Incidental Mutation 'R4684:Adamts3'
ID 353505
Institutional Source Beutler Lab
Gene Symbol Adamts3
Ensembl Gene ENSMUSG00000043635
Gene Name a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 3
Synonyms 6330442E02Rik, 1100001H14Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4684 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 89677087-89883334 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 89703007 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 558 (T558P)
Ref Sequence ENSEMBL: ENSMUSP00000058552 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061427] [ENSMUST00000163159]
AlphaFold E9Q287
Predicted Effect probably damaging
Transcript: ENSMUST00000061427
AA Change: T558P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000058552
Gene: ENSMUSG00000043635
AA Change: T558P

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Pep_M12B_propep 42 201 5.1e-40 PFAM
Pfam:Reprolysin_5 254 439 5.4e-15 PFAM
Pfam:Reprolysin_4 256 454 1.9e-10 PFAM
Pfam:Reprolysin 257 460 3.6e-22 PFAM
Pfam:Reprolysin_2 274 451 7.7e-13 PFAM
Pfam:Reprolysin_3 278 409 1.5e-12 PFAM
TSP1 554 606 1.26e-15 SMART
Pfam:ADAM_spacer1 713 827 3e-34 PFAM
TSP1 848 905 4.35e-2 SMART
TSP1 908 967 4.95e-2 SMART
TSP1 969 1016 6.58e-5 SMART
low complexity region 1114 1128 N/A INTRINSIC
low complexity region 1157 1177 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000163159
AA Change: T558P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000132219
Gene: ENSMUSG00000043635
AA Change: T558P

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Pep_M12B_propep 43 201 1.5e-40 PFAM
Pfam:Reprolysin_5 254 439 2.2e-15 PFAM
Pfam:Reprolysin_4 256 454 7.7e-11 PFAM
Pfam:Reprolysin 257 460 3.7e-21 PFAM
Pfam:Reprolysin_2 274 451 4.3e-14 PFAM
Pfam:Reprolysin_3 278 409 1.3e-12 PFAM
TSP1 554 606 1.26e-15 SMART
Pfam:ADAM_spacer1 713 828 3.6e-28 PFAM
TSP1 849 906 4.35e-2 SMART
TSP1 909 968 4.95e-2 SMART
TSP1 970 1017 6.58e-5 SMART
low complexity region 1115 1129 N/A INTRINSIC
low complexity region 1158 1178 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease, a member of the procollagen aminopropeptidase subfamily of proteins, may play a role in the processing of type II fibrillar collagen in articular cartilage. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310039H08Rik T C 17: 46,772,946 (GRCm38) V45A probably benign Het
4921509C19Rik A G 2: 151,471,871 (GRCm38) I629T unknown Het
4933402N03Rik T C 7: 131,138,684 (GRCm38) R268G probably damaging Het
Abca13 A T 11: 9,434,193 (GRCm38) R3882* probably null Het
Ano2 A G 6: 125,790,341 (GRCm38) N214S probably benign Het
Arhgef4 A T 1: 34,811,785 (GRCm38) probably null Het
Boc C T 16: 44,500,380 (GRCm38) A306T probably benign Het
Capn10 T C 1: 92,943,781 (GRCm38) F367S probably damaging Het
Ccdc6 T C 10: 70,189,256 (GRCm38) probably benign Het
Cobll1 G T 2: 65,099,028 (GRCm38) S688R possibly damaging Het
Cpxm2 G T 7: 132,049,038 (GRCm38) P631Q possibly damaging Het
Cyp2c68 A G 19: 39,699,335 (GRCm38) V406A possibly damaging Het
Cyp4a30b T A 4: 115,455,003 (GRCm38) Y118N probably damaging Het
Dgki A T 6: 37,299,846 (GRCm38) probably benign Het
Disp2 A G 2: 118,792,756 (GRCm38) N1323S probably damaging Het
Dock1 T A 7: 134,724,409 (GRCm38) Y42* probably null Het
Eps8l1 C A 7: 4,473,945 (GRCm38) P471Q probably damaging Het
Fam20a A C 11: 109,721,687 (GRCm38) L10R unknown Het
Fpr-rs4 T A 17: 18,022,184 (GRCm38) I151K probably damaging Het
