Incidental Mutation 'IGL02836:Adamts2'
ID 361635
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 # IGL02836
Quality Score
Status
Chromosome 11
Chromosomal Location 50492912-50698400 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 50678106 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 795 (E795A)
Ref Sequence ENSEMBL: ENSMUSP00000040171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040523]
AlphaFold Q8C9W3
Predicted Effect probably damaging
Transcript: ENSMUST00000040523
AA Change: E795A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040171
Gene: ENSMUSG00000036545
AA Change: E795A

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: ENSMUST00000127534
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 T A 4: 144,349,782 (GRCm39) N346K possibly damaging Het
Abca15 A G 7: 119,987,439 (GRCm39) M1242V probably benign Het
Abca6 T A 11: 110,139,374 (GRCm39) E33D probably damaging Het
Abca8a T C 11: 109,961,177 (GRCm39) K582E possibly damaging Het
Abcb6 A G 1: 75,154,646 (GRCm39) L263P probably damaging Het
Avil T A 10: 126,844,864 (GRCm39) I292N probably damaging Het
Cd300ld2 T C 11: 114,904,576 (GRCm39) D97G probably benign Het
Cfh A C 1: 140,030,137 (GRCm39) I912R probably damaging Het
Cyp26c1 A T 19: 37,675,604 (GRCm39) Q156L probably benign Het
Dhx57 T C 17: 80,574,978 (GRCm39) I614V probably damaging Het
Dip2c T A 13: 9,660,826 (GRCm39) S896T probably damaging Het
Dmtn G T 14: 70,853,518 (GRCm39) P97Q probably damaging Het
Dock6 A T 9: 21,713,160 (GRCm39) V1931E probably damaging Het
Dpep2 C A 8: 106,717,227 (GRCm39) probably null Het
Dsg1c T A 18: 20,400,986 (GRCm39) L163Q probably benign Het
Esyt3 A G 9: 99,202,960 (GRCm39) probably benign Het
Fcgbp T A 7: 27,816,783 (GRCm39) I2415N possibly damaging Het
Fpr-rs6 T C 17: 20,403,307 (GRCm39) D18G probably benign Het
Fras1 T C 5: 96,682,725 (GRCm39) V74A possibly damaging Het
Frem3 T C 8: 81,341,010 (GRCm39) V1101A probably benign Het
Fut8 T A 12: 77,496,987 (GRCm39) V399E probably benign Het
Galntl5 G T 5: 25,391,237 (GRCm39) K45N probably benign Het
Gbe1 A G 16: 70,357,983 (GRCm39) Y669C possibly damaging Het
Gcnt1 T C 19: 17,307,493 (GRCm39) I77M probably benign Het
Itprid1 T A 6: 55,875,075 (GRCm39) W342R probably damaging Het
Mark2 A G 19: 7,255,405 (GRCm39) probably null Het
Muc2 A T 7: 141,300,450 (GRCm39) probably benign Het
Nacc2 C T 2: 25,980,329 (GRCm39) V36I probably damaging Het
Nphp1 T C 2: 127,611,543 (GRCm39) I268V probably benign Het
Oosp3 A G 19: 11,678,332 (GRCm39) I5V probably benign Het
Or9m1 T G 2: 87,733,724 (GRCm39) T99P possibly damaging Het
Pex7 A G 10: 19,769,990 (GRCm39) probably benign Het
Prr14l T C 5: 32,988,440 (GRCm39) K352E probably benign Het
Rheb T A 5: 25,008,709 (GRCm39) I170F probably benign Het
Rpgrip1 A G 14: 52,382,714 (GRCm39) probably null Het
Rps2 T A 17: 24,939,650 (GRCm39) L107Q probably damaging Het
Rrp1 A T 10: 78,240,874 (GRCm39) probably benign Het
Rtcb A T 10: 85,779,806 (GRCm39) V288D possibly damaging Het
Sec14l3 T C 11: 4,020,084 (GRCm39) F174L probably benign Het
Slc28a1 G A 7: 80,775,909 (GRCm39) V202M probably damaging Het
Slc44a3 A T 3: 121,325,366 (GRCm39) C32S probably damaging Het
Syne1 G A 10: 5,359,875 (GRCm39) probably benign Het
Synrg C A 11: 83,892,804 (GRCm39) probably benign Het
Tmem219 A T 7: 126,488,121 (GRCm39) F265I probably benign Het
Tmem94 T C 11: 115,683,765 (GRCm39) I726T probably damaging Het
Trim37 T C 11: 87,087,785 (GRCm39) M632T probably benign Het
Trpm6 A T 19: 18,790,846 (GRCm39) Q627L probably damaging Het
Uvrag A G 7: 98,628,984 (GRCm39) V361A possibly damaging Het
Yipf3 C A 17: 46,562,520 (GRCm39) N308K possibly damaging Het
Zfp438 A G 18: 5,245,427 (GRCm39) probably benign Het
Zmiz1 T A 14: 25,657,166 (GRCm39) probably benign Het
Zranb3 A G 1: 127,888,562 (GRCm39) V841A probably benign Het
Other mutations in Adamts2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01309:Adamts2 APN 11 50,694,528 (GRCm39) missense probably benign 0.00
IGL01366:Adamts2 APN 11 50,687,295 (GRCm39) missense probably damaging 1.00
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
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 2015-12-18