Incidental Mutation 'R2009:Adamts15'
ID 219369
Institutional Source Beutler Lab
Gene Symbol Adamts15
Ensembl Gene ENSMUSG00000033453
Gene Name ADAM metallopeptidase with thrombospondin type 1 motif 15
Synonyms
MMRRC Submission 040018-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2009 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 30810451-30833748 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 30833433 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 34 (D34V)
Ref Sequence ENSEMBL: ENSMUSP00000067022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065112] [ENSMUST00000216215]
AlphaFold P59384
Predicted Effect probably benign
Transcript: ENSMUST00000065112
AA Change: D34V

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000067022
Gene: ENSMUSG00000033453
AA Change: D34V

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 0.0722 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 100% (47/47)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf1 A T 17: 43,632,112 (GRCm39) R884* probably null Het
Adgrg7 T C 16: 56,582,236 (GRCm39) T301A probably benign Het
Arhgef17 A G 7: 100,530,988 (GRCm39) I1366T probably damaging Het
C1s2 A T 6: 124,612,048 (GRCm39) L112H probably damaging Het
C2cd6 A T 1: 59,042,391 (GRCm39) noncoding transcript Het
Cfap74 G A 4: 155,504,724 (GRCm39) R103H possibly damaging Het
Col7a1 A T 9: 108,797,943 (GRCm39) probably null Het
Dmp1 A G 5: 104,360,706 (GRCm39) S461G probably damaging Het
Eif4g2 A T 7: 110,673,405 (GRCm39) D753E probably benign Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Etv4 T C 11: 101,665,063 (GRCm39) D130G probably damaging Het
Gabbr2 A T 4: 46,734,119 (GRCm39) I533N probably damaging Het
Gne T C 4: 44,055,273 (GRCm39) E234G probably benign Het
Itga6 C A 2: 71,647,025 (GRCm39) N78K probably benign Het
Lap3 C T 5: 45,650,899 (GRCm39) T33M probably benign Het
Limd1 A G 9: 123,308,564 (GRCm39) S88G probably benign Het
Lrp1 G T 10: 127,380,385 (GRCm39) T3922K probably damaging Het
Map4k3 A G 17: 80,971,517 (GRCm39) probably benign Het
Mib1 T C 18: 10,812,118 (GRCm39) L263S probably damaging Het
Ncor1 T C 11: 62,216,427 (GRCm39) S1474G probably benign Het
Nkapl A C 13: 21,651,607 (GRCm39) S335R probably damaging Het
Nrg3 A G 14: 38,092,771 (GRCm39) S605P probably damaging Het
Or10x4 G T 1: 174,218,995 (GRCm39) R120L possibly damaging Het
Or52b3 A G 7: 102,204,151 (GRCm39) Y220C probably damaging Het
Patj G A 4: 98,344,406 (GRCm39) D577N probably damaging Het
Pfpl A C 19: 12,407,319 (GRCm39) K523N possibly damaging Het
Pik3c2a A C 7: 115,963,738 (GRCm39) L924R probably damaging Het
Pkd2l1 C A 19: 44,144,403 (GRCm39) R278L probably benign Het
Prss2 A T 6: 41,500,910 (GRCm39) I108F probably damaging Het
Rnase2b A G 14: 51,400,347 (GRCm39) T143A possibly damaging Het
Sgk1 C T 10: 21,872,500 (GRCm39) R171W probably damaging Het
Sphk2 A T 7: 45,360,437 (GRCm39) H522Q probably damaging Het
Szt2 A G 4: 118,235,261 (GRCm39) probably null Het
Tmem88 C A 11: 69,288,602 (GRCm39) A106S probably damaging Het
Trappc14 C A 5: 138,259,191 (GRCm39) C434F probably damaging Het
Trim39 A G 17: 36,574,646 (GRCm39) L252S possibly damaging Het
Trim60 T A 8: 65,453,975 (GRCm39) E91D probably damaging Het
Trpm5 A G 7: 142,641,475 (GRCm39) I145T possibly damaging Het
Vmn2r107 A T 17: 20,595,729 (GRCm39) M761L probably benign Het
Wdr4 G A 17: 31,719,584 (GRCm39) probably benign Het
Wfs1 A T 5: 37,125,653 (GRCm39) S413T probably damaging Het
Wnt2 A T 6: 18,030,208 (GRCm39) W27R probably damaging Het
Zc3h3 A T 15: 75,651,158 (GRCm39) H687Q probably damaging Het
Zfp750 G A 11: 121,403,951 (GRCm39) P308L possibly damaging 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
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
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'- CACAGCAGCAAAGGAGTCTG -3'
(R):5'- TACAAGGGGACAGTGCTTGC -3'

Sequencing Primer
(F):5'- GCGTTCACATACCCGGAATAG -3'
(R):5'- ACAGTGCTTGCCGTGGGAG -3'
Posted On 2014-08-25