Gga1 C A 15: 78,885,309 (GRCm38) P161T probably damaging Het
Gm8909 A T 17: 36,165,858 (GRCm38) H241Q possibly damaging Het
Gm9923 T A 10: 72,309,476 (GRCm38) Y52* probably null Het
Gucy2g A G 19: 55,206,256 (GRCm38) F910L probably damaging Het
Helz T C 11: 107,649,145 (GRCm38) V315A probably damaging Het
Hk2 T C 6: 82,739,648 (GRCm38) Y301C probably damaging Het
Htt C T 5: 34,852,765 (GRCm38) P1521S probably damaging Het
Iah1 T C 12: 21,316,433 (GRCm38) M1T probably null Het
Ik T C 18: 36,752,414 (GRCm38) S287P probably damaging Het
Itga1 T A 13: 115,049,370 (GRCm38) D32V probably damaging Het
Itpr2 A G 6: 146,373,173 (GRCm38) F837S probably damaging Het
Klk14 A G 7: 43,691,968 (GRCm38) I15V probably benign Het
Kng2 T C 16: 22,987,641 (GRCm38) I603V possibly damaging Het
Lama1 T C 17: 67,773,778 (GRCm38) I1267T possibly damaging Het
Lrp1b A C 2: 40,922,304 (GRCm38) L2430V probably benign Het
Lrrn3 T G 12: 41,454,244 (GRCm38) K25Q possibly damaging Het
Lta4h T A 10: 93,468,816 (GRCm38) N233K probably benign Het
Mapk13 T C 17: 28,770,049 (GRCm38) I53T probably damaging Het
Mdn1 T C 4: 32,666,430 (GRCm38) F123L probably damaging Het
Mettl7b G T 10: 128,960,702 (GRCm38) C79* probably null Het
Myh4 G C 11: 67,245,811 (GRCm38) D472H probably damaging Het
Nipa2 A T 7: 55,935,826 (GRCm38) N121K probably benign Het
Nostrin C T 2: 69,183,924 (GRCm38) T408M probably benign Het
Olfr347 A G 2: 36,734,674 (GRCm38) M118V probably damaging Het
Olfr725 T C 14: 50,034,830 (GRCm38) D191G probably damaging Het
Oosp2 C T 19: 11,649,653 (GRCm38) R102H probably damaging Het
Osgin2 T A 4: 16,001,946 (GRCm38) I202L probably benign Het
Pbld2 C A 10: 63,057,697 (GRCm38) R271S probably damaging Het
Pex6 C T 17: 46,712,101 (GRCm38) T201I probably benign Het
Pilra T C 5: 137,835,515 (GRCm38) I96M probably damaging Het
Pllp T A 8: 94,677,278 (GRCm38) D47V possibly damaging Het
Plxna2 A G 1: 194,762,594 (GRCm38) S765G probably benign Het
Prkca A T 11: 107,961,608 (GRCm38) Y100N probably damaging Het
Prkg1 T A 19: 31,664,179 (GRCm38) K35* probably null Het
Psmc2 A G 5: 21,803,265 (GRCm38) D389G possibly damaging Het
Rnf213 A G 11: 119,441,125 (GRCm38) T2387A probably damaging Het
Ros1 T C 10: 52,129,096 (GRCm38) N914S probably damaging Het
Ruvbl1 C A 6: 88,491,599 (GRCm38) T367K probably benign Het
Scube2 C T 7: 109,810,713 (GRCm38) R525H probably damaging Het
Sec14l4 T C 11: 4,035,200 (GRCm38) probably null Het
Secisbp2l T C 2: 125,745,942 (GRCm38) D751G probably damaging Het
Setd3 T C 12: 108,108,690 (GRCm38) D402G probably benign Het
Slc15a2 T A 16: 36,757,849 (GRCm38) K359N probably damaging Het
Slc25a21 A G 12: 57,196,936 (GRCm38) S2P probably benign Het
Slfn8 A T 11: 83,017,506 (GRCm38) H70Q probably benign Het
Spef2 T C 15: 9,647,490 (GRCm38) I944V probably benign Het
Spg11 A G 2: 122,065,076 (GRCm38) F1887S probably damaging Het
Sptbn4 T C 7: 27,364,419 (GRCm38) E879G probably damaging Het
Sptbn4 A T 7: 27,366,735 (GRCm38) D649E possibly damaging Het
Stx5a C A 19: 8,743,361 (GRCm38) R121S probably damaging Het
Tbcd T C 11: 121,493,771 (GRCm38) L26P probably damaging Het
Tecpr1 T C 5: 144,207,437 (GRCm38) D649G probably benign Het
Tfam A G 10: 71,237,847 (GRCm38) S32P probably benign Het
Trmt44 C T 5: 35,558,043 (GRCm38) R642H probably benign Het
Trpm3 G A 19: 22,987,781 (GRCm38) A1547T probably benign Het
Ttll6 T C 11: 96,153,177 (GRCm38) V519A probably benign Het
Umodl1 T C 17: 30,998,114 (GRCm38) F1107L probably benign Het
