Incidental Mutation 'R7170:Usp15'
ID 558203
Institutional Source Beutler Lab
Gene Symbol Usp15
Ensembl Gene ENSMUSG00000020124
Gene Name ubiquitin specific peptidase 15
Synonyms Gcap18, E430033I05Rik, 4921514G19Rik
MMRRC Submission 045332-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7170 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 122940911-123032900 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 123007100 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 127 (C127F)
Ref Sequence ENSEMBL: ENSMUSP00000151244 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020334] [ENSMUST00000220377]
AlphaFold Q8R5H1
Predicted Effect probably damaging
Transcript: ENSMUST00000020334
AA Change: C127F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020334
Gene: ENSMUSG00000020124
AA Change: C127F

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 probably benign
Transcript: ENSMUST00000219619
Predicted Effect probably damaging
Transcript: ENSMUST00000220377
AA Change: C127F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (81/81)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T C 11: 109,836,654 (GRCm39) T1214A probably benign Het
Acte1 T C 7: 143,450,102 (GRCm39) S285P probably damaging Het
Adgrf5 G A 17: 43,757,029 (GRCm39) V708M possibly damaging Het
Akap9 C G 5: 4,018,745 (GRCm39) H1109D probably benign Het
Ankrd7 T A 6: 18,868,389 (GRCm39) Y170* probably null Het
Aplp2 T C 9: 31,081,739 (GRCm39) D236G probably benign Het
Apoa5 T C 9: 46,181,437 (GRCm39) M171T probably benign Het
Bcas3 T C 11: 85,386,744 (GRCm39) V393A probably damaging Het
Ccdc47 T C 11: 106,093,304 (GRCm39) N370S probably benign Het
Cfap77 A T 2: 28,875,854 (GRCm39) Y85* probably null Het
Col4a3 G A 1: 82,693,630 (GRCm39) probably null Het
Crnn T A 3: 93,056,020 (GRCm39) S269T possibly damaging Het
Crocc2 G A 1: 93,121,704 (GRCm39) A618T possibly damaging Het
D030056L22Rik A G 19: 18,690,737 (GRCm39) K17R possibly damaging Het
Emx1 G A 6: 85,164,983 (GRCm39) G20D probably benign Het
Fabp3 A G 4: 130,207,763 (GRCm39) D88G probably benign Het
Fam124a A C 14: 62,824,629 (GRCm39) D41A probably damaging Het
Fanca T C 8: 123,997,945 (GRCm39) E1247G probably damaging Het
Fat3 T C 9: 15,917,870 (GRCm39) R1518G probably damaging Het
Fgf12 T C 16: 28,263,931 (GRCm39) I5V probably benign Het
Fscn2 C A 11: 120,253,335 (GRCm39) N267K probably damaging Het
Ftdc1 G T 16: 58,436,091 (GRCm39) C77* probably null Het
Fubp3 A G 2: 31,488,632 (GRCm39) T163A probably benign Het
Gask1a G T 9: 121,807,301 (GRCm39) A482S probably damaging Het
Gne A G 4: 44,040,361 (GRCm39) L601P possibly damaging Het
Gphn T C 12: 78,730,663 (GRCm39) V766A possibly damaging Het
Hsf1 G T 15: 76,384,221 (GRCm39) G402C probably damaging Het
Ift81 A T 5: 122,693,596 (GRCm39) Y604* probably null Het
Iqgap3 T A 3: 88,009,370 (GRCm39) I768N probably damaging Het
Kazald1 A T 19: 45,066,855 (GRCm39) D218V probably benign Het
Kmt2a T C 9: 44,722,018 (GRCm39) N3776D unknown Het
Ktn1 T C 14: 47,943,867 (GRCm39) L872S probably damaging Het
Lama3 T G 18: 12,537,133 (GRCm39) F259L probably benign Het
