Incidental Mutation 'R0827:Adamts15'
ID 78323
Institutional Source Beutler Lab
Gene Symbol Adamts15
Ensembl Gene ENSMUSG00000033453
Gene Name ADAM metallopeptidase with thrombospondin type 1 motif 15
Synonyms
MMRRC Submission 039007-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0827 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 30810451-30833748 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30832776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 253 (Y253C)
Ref Sequence ENSEMBL: ENSMUSP00000067022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065112] [ENSMUST00000216215]
AlphaFold P59384
Predicted Effect probably damaging
Transcript: ENSMUST00000065112
AA Change: Y253C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000067022
Gene: ENSMUSG00000033453
AA Change: Y253C

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Pep_M12B_propep 24 157 8.7e-27 PFAM
Pfam:Reprolysin_4 216 422 8.2e-7 PFAM
Pfam:Reprolysin_5 217 404 7.2e-13 PFAM
Pfam:Reprolysin 218 427 3.7e-20 PFAM
Pfam:Reprolysin_3 240 372 6.1e-10 PFAM
Blast:ACR 429 507 1e-25 BLAST
TSP1 519 571 7.85e-12 SMART
Pfam:ADAM_spacer1 683 801 7.1e-36 PFAM
TSP1 842 895 3e-8 SMART
TSP1 896 949 4.21e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000216215
Meta Mutation Damage Score 0.9607 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 93.6%
Validation Efficiency 100% (88/88)
MGI Phenotype FUNCTION: This gene encodes a member of "a disintegrin and metalloproteinase with thrombospondin motifs" (ADAMTS) family of multi-domain matrix-associated metalloendopeptidases that have diverse roles in tissue morphogenesis and pathophysiological remodeling, in inflammation and in vascular biology. The encoded preproprotein undergoes proteolytic processing to generate an active versicanase enzyme. This gene is located adjacent to a related ADAMTS gene (Adamts8) on chromosome 9. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan T C 7: 78,749,419 (GRCm39) S1397P probably benign Het
Ankk1 A G 9: 49,333,037 (GRCm39) I149T possibly damaging Het
Ankrd63 A G 2: 118,533,034 (GRCm39) S296P possibly damaging Het
Arpc1b T G 5: 145,062,566 (GRCm39) C227G probably benign Het
B4gat1 A G 19: 5,089,725 (GRCm39) R241G possibly damaging Het
Ccar2 T C 14: 70,377,287 (GRCm39) N751D probably benign Het
Cd55b T C 1: 130,341,973 (GRCm39) I221M probably damaging Het
Cntn5 A G 9: 9,666,943 (GRCm39) V1032A possibly damaging Het
Col11a1 G A 3: 113,932,414 (GRCm39) R113H unknown Het
Colec10 G A 15: 54,325,980 (GRCm39) C270Y probably damaging Het
Ctnnbl1 C T 2: 157,641,337 (GRCm39) probably benign Het
Cyp2j12 T G 4: 96,001,099 (GRCm39) probably benign Het
Dennd5a G A 7: 109,498,938 (GRCm39) T999M probably damaging Het
Dusp13b C A 14: 21,792,839 (GRCm39) V29L probably benign Het
Efr3a A C 15: 65,725,400 (GRCm39) D83A possibly damaging Het
Elmod2 A G 8: 84,043,424 (GRCm39) probably null Het