Usp5 A T 6: 124,817,956 (GRCm38) V677E probably damaging Het
Utp20 A T 10: 88,807,445 (GRCm38) L605* probably null Het
Utrn T C 10: 12,745,240 (GRCm38) D229G probably damaging Het
Uty A T Y: 1,176,502 (GRCm38) L178* probably null Het
Vmn2r88 A T 14: 51,413,334 (GRCm38) D168V possibly damaging Het
Vps13b T C 15: 35,646,178 (GRCm38) V1476A probably damaging Het
Vps13b C T 15: 35,841,341 (GRCm38) H2506Y probably benign Het
Vps13b C A 15: 35,879,821 (GRCm38) T3014K probably benign Het
Vps37c T C 19: 10,712,768 (GRCm38) V198A probably benign Het
Zfc3h1 T C 10: 115,423,385 (GRCm38) Y1621H probably benign Het
Zfp251 T C 15: 76,854,407 (GRCm38) D162G possibly damaging Het
Zfp292 T C 4: 34,807,078 (GRCm38) T1994A probably benign Het
Zfp791 A G 8: 85,110,930 (GRCm38) Y102H probably benign Het
Other mutations in Adamts3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Adamts3 APN 5 89,861,325 (GRCm38) missense probably damaging 1.00
IGL00340:Adamts3 APN 5 89,701,666 (GRCm38) missense probably damaging 1.00
IGL00923:Adamts3 APN 5 89,684,376 (GRCm38) missense probably benign 0.06
IGL01420:Adamts3 APN 5 89,703,057 (GRCm38) missense possibly damaging 0.57
IGL01522:Adamts3 APN 5 89,702,943 (GRCm38) missense probably benign 0.14
IGL01676:Adamts3 APN 5 89,881,543 (GRCm38) missense possibly damaging 0.54
IGL01676:Adamts3 APN 5 89,677,754 (GRCm38) missense probably benign 0.00
IGL01678:Adamts3 APN 5 89,707,856 (GRCm38) missense probably damaging 1.00
IGL01936:Adamts3 APN 5 89,861,423 (GRCm38) missense probably benign 0.00
IGL01956:Adamts3 APN 5 89,677,911 (GRCm38) missense probably damaging 0.99
IGL02342:Adamts3 APN 5 89,691,473 (GRCm38) splice site probably null
IGL02415:Adamts3 APN 5 89,706,647 (GRCm38) splice site probably null
IGL03261:Adamts3 APN 5 89,882,897 (GRCm38) utr 5 prime probably benign
IGL03301:Adamts3 APN 5 89,707,404 (GRCm38) missense probably damaging 1.00
R0041:Adamts3 UTSW 5 89,684,467 (GRCm38) missense probably benign
R0079:Adamts3 UTSW 5 89,693,053 (GRCm38) missense probably benign 0.00
R0096:Adamts3 UTSW 5 89,701,717 (GRCm38) nonsense probably null
R0096:Adamts3 UTSW 5 89,701,717 (GRCm38) nonsense probably null
R0477:Adamts3 UTSW 5 89,684,507 (GRCm38) missense probably benign
R0605:Adamts3 UTSW 5 89,861,475 (GRCm38) missense possibly damaging 0.96
R1036:Adamts3 UTSW 5 89,696,093 (GRCm38) splice site probably benign
R1462:Adamts3 UTSW 5 89,861,349 (GRCm38) missense probably benign 0.17
R1462:Adamts3 UTSW 5 89,861,349 (GRCm38) missense probably benign 0.17
R1621:Adamts3 UTSW 5 89,721,701 (GRCm38) missense probably damaging 1.00
R1799:Adamts3 UTSW 5 89,775,421 (GRCm38) missense probably benign 0.00
R2163:Adamts3 UTSW 5 89,708,718 (GRCm38) missense probably damaging 0.99
R2412:Adamts3 UTSW 5 89,701,771 (GRCm38) missense probably damaging 0.99
R2420:Adamts3 UTSW 5 89,683,175 (GRCm38) missense probably damaging 0.97
R2421:Adamts3 UTSW 5 89,683,175 (GRCm38) missense probably damaging 0.97
R2422:Adamts3 UTSW 5 89,683,175 (GRCm38) missense probably damaging 0.97
R2921:Adamts3 UTSW 5 89,861,534 (GRCm38) missense possibly damaging 0.90
R2922:Adamts3 UTSW 5 89,861,534 (GRCm38) missense possibly damaging 0.90
R2923:Adamts3 UTSW 5 89,861,534 (GRCm38) missense possibly damaging 0.90
R3402:Adamts3 UTSW 5 89,701,733 (GRCm38) missense probably benign 0.04
R3431:Adamts3 UTSW 5 89,707,453 (GRCm38) splice site probably benign
R3432:Adamts3 UTSW 5 89,707,453 (GRCm38) splice site probably benign
