Incidental Mutation 'R5387:Usp15'
ID 425345
Institutional Source Beutler Lab
Gene Symbol Usp15
Ensembl Gene ENSMUSG00000020124
Gene Name ubiquitin specific peptidase 15
Synonyms Gcap18, E430033I05Rik, 4921514G19Rik
MMRRC Submission 042959-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5387 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 122940911-123032900 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122967191 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 405 (I405T)
Ref Sequence ENSEMBL: ENSMUSP00000151244 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020334] [ENSMUST00000220377]
AlphaFold Q8R5H1
Predicted Effect probably benign
Transcript: ENSMUST00000020334
AA Change: I376T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000020334
Gene: ENSMUSG00000020124
AA Change: I376T

DomainStartEndE-ValueType
DUSP 23 121 1.5e-46 SMART
Pfam:Ubiquitin_3 135 222 3.7e-38 PFAM
low complexity region 242 262 N/A INTRINSIC
Pfam:UCH 288 930 6.8e-86 PFAM
Pfam:UCH_1 289 506 1.1e-5 PFAM
Pfam:USP7_C2 460 608 2e-7 PFAM
Pfam:UCH_1 756 912 1.3e-11 PFAM
low complexity region 959 976 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218079
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219413
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219937
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219992
Predicted Effect probably damaging
Transcript: ENSMUST00000220377
AA Change: I405T

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
Meta Mutation Damage Score 0.2307 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 99% (80/81)
MGI Phenotype FUNCTION: The protein encoded by this gene is a member of the large ubiquitin specific protease (Usp) family of proteins. These proteins are known to cleave ubiquitin, and contain a conserved cysteine residue (Cys box) and two conserved histidine residues (His box) that are thought to form part of the active site of the protease. This protein has been shown to cleave both the ubiquitin-proline and the ubiquitin-methionine bonds in vitro. This protein is thought to regulate many cellular processes through its deubiquitination activity, including the transforming growth factor beta (TGF-beta) pathway. Cardiac-specific overexpression of the human ortholog of this gene in mice causes enlargement of the heart that is more pronounced in the atrium than in the ventricle. This gene has two pseudogenes on chromosome 14. Alternative splicing results in multiple transcript variants that encode multiple protein isoforms.[provided by RefSeq, Aug 2014]
PHENOTYPE: Mice homozygous for a knock-out allele or ENU induced allele exhibit resistance to pathological neuroinflammation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T A 13: 77,408,092 (GRCm39) S140T probably benign Het
Ahnak T C 19: 8,981,055 (GRCm39) S780P probably damaging Het
Ankhd1 C A 18: 36,767,697 (GRCm39) H1205N probably damaging Het
Ano1 T C 7: 144,202,356 (GRCm39) K139R probably benign Het
Anp32b T G 4: 46,468,573 (GRCm39) C114W probably damaging Het
Ascl1 C T 10: 87,328,551 (GRCm39) A134T probably damaging Het
Atl2 C T 17: 80,160,229 (GRCm39) E453K probably benign Het
Aup1 C T 6: 83,032,005 (GRCm39) A84V probably damaging Het
Btbd7 A T 12: 102,804,044 (GRCm39) M332K probably damaging Het
Cacna1d A G 14: 29,822,708 (GRCm39) V1107A probably damaging Het
Cd33 G A 7: 43,181,477 (GRCm39) Q114* probably null Het
