 A T 8: 61,394,433 (GRCm39) M59K probably benign Het
Cpne4 A T 9: 104,909,990 (GRCm39) N529I probably damaging Het
Crcp G T 5: 130,066,711 (GRCm39) K32N possibly damaging Het
Ddx54 C T 5: 120,765,268 (GRCm39) R846C probably damaging Het
Dennd6a T C 14: 26,320,812 (GRCm39) S118P possibly damaging Het
Egr3 A G 14: 70,316,651 (GRCm39) Y116C probably damaging Het
Fbxw25 A G 9: 109,478,662 (GRCm39) probably null Het
Focad T G 4: 88,100,853 (GRCm39) I313M probably damaging Het
Gm10272 C T 10: 77,542,779 (GRCm39) P107L probably benign Het
Gpr26 A C 7: 131,568,702 (GRCm39) I16L probably benign Het
Gpr39 C A 1: 125,605,279 (GRCm39) T69K probably damaging Het
Hacl1 C T 14: 31,356,184 (GRCm39) G97S probably damaging Het
Idh3b A C 2: 130,123,678 (GRCm39) D136E probably damaging Het
Irf6 G A 1: 192,850,040 (GRCm39) V321M probably damaging Het
Klrg2 T A 6: 38,613,506 (GRCm39) T166S probably damaging Het
Lnx2 T C 5: 146,955,853 (GRCm39) I648V probably damaging Het
Mecr A G 4: 131,588,177 (GRCm39) probably null Het
Mnat1 T A 12: 73,234,965 (GRCm39) S205T probably benign Het
Mpnd G A 17: 56,318,097 (GRCm39) G204D probably benign Het
Myh7 C T 14: 55,221,119 (GRCm39) E935K possibly damaging Het
Nid1 G T 13: 13,674,318 (GRCm39) R899L possibly damaging Het
Nisch C T 14: 30,898,652 (GRCm39) W664* probably null Het
Nudt6 C T 3: 37,466,529 (GRCm39) V157I possibly damaging Het
Onecut2 T A 18: 64,474,046 (GRCm39) M180K possibly damaging Het
Or51h7 A C 7: 102,591,358 (GRCm39) L142R possibly damaging Het
Or5l13 T C 2: 87,780,224 (GRCm39) M118V probably damaging Het
Or8g31-ps1 A T 9: 39,276,175 (GRCm39) M107L unknown Het
Parg T A 14: 31,939,619 (GRCm39) D548E possibly damaging Het
Pclo GTCTAT GTCTATTCTAT 5: 14,764,204 (GRCm39) probably null Het
Phf11d A G 14: 59,597,029 (GRCm39) Y57H probably damaging Het
Prkaca T C 8: 84,713,524 (GRCm39) V99A probably benign Het
Rnf144b T A 13: 47,393,287 (GRCm39) C209S probably damaging Het
Scly G A 1: 91,228,363 (GRCm39) probably null Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Sphkap T C 1: 83,255,133 (GRCm39) Y872C probably benign Het
Ssh1 C T 5: 114,099,410 (GRCm39) probably null Het
Strap T G 6: 137,716,807 (GRCm39) L129V possibly damaging Het
Sympk T C 7: 18,768,364 (GRCm39) I111T possibly damaging Het
Tprn C A 2: 25,154,024 (GRCm39) A442E probably damaging Het
Tsen34 T C 7: 3,697,707 (GRCm39) L36P probably damaging Het
Ubr4 T C 4: 139,135,121 (GRCm39) F818L probably damaging Het
Uggt1 T C 1: 36,247,115 (GRCm39) Y294C probably damaging Het
Vmn1r201 A T 13: 22,658,956 (GRCm39) I57F probably damaging Het
Wdr64 C T 1: 175,613,111 (GRCm39) A662V not run Het
Other mutations in Usp20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00973:Usp20 APN 2 30,894,962 (GRCm39) missense probably damaging 1.00
IGL01444:Usp20 APN 2 30,888,801 (GRCm39) start codon destroyed probably null 1.00