Mfsd6 A G 1: 52,701,547 (GRCm39) probably null Het
Mical3 A T 6: 120,950,694 (GRCm39) probably null Het
Mob3b A G 4: 35,083,839 (GRCm39) Y117H probably damaging Het
Mrpl2 G A 17: 46,959,181 (GRCm39) G95D probably damaging Het
Mstn A T 1: 53,105,554 (GRCm39) I299F probably damaging Het
Mta3 C T 17: 84,022,091 (GRCm39) R49W probably damaging Het
Mylk3 A G 8: 86,077,114 (GRCm39) F574L probably damaging Het
Naca T A 10: 127,875,990 (GRCm39) S341T unknown Het
Ncoa1 T C 12: 4,299,722 (GRCm39) D1401G probably benign Het
Nedd4 T A 9: 72,577,381 (GRCm39) Y69N probably benign Het
Nin T C 12: 70,091,013 (GRCm39) T801A Het
Nsd1 T A 13: 55,409,439 (GRCm39) L1336* probably null Het
Nudt16l2 C A 9: 105,020,600 (GRCm39) probably null Het
Oprk1 G A 1: 5,672,619 (GRCm39) R252H probably damaging Het
Or4c10b A T 2: 89,711,397 (GRCm39) T76S possibly damaging Het
Or4c10b A G 2: 89,711,185 (GRCm39) N5S probably benign Het
Or5w15 C T 2: 87,568,056 (GRCm39) G204D probably damaging Het
Pcdhga11 T C 18: 37,889,717 (GRCm39) F242L probably damaging Het
Pof1b A G X: 111,554,042 (GRCm39) I544T probably benign Het
Pold1 T C 7: 44,191,572 (GRCm39) H138R possibly damaging Het
Ptprd A T 4: 75,990,199 (GRCm39) D504E probably benign Het
Rabgap1l A G 1: 160,472,935 (GRCm39) V501A probably damaging Het
Rimklb T C 6: 122,429,697 (GRCm39) N233S probably benign Het
Rnf213 A G 11: 119,343,401 (GRCm39) I3589V Het
Rora T A 9: 69,280,472 (GRCm39) C348* probably null Het
Sdhaf3 T C 6: 6,956,043 (GRCm39) V6A probably benign Het
Serpina3m T A 12: 104,355,777 (GRCm39) L148Q probably damaging Het
Sik1 T C 17: 32,067,746 (GRCm39) D443G possibly damaging Het
Sim2 A G 16: 93,923,559 (GRCm39) T366A probably benign Het
Slc32a1 T C 2: 158,453,243 (GRCm39) F28L probably damaging Het
Sorbs1 A T 19: 40,314,573 (GRCm39) Y746* probably null Het
Speer4b T A 5: 27,703,821 (GRCm39) N106I possibly damaging Het
Sphkap A G 1: 83,243,706 (GRCm39) S1269P probably damaging Het
Tcf4 T C 18: 69,766,649 (GRCm39) V205A probably damaging Het
Thsd7a C T 6: 12,352,090 (GRCm39) R1035H Het
Tmprss11c A T 5: 86,385,478 (GRCm39) probably null Het
Trim50 A G 5: 135,396,365 (GRCm39) T438A probably benign Het
Ttc21a C T 9: 119,774,607 (GRCm39) P287L probably damaging Het
Ttc41 C T 10: 86,549,367 (GRCm39) S187L probably benign Het
Ttll3 C T 6: 113,390,839 (GRCm39) P807L probably benign Het
Ttn A C 2: 76,597,696 (GRCm39) V19739G probably benign Het
Vmn2r100 G T 17: 19,752,233 (GRCm39) A822S probably benign Het
Zan A T 5: 137,461,756 (GRCm39) V1141D unknown Het
Zfp457 A T 13: 67,442,241 (GRCm39) C111* probably null Het
Zfp758 C T 17: 22,594,116 (GRCm39) Q201* probably null Het
Zkscan2 T C 7: 123,099,030 (GRCm39) E54G 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
R5387:Usp15 UTSW 10 122,967,191 (GRCm39) missense probably damaging 0.96
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
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'- GTTAACACCACAGTAGCCTACG -3'
(R):5'- TGTATCGAGAAAGCTTGTGTACAG -3'

Sequencing Primer
(F):5'- GTAGCCTACGACCAAGAATCAC -3'
(R):5'- GATGTGTTACTATGAGAATGCAT -3'
Posted On 2019-06-26