Eml3 C A 19: 8,915,830 (GRCm39) T640K probably damaging Het
Eps8l1 T C 7: 4,480,388 (GRCm39) V543A possibly damaging Het
Ermn T C 2: 57,938,263 (GRCm39) K117E probably damaging Het
F830045P16Rik A G 2: 129,314,696 (GRCm39) S194P probably benign Het
Faim2 A G 15: 99,422,617 (GRCm39) V60A probably benign Het
Fancd2 G A 6: 113,563,210 (GRCm39) probably null Het
Fbxo43 A T 15: 36,163,115 (GRCm39) S31T possibly damaging Het
Gab2 G A 7: 96,949,539 (GRCm39) R411Q probably damaging Het
Gpm6a A T 8: 55,511,918 (GRCm39) D264V probably damaging Het
H1f6 A G 13: 23,880,204 (GRCm39) D119G probably benign Het
Hsp90aa1 T C 12: 110,659,129 (GRCm39) E556G probably benign Het
Ifi203 A T 1: 173,756,029 (GRCm39) probably benign Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Kcnc3 A G 7: 44,244,630 (GRCm39) T307A probably damaging Het
Kin C A 2: 10,095,187 (GRCm39) probably benign Het
Knl1 T C 2: 118,919,382 (GRCm39) probably benign Het
Lrp4 G A 2: 91,325,386 (GRCm39) V1404M probably damaging Het
Lrrc71 T A 3: 87,649,952 (GRCm39) probably null Het
Med13l T C 5: 118,864,312 (GRCm39) probably benign Het
Mfap5 A G 6: 122,497,879 (GRCm39) D39G probably damaging Het
Mlxipl T C 5: 135,161,592 (GRCm39) S504P probably benign Het
Myo3a T G 2: 22,448,227 (GRCm39) Y1D probably damaging Het
Nek1 A G 8: 61,558,682 (GRCm39) probably benign Het
Nfkbiz T C 16: 55,636,730 (GRCm39) R524G probably damaging Het
Npbwr1 T C 1: 5,987,008 (GRCm39) T169A possibly damaging Het
Nuggc T C 14: 65,846,340 (GRCm39) Y84H probably damaging Het
Nxph3 G A 11: 95,402,252 (GRCm39) S54L probably benign Het
Or13a21 A G 7: 139,999,380 (GRCm39) F102S probably damaging Het
Or9e1 T C 11: 58,732,597 (GRCm39) I219T probably damaging Het
Ostn A G 16: 27,143,381 (GRCm39) N70D probably damaging Het
Pate7 A T 9: 35,689,147 (GRCm39) L12Q probably damaging Het
Pcdhb2 G A 18: 37,428,710 (GRCm39) V228I possibly damaging Het
Pnpla6 A T 8: 3,567,618 (GRCm39) M109L possibly damaging Het
Ppil6 T A 10: 41,370,500 (GRCm39) probably benign Het
Prss46 A G 9: 110,680,500 (GRCm39) N215S probably benign Het
Ptprd A T 4: 76,047,152 (GRCm39) D371E probably damaging Het
Ripor2 T A 13: 24,878,169 (GRCm39) F315I probably damaging Het
Rmi2 G A 16: 10,653,104 (GRCm39) G51S probably damaging Het
Scg3 A G 9: 75,590,979 (GRCm39) I10T possibly damaging Het
Scn9a T A 2: 66,366,468 (GRCm39) K761* probably null Het
Scyl2 A G 10: 89,493,727 (GRCm39) L347P possibly damaging Het
Sh3d21 A G 4: 126,046,064 (GRCm39) probably benign Het
Shc1 T A 3: 89,334,090 (GRCm39) probably null Het
Slbp A G 5: 33,801,166 (GRCm39) S182P probably damaging Het
Slc24a1 C T 9: 64,835,472 (GRCm39) G885D probably benign Het
Slc24a3 T C 2: 145,360,412 (GRCm39) probably benign Het
Sowahb T G 5: 93,191,145 (GRCm39) N525H probably damaging Het
Sppl3 T A 5: 115,220,392 (GRCm39) C101* probably null Het
Srsf5 A G 12: 80,996,314 (GRCm39) K163E probably damaging Het