IGL01601:Usp20 APN 2 30,901,806 (GRCm39) missense probably benign 0.04
IGL01785:Usp20 APN 2 30,907,175 (GRCm39) missense probably benign 0.02
IGL01786:Usp20 APN 2 30,907,175 (GRCm39) missense probably benign 0.02
IGL02129:Usp20 APN 2 30,894,462 (GRCm39) missense probably benign 0.43
IGL02147:Usp20 APN 2 30,896,413 (GRCm39) missense probably damaging 1.00
IGL03396:Usp20 APN 2 30,901,729 (GRCm39) missense probably benign
BB007:Usp20 UTSW 2 30,900,556 (GRCm39) missense probably benign 0.21
BB017:Usp20 UTSW 2 30,900,556 (GRCm39) missense probably benign 0.21
PIT4453001:Usp20 UTSW 2 30,907,498 (GRCm39) missense possibly damaging 0.47
R0111:Usp20 UTSW 2 30,892,624 (GRCm39) missense probably damaging 1.00
R0369:Usp20 UTSW 2 30,901,116 (GRCm39) missense probably benign 0.00
R0479:Usp20 UTSW 2 30,907,487 (GRCm39) missense probably benign 0.18
R0538:Usp20 UTSW 2 30,894,462 (GRCm39) missense probably damaging 0.99
R1023:Usp20 UTSW 2 30,897,825 (GRCm39) missense probably damaging 1.00
R1183:Usp20 UTSW 2 30,901,797 (GRCm39) missense probably benign 0.17
R1635:Usp20 UTSW 2 30,908,830 (GRCm39) missense probably benign 0.03
R2114:Usp20 UTSW 2 30,906,317 (GRCm39) missense probably damaging 1.00
R2115:Usp20 UTSW 2 30,906,317 (GRCm39) missense probably damaging 1.00
R2116:Usp20 UTSW 2 30,906,317 (GRCm39) missense probably damaging 1.00
R2117:Usp20 UTSW 2 30,906,317 (GRCm39) missense probably damaging 1.00
R2232:Usp20 UTSW 2 30,908,750 (GRCm39) missense probably benign 0.13
R2244:Usp20 UTSW 2 30,900,343 (GRCm39) missense possibly damaging 0.65
R2883:Usp20 UTSW 2 30,908,812 (GRCm39) missense probably benign
R4734:Usp20 UTSW 2 30,909,836 (GRCm39) missense probably benign 0.31
R5507:Usp20 UTSW 2 30,900,238 (GRCm39) missense probably benign
R5770:Usp20 UTSW 2 30,907,520 (GRCm39) missense probably damaging 1.00
R5862:Usp20 UTSW 2 30,896,461 (GRCm39) nonsense probably null
R6315:Usp20 UTSW 2 30,907,770 (GRCm39) missense possibly damaging 0.70
R7603:Usp20 UTSW 2 30,901,486 (GRCm39) missense probably damaging 1.00
R7930:Usp20 UTSW 2 30,900,556 (GRCm39) missense probably benign 0.21
R8542:Usp20 UTSW 2 30,901,636 (GRCm39) missense possibly damaging 0.94
R8965:Usp20 UTSW 2 30,901,797 (GRCm39) missense possibly damaging 0.77
R9079:Usp20 UTSW 2 30,895,120 (GRCm39) intron probably benign
R9226:Usp20 UTSW 2 30,907,412 (GRCm39) missense probably damaging 0.99
R9417:Usp20 UTSW 2 30,873,030 (GRCm39) critical splice acceptor site probably null
R9459:Usp20 UTSW 2 30,901,024 (GRCm39) missense probably damaging 0.99
Z1176:Usp20 UTSW 2 30,909,830 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- AGAGGAAGGCTTTGGTACAC -3'
(R):5'- ACTAGGCTAGCAGTGGGTAG -3'

Sequencing Primer
(F):5'- GGTACACCAAGTATCCTTTGTTAGC -3'
(R):5'- TGCAGGGCCTGGAGGAC -3'
Posted On 2019-12-20