Incidental Mutation 'IGL01366:Adamts2'
ID 75925
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adamts2
Ensembl Gene ENSMUSG00000036545
Gene Name ADAM metallopeptidase with thrombospondin type 1 motif 2
Synonyms a disintegrin and metalloproteinase with thrombospondin repeats, hPCPNI, ADAM-TS2, procollagen N-proteinase
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # IGL01366
Quality Score
Status
Chromosome 11
Chromosomal Location 50492912-50698400 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 50687295 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 1041 (Y1041H)
Ref Sequence ENSEMBL: ENSMUSP00000040171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040523]
AlphaFold Q8C9W3
Predicted Effect probably damaging
Transcript: ENSMUST00000040523
AA Change: Y1041H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000040171
Gene: ENSMUSG00000036545
AA Change: Y1041H

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
low complexity region 44 52 N/A INTRINSIC
Pfam:Pep_M12B_propep 56 211 2.6e-39 PFAM
low complexity region 214 225 N/A INTRINSIC
coiled coil region 236 260 N/A INTRINSIC
Pfam:Reprolysin_5 265 450 1.4e-15 PFAM
Pfam:Reprolysin_4 267 464 7.1e-11 PFAM
Pfam:Reprolysin 268 471 2.4e-20 PFAM
Pfam:Reprolysin_2 285 463 9.1e-14 PFAM
Pfam:Reprolysin_3 289 420 8.7e-13 PFAM
TSP1 565 617 9.73e-17 SMART
Pfam:ADAM_spacer1 724 838 5.1e-33 PFAM
low complexity region 839 853 N/A INTRINSIC
TSP1 858 915 1.05e-3 SMART
TSP1 918 977 2.78e-3 SMART
TSP1 980 1030 4.99e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142118
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin repeats) family of proteinases that is involved in the proteolytic processing of procollagens. The encoded protein precursor is proteolytically processed to generate a mature, zinc-dependent enzyme. Mice lacking the encoded protein develop abnormal lungs, fragile skin and male sterility. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygous mutation of this gene results in a short snout, male infertility, and thin skin that is torn by scratching or handling. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310002L09Rik A T 4: 73,868,937 (GRCm39) probably benign Het
Adck5 A C 15: 76,479,816 (GRCm39) *568C probably null Het
AK157302 T A 13: 21,679,471 (GRCm39) probably benign Het
Bmpr2 G T 1: 59,852,836 (GRCm39) G56W probably damaging Het
Capn11 A C 17: 45,964,126 (GRCm39) I146S probably damaging Het
Ccdc162 A T 10: 41,456,302 (GRCm39) D1613E possibly damaging Het
Ccdc167 T C 17: 29,924,286 (GRCm39) E50G probably damaging Het
Col5a2 G T 1: 45,431,048 (GRCm39) P864Q possibly damaging Het
Col7a1 C T 9: 108,806,187 (GRCm39) probably benign Het
Crebbp T A 16: 3,944,370 (GRCm39) H556L probably damaging Het
Dcpp1 T A 17: 24,101,710 (GRCm39) I153N possibly damaging Het
Dgke C T 11: 88,946,212 (GRCm39) R196H probably benign Het
Efr3a T A 15: 65,722,999 (GRCm39) I459K probably benign Het
Espl1 T A 15: 102,228,271 (GRCm39) C1682S probably benign Het
Exosc3 C T 4: 45,317,747 (GRCm39) R185H probably damaging Het
Fgd6 T C 10: 93,879,338 (GRCm39) V64A possibly damaging Het
Fhip2b G A 14: 70,822,813 (GRCm39) R688C probably damaging Het
Gata3 A G 2: 9,882,276 (GRCm39) L42P probably damaging Het
