Incidental Mutation 'IGL02837:Adamts13'
ID 391893
Institutional Source Beutler Lab
Gene Symbol Adamts13
Ensembl Gene ENSMUSG00000014852
Gene Name ADAM metallopeptidase with thrombospondin type 1 motif 13
Synonyms vWF-CP mRNA for von Willebrand factor-cleaving, LOC279028
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # IGL02837 (G1)
Quality Score 111
Status Validated
Chromosome 2
Chromosomal Location 26863428-26899640 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26881432 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 803 (N803S)
Ref Sequence ENSEMBL: ENSMUSP00000099955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014996] [ENSMUST00000102891]
AlphaFold Q769J6
Predicted Effect probably benign
Transcript: ENSMUST00000014996
AA Change: N803S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000014996
Gene: ENSMUSG00000014852
AA Change: N803S

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:Reprolysin_4 84 287 2.3e-11 PFAM
Pfam:Reprolysin 84 291 1e-15 PFAM
Pfam:Reprolysin_3 113 237 2e-10 PFAM
Pfam:Reprolysin_2 132 281 5e-9 PFAM
TSP1 392 444 3.29e-14 SMART
TSP1 693 748 7.01e0 SMART
TSP1 750 810 3.34e-6 SMART
TSP1 904 959 5.85e0 SMART
TSP1 961 1019 2.69e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102891
AA Change: N803S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000099955
Gene: ENSMUSG00000014852
AA Change: N803S

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:Reprolysin_4 84 287 8.5e-11 PFAM
Pfam:Reprolysin 96 291 4.9e-14 PFAM
Pfam:Reprolysin_3 106 237 5.6e-11 PFAM
TSP1 392 444 3.29e-14 SMART
TSP1 693 748 7.01e0 SMART
TSP1 750 810 3.34e-6 SMART
TSP1 904 959 5.85e0 SMART
TSP1 961 1019 2.69e0 SMART
Blast:TSP1 1022 1079 4e-26 BLAST
TSP1 1081 1137 4.58e-4 SMART
Blast:CUB 1196 1293 2e-39 BLAST
Blast:CUB 1303 1412 3e-63 BLAST
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 98% (56/57)
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. In certain mouse strains (C57BL/6, for example) an intracisternal A-type particle (IAP) retrotransposon sequence is located in the intron 23 that causes an alternate splicing event resulting in a shorter transcript variants encoding shorter isoforms. The encoded preproprotein undergoes proteolytic processing to generate an active enzyme that cleaves von Willebrand factor (VWF) in circulating blood. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous mutation of this gene results in thrombocytopenia, decreased survival, and increased susceptibility to developing thrombotic thrombocytopenic purpura after shiga toxin injection. On a different background, mutants are viable and fertile. [provided by MGI curators]
Allele List at MGI

All alleles(10) : Targeted(7) Gene trapped(2) Spontaneous(1)

Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 C T 17: 36,268,473 (GRCm39) V786I probably benign Het
Ago4 C G 4: 126,391,093 (GRCm39) G730R possibly damaging Het
Amn T A 12: 111,238,333 (GRCm39) M55K possibly damaging Het
Apob A T 12: 8,055,102 (GRCm39) Y1334F probably damaging Het
Arl14ep A C 2: 106,799,574 (GRCm39) L89R probably damaging Het
Bcam T G 7: 19,498,111 (GRCm39) E304A probably damaging Het
Car10 A T 11: 93,488,077 (GRCm39) Y258F probably damaging Het
Cerk T A 15: 86,028,896 (GRCm39) K82* probably null Het
Chac2 T C 11: 30,927,496 (GRCm39) N141S probably damaging Het
Clpx T G 9: 65,231,541 (GRCm39) L556R probably damaging Het
Csgalnact2 T C 6: 118,101,364 (GRCm39) I55V probably benign Het
Cul1 T C 6: 47,500,139 (GRCm39) V650A probably benign Het
Dnah5 A T 15: 28,269,546 (GRCm39) E895D probably benign Het
Dnah9 T C 11: 65,765,022 (GRCm39) K3841E probably damaging Het
Dpys A G 15: 39,720,701 (GRCm39) S20P probably damaging Het
Fat1 G A 8: 45,470,471 (GRCm39) V1490I probably benign Het
Flg2 T G 3: 93,109,044 (GRCm39) C357W probably damaging Het
Flt1 T A 5: 147,591,980 (GRCm39) D494V probably benign Het
Fpr-rs4 T A 17: 18,242,513 (GRCm39) D173E probably benign Het
Gm2666 G T 1: 85,412,824 (GRCm39) noncoding transcript Het
Gm3867 C A 9: 36,169,096 (GRCm39) noncoding transcript Het
Gm5436 A T 12: 84,305,374 (GRCm39) noncoding transcript Het
Kit G A 5: 75,799,668 (GRCm39) V467I probably benign Het
Krtap4-16 A G 11: 99,741,863 (GRCm39) V179A unknown Het
Lrp8 C A 4: 107,718,478 (GRCm39) H693Q probably benign Het
Lrrc49 A G 9: 60,517,605 (GRCm39) S75P probably benign Het
Ltbp4 C A 7: 27,013,806 (GRCm39) V1068L probably damaging Het
Magel2 C T 7: 62,028,008 (GRCm39) P304L possibly damaging Het
Muc19 T A 15: 91,766,850 (GRCm39) noncoding transcript Het
Npas3 T C 12: 53,993,980 (GRCm39) V175A possibly damaging Het
Nr1h4 A T 10: 89,352,342 (GRCm39) H8Q probably benign Het
Ntsr2 G A 12: 16,703,876 (GRCm39) V126M probably damaging Het
Odf2 A T 2: 29,816,725 (GRCm39) T725S probably damaging Het
Or52e19b C T 7: 103,032,822 (GRCm39) C129Y probably damaging Het
Or5h17 C T 16: 58,820,909 (GRCm39) P287L probably damaging Het
Or9s13 T C 1: 92,548,404 (GRCm39) Y259H possibly damaging Het
Pgr T C 9: 8,946,639 (GRCm39) probably benign Het
Pik3c2g T A 6: 139,603,562 (GRCm39) C249* probably null Het
Plcd3 C T 11: 102,961,929 (GRCm39) V726M possibly damaging Het
Prl8a1 A G 13: 27,759,617 (GRCm39) L140P probably damaging Het
Prpf6 C A 2: 181,264,056 (GRCm39) D239E probably damaging Het
Rcc1 C T 4: 132,065,067 (GRCm39) R139H probably benign Het
Rimbp2 G T 5: 128,874,809 (GRCm39) Q268K probably damaging Het
Rps19-ps13 A T 18: 40,859,447 (GRCm39) noncoding transcript Het
Sema4c C A 1: 36,591,965 (GRCm39) G266V probably damaging Het
Sema4g T C 19: 44,985,150 (GRCm39) F156S probably damaging Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Speer4f1 G T 5: 17,685,381 (GRCm39) L225F unknown Het
Thrap3 T C 4: 126,059,157 (GRCm39) probably benign Het
Tnfrsf8 T C 4: 144,995,568 (GRCm39) E497G probably benign Het
Trim3 T C 7: 105,261,863 (GRCm39) N631S probably damaging Het
Trim45 C T 3: 100,838,943 (GRCm39) probably benign Het
Wdr43 A G 17: 71,949,731 (GRCm39) D445G probably benign Het
Other mutations in Adamts13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Adamts13 APN 2 26,895,373 (GRCm39) missense probably benign 0.04
IGL00465:Adamts13 APN 2 26,863,567 (GRCm39) missense probably benign 0.32
IGL01114:Adamts13 APN 2 26,895,202 (GRCm39) missense probably benign 0.41
IGL01138:Adamts13 APN 2 26,873,054 (GRCm39) missense probably damaging 1.00
IGL01154:Adamts13 APN 2 26,896,206 (GRCm39) missense probably benign
IGL01860:Adamts13 APN 2 26,868,023 (GRCm39) missense probably damaging 0.99
IGL01924:Adamts13 APN 2 26,886,595 (GRCm39) missense possibly damaging 0.80
IGL01991:Adamts13 APN 2 26,880,610 (GRCm39) missense probably damaging 0.97
IGL02215:Adamts13 APN 2 26,875,495 (GRCm39) missense probably damaging 1.00
IGL02415:Adamts13 APN 2 26,879,295 (GRCm39) missense possibly damaging 0.95
IGL02519:Adamts13 APN 2 26,868,687 (GRCm39) missense probably damaging 1.00
IGL02956:Adamts13 APN 2 26,873,049 (GRCm39) missense probably benign 0.18
IGL03209:Adamts13 APN 2 26,882,973 (GRCm39) missense probably benign 0.00
I1329:Adamts13 UTSW 2 26,863,631 (GRCm39) missense possibly damaging 0.52
