Incidental Mutation 'IGL00781:Usp2'
ID14732
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp2
Ensembl Gene ENSMUSG00000032010
Gene Nameubiquitin specific peptidase 2
Synonymsubp41, B930035K21Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00781
Quality Score
Status
Chromosome9
Chromosomal Location44067021-44095627 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 44089165 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Stop codon at position 284 (R284*)
Ref Sequence ENSEMBL: ENSMUSP00000135018 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034508] [ENSMUST00000065461] [ENSMUST00000114830] [ENSMUST00000162126] [ENSMUST00000175816] [ENSMUST00000176416] [ENSMUST00000177054] [ENSMUST00000185479]
Predicted Effect probably null
Transcript: ENSMUST00000034508
AA Change: R284*
SMART Domains Protein: ENSMUSP00000034508
Gene: ENSMUSG00000032010
AA Change: R284*

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 null
Transcript: ENSMUST00000065461
AA Change: R61*
SMART Domains Protein: ENSMUSP00000070264
Gene: ENSMUSG00000032010
AA Change: R61*

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 null
Transcript: ENSMUST00000114830
AA Change: R284*
SMART Domains Protein: ENSMUSP00000110479
Gene: ENSMUSG00000032010
AA Change: R284*

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: 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 silent
Transcript: ENSMUST00000175816
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176022
Predicted Effect probably null
Transcript: ENSMUST00000176416
AA Change: R58*
SMART Domains Protein: ENSMUSP00000135482
Gene: ENSMUSG00000032010
AA Change: R58*

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 null
Transcript: ENSMUST00000177054
AA Change: R284*
SMART Domains Protein: ENSMUSP00000135018
Gene: ENSMUSG00000032010
AA Change: R284*

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: ENSMUST00000177422
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
Coding Region Coverage
Validation Efficiency
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss3 A G 10: 106,966,026 S489P probably benign Het
Adam8 A T 7: 139,987,245 N431K probably damaging Het
Add1 A G 5: 34,613,358 H271R probably damaging Het
Adgrv1 G A 13: 81,578,230 L559F probably benign Het
Cdk17 A G 10: 93,232,416 Y312C probably damaging Het
Cemip A G 7: 83,947,280 I1092T possibly damaging Het
Col20a1 G T 2: 181,003,479 V885F possibly damaging Het
Dcc A G 18: 71,809,195 S284P probably benign Het
Ercc4 T C 16: 13,125,369 V284A possibly damaging Het
Fam184b A T 5: 45,555,192 probably null Het
Fbln7 G A 2: 128,893,851 R253Q possibly damaging Het
Gfm2 T C 13: 97,149,339 F112S probably damaging Het
Gxylt1 C T 15: 93,254,392 R222H probably damaging Het
Madd T C 2: 91,146,928 I1385V probably benign Het
Pkn3 C A 2: 30,083,390 probably benign Het
Sppl2a T A 2: 126,919,720 N288I probably benign Het
St14 A G 9: 31,103,779 S308P probably damaging Het
Syne2 C A 12: 76,024,062 P4430T probably benign Het
Taf6l C T 19: 8,773,661 G43D probably damaging Het
Trim11 T C 11: 58,990,697 L472P probably benign Het
Other mutations in Usp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01574:Usp2 APN 9 44093803 missense probably damaging 1.00
IGL02103:Usp2 APN 9 44089128 intron probably benign
IGL02391:Usp2 APN 9 44091227 missense probably damaging 1.00
R0385:Usp2 UTSW 9 44092750 missense probably damaging 0.99
R0555:Usp2 UTSW 9 44092784 missense probably damaging 1.00
R0614:Usp2 UTSW 9 44092492 nonsense probably null
R1553:Usp2 UTSW 9 44092155 missense probably damaging 0.99
R1851:Usp2 UTSW 9 44075966 missense probably benign 0.00
R2437:Usp2 UTSW 9 44092148 missense probably damaging 0.98
R3962:Usp2 UTSW 9 44075657 missense possibly damaging 0.82
R4392:Usp2 UTSW 9 44091259 missense probably damaging 1.00
R4411:Usp2 UTSW 9 44091063 missense probably damaging 1.00
R4894:Usp2 UTSW 9 44075828 missense probably benign 0.03
R4960:Usp2 UTSW 9 44075813 missense probably damaging 1.00
R5482:Usp2 UTSW 9 44089183 critical splice donor site probably null
R5496:Usp2 UTSW 9 44085208 missense possibly damaging 0.95
R5932:Usp2 UTSW 9 44092333 missense probably benign
R6956:Usp2 UTSW 9 44092756 missense probably damaging 1.00
Posted On2012-12-06