Ggta1 C A 2: 35,292,462 (GRCm39) E282* probably null Het
Ghr T C 15: 3,349,669 (GRCm39) D503G probably damaging Het
Gls C T 1: 52,207,558 (GRCm39) G602D probably damaging Het
Gm2058 A G 7: 39,238,658 (GRCm39) noncoding transcript Het
Grb7 T C 11: 98,343,100 (GRCm39) probably benign Het
Ifngr1 A T 10: 19,485,348 (GRCm39) H449L probably damaging Het
Ighg2b T G 12: 113,270,656 (GRCm39) D158A possibly damaging Het
Nphs2 T C 1: 156,138,605 (GRCm39) V83A probably benign Het
Parp6 T A 9: 59,543,996 (GRCm39) M390K possibly damaging Het
Pask T C 1: 93,238,574 (GRCm39) K1304E probably benign Het
Scai A G 2: 38,996,973 (GRCm39) S274P probably benign Het
Sik2 A G 9: 50,818,763 (GRCm39) S404P probably damaging Het
Slc7a8 A T 14: 55,018,645 (GRCm39) I47N probably damaging Het
Tas2r113 A T 6: 132,870,760 (GRCm39) I263F probably benign Het
Tdrd1 T A 19: 56,843,734 (GRCm39) D737E probably benign Het
Trio T C 15: 27,732,954 (GRCm39) T2976A possibly damaging Het
Ttc28 T C 5: 111,233,037 (GRCm39) probably null Het
Vmn1r21 A G 6: 57,820,799 (GRCm39) I215T probably benign Het
Other mutations in Adamts2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01309:Adamts2 APN 11 50,694,528 (GRCm39) missense probably benign 0.00
IGL01412:Adamts2 APN 11 50,686,230 (GRCm39) missense probably benign 0.43
IGL01443:Adamts2 APN 11 50,694,690 (GRCm39) missense possibly damaging 0.54
IGL01974:Adamts2 APN 11 50,667,001 (GRCm39) missense probably damaging 0.99
IGL02267:Adamts2 APN 11 50,683,505 (GRCm39) missense probably benign 0.00
IGL02498:Adamts2 APN 11 50,668,023 (GRCm39) missense probably damaging 1.00
IGL02498:Adamts2 APN 11 50,664,135 (GRCm39) missense possibly damaging 0.81
IGL02626:Adamts2 APN 11 50,667,082 (GRCm39) missense probably damaging 0.99
IGL02634:Adamts2 APN 11 50,683,548 (GRCm39) nonsense probably null
IGL02643:Adamts2 APN 11 50,679,527 (GRCm39) missense probably benign 0.01
IGL02836:Adamts2 APN 11 50,678,106 (GRCm39) missense probably damaging 1.00
IGL03012:Adamts2 APN 11 50,667,096 (GRCm39) splice site probably benign
ANU22:Adamts2 UTSW 11 50,628,190 (GRCm39) missense probably benign 0.06
H8441:Adamts2 UTSW 11 50,675,505 (GRCm39) missense probably damaging 1.00
R0050:Adamts2 UTSW 11 50,666,222 (GRCm39) missense probably damaging 1.00
R0050:Adamts2 UTSW 11 50,666,222 (GRCm39) missense probably damaging 1.00
R0240:Adamts2 UTSW 11 50,666,201 (GRCm39) missense probably damaging 1.00
R0240:Adamts2 UTSW 11 50,666,201 (GRCm39) missense probably damaging 1.00
R0491:Adamts2 UTSW 11 50,667,457 (GRCm39) missense probably damaging 0.98
R0501:Adamts2 UTSW 11 50,558,972 (GRCm39) missense probably benign 0.16
R0570:Adamts2 UTSW 11 50,666,963 (GRCm39) missense probably damaging 1.00
R0588:Adamts2 UTSW 11 50,667,491 (GRCm39) missense probably damaging 1.00
R0647:Adamts2 UTSW 11 50,494,265 (GRCm39) missense probably damaging 1.00
R0760:Adamts2 UTSW 11 50,666,153 (GRCm39) missense probably damaging 1.00
R0784:Adamts2 UTSW 11 50,558,830 (GRCm39) missense probably damaging 1.00
R1163:Adamts2 UTSW 11 50,670,541 (GRCm39) missense probably damaging 1.00
R1623:Adamts2 UTSW 11 50,558,942 (GRCm39) missense possibly damaging 0.79
R1641:Adamts2 UTSW 11 50,683,612 (GRCm39) missense probably damaging 1.00
R1779:Adamts2 UTSW 11 50,647,524 (GRCm39) missense probably damaging 0.99
