Incidental Mutation 'R9743:Adamts13'
ID 731908
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R9743 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 26863428-26899640 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 26886812 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 983 (V983A)
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: V983A

PolyPhen 2 Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000014996
Gene: ENSMUSG00000014852
AA Change: V983A

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: V983A

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000099955
Gene: ENSMUSG00000014852
AA Change: V983A

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: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.8%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl1 A G 2: 31,687,716 (GRCm39) H571R probably benign Het
AI661453 T A 17: 47,780,240 (GRCm39) N1181K unknown Het
Ank2 A T 3: 126,733,794 (GRCm39) N605K possibly damaging Het
Armc2 T G 10: 41,798,598 (GRCm39) K737T probably benign Het
Aspn A G 13: 49,705,150 (GRCm39) Y4C probably benign Het
B3galt2 T C 1: 143,522,847 (GRCm39) F328L probably benign Het
Brd10 A C 19: 29,694,261 (GRCm39) I1744S probably benign Het
Ccl3 T C 11: 83,539,428 (GRCm39) E52G probably damaging Het
Col5a1 C T 2: 27,864,505 (GRCm39) A728V unknown Het
Cyp1b1 T A 17: 80,017,808 (GRCm39) D449V probably benign Het
D130043K22Rik C T 13: 25,056,299 (GRCm39) P544S probably damaging Het
Dgkd T A 1: 87,861,850 (GRCm39) W28R Het
Emilin2 T C 17: 71,580,867 (GRCm39) T620A probably benign Het
Ercc6 T G 14: 32,298,943 (GRCm39) S1444A probably benign Het
Fam149b A G 14: 20,413,411 (GRCm39) H264R probably benign Het
Fbxo7 T C 10: 85,883,773 (GRCm39) V458A probably benign Het
Gria4 T G 9: 4,464,457 (GRCm39) T502P probably damaging Het
Hfm1 T C 5: 107,022,125 (GRCm39) T974A possibly damaging Het
Ifna16 T C 4: 88,594,930 (GRCm39) D55G probably damaging Het
Lyst T C 13: 13,809,323 (GRCm39) V331A possibly damaging Het
Mkks T C 2: 136,722,992 (GRCm39) Y55C probably benign Het
Muc4 T C 16: 32,601,194 (GRCm39) F1291L Het
Myo18a A G 11: 77,723,304 (GRCm39) N1183S probably benign Het
Olfm2 T C 9: 20,579,785 (GRCm39) D322G probably damaging Het
Or2a25 G A 6: 42,888,835 (GRCm39) C126Y probably damaging Het
Or2a51 A G 6: 43,179,229 (GRCm39) Y217C probably benign Het
Or5aq7 A G 2: 86,937,840 (GRCm39) V297A probably damaging Het
Or7h8 A G 9: 20,123,840 (GRCm39) N65S probably damaging Het
Pdik1l A T 4: 134,011,815 (GRCm39) D9E probably benign Het
Pdzrn3 C A 6: 101,354,678 (GRCm39) G58C probably damaging Het
Pex13 A T 11: 23,606,119 (GRCm39) L37* probably null Het
Pigr G A 1: 130,769,540 (GRCm39) R117Q possibly damaging Het
Ptprq T A 10: 107,520,982 (GRCm39) Y730F probably damaging Het
Rnase11 T A 14: 51,287,370 (GRCm39) K61N probably benign Het
Setdb2 T C 14: 59,651,002 (GRCm39) D427G probably benign Het
Slc22a21 A G 11: 53,842,575 (GRCm39) V518A probably benign Het
Slf2 T C 19: 44,930,572 (GRCm39) S550P probably benign Het
Supt16 T C 14: 52,408,939 (GRCm39) R812G probably damaging Het
Taf4 C T 2: 179,581,592 (GRCm39) V464M possibly damaging Het
Tas1r3 G A 4: 155,945,256 (GRCm39) T655I probably damaging Het
Tg G A 15: 66,561,839 (GRCm39) V1108I probably benign Het
Tmc7 C A 7: 118,150,452 (GRCm39) R360S probably damaging Het
Tor3a T C 1: 156,501,103 (GRCm39) T112A probably benign Het
Tsr3 T C 17: 25,460,674 (GRCm39) L180P possibly damaging Het
Unc5d T C 8: 29,209,801 (GRCm39) T512A possibly damaging Het
Vmn2r103 T A 17: 20,032,475 (GRCm39) Y750N probably damaging Het
Vmn2r20 A T 6: 123,373,369 (GRCm39) V491D probably damaging Het
Vmn2r52 T C 7: 9,904,606 (GRCm39) E411G possibly damaging Het
Zfp760 T A 17: 21,942,338 (GRCm39) S504R 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
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
X0027:Adamts13 UTSW 2 26,875,558 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ATGCGGCTTGGCTAGTAAG -3'
(R):5'- TTACATCATCTGGGGCTGATG -3'

Sequencing Primer
(F):5'- TAGTAAGCCCCCAAGCCGG -3'
(R):5'- GGCAGAGCCTAATACAGATCCATG -3'
Posted On 2022-11-14