Sult2a4 A G 7: 13,718,886 (GRCm39) I119T probably benign Het
Svep1 A G 4: 58,053,113 (GRCm39) probably benign Het
Tas1r3 G A 4: 155,945,326 (GRCm39) R632W probably benign Het
Tlr4 T A 4: 66,752,117 (GRCm39) probably null Het
Tmf1 A C 6: 97,135,011 (GRCm39) L1001* probably null Het
Tnnt2 A G 1: 135,771,534 (GRCm39) probably benign Het
Trank1 G A 9: 111,178,485 (GRCm39) probably benign Het
Trdn A T 10: 33,275,154 (GRCm39) probably benign Het
Trmt6 A T 2: 132,657,754 (GRCm39) V34E probably damaging Het
Trrap T C 5: 144,751,640 (GRCm39) F1699L probably benign Het
Ttk A G 9: 83,725,968 (GRCm39) R250G probably benign Het
Ttn T A 2: 76,640,248 (GRCm39) I13787F probably damaging Het
Uggt1 T A 1: 36,195,394 (GRCm39) probably null Het
Ugt2b35 T A 5: 87,155,989 (GRCm39) probably benign Het
Ugt2b36 C A 5: 87,214,234 (GRCm39) R470L possibly damaging Het
Unk A G 11: 115,943,935 (GRCm39) D352G possibly damaging Het
Vmn2r77 G T 7: 86,451,224 (GRCm39) C370F probably damaging Het
Vmn2r85 A G 10: 130,265,387 (GRCm39) I32T possibly damaging Het
Zfp637 A G 6: 117,822,405 (GRCm39) I178V possibly damaging Het
Zfp943 A G 17: 22,211,071 (GRCm39) probably null Het
Zyg11a A G 4: 108,067,239 (GRCm39) probably benign Het
Other mutations in Adamts15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00930:Adamts15 APN 9 30,813,349 (GRCm39) missense probably damaging 1.00
IGL01325:Adamts15 APN 9 30,832,984 (GRCm39) missense possibly damaging 0.86
IGL01506:Adamts15 APN 9 30,833,430 (GRCm39) missense probably benign 0.08
IGL01897:Adamts15 APN 9 30,813,448 (GRCm39) missense probably damaging 1.00
IGL02137:Adamts15 APN 9 30,821,956 (GRCm39) missense probably damaging 1.00
IGL02876:Adamts15 APN 9 30,815,818 (GRCm39) missense probably damaging 0.98
IGL02997:Adamts15 APN 9 30,817,353 (GRCm39) splice site probably benign
IGL03094:Adamts15 APN 9 30,815,768 (GRCm39) splice site probably benign
IGL03146:Adamts15 APN 9 30,832,863 (GRCm39) missense probably damaging 0.99
IGL03241:Adamts15 APN 9 30,815,781 (GRCm39) missense probably damaging 1.00
Awareness UTSW 9 30,822,404 (GRCm39) critical splice donor site probably null
heightened UTSW 9 30,816,066 (GRCm39) missense probably damaging 1.00
Pugsley UTSW 9 30,817,454 (GRCm39) missense probably damaging 1.00
sparticus UTSW 9 30,821,898 (GRCm39) missense probably benign 0.40
R0118:Adamts15 UTSW 9 30,823,040 (GRCm39) missense probably damaging 1.00
R0635:Adamts15 UTSW 9 30,816,066 (GRCm39) missense probably damaging 1.00
R0946:Adamts15 UTSW 9 30,813,493 (GRCm39) missense probably damaging 1.00
R1608:Adamts15 UTSW 9 30,813,775 (GRCm39) missense probably damaging 0.99
R1806:Adamts15 UTSW 9 30,816,111 (GRCm39) missense probably damaging 1.00
R1954:Adamts15 UTSW 9 30,822,004 (GRCm39) missense probably benign
R1967:Adamts15 UTSW 9 30,832,605 (GRCm39) nonsense probably null
R2009:Adamts15 UTSW 9 30,833,433 (GRCm39) missense probably benign 0.17
