Incidental Mutation 'R0714:Adamts13'
ID 85889
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
MMRRC Submission 038897-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R0714 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 26863428-26899640 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 26876997 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014996] [ENSMUST00000102891]
AlphaFold Q769J6
Predicted Effect probably benign
Transcript: ENSMUST00000014996
SMART Domains Protein: ENSMUSP00000014996
Gene: ENSMUSG00000014852

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
SMART Domains Protein: ENSMUSP00000099955
Gene: ENSMUSG00000014852

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
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.5%
Validation Efficiency 100% (52/52)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd17b G A 19: 21,655,973 (GRCm39) R85H probably damaging Het
Alb T C 5: 90,610,665 (GRCm39) S82P possibly damaging Het
Arhgap10 G A 8: 78,078,316 (GRCm39) probably benign Het
Aspscr1 T A 11: 120,594,493 (GRCm39) probably null Het
Capn3 A T 2: 120,322,361 (GRCm39) Q359L probably benign Het
Ccdc110 A T 8: 46,396,047 (GRCm39) D646V possibly damaging Het
Ccr2 G A 9: 123,905,966 (GRCm39) G82D probably benign Het
Col6a4 A G 9: 105,895,102 (GRCm39) probably benign Het
Dhx29 T C 13: 113,064,499 (GRCm39) V58A possibly damaging Het
Dhx35 C A 2: 158,686,103 (GRCm39) Q593K probably benign Het
Dmd T C X: 83,353,503 (GRCm39) L2240P probably benign Het
Emc7 A G 2: 112,293,277 (GRCm39) N162S possibly damaging Het
Exoc7 A T 11: 116,184,120 (GRCm39) N483K probably benign Het
Fbxo34 T C 14: 47,767,486 (GRCm39) V282A probably damaging Het
Fndc3c1 A T X: 105,468,972 (GRCm39) Y1087* probably null Het
Kat2a A G 11: 100,602,178 (GRCm39) V192A probably damaging Het
Larp7 T C 3: 127,340,833 (GRCm39) D64G probably damaging Het
Lnx1 A G 5: 74,768,570 (GRCm39) probably benign Het
Mib2 C T 4: 155,743,917 (GRCm39) G42S probably damaging Het
Nckipsd C A 9: 108,691,333 (GRCm39) probably benign Het
Ndufab1 A G 7: 121,695,960 (GRCm39) probably benign Het
Nedd4 G A 9: 72,638,728 (GRCm39) probably benign Het
Nrsn2 G A 2: 152,216,042 (GRCm39) R54* probably null Het
Nt5dc3 T A 10: 86,648,238 (GRCm39) V171E probably damaging Het
Nudt8 A G 19: 4,052,023 (GRCm39) *211W probably null Het
Nxph4 A G 10: 127,362,808 (GRCm39) S28P probably damaging Het
Or4f14b A G 2: 111,774,898 (GRCm39) V301A probably benign Het
Or8k17 A C 2: 86,066,498 (GRCm39) L227R probably damaging Het
Or9g4b A G 2: 85,616,743 (GRCm39) D296G probably damaging Het
Pcdhb15 A G 18: 37,607,674 (GRCm39) Y302C probably damaging Het
Pkdrej A G 15: 85,699,712 (GRCm39) S2075P possibly damaging Het
Sdhc A T 1: 170,957,488 (GRCm39) probably benign Het
Sidt2 A G 9: 45,858,358 (GRCm39) probably benign Het
Sik2 T C 9: 50,818,736 (GRCm39) M413V probably benign Het
Slc5a4b A G 10: 75,917,341 (GRCm39) F232L probably benign Het
Slx1b A T 7: 126,291,620 (GRCm39) I148N probably damaging Het
Spag17 C G 3: 99,987,472 (GRCm39) S1587R probably damaging Het
St13 T C 15: 81,267,228 (GRCm39) D74G probably benign Het
St7l G A 3: 104,782,244 (GRCm39) R207H probably benign Het
Syne2 AGAGTGAG AGAGTGAGTGAG 12: 76,144,734 (GRCm39) probably null Het
Tacc3 T C 5: 33,828,741 (GRCm39) probably benign Het
Tbx22 G A X: 106,728,731 (GRCm39) V421I probably benign Het
Tmc3 G A 7: 83,265,969 (GRCm39) A705T possibly damaging Het
Tmem130 C T 5: 144,674,619 (GRCm39) V369M probably damaging Het
Tonsl T C 15: 76,517,921 (GRCm39) probably benign Het
Trpm6 T A 19: 18,815,451 (GRCm39) I1179N possibly damaging Het
Ttc13 A T 8: 125,401,105 (GRCm39) S624T probably damaging Het
Utp23 T G 15: 51,745,665 (GRCm39) V55G possibly damaging Het
Vps11 A G 9: 44,270,953 (GRCm39) V143A possibly damaging Het
Vps50 G T 6: 3,571,105 (GRCm39) V618F 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
IGL02837:Adamts13 UTSW 2 26,881,432 (GRCm39) missense probably benign 0.01
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
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'- GGGACCCTAAGCCTCTGTTTGTTG -3'
(R):5'- GGTGCTACAAGCCTGGTTACAGAAG -3'

Sequencing Primer
(F):5'- TGGATGACCCAAGTGATTCTC -3'
(R):5'- CCTGGTTACAGAAGCAGCG -3'
Posted On 2013-11-18