Incidental Mutation 'R4392:Usp2'
ID 326416
Institutional Source Beutler Lab
Gene Symbol Usp2
Ensembl Gene ENSMUSG00000032010
Gene Name ubiquitin specific peptidase 2
Synonyms ubp41, B930035K21Rik
MMRRC Submission 041127-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4392 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 43978318-44006924 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 44002556 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 384 (H384L)
Ref Sequence ENSEMBL: ENSMUSP00000135018 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034508] [ENSMUST00000065379] [ENSMUST00000065461] [ENSMUST00000114830] [ENSMUST00000162126] [ENSMUST00000176416] [ENSMUST00000177054] [ENSMUST00000175816] [ENSMUST00000185479]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000034508
AA Change: H384L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034508
Gene: ENSMUSG00000032010
AA Change: H384L

DomainStartEndE-ValueType
low complexity region 103 116 N/A INTRINSIC
low complexity region 259 269 N/A INTRINSIC
Pfam:UCH 280 610 8.4e-75 PFAM
Pfam:UCH_1 281 592 3.3e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000065379
SMART Domains Protein: ENSMUSP00000070060
Gene: ENSMUSG00000053128

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
transmembrane domain 55 77 N/A INTRINSIC
transmembrane domain 148 170 N/A INTRINSIC
transmembrane domain 183 205 N/A INTRINSIC
low complexity region 208 221 N/A INTRINSIC
transmembrane domain 225 247 N/A INTRINSIC
low complexity region 303 316 N/A INTRINSIC
RING 371 412 1.57e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000065461
AA Change: H161L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070264
Gene: ENSMUSG00000032010
AA Change: H161L

DomainStartEndE-ValueType
low complexity region 25 45 N/A INTRINSIC
Pfam:UCH 57 387 7.5e-79 PFAM
Pfam:UCH_1 58 369 2.1e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114830
AA Change: H384L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110479
Gene: ENSMUSG00000032010
AA Change: H384L

DomainStartEndE-ValueType
low complexity region 103 116 N/A INTRINSIC
low complexity region 259 269 N/A INTRINSIC
Pfam:UCH 280 610 2.9e-78 PFAM
Pfam:UCH_1 281 592 7.7e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160985
SMART Domains Protein: ENSMUSP00000124568
Gene: ENSMUSG00000053128

DomainStartEndE-ValueType
RING 11 52 1.57e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162126
SMART Domains Protein: ENSMUSP00000123938
Gene: ENSMUSG00000111409

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
transmembrane domain 55 77 N/A INTRINSIC
transmembrane domain 148 170 N/A INTRINSIC
transmembrane domain 183 205 N/A INTRINSIC
low complexity region 208 221 N/A INTRINSIC
transmembrane domain 225 247 N/A INTRINSIC
low complexity region 303 316 N/A INTRINSIC
RING 371 412 1.57e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000176416
AA Change: H158L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135482
Gene: ENSMUSG00000032010
AA Change: H158L

DomainStartEndE-ValueType
low complexity region 25 45 N/A INTRINSIC
Pfam:UCH 54 384 7.3e-79 PFAM
Pfam:UCH_1 55 366 2e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000177054
AA Change: H384L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135018
Gene: ENSMUSG00000032010
AA Change: H384L

DomainStartEndE-ValueType
low complexity region 103 116 N/A INTRINSIC
low complexity region 259 269 N/A INTRINSIC
Pfam:UCH 280 610 2.9e-78 PFAM
Pfam:UCH_1 281 592 7.7e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162196
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177422
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176022
Predicted Effect probably benign
Transcript: ENSMUST00000175816
Predicted Effect probably benign
Transcript: ENSMUST00000185479
SMART Domains Protein: ENSMUSP00000140405
Gene: ENSMUSG00000111409