Cdhr18 C A 14: 13,914,438 (GRCm38) M1I probably null Het
Col4a4 C T 1: 82,471,312 (GRCm39) G681E unknown Het
Defb22 C A 2: 152,327,826 (GRCm39) A120S unknown Het
Dnah7b A G 1: 46,227,819 (GRCm39) I1347M probably damaging Het
Efcab5 A G 11: 77,025,668 (GRCm39) I549T possibly damaging Het
Esp15 T A 17: 39,955,468 (GRCm39) probably null Het
Fbxo7 A G 10: 85,860,518 (GRCm39) T42A probably benign Het
Filip1 A G 9: 79,725,556 (GRCm39) I1021T probably benign Het
Gad1 C A 2: 70,394,195 (GRCm39) S7* probably null Het
H2ac7 T A 13: 23,758,841 (GRCm39) probably null Het
H2-Q7 C T 17: 35,658,518 (GRCm39) T52M probably damaging Het
H2-T3 C T 17: 36,497,594 (GRCm39) G28R probably benign Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ift81 A G 5: 122,693,598 (GRCm39) Y604H probably damaging Het
Igsf11 A G 16: 38,842,785 (GRCm39) Y154C probably damaging Het
Kif26b G T 1: 178,742,441 (GRCm39) A846S probably benign Het
Lnx2 G A 5: 146,964,964 (GRCm39) P420S probably benign Het
Lrit2 A G 14: 36,794,216 (GRCm39) T427A probably damaging Het
Lrrc43 G T 5: 123,637,734 (GRCm39) probably null Het
Mettl25b A T 3: 87,837,318 (GRCm39) probably benign Het
Mug1 T C 6: 121,861,353 (GRCm39) Y1325H probably damaging Het
Naglu A T 11: 100,967,550 (GRCm39) Y500F probably damaging Het
Npy4r A G 14: 33,868,940 (GRCm39) M116T probably benign Het
Nrdc A G 4: 108,896,959 (GRCm39) Y526C probably damaging Het
Nrp2 T C 1: 62,801,972 (GRCm39) S472P probably benign Het
Or12d2 T A 17: 37,625,183 (GRCm39) T31S probably benign Het
Or12k8 T C 2: 36,975,731 (GRCm39) T10A possibly damaging Het
Otogl T A 10: 107,616,794 (GRCm39) T1828S probably benign Het
Pank2 C T 2: 131,116,182 (GRCm39) T200I probably benign Het
Pbrm1 A G 14: 30,804,567 (GRCm39) Y946C probably damaging Het
Pde12 A T 14: 26,387,608 (GRCm39) S437T probably benign Het
Pikfyve A G 1: 65,304,427 (GRCm39) K1710E possibly damaging Het
Plcd3 A G 11: 102,969,281 (GRCm39) S229P probably damaging Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Prkaa2 C A 4: 104,897,374 (GRCm39) D280Y probably damaging Het
Ptprg T A 14: 12,153,873 (GRCm38) S531R probably damaging Het
R3hdm2 T C 10: 127,321,303 (GRCm39) S620P probably damaging Het
Rab33b A G 3: 51,400,876 (GRCm39) T117A probably damaging Het
Rasal2 T C 1: 156,985,335 (GRCm39) D804G possibly damaging Het
Rbp3 A G 14: 33,678,370 (GRCm39) T773A possibly damaging Het
Rspry1 A G 8: 95,364,914 (GRCm39) T185A possibly damaging Het
Sec61a2 G T 2: 5,887,356 (GRCm39) probably benign Het
Setx C T 2: 29,037,606 (GRCm39) R1364C probably benign Het
Shtn1 G T 19: 59,026,801 (GRCm39) L97M probably damaging Het
Slc35f1 T C 10: 52,984,260 (GRCm39) L340P probably damaging Het
Slc45a1 T A 4: 150,728,366 (GRCm39) probably benign Het
Slmap T C 14: 26,181,088 (GRCm39) E386G probably benign Het
Smc2 C T 4: 52,475,096 (GRCm39) A924V probably benign Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Tecta G A 9: 42,286,359 (GRCm39) L766F probably damaging Het
Tle3 C T 9: 61,314,771 (GRCm39) probably null Het
Top3a A G 11: 60,653,316 (GRCm39) F53L probably damaging Het
Trappc2b A T 11: 51,576,801 (GRCm39) D32E probably benign Het
Trem1 T C 17: 48,548,541 (GRCm39) I26T possibly damaging Het
Ttc7b G T 12: 100,413,222 (GRCm39) Q199K possibly damaging Het
Ubap2l T C 3: 89,913,903 (GRCm39) Y975C probably benign Het
Ubxn11 C A 4: 133,850,737 (GRCm39) D196E probably damaging Het
Unc80 A G 1: 66,569,180 (GRCm39) H945R possibly damaging Het
