Incidental Mutation 'IGL02391:Usp2'
ID 293857
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp2
Ensembl Gene ENSMUSG00000032010
Gene Name ubiquitin specific peptidase 2
Synonyms ubp41, B930035K21Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02391
Quality Score
Status
Chromosome 9
Chromosomal Location 43978318-44006924 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 44002524 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 147 (Q147H)
Ref Sequence ENSEMBL: ENSMUSP00000135482 (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 possibly damaging
Transcript: ENSMUST00000034508
AA Change: Q373H

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000034508
Gene: ENSMUSG00000032010
AA Change: Q373H

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: Q150H

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000070264
Gene: ENSMUSG00000032010
AA Change: Q150H

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 possibly damaging
Transcript: ENSMUST00000114830
AA Change: Q373H

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000110479
Gene: ENSMUSG00000032010
AA Change: Q373H

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: Q147H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135482
Gene: ENSMUSG00000032010
AA Change: Q147H

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 possibly damaging
Transcript: ENSMUST00000177054
AA Change: Q373H

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000135018
Gene: ENSMUSG00000032010
AA Change: Q373H

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 noncoding transcript
Transcript: ENSMUST00000176022
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162196
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
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 T A 14: 118,790,764 (GRCm39) N748Y probably damaging Het
Actbl2 A G 13: 111,391,701 (GRCm39) D12G possibly damaging Het
Adamts10 T C 17: 33,747,785 (GRCm39) S74P probably benign Het
Adprs C T 4: 126,211,701 (GRCm39) probably benign Het
Amn1 A G 6: 149,070,944 (GRCm39) probably null Het
Antxr1 A T 6: 87,264,038 (GRCm39) I144N probably damaging Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Cabp5 A T 7: 13,132,269 (GRCm39) R13* probably null Het
Cacna1e A G 1: 154,296,859 (GRCm39) Y1669H probably damaging Het
Ccdc174 A G 6: 91,875,263 (GRCm39) E364G possibly damaging Het
Ccdc18 C T 5: 108,283,918 (GRCm39) P74S probably damaging Het
Clec3a C T 8: 115,152,240 (GRCm39) S82L probably benign Het
Cnih3 A G 1: 181,234,078 (GRCm39) D43G probably damaging Het
Dpp10 G A 1: 123,578,087 (GRCm39) T128M probably damaging Het
Edar A T 10: 58,464,403 (GRCm39) F79I probably damaging Het
Eif2ak4 T A 2: 118,251,272 (GRCm39) H199Q probably benign Het
Fermt1 A G 2: 132,783,871 (GRCm39) L46P probably damaging Het
Glipr1 A G 10: 111,824,799 (GRCm39) probably benign Het
Gsdmc T C 15: 63,675,428 (GRCm39) N129S probably damaging Het
Ift88 T C 14: 57,718,871 (GRCm39) S619P possibly damaging Het
Itga9 T A 9: 118,679,873 (GRCm39) V262E probably benign Het
Med17 G A 9: 15,188,963 (GRCm39) R101* probably null Het
Mta1 T A 12: 113,100,203 (GRCm39) I688N possibly damaging Het
Muc4 A T 16: 32,570,894 (GRCm39) R651S probably benign Het
Opcml A G 9: 28,586,560 (GRCm39) I93V probably damaging Het
Or12d17 C T 17: 37,777,477 (GRCm39) P127S probably damaging Het
Or13p4 A G 4: 118,547,538 (GRCm39) L37P probably damaging Het
Or9r7 A G 10: 129,962,773 (GRCm39) V51A possibly damaging Het
Parg T G 14: 31,984,638 (GRCm39) probably null Het
Rps3a3 A G 13: 108,807,417 (GRCm39) probably benign Het
Safb T A 17: 56,907,813 (GRCm39) probably benign Het
Sat2 G T 11: 69,513,575 (GRCm39) C54F probably damaging Het
Scin T A 12: 40,127,530 (GRCm39) Y420F probably benign Het
Slc22a29 A T 19: 8,146,717 (GRCm39) S362T probably benign Het
Smchd1 T C 17: 71,738,254 (GRCm39) D537G probably null Het
Spred3 A G 7: 28,865,830 (GRCm39) S126P probably benign Het
Ssh1 C T 5: 114,080,578 (GRCm39) E951K probably damaging Het
Ssmem1 A G 6: 30,512,441 (GRCm39) E28G possibly damaging Het
Stox1 A T 10: 62,495,455 (GRCm39) probably benign Het
Syn3 T C 10: 85,900,770 (GRCm39) I373V probably benign Het
Tecrl A T 5: 83,502,674 (GRCm39) F58L probably benign Het
Trp53bp1 T C 2: 121,033,191 (GRCm39) N1655S possibly damaging Het
Usp24 T A 4: 106,264,326 (GRCm39) N1751K possibly damaging Het
Wipf1 T A 2: 73,264,487 (GRCm39) D438V probably damaging 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
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
R4392:Usp2 UTSW 9 44,002,556 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-04-16