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
transmembrane domain 55 77 N/A INTRINSIC
transmembrane domain 148 170 N/A INTRINSIC
transmembrane domain 183 205 N/A INTRINSIC
low complexity region 208 221 N/A INTRINSIC
transmembrane domain 225 247 N/A INTRINSIC
low complexity region 303 316 N/A INTRINSIC
RING 371 412 1.57e-2 SMART
Meta Mutation Damage Score 0.9696 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.5%
  • 10x: 96.1%
  • 20x: 90.5%
Validation Efficiency 95% (69/73)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the family of de-ubiquitinating enzymes, which belongs to the peptidase C19 superfamily. The encoded protein is a ubiquitin-specific protease which is required for TNF-alpha (tumor necrosis factor alpha) -induced NF-kB (nuclear factor kB) signaling. This protein deubiquitinates polyubiquitinated target proteins such as fatty acid synthase, murine double minute 2 (MDM2), MDM4/MDMX and cyclin D1. MDM2 and MDM4 are negative regulators of the p53 tumor suppressor and cyclin D1 is required for cell cycle G1/S transition. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a null mutation display severely reduced male fertility with defects in sperm motility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik C T 14: 54,822,435 (GRCm39) probably null Het
Abca13 A C 11: 9,259,034 (GRCm39) K2920T possibly damaging Het
Amy2b T G 3: 113,056,724 (GRCm39) noncoding transcript Het
Anapc1 T C 2: 128,518,169 (GRCm39) probably null Het
Bmp7 T G 2: 172,758,335 (GRCm39) D178A probably benign Het
Brsk1 T A 7: 4,701,749 (GRCm39) I170N probably damaging Het
Bub3 C T 7: 131,168,064 (GRCm39) A187V probably benign Het
Cacna2d2 A G 9: 107,277,479 (GRCm39) H71R possibly damaging Het
Cdrt4 A T 11: 62,842,179 (GRCm39) K20N probably benign Het
Clec12a A T 6: 129,330,427 (GRCm39) probably benign Het
Col12a1 T A 9: 79,569,770 (GRCm39) Y1600F probably damaging Het
Cyp2a12 T A 7: 26,728,700 (GRCm39) I57N probably damaging Het
Dip2b T C 15: 100,059,917 (GRCm39) L223P probably damaging Het
Dnah5 G A 15: 28,289,375 (GRCm39) R1188H probably benign Het
Dop1a T C 9: 86,385,196 (GRCm39) probably benign Het
Efcab5 T A 11: 76,981,284 (GRCm39) N1354I probably damaging Het
Eif4b T A 15: 101,995,076 (GRCm39) probably null Het
Erlec1 A G 11: 30,893,697 (GRCm39) probably null Het
Esp24 T C 17: 39,350,968 (GRCm39) probably benign Het
Esp34 T C 17: 38,870,382 (GRCm39) V24A possibly damaging Het
Fbxw15 T A 9: 109,397,300 (GRCm39) probably benign Het
Foxc2 T C 8: 121,844,191 (GRCm39) S280P probably damaging Het
Gm21738 G C 14: 19,417,178 (GRCm38) L117V probably benign Het
Grk3 A G 5: 113,068,002 (GRCm39) F467S probably damaging Het
Grwd1 C T 7: 45,477,204 (GRCm39) G228S probably damaging Het
Gtf2i T C 5: 134,289,483 (GRCm39) E399G probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Homer3 G A 8: 70,742,793 (GRCm39) probably null Het
Ift56 A G 6: 38,358,492 (GRCm39) probably benign Het
Lhx4 A G 1: 155,585,880 (GRCm39) Y83H probably damaging Het
Mdga1 T C 17: 30,069,630 (GRCm39) T413A probably damaging Het
Mideas A T 12: 84,219,885 (GRCm39) D356E probably benign Het
Mmrn2 T A 14: 34,119,573 (GRCm39) L184H probably damaging Het
Mroh2a C T 1: 88,187,311 (GRCm39) R133C probably damaging Het
Myh13 A C 11: 67,235,707 (GRCm39) probably null Het
Nkain3 C A 4: 20,282,985 (GRCm39) R116L possibly damaging Het
Nxph2 A C 2: 23,290,284 (GRCm39) Q212P probably damaging Het
Or4f7d-ps1 T C 2: 111,674,690 (GRCm39) noncoding transcript Het
Or4k15c A G 14: 50,322,060 (GRCm39) F26S probably benign Het
Otog T C 7: 45,934,548 (GRCm39) Y1369H probably damaging Het
Prl A G 13: 27,248,334 (GRCm39) I131V possibly damaging Het
Ptprg A T 14: 12,142,467 (GRCm38) I373F possibly damaging Het
Rad18 A T 6: 112,670,490 (GRCm39) C25S probably damaging Het