R2129:Adamts15 UTSW 9 30,815,799 (GRCm39) missense probably benign 0.05
R2329:Adamts15 UTSW 9 30,813,781 (GRCm39) missense probably damaging 1.00
R2991:Adamts15 UTSW 9 30,832,690 (GRCm39) missense probably benign
R3970:Adamts15 UTSW 9 30,821,898 (GRCm39) missense probably benign 0.40
R4212:Adamts15 UTSW 9 30,817,470 (GRCm39) missense probably damaging 0.99
R4326:Adamts15 UTSW 9 30,815,814 (GRCm39) missense probably benign
R4329:Adamts15 UTSW 9 30,815,814 (GRCm39) missense probably benign
R4594:Adamts15 UTSW 9 30,832,743 (GRCm39) missense probably damaging 0.99
R5110:Adamts15 UTSW 9 30,832,740 (GRCm39) missense probably benign 0.01
R5120:Adamts15 UTSW 9 30,832,872 (GRCm39) missense probably damaging 1.00
R5697:Adamts15 UTSW 9 30,823,090 (GRCm39) missense probably damaging 1.00
R5901:Adamts15 UTSW 9 30,813,786 (GRCm39) missense probably damaging 1.00
R6011:Adamts15 UTSW 9 30,814,082 (GRCm39) missense probably damaging 0.98
R6020:Adamts15 UTSW 9 30,813,358 (GRCm39) missense probably benign 0.03
R6651:Adamts15 UTSW 9 30,833,448 (GRCm39) missense probably damaging 0.98
R6665:Adamts15 UTSW 9 30,815,775 (GRCm39) critical splice donor site probably null
R7021:Adamts15 UTSW 9 30,832,776 (GRCm39) missense probably damaging 1.00
R7231:Adamts15 UTSW 9 30,817,454 (GRCm39) missense probably damaging 1.00
R7290:Adamts15 UTSW 9 30,813,906 (GRCm39) missense probably benign 0.05
R7390:Adamts15 UTSW 9 30,822,404 (GRCm39) critical splice donor site probably null
R7798:Adamts15 UTSW 9 30,815,939 (GRCm39) missense probably damaging 1.00
R7833:Adamts15 UTSW 9 30,833,401 (GRCm39) missense probably benign
R7908:Adamts15 UTSW 9 30,813,522 (GRCm39) missense probably benign
R8175:Adamts15 UTSW 9 30,815,952 (GRCm39) missense probably damaging 1.00
R8177:Adamts15 UTSW 9 30,833,322 (GRCm39) missense probably damaging 1.00
R8347:Adamts15 UTSW 9 30,813,846 (GRCm39) missense probably benign 0.07
R8348:Adamts15 UTSW 9 30,813,846 (GRCm39) missense probably benign 0.07
R8374:Adamts15 UTSW 9 30,814,002 (GRCm39) missense probably benign 0.21
R8473:Adamts15 UTSW 9 30,816,085 (GRCm39) missense probably damaging 1.00
R8680:Adamts15 UTSW 9 30,823,055 (GRCm39) missense possibly damaging 0.57
R9113:Adamts15 UTSW 9 30,822,498 (GRCm39) missense probably damaging 1.00
R9336:Adamts15 UTSW 9 30,816,085 (GRCm39) missense probably damaging 1.00
R9381:Adamts15 UTSW 9 30,813,816 (GRCm39) missense probably damaging 0.99
X0063:Adamts15 UTSW 9 30,833,526 (GRCm39) missense possibly damaging 0.96
X0067:Adamts15 UTSW 9 30,832,878 (GRCm39) missense probably damaging 1.00
Z1176:Adamts15 UTSW 9 30,821,996 (GRCm39) missense probably damaging 1.00
Z1177:Adamts15 UTSW 9 30,813,787 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTACTCAGGGTGCTTATCGCTCAC -3'
(R):5'- GTATGTCATTAGCCCTCTGCCCAAC -3'

Sequencing Primer
(F):5'- GTGCTTATCGCTCACTTTGTTCAG -3'
(R):5'- TTATAAGCCACGGCGGAC -3'
Posted On 2013-10-16