Incidental Mutation 'R6315:Usp20'
ID 510567
Institutional Source Beutler Lab
Gene Symbol Usp20
Ensembl Gene ENSMUSG00000026854
Gene Name ubiquitin specific peptidase 20
Synonyms Vdu2, 1700055M05Rik
MMRRC Submission 044472-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6315 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 30872291-30912667 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 30907770 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 711 (R711C)
Ref Sequence ENSEMBL: ENSMUSP00000127388 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102849] [ENSMUST00000170476]
AlphaFold Q8C6M1
Predicted Effect possibly damaging
Transcript: ENSMUST00000102849
AA Change: R711C

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099913
Gene: ENSMUSG00000026854
AA Change: R711C

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 noncoding transcript
Transcript: ENSMUST00000127776
Predicted Effect possibly damaging
Transcript: ENSMUST00000170476
AA Change: R711C

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000127388
Gene: ENSMUSG00000026854
AA Change: R711C

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: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 97% (64/66)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T C 7: 119,945,315 (GRCm39) Y464H probably damaging Het
Ahnak T C 19: 8,983,990 (GRCm39) M1758T probably damaging Het
Ak9 A T 10: 41,282,837 (GRCm39) D1201V possibly damaging Het
Amdhd2 A C 17: 24,377,330 (GRCm39) H203Q probably benign Het
Ano3 A G 2: 110,527,384 (GRCm39) M608T probably damaging Het
Arhgef4 G A 1: 34,762,558 (GRCm39) A605T unknown Het
Atp1a2 C G 1: 172,116,903 (GRCm39) R238P probably damaging Het
Atp8b1 C A 18: 64,664,550 (GRCm39) R1206L probably damaging Het
B4galt5 A T 2: 167,147,729 (GRCm39) N215K probably damaging Het
Bpifa1 A G 2: 153,987,996 (GRCm39) K180E possibly damaging Het
Cadm1 C T 9: 47,721,417 (GRCm39) T269M probably damaging Het
Cadm3 T C 1: 173,171,919 (GRCm39) D252G probably benign Het
Ccdc18 A G 5: 108,309,448 (GRCm39) R348G probably benign Het
Cers4 G A 8: 4,566,980 (GRCm39) C94Y probably benign Het
Cfap58 G A 19: 47,929,716 (GRCm39) R59H probably benign Het
Col19a1 C T 1: 24,565,533 (GRCm39) G266D unknown Het
Col6a5 G T 9: 105,759,169 (GRCm39) F2012L probably damaging Het
Dnah6 T C 6: 73,168,588 (GRCm39) Q445R probably benign Het
Dsg3 A G 18: 20,657,643 (GRCm39) S238G probably benign Het
E130308A19Rik G A 4: 59,691,132 (GRCm39) S322N probably benign Het
Eif5b A G 1: 38,057,114 (GRCm39) D57G unknown Het
Fbn2 T C 18: 58,188,025 (GRCm39) probably null Het
Fbxo38 A T 18: 62,669,218 (GRCm39) C77* probably null Het
Fgb T A 3: 82,952,362 (GRCm39) Q169L probably benign Het
Fut9 A T 4: 25,619,774 (GRCm39) Y347N probably damaging Het
Gabrg2 T C 11: 41,862,688 (GRCm39) K132R probably damaging Het
Gpn3 C T 5: 122,510,638 (GRCm39) probably benign Het
Helz2 A G 2: 180,874,995 (GRCm39) L1833P probably damaging Het
Hk3 C T 13: 55,158,970 (GRCm39) D484N probably benign Het
Icam4 T C 9: 20,941,248 (GRCm39) V129A probably damaging Het
Impdh2 T C 9: 108,440,638 (GRCm39) S280P possibly damaging Het
Impg1 C A 9: 80,301,356 (GRCm39) G267V probably benign Het
Iqgap1 C T 7: 80,449,638 (GRCm39) V39M possibly damaging Het
Lyst A G 13: 13,818,089 (GRCm39) N1253S probably benign Het
Mgat4b T A 11: 50,122,591 (GRCm39) V195E probably damaging Het
Mrgprb8 C T 7: 48,038,983 (GRCm39) T218I probably damaging Het
Myrfl T G 10: 116,658,724 (GRCm39) E411A possibly damaging Het
Myt1l T C 12: 29,877,797 (GRCm39) S483P unknown Het
Neil2 A G 14: 63,420,920 (GRCm39) V80A possibly damaging Het
Nfe2l2 G T 2: 75,507,163 (GRCm39) D312E probably damaging Het
Nin A T 12: 70,092,389 (GRCm39) L640Q probably damaging Het
Nup205 T A 6: 35,213,804 (GRCm39) I1732N probably damaging Het
Nup42 T C 5: 24,372,502 (GRCm39) S97P probably damaging Het
Or5b114-ps1 T C 19: 13,352,769 (GRCm39) C148R unknown Het
Or5k16 A C 16: 58,736,609 (GRCm39) Y132D probably damaging Het
Plcb1 A T 2: 135,188,261 (GRCm39) T785S probably benign Het
Plch1 C T 3: 63,688,811 (GRCm39) W131* probably null Het
Ppp1r1b A G 11: 98,246,216 (GRCm39) E66G probably damaging Het
Ros1 A T 10: 51,994,306 (GRCm39) W1325R probably benign Het
Sec14l5 A C 16: 4,998,141 (GRCm39) E500A possibly damaging Het
Sirpb1c A G 3: 15,886,470 (GRCm39) V302A possibly damaging Het
Spata19 T C 9: 27,312,133 (GRCm39) Y107H possibly damaging Het
Sv2a G A 3: 96,095,502 (GRCm39) M298I probably benign Het
Tdrd6 A T 17: 43,937,229 (GRCm39) M1273K probably benign Het
Tectb A G 19: 55,179,904 (GRCm39) H250R possibly damaging Het
Trip11 T G 12: 101,851,837 (GRCm39) E742D possibly damaging Het
Tslp A G 18: 32,950,143 (GRCm39) T71A probably benign Het
Vmn1r181 G A 7: 23,684,183 (GRCm39) R216Q probably benign Het
Vmn2r8 A T 5: 108,949,757 (GRCm39) F363L probably benign Het
Vsnl1 T A 12: 11,382,156 (GRCm39) N75I probably damaging Het
Wdr55 A T 18: 36,895,122 (GRCm39) D96V probably damaging Het
Wls T A 3: 159,640,007 (GRCm39) probably null Het
Zc3h13 A G 14: 75,546,355 (GRCm39) D152G probably damaging Het
Zc3h18 A G 8: 123,110,604 (GRCm39) E151G probably benign Het
Zfat A G 15: 67,956,311 (GRCm39) S1174P probably damaging Het
Zfyve9 T A 4: 108,531,685 (GRCm39) T416S probably damaging 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
R7603:Usp20 UTSW 2 30,901,486 (GRCm39) missense probably damaging 1.00
R7887:Usp20 UTSW 2 30,910,906 (GRCm39) missense probably benign 0.34
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'- TGTCCCAGCATGCTAAAGG -3'
(R):5'- ACCAGGTCATCGATGTAGTGG -3'

Sequencing Primer
(F):5'- TAAAGGGTGGCTCTGCACAC -3'
(R):5'- CCAGGTCATCGATGTAGTGGTATTTG -3'
Posted On 2018-04-02