R2163:Adamts2 UTSW 11 50,679,632 (GRCm39) missense probably benign 0.36
R2177:Adamts2 UTSW 11 50,668,055 (GRCm39) missense probably damaging 0.98
R2508:Adamts2 UTSW 11 50,679,516 (GRCm39) missense possibly damaging 0.82
R3721:Adamts2 UTSW 11 50,664,038 (GRCm39) splice site probably benign
R4092:Adamts2 UTSW 11 50,678,103 (GRCm39) missense probably damaging 0.99
R4691:Adamts2 UTSW 11 50,647,523 (GRCm39) missense probably damaging 1.00
R4785:Adamts2 UTSW 11 50,683,549 (GRCm39) missense probably benign 0.00
R4809:Adamts2 UTSW 11 50,694,517 (GRCm39) missense probably benign 0.17
R4823:Adamts2 UTSW 11 50,628,014 (GRCm39) missense probably benign 0.26
R4927:Adamts2 UTSW 11 50,694,639 (GRCm39) nonsense probably null
R4976:Adamts2 UTSW 11 50,628,193 (GRCm39) missense possibly damaging 0.67
R5118:Adamts2 UTSW 11 50,672,696 (GRCm39) missense probably damaging 0.99
R5478:Adamts2 UTSW 11 50,683,478 (GRCm39) missense possibly damaging 0.83
R5660:Adamts2 UTSW 11 50,667,472 (GRCm39) missense probably damaging 1.00
R5734:Adamts2 UTSW 11 50,679,494 (GRCm39) missense probably damaging 1.00
R5865:Adamts2 UTSW 11 50,694,781 (GRCm39) nonsense probably null
R6079:Adamts2 UTSW 11 50,647,533 (GRCm39) missense probably damaging 1.00
R6138:Adamts2 UTSW 11 50,647,533 (GRCm39) missense probably damaging 1.00
R6257:Adamts2 UTSW 11 50,666,153 (GRCm39) missense probably damaging 1.00
R6540:Adamts2 UTSW 11 50,679,567 (GRCm39) missense possibly damaging 0.77
R6897:Adamts2 UTSW 11 50,627,991 (GRCm39) critical splice acceptor site probably null
R7103:Adamts2 UTSW 11 50,628,181 (GRCm39) missense probably damaging 0.98
R7229:Adamts2 UTSW 11 50,682,647 (GRCm39) missense probably damaging 1.00
R7261:Adamts2 UTSW 11 50,677,424 (GRCm39) missense possibly damaging 0.48
R7335:Adamts2 UTSW 11 50,493,093 (GRCm39) missense probably benign 0.18
R7373:Adamts2 UTSW 11 50,686,262 (GRCm39) missense probably benign 0.00
R7505:Adamts2 UTSW 11 50,687,347 (GRCm39) missense probably benign 0.00
R7971:Adamts2 UTSW 11 50,647,523 (GRCm39) missense probably damaging 1.00
R8081:Adamts2 UTSW 11 50,668,004 (GRCm39) missense probably damaging 0.99
R8167:Adamts2 UTSW 11 50,670,541 (GRCm39) missense probably damaging 1.00
R8256:Adamts2 UTSW 11 50,683,583 (GRCm39) missense probably benign 0.41
R8298:Adamts2 UTSW 11 50,667,958 (GRCm39) missense possibly damaging 0.91
R8343:Adamts2 UTSW 11 50,494,315 (GRCm39) missense probably damaging 1.00
R8518:Adamts2 UTSW 11 50,666,957 (GRCm39) missense probably damaging 1.00
R8716:Adamts2 UTSW 11 50,664,091 (GRCm39) missense probably damaging 1.00
R8865:Adamts2 UTSW 11 50,672,571 (GRCm39) nonsense probably null
R8968:Adamts2 UTSW 11 50,683,550 (GRCm39) missense possibly damaging 0.72
R9436:Adamts2 UTSW 11 50,694,507 (GRCm39) missense probably benign 0.00
R9694:Adamts2 UTSW 11 50,558,972 (GRCm39) missense probably benign 0.16
R9720:Adamts2 UTSW 11 50,666,954 (GRCm39) missense probably damaging 0.97
R9750:Adamts2 UTSW 11 50,494,333 (GRCm39) missense probably benign 0.00
U15987:Adamts2 UTSW 11 50,647,533 (GRCm39) missense probably damaging 1.00
X0065:Adamts2 UTSW 11 50,694,476 (GRCm39) nonsense probably null
Z1176:Adamts2 UTSW 11 50,683,535 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07