R3813:Adamts3 UTSW 5 89,677,926 (GRCm38) missense possibly damaging 0.67
R3816:Adamts3 UTSW 5 89,705,264 (GRCm38) missense probably damaging 0.99
R3905:Adamts3 UTSW 5 89,861,355 (GRCm38) missense probably damaging 1.00
R3906:Adamts3 UTSW 5 89,861,355 (GRCm38) missense probably damaging 1.00
R3907:Adamts3 UTSW 5 89,861,355 (GRCm38) missense probably damaging 1.00
R3908:Adamts3 UTSW 5 89,861,355 (GRCm38) missense probably damaging 1.00
R4557:Adamts3 UTSW 5 89,700,487 (GRCm38) missense probably benign 0.03
R4844:Adamts3 UTSW 5 89,677,816 (GRCm38) missense probably damaging 0.99
R4925:Adamts3 UTSW 5 89,684,323 (GRCm38) missense probably benign 0.01
R5097:Adamts3 UTSW 5 89,693,050 (GRCm38) missense probably damaging 0.97
R5100:Adamts3 UTSW 5 89,708,643 (GRCm38) missense probably damaging 1.00
R5237:Adamts3 UTSW 5 89,775,377 (GRCm38) missense probably benign
R5265:Adamts3 UTSW 5 89,861,552 (GRCm38) missense possibly damaging 0.91
R5322:Adamts3 UTSW 5 89,707,300 (GRCm38) splice site probably null
R5413:Adamts3 UTSW 5 89,708,767 (GRCm38) missense probably damaging 1.00
R5459:Adamts3 UTSW 5 89,691,473 (GRCm38) splice site probably null
R5738:Adamts3 UTSW 5 89,708,668 (GRCm38) missense probably damaging 1.00
R5979:Adamts3 UTSW 5 89,861,669 (GRCm38) missense probably damaging 0.96
R5992:Adamts3 UTSW 5 89,691,335 (GRCm38) missense probably damaging 1.00
R6364:Adamts3 UTSW 5 89,721,814 (GRCm38) missense possibly damaging 0.92
R6572:Adamts3 UTSW 5 89,861,609 (GRCm38) missense possibly damaging 0.87
R7098:Adamts3 UTSW 5 89,861,495 (GRCm38) missense probably damaging 1.00
R7172:Adamts3 UTSW 5 89,883,001 (GRCm38) start gained probably benign
R7263:Adamts3 UTSW 5 89,677,742 (GRCm38) missense probably benign 0.03
R7401:Adamts3 UTSW 5 89,707,450 (GRCm38) critical splice acceptor site probably null
R7599:Adamts3 UTSW 5 89,861,397 (GRCm38) missense probably benign 0.00
R7829:Adamts3 UTSW 5 89,861,490 (GRCm38) missense probably damaging 1.00
R7835:Adamts3 UTSW 5 89,700,440 (GRCm38) missense possibly damaging 0.70
R7892:Adamts3 UTSW 5 89,861,429 (GRCm38) missense probably benign 0.10
R8021:Adamts3 UTSW 5 89,683,184 (GRCm38) missense possibly damaging 0.47
R8289:Adamts3 UTSW 5 89,775,423 (GRCm38) missense possibly damaging 0.89
R8350:Adamts3 UTSW 5 89,702,956 (GRCm38) missense probably damaging 1.00
R8468:Adamts3 UTSW 5 89,694,768 (GRCm38) missense probably benign 0.19
R8827:Adamts3 UTSW 5 89,691,465 (GRCm38) missense probably benign 0.03
R8864:Adamts3 UTSW 5 89,707,122 (GRCm38) intron probably benign
R8906:Adamts3 UTSW 5 89,677,716 (GRCm38) missense probably damaging 0.98
R9000:Adamts3 UTSW 5 89,706,711 (GRCm38) missense probably benign 0.17
R9005:Adamts3 UTSW 5 89,677,834 (GRCm38) missense probably benign 0.08
R9378:Adamts3 UTSW 5 89,700,410 (GRCm38) nonsense probably null
R9505:Adamts3 UTSW 5 89,707,892 (GRCm38) missense probably damaging 1.00
R9516:Adamts3 UTSW 5 89,686,891 (GRCm38) missense probably damaging 1.00
X0064:Adamts3 UTSW 5 89,703,042 (GRCm38) missense possibly damaging 0.75
Z1088:Adamts3 UTSW 5 89,684,449 (GRCm38) missense probably damaging 0.99
Z1176:Adamts3 UTSW 5 89,775,351 (GRCm38) missense not run
Z1177:Adamts3 UTSW 5 89,775,351 (GRCm38) missense not run
Z1177:Adamts3 UTSW 5 89,707,864 (GRCm38) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GAGCAGTACTTTCCATAGCCTC -3'
(R):5'- GGATACCTTTGTGCAGCAAATG -3'

Sequencing Primer
(F):5'- GCCTCTGTTTTTCCAAATGAGATG -3'
(R):5'- GCAAATGCCTATGGGTATCTTAAATC -3'
Posted On 2015-10-21