Incidental Mutation 'R0348:Adamts13'
ID 35966
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 038555-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R0348 (G1)
Quality Score 132
Status Not validated
Chromosome 2
Chromosomal Location 26863428-26899640 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 26871092 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 235 (D235A)
Ref Sequence ENSEMBL: ENSMUSP00000014996 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014996] [ENSMUST00000102891]
AlphaFold Q769J6
Predicted Effect probably benign
Transcript: ENSMUST00000014996
AA Change: D235A

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000014996
Gene: ENSMUSG00000014852
AA Change: D235A

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: D235A

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000099955
Gene: ENSMUSG00000014852
AA Change: D235A

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: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.5%
Validation Efficiency
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921536K21Rik T C 11: 3,844,987 (GRCm39) D34G probably benign Het
Adam6a T C 12: 113,508,337 (GRCm39) S237P probably damaging Het
Adgb T A 10: 10,233,623 (GRCm39) M1259L probably benign Het
Apbb1 T C 7: 105,214,510 (GRCm39) Q529R probably damaging Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
Camta1 T C 4: 151,670,888 (GRCm39) T96A possibly damaging Het
Ccdc148 A T 2: 58,894,084 (GRCm39) probably null Het
Cep170b T C 12: 112,703,240 (GRCm39) Y568H probably damaging Het
Clca4b A T 3: 144,627,741 (GRCm39) I410N probably damaging Het
Cnot10 G A 9: 114,427,838 (GRCm39) T592I probably benign Het
Col6a3 C T 1: 90,755,771 (GRCm39) A173T probably damaging Het
Ctcf T A 8: 106,402,789 (GRCm39) C560* probably null Het
Daglb G A 5: 143,472,951 (GRCm39) V369I probably benign Het
Defb19 G A 2: 152,422,146 (GRCm39) L8F unknown Het
Emcn G T 3: 137,078,608 (GRCm39) E65* probably null Het
Etl4 G T 2: 20,782,940 (GRCm39) R753L probably damaging Het
Fam151b T C 13: 92,586,689 (GRCm39) Y248C probably benign Het
Fmo1 T C 1: 162,663,704 (GRCm39) D275G probably benign Het
Gjd4 A G 18: 9,280,964 (GRCm39) V38A possibly damaging Het
Hivep1 T C 13: 42,311,855 (GRCm39) V1365A possibly damaging Het
Hivep2 T C 10: 14,005,702 (GRCm39) S767P possibly damaging Het
Hoxa6 T C 6: 52,183,548 (GRCm39) T166A possibly damaging Het
Ift80 G T 3: 68,843,232 (GRCm39) L367I probably benign Het
Igf2bp1 T C 11: 95,859,719 (GRCm39) N369S possibly damaging Het
Igsf11 C A 16: 38,829,179 (GRCm39) D24E probably benign Het
Ints5 C T 19: 8,873,114 (GRCm39) L358F probably damaging Het
Kbtbd3 A G 9: 4,330,519 (GRCm39) T298A possibly damaging Het
Kif28 C A 1: 179,558,818 (GRCm39) V297F probably damaging Het
Krt12 T C 11: 99,308,771 (GRCm39) Y422C probably damaging Het
Lig1 T A 7: 13,043,122 (GRCm39) W856R probably damaging Het
Liph C T 16: 21,786,730 (GRCm39) probably null Het
Lrig3 T A 10: 125,849,317 (GRCm39) C1012* probably null Het
Lrit1 A G 14: 36,782,182 (GRCm39) E285G probably damaging Het
Lrrc31 A G 3: 30,743,377 (GRCm39) V196A probably benign Het
Lrrn4 T C 2: 132,712,363 (GRCm39) T487A probably benign Het
Mllt10 T C 2: 18,167,424 (GRCm39) Y372H probably damaging Het
Mrpl50 A T 4: 49,514,515 (GRCm39) V52E probably damaging Het
Mthfd1l T C 10: 4,006,766 (GRCm39) V676A probably damaging Het
Ncl C T 1: 86,284,362 (GRCm39) D245N possibly damaging Het
Neil1 A T 9: 57,054,065 (GRCm39) probably null Het
Nfatc3 A G 8: 106,818,827 (GRCm39) E515G probably damaging Het
Nlrp4b A G 7: 10,449,108 (GRCm39) E70G possibly damaging Het
Nme3 A T 17: 25,115,491 (GRCm39) I2F possibly damaging Het
Nup210 G A 6: 91,051,292 (GRCm39) H364Y probably benign Het
Nxpe3 T A 16: 55,686,898 (GRCm39) T37S probably benign Het
Olfm1 T A 2: 28,102,554 (GRCm39) M76K probably benign Het
Pgbd5 A T 8: 125,160,771 (GRCm39) V32E probably damaging Het
Plcb4 T C 2: 135,810,339 (GRCm39) M646T probably damaging Het
Plekha7 G A 7: 115,757,255 (GRCm39) P565L probably damaging Het
Poc5 A G 13: 96,535,374 (GRCm39) D213G probably null Het
Poli A G 18: 70,656,452 (GRCm39) I125T probably benign Het
Ppm1f T C 16: 16,721,254 (GRCm39) M1T probably null Het
Psmd7 T C 8: 108,307,523 (GRCm39) K320R unknown Het
Rabggtb A G 3: 153,615,954 (GRCm39) V128A probably damaging Het
Rasa2 A T 9: 96,454,012 (GRCm39) L308H probably damaging Het
Serpina1d C T 12: 103,730,034 (GRCm39) V383M probably benign Het
Sipa1l1 T C 12: 82,431,530 (GRCm39) probably null Het
Sos1 T C 17: 80,715,740 (GRCm39) T1006A probably benign Het
Sugp1 T A 8: 70,522,658 (GRCm39) Y453N probably damaging Het
Taf3 A T 2: 10,047,455 (GRCm39) D64E probably benign Het
Tcf19 A T 17: 35,826,801 (GRCm39) probably null Het
Trim60 T A 8: 65,453,868 (GRCm39) H127L probably damaging Het
Tubb4a C T 17: 57,387,770 (GRCm39) V419M probably damaging Het
Vmn2r22 G T 6: 123,614,684 (GRCm39) T302K probably damaging Het
Vmn2r68 T G 7: 84,870,884 (GRCm39) T800P possibly damaging Het
Zfhx2 A C 14: 55,300,965 (GRCm39) V2262G probably damaging 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
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'- TCCCTTCCTCACATAGGTGGGAAAC -3'
(R):5'- ATTAGCTGGGTAGAGGCCCAACAG -3'

Sequencing Primer
(F):5'- CTCACATAGGTGGGAAACTGATTC -3'
(R):5'- AAAGGTCTGTCATGGAAGTGTG -3'
Posted On 2013-05-09