IGL03048:Adamts13 UTSW 2 26,868,711 (GRCm39) critical splice donor site probably null
R0041:Adamts13 UTSW 2 26,873,986 (GRCm39) missense probably damaging 1.00
R0217:Adamts13 UTSW 2 26,886,933 (GRCm39) splice site probably benign
R0276:Adamts13 UTSW 2 26,865,772 (GRCm39) missense possibly damaging 0.91
R0309:Adamts13 UTSW 2 26,877,001 (GRCm39) missense probably damaging 0.99
R0348:Adamts13 UTSW 2 26,871,092 (GRCm39) missense probably benign 0.13
R0369:Adamts13 UTSW 2 26,895,198 (GRCm39) missense probably benign 0.00
R0386:Adamts13 UTSW 2 26,876,691 (GRCm39) splice site probably null
R0553:Adamts13 UTSW 2 26,881,346 (GRCm39) nonsense probably null
R0714:Adamts13 UTSW 2 26,876,997 (GRCm39) splice site probably benign
R0862:Adamts13 UTSW 2 26,896,336 (GRCm39) critical splice donor site probably null
R1320:Adamts13 UTSW 2 26,879,258 (GRCm39) missense probably damaging 0.97
R1458:Adamts13 UTSW 2 26,878,366 (GRCm39) missense probably damaging 1.00
R1473:Adamts13 UTSW 2 26,871,765 (GRCm39) nonsense probably null
R1491:Adamts13 UTSW 2 26,868,327 (GRCm39) missense probably damaging 1.00
R1588:Adamts13 UTSW 2 26,865,687 (GRCm39) missense probably benign 0.01
R1638:Adamts13 UTSW 2 26,886,595 (GRCm39) missense possibly damaging 0.80
R1724:Adamts13 UTSW 2 26,881,306 (GRCm39) missense probably benign 0.00
R1924:Adamts13 UTSW 2 26,874,153 (GRCm39) missense probably damaging 1.00
R2001:Adamts13 UTSW 2 26,864,002 (GRCm39) missense probably benign
R2072:Adamts13 UTSW 2 26,895,437 (GRCm39) missense probably benign 0.10
R2073:Adamts13 UTSW 2 26,896,326 (GRCm39) missense probably damaging 1.00
R2409:Adamts13 UTSW 2 26,868,374 (GRCm39) missense probably benign 0.00
R4362:Adamts13 UTSW 2 26,894,794 (GRCm39) missense probably damaging 1.00
R4363:Adamts13 UTSW 2 26,894,794 (GRCm39) missense probably damaging 1.00
R4422:Adamts13 UTSW 2 26,895,412 (GRCm39) missense probably benign 0.00
R4769:Adamts13 UTSW 2 26,898,723 (GRCm39) nonsense probably null
R4785:Adamts13 UTSW 2 26,873,054 (GRCm39) missense probably damaging 1.00
R4831:Adamts13 UTSW 2 26,873,142 (GRCm39) critical splice donor site probably null
R4832:Adamts13 UTSW 2 26,879,414 (GRCm39) missense probably benign 0.22
R4945:Adamts13 UTSW 2 26,876,622 (GRCm39) missense probably damaging 1.00
R5047:Adamts13 UTSW 2 26,886,922 (GRCm39) missense probably damaging 0.98
R5126:Adamts13 UTSW 2 26,886,927 (GRCm39) critical splice donor site probably null
R5161:Adamts13 UTSW 2 26,883,020 (GRCm39) missense probably benign 0.00
R5394:Adamts13 UTSW 2 26,876,570 (GRCm39) missense probably benign 0.00
R5557:Adamts13 UTSW 2 26,863,651 (GRCm39) missense probably benign 0.05
R5660:Adamts13 UTSW 2 26,886,761 (GRCm39) missense probably benign
R5890:Adamts13 UTSW 2 26,876,603 (GRCm39) missense probably damaging 0.96
R6168:Adamts13 UTSW 2 26,894,898 (GRCm39) missense probably benign 0.37
R6536:Adamts13 UTSW 2 26,865,762 (GRCm39) missense probably damaging 0.99
R6929:Adamts13 UTSW 2 26,896,275 (GRCm39) nonsense probably null
R7207:Adamts13 UTSW 2 26,868,707 (GRCm39) missense probably damaging 1.00
R7211:Adamts13 UTSW 2 26,879,310 (GRCm39) missense probably benign 0.40
R7212:Adamts13 UTSW 2 26,896,326 (GRCm39) missense probably damaging 1.00
R7392:Adamts13 UTSW 2 26,879,336 (GRCm39) missense probably damaging 1.00
R7583:Adamts13 UTSW 2 26,863,965 (GRCm39) missense probably benign
R7604:Adamts13 UTSW 2 26,895,218 (GRCm39) missense probably benign 0.00
R7783:Adamts13 UTSW 2 26,880,597 (GRCm39) missense not run
R7814:Adamts13 UTSW 2 26,886,561 (GRCm39) missense probably benign
R8076:Adamts13 UTSW 2 26,880,624 (GRCm39) missense probably benign 0.06
R8245:Adamts13 UTSW 2 26,880,568 (GRCm39) missense probably damaging 1.00
R8526:Adamts13 UTSW 2 26,868,012 (GRCm39) missense probably benign
R9112:Adamts13 UTSW 2 26,880,379 (GRCm39) missense possibly damaging 0.60
R9147:Adamts13 UTSW 2 26,883,024 (GRCm39) missense probably benign
R9148:Adamts13 UTSW 2 26,883,024 (GRCm39) missense probably benign
R9704:Adamts13 UTSW 2 26,895,237 (GRCm39) missense
R9743:Adamts13 UTSW 2 26,895,491 (GRCm39) critical splice donor site probably null
R9743:Adamts13 UTSW 2 26,886,812 (GRCm39) missense probably benign 0.16
X0027:Adamts13 UTSW 2 26,875,558 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ATGAGCCAACTGAAACCCTGG -3'
(R):5'- AACCCAGCACCTCTTGAATAGTG -3'

Sequencing Primer
(F):5'- TGAAACCCTGGCCCCAG -3'
(R):5'- GCACCTCTTGAATAGTGAGAAGGTTC -3'
Posted On 2016-06-08