Rgs12 A G 5: 35,189,655 (GRCm39) T678A probably damaging Het
Scaper T A 9: 55,765,399 (GRCm39) E557V probably damaging Het
Scube3 C T 17: 28,383,762 (GRCm39) P511L probably null Het
Sgpl1 A G 10: 60,940,231 (GRCm39) probably benign Het
Slc10a1 C A 12: 81,014,578 (GRCm39) E47D probably damaging Het
Sptbn4 T C 7: 27,117,896 (GRCm39) N369S probably damaging Het
Sstr5 T C 17: 25,710,198 (GRCm39) T344A probably benign Het
Tgm4 C T 9: 122,895,817 (GRCm39) T631I probably benign Het
Tmprss15 A G 16: 78,821,326 (GRCm39) Y457H probably damaging Het
Trpm7 A T 2: 126,637,429 (GRCm39) probably null Het
Trpm7 A T 2: 126,690,458 (GRCm39) W207R probably damaging Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Ugt1a10 C T 1: 88,142,845 (GRCm39) P113L probably damaging Het
Vmn2r27 C T 6: 124,207,135 (GRCm39) V169I probably benign Het
Vopp1 A C 6: 57,739,461 (GRCm39) F29C probably damaging Het
Wrn T C 8: 33,741,860 (GRCm39) D953G probably damaging Het
Zfp759 T A 13: 67,287,707 (GRCm39) C419* probably null Het
Other mutations in Usp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00781:Usp2 APN 9 44,000,462 (GRCm39) nonsense probably null
IGL01574:Usp2 APN 9 44,005,100 (GRCm39) missense probably damaging 1.00
IGL02103:Usp2 APN 9 44,000,425 (GRCm39) intron probably benign
IGL02391:Usp2 APN 9 44,002,524 (GRCm39) missense probably damaging 1.00
R0385:Usp2 UTSW 9 44,004,047 (GRCm39) missense probably damaging 0.99
R0555:Usp2 UTSW 9 44,004,081 (GRCm39) missense probably damaging 1.00
R0614:Usp2 UTSW 9 44,003,789 (GRCm39) nonsense probably null
R1553:Usp2 UTSW 9 44,003,452 (GRCm39) missense probably damaging 0.99
R1851:Usp2 UTSW 9 43,987,263 (GRCm39) missense probably benign 0.00
R2437:Usp2 UTSW 9 44,003,445 (GRCm39) missense probably damaging 0.98
R3962:Usp2 UTSW 9 43,986,954 (GRCm39) missense possibly damaging 0.82
R4411:Usp2 UTSW 9 44,002,360 (GRCm39) missense probably damaging 1.00
R4894:Usp2 UTSW 9 43,987,125 (GRCm39) missense probably benign 0.03
R4960:Usp2 UTSW 9 43,987,110 (GRCm39) missense probably damaging 1.00
R5482:Usp2 UTSW 9 44,000,480 (GRCm39) critical splice donor site probably null
R5496:Usp2 UTSW 9 43,996,505 (GRCm39) missense possibly damaging 0.95
R5932:Usp2 UTSW 9 44,003,630 (GRCm39) missense probably benign
R6956:Usp2 UTSW 9 44,004,053 (GRCm39) missense probably damaging 1.00
R7007:Usp2 UTSW 9 44,001,339 (GRCm39) missense probably damaging 1.00
R7224:Usp2 UTSW 9 43,987,266 (GRCm39) missense possibly damaging 0.95
R7635:Usp2 UTSW 9 43,978,519 (GRCm39) critical splice donor site probably null
R7707:Usp2 UTSW 9 43,984,757 (GRCm39) splice site probably null
R8493:Usp2 UTSW 9 43,987,350 (GRCm39) missense possibly damaging 0.85
R8744:Usp2 UTSW 9 43,998,510 (GRCm39) intron probably benign
R8888:Usp2 UTSW 9 43,986,894 (GRCm39) missense probably benign 0.18
R9035:Usp2 UTSW 9 43,987,176 (GRCm39) missense probably damaging 1.00
R9650:Usp2 UTSW 9 44,000,476 (GRCm39) missense probably damaging 1.00
R9667:Usp2 UTSW 9 44,003,487 (GRCm39) critical splice donor site probably null
RF007:Usp2 UTSW 9 44,000,418 (GRCm39) critical splice acceptor site probably benign
RF012:Usp2 UTSW 9 44,000,427 (GRCm39) critical splice acceptor site probably benign
RF015:Usp2 UTSW 9 44,000,406 (GRCm39) critical splice acceptor site probably benign
RF036:Usp2 UTSW 9 44,000,421 (GRCm39) critical splice acceptor site probably benign
RF046:Usp2 UTSW 9 44,000,408 (GRCm39) critical splice acceptor site probably benign
RF051:Usp2 UTSW 9 44,000,426 (GRCm39) critical splice acceptor site probably benign
RF053:Usp2 UTSW 9 44,000,426 (GRCm39) critical splice acceptor site probably benign
Predicted Primers PCR Primer
(F):5'- GTTCAAGACCCAGATCCAGAG -3'
(R):5'- ACAACCCTCCTGAGCTGTAC -3'

Sequencing Primer
(F):5'- GATCCAGAGATATGCGCCACG -3'
(R):5'- ACGGTTCTCTTGAGCCAGGATTAAC -3'
Posted On 2015-07-06