Incidental Mutation 'R1924:Adamts13'
ID 213255
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 039942-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R1924 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 26863428-26899640 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 26874153 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 434 (Q434L)
Ref Sequence ENSEMBL: ENSMUSP00000099955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014996] [ENSMUST00000102891]
AlphaFold Q769J6
Predicted Effect probably damaging
Transcript: ENSMUST00000014996
AA Change: Q434L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000014996
Gene: ENSMUSG00000014852
AA Change: Q434L

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 damaging
Transcript: ENSMUST00000102891
AA Change: Q434L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099955
Gene: ENSMUSG00000014852
AA Change: Q434L

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 0.4588 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.9%
Validation Efficiency 94% (63/67)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb G A 5: 114,368,781 (GRCm39) M1666I possibly damaging Het
Adgrg3 G A 8: 95,762,562 (GRCm39) R204H probably benign Het
Arhgef28 A C 13: 98,073,324 (GRCm39) probably benign Het
AU041133 T A 10: 81,987,101 (GRCm39) C251* probably null Het
Axin2 T A 11: 108,833,794 (GRCm39) N580K probably benign Het
C4b A G 17: 34,948,631 (GRCm39) C1560R probably damaging Het
Cacna1g A G 11: 94,334,880 (GRCm39) I809T possibly damaging Het
Cacna1s C A 1: 136,016,755 (GRCm39) probably null Het
Cadps2 T C 6: 23,688,857 (GRCm39) S151G probably damaging Het
Capn1 T C 19: 6,040,086 (GRCm39) probably null Het
Capn9 A G 8: 125,302,965 (GRCm39) S28G probably benign Het
Ccdc73 A G 2: 104,822,637 (GRCm39) D862G probably damaging Het
Cdk17 T C 10: 93,061,979 (GRCm39) L237P probably damaging Het
Cfap251 A G 5: 123,440,802 (GRCm39) I1120V possibly damaging Het
Chad A C 11: 94,456,384 (GRCm39) N154T possibly damaging Het
Cog1 C T 11: 113,547,038 (GRCm39) T544I probably benign Het
Cracd A T 5: 77,006,470 (GRCm39) T944S unknown Het
Ctnna2 T C 6: 76,931,830 (GRCm39) E590G possibly damaging Het
Dapk2 T A 9: 66,072,642 (GRCm39) M6K probably benign Het
Dchs1 T C 7: 105,421,487 (GRCm39) E311G possibly damaging Het
Ddr2 T A 1: 169,809,641 (GRCm39) T779S probably benign Het
Dhtkd1 A G 2: 5,916,744 (GRCm39) V644A probably damaging Het
Dock2 A G 11: 34,414,934 (GRCm39) V147A possibly damaging Het
Ear10 A T 14: 44,160,357 (GRCm39) *157K probably null Het
Gm10801 T C 2: 98,494,197 (GRCm39) I113T probably damaging Het
Gmps T G 3: 63,906,049 (GRCm39) C449G probably damaging Het
Grin3a A G 4: 49,844,988 (GRCm39) S32P possibly damaging Het
Igkv1-115 A T 6: 68,138,592 (GRCm39) D65V probably damaging Het
Klk1b4 A G 7: 43,859,105 (GRCm39) N41S probably benign Het
Krt26 CTAGTA CTA 11: 99,224,352 (GRCm39) probably benign Het
Lrrc8a T A 2: 30,145,262 (GRCm39) D25E probably damaging Het
Muc5b A G 7: 141,421,960 (GRCm39) R4426G possibly damaging Het
Muc6 G A 7: 141,218,313 (GRCm39) S2120F possibly damaging Het
Myo5a G T 9: 75,023,489 (GRCm39) D17Y probably damaging Het
Nat1 C G 8: 67,944,076 (GRCm39) L154V probably benign Het
Nek3 T A 8: 22,647,047 (GRCm39) T163S probably damaging Het
Or2w25 G T 11: 59,503,949 (GRCm39) R53L possibly damaging Het
Or5p80 A G 7: 108,229,562 (GRCm39) D121G probably damaging Het
Or6c204 A G 10: 129,023,044 (GRCm39) I82T possibly damaging Het
Or8d2b T A 9: 38,789,147 (GRCm39) I225N probably damaging Het
Or8g32 A T 9: 39,305,163 (GRCm39) E22D possibly damaging Het
Or9s13 T C 1: 92,548,525 (GRCm39) L299P probably damaging Het
Osr1 T G 12: 9,629,268 (GRCm39) L47R probably damaging Het
Pdlim2 C T 14: 70,402,228 (GRCm39) R296H probably damaging Het
Pik3ap1 T A 19: 41,291,053 (GRCm39) N493I possibly damaging Het
Polr3e T A 7: 120,539,820 (GRCm39) N522K probably damaging Het
Rabgap1 T A 2: 37,385,771 (GRCm39) probably null Het
Rp1l1 C A 14: 64,268,992 (GRCm39) A1526E probably benign Het
Scn3a T A 2: 65,291,878 (GRCm39) I1623F probably damaging Het
Serpinb9e A G 13: 33,437,428 (GRCm39) T104A probably benign Het
Sh3rf3 T C 10: 58,939,989 (GRCm39) probably benign Het
Slc30a3 A G 5: 31,245,748 (GRCm39) Y213H probably damaging Het
Sptbn4 C T 7: 27,106,563 (GRCm39) R955H probably damaging Het
Tfb1m A T 17: 3,569,946 (GRCm39) Y307N probably damaging Het
Tnrc6b G T 15: 80,768,407 (GRCm39) probably null Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Ulk1 A G 5: 110,938,936 (GRCm39) Y501H probably damaging Het
Zbtb17 A G 4: 141,191,914 (GRCm39) H315R probably damaging Het
Zeb2 A G 2: 44,892,624 (GRCm39) Y142H probably damaging Het
Zfr T C 15: 12,160,715 (GRCm39) S763P possibly 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
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
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'- TGGACACTGGTCTAGCTGG -3'
(R):5'- TCACATCAGTGTCTAAATGAAACAC -3'

Sequencing Primer
(F):5'- TGCTCCCGATCCTGTGGAG -3'
(R):5'- GAAACACTTTTCACTGTGTACCC -3'
Posted On 2014-07-14