Uty C T Y: 1,189,339 (GRCm39) E138K probably damaging Het
Wapl A G 14: 34,399,252 (GRCm39) E107G probably benign Het
Wbp1l T C 19: 46,632,896 (GRCm39) probably null Het
Zfp184 T G 13: 22,133,810 (GRCm39) probably benign Het
Zfp36 A C 7: 28,077,293 (GRCm39) L205R possibly damaging Het
Other mutations in Usp15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00498:Usp15 APN 10 122,949,501 (GRCm39) missense probably benign 0.00
IGL02148:Usp15 APN 10 122,963,742 (GRCm39) missense probably damaging 1.00
IGL02737:Usp15 APN 10 122,966,937 (GRCm39) missense probably damaging 1.00
IGL03054:Usp15 APN 10 122,961,836 (GRCm39) splice site probably benign
IGL03163:Usp15 APN 10 123,007,049 (GRCm39) missense probably damaging 0.96
R1755:Usp15 UTSW 10 122,968,949 (GRCm39) missense probably damaging 0.98
R1981:Usp15 UTSW 10 122,960,946 (GRCm39) splice site probably benign
R2049:Usp15 UTSW 10 122,955,042 (GRCm39) missense probably damaging 1.00
R3037:Usp15 UTSW 10 122,999,522 (GRCm39) missense probably damaging 1.00
R3698:Usp15 UTSW 10 123,017,643 (GRCm39) missense probably damaging 1.00
R3828:Usp15 UTSW 10 123,032,775 (GRCm39) missense possibly damaging 0.95
R3845:Usp15 UTSW 10 122,955,040 (GRCm39) missense probably damaging 1.00
R4838:Usp15 UTSW 10 122,963,662 (GRCm39) missense probably damaging 0.99
R4954:Usp15 UTSW 10 122,967,303 (GRCm39) missense probably damaging 1.00
R5204:Usp15 UTSW 10 122,949,545 (GRCm39) missense probably benign 0.06
R5274:Usp15 UTSW 10 123,004,256 (GRCm39) missense probably damaging 1.00
R5474:Usp15 UTSW 10 122,963,950 (GRCm39) missense probably damaging 1.00
R5501:Usp15 UTSW 10 123,011,804 (GRCm39) missense probably damaging 0.99
R5665:Usp15 UTSW 10 122,966,892 (GRCm39) nonsense probably null
R5846:Usp15 UTSW 10 123,017,647 (GRCm39) missense probably damaging 1.00
R5850:Usp15 UTSW 10 122,960,417 (GRCm39) critical splice donor site probably null
R6163:Usp15 UTSW 10 123,004,210 (GRCm39) missense probably damaging 1.00
R6735:Usp15 UTSW 10 123,004,272 (GRCm39) missense possibly damaging 0.86
R6828:Usp15 UTSW 10 122,963,894 (GRCm39) missense probably damaging 1.00
R7170:Usp15 UTSW 10 123,007,100 (GRCm39) missense probably damaging 1.00
R7197:Usp15 UTSW 10 122,966,910 (GRCm39) missense possibly damaging 0.92
R7351:Usp15 UTSW 10 122,968,904 (GRCm39) missense probably damaging 1.00
R7368:Usp15 UTSW 10 123,032,798 (GRCm39) missense possibly damaging 0.86
R7447:Usp15 UTSW 10 123,011,786 (GRCm39) missense probably damaging 1.00
R8099:Usp15 UTSW 10 122,982,826 (GRCm39) missense possibly damaging 0.87
R8169:Usp15 UTSW 10 122,961,798 (GRCm39) missense
R8316:Usp15 UTSW 10 122,959,848 (GRCm39) missense
R8795:Usp15 UTSW 10 122,988,953 (GRCm39) missense probably benign 0.00
R9005:Usp15 UTSW 10 122,982,703 (GRCm39) missense possibly damaging 0.89
R9023:Usp15 UTSW 10 122,961,498 (GRCm39) missense possibly damaging 0.85
R9156:Usp15 UTSW 10 122,949,553 (GRCm39) missense probably benign 0.13
R9198:Usp15 UTSW 10 123,004,143 (GRCm39) missense probably damaging 1.00
R9278:Usp15 UTSW 10 123,007,112 (GRCm39) missense probably damaging 0.96
R9592:Usp15 UTSW 10 122,999,522 (GRCm39) missense probably damaging 1.00
Z1176:Usp15 UTSW 10 123,032,866 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- CGTAGACTTGAAAAGGCCATGG -3'
(R):5'- TAAACTGAGAGCAAGCATGTGC -3'

Sequencing Primer
(F):5'- GCCATGGAATATGTCTACTATGATGG -3'
(R):5'- CATGTGCTTTTTCAGGAGCC -3'
Posted On 2016-08-04