Incidental Mutation 'R0118:Adamts15'
ID 20932
Institutional Source Beutler Lab
Gene Symbol Adamts15
Ensembl Gene ENSMUSG00000033453
Gene Name ADAM metallopeptidase with thrombospondin type 1 motif 15
Synonyms
MMRRC Submission 038404-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0118 (G1)
Quality Score 114
Status Validated (trace)
Chromosome 9
Chromosomal Location 30810451-30833748 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30823040 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 343 (R343G)
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: R343G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000067022
Gene: ENSMUSG00000033453
AA Change: R343G

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 damaging
Transcript: ENSMUST00000216215
AA Change: R12G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217070
Meta Mutation Damage Score 0.8477 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.2%
  • 10x: 89.3%
  • 20x: 67.4%
Validation Efficiency 98% (50/51)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asxl2 T G 12: 3,546,923 (GRCm39) V569G probably damaging Het
Azin2 A C 4: 128,843,430 (GRCm39) H85Q probably damaging Het
Cacna1a C T 8: 85,262,712 (GRCm39) R324C probably damaging Het
Ccr3 C A 9: 123,829,647 (GRCm39) Y327* probably null Het
Cers2 T C 3: 95,227,537 (GRCm39) F55S probably benign Het
Cic C T 7: 24,985,459 (GRCm39) S301L probably damaging Het
Cntnap2 T C 6: 45,037,326 (GRCm39) probably null Het
Cpn2 T C 16: 30,079,186 (GRCm39) R172G probably benign Het
Ctdnep1 T C 11: 69,879,557 (GRCm39) probably null Het
Dennd3 T A 15: 73,436,925 (GRCm39) Y1051N probably damaging Het
Dmap1 T G 4: 117,533,680 (GRCm39) Y196S probably damaging Het
Entpd7 G A 19: 43,692,751 (GRCm39) W102* probably null Het
Frem2 A T 3: 53,442,664 (GRCm39) C2624* probably null Het
Gdpd3 A G 7: 126,370,165 (GRCm39) Y238C probably damaging Het
Gjb3 A G 4: 127,220,451 (GRCm39) V27A probably damaging Het
Kat6b T C 14: 21,720,042 (GRCm39) F1465L probably damaging Het
Klra17 A T 6: 129,808,552 (GRCm39) M227K probably benign Het
Map6 A G 7: 98,966,824 (GRCm39) D348G possibly damaging Het
Mapkbp1 T C 2: 119,855,696 (GRCm39) S1472P probably benign Het
Megf6 C A 4: 154,339,098 (GRCm39) P545Q probably damaging Het
Mertk C T 2: 128,601,086 (GRCm39) R357W probably damaging Het
Mesd T A 7: 83,544,835 (GRCm39) I104N probably damaging Het
Mrm3 T A 11: 76,140,781 (GRCm39) V263E possibly damaging Het
Ndst4 T A 3: 125,405,210 (GRCm39) Y488* probably null Het
Nfat5 C T 8: 108,065,707 (GRCm39) R156W probably damaging Het
Nfs1 T C 2: 155,976,444 (GRCm39) H150R probably damaging Het
Odad3 A T 9: 21,906,353 (GRCm39) N224K probably benign Het
Or1n1b A G 2: 36,780,035 (GRCm39) M275T probably benign Het
Or8b56 T C 9: 38,739,154 (GRCm39) S50P possibly damaging Het
Or8g19 T A 9: 39,055,399 (GRCm39) M1K probably null Het
Or9q1 A G 19: 13,804,929 (GRCm39) F277S possibly damaging Het
Pcdh8 T C 14: 80,004,848 (GRCm39) Y1059C probably damaging Het
Pik3r5 T A 11: 68,381,306 (GRCm39) L164Q probably damaging Het
Polr3g T C 13: 81,824,240 (GRCm39) probably benign Het
Ppm1e T A 11: 87,122,564 (GRCm39) K464N probably benign Het
Rims1 T C 1: 22,416,631 (GRCm39) T1037A probably damaging Het
Rpgrip1l A T 8: 91,996,750 (GRCm39) I108N probably damaging Het
Sfi1 CCTCTC CCTCTCTC 11: 3,127,419 (GRCm39) probably benign Het
Spem1 T C 11: 69,712,371 (GRCm39) K98E possibly damaging Het
St7l T C 3: 104,796,619 (GRCm39) V237A probably damaging Het
Tbc1d16 T C 11: 119,048,642 (GRCm39) H337R probably damaging Het
Tbc1d32 T A 10: 55,893,701 (GRCm39) I1291F probably benign Het
Tnfaip6 G T 2: 51,933,827 (GRCm39) E61* probably null Het
Trib2 A T 12: 15,843,929 (GRCm39) W102R probably damaging Het
Uimc1 G T 13: 55,233,457 (GRCm39) N66K probably damaging Het
Vmn1r63 T A 7: 5,805,838 (GRCm39) T265S probably benign Het
Vps35 G A 8: 86,021,582 (GRCm39) T3I probably benign Het
Yeats2 T A 16: 19,975,692 (GRCm39) L63* probably null Het
Zfp282 A G 6: 47,869,866 (GRCm39) R304G 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
R0635:Adamts15 UTSW 9 30,816,066 (GRCm39) missense probably damaging 1.00
R0827:Adamts15 UTSW 9 30,832,776 (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'- CACGAGTTACCCAAGTGTCATCCTG -3'
(R):5'- TGTAAATGCCCCTTGGATGCCC -3'

Sequencing Primer
(F):5'- GCTGGCCCTAACAAATGATTCTG -3'
(R):5'- GGATGCCCTTCCTCTTCTTCAG -3'
Posted On 2013-04-11