Incidental Mutation 'IGL02207:Adamtsl2'
ID 284545
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adamtsl2
Ensembl Gene ENSMUSG00000036040
Gene Name ADAMTS-like 2
Synonyms A930008K15Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02207
Quality Score
Chromosome 2
Chromosomal Location 27079379-27108981 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 27102981 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 702 (E702G)
Ref Sequence ENSEMBL: ENSMUSP00000088774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091233]
AlphaFold Q7TSK7
Predicted Effect probably damaging
Transcript: ENSMUST00000091233
AA Change: E702G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000088774
Gene: ENSMUSG00000036040
AA Change: E702G

signal peptide 1 29 N/A INTRINSIC
TSP1 50 106 5.14e-7 SMART
Pfam:ADAM_spacer1 214 331 5.4e-28 PFAM
low complexity region 345 358 N/A INTRINSIC
TSP1 573 629 8.15e-1 SMART
TSP1 631 692 1.85e-2 SMART
TSP1 694 744 4.15e-1 SMART
TSP1 747 796 9.98e-5 SMART
TSP1 803 861 4.95e-2 SMART
TSP1 863 914 2.53e-6 SMART
Pfam:PLAC 922 953 1.4e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130600
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139633
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143246
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169787
Coding Region Coverage
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) and ADAMTS-like 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 protein encoded by this gene lacks the protease domain, and is therefore of a member of the the ADAMTS-like protein subfamily. It is a secreted glycoprotein that binds the cell surface and extracellular matrix; it also interacts with latent transforming growth factor beta binding protein 1. Mutations in this gene have been associated with geleophysic dysplasia. [provided by RefSeq, Feb 2009]
PHENOTYPE: Homozygous null mice die shortly after birth, are cyanotic and exhibit respiratory distress. Severe bronchial epithelial dysplasia with abnormal glycogen-rich inclusions in the bronchial epithelium is observed. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110034G24Rik A T 2: 132,691,946 (GRCm38) probably benign Het
Adgre5 T C 8: 83,728,284 (GRCm38) T260A probably damaging Het
Agap3 A T 5: 24,499,936 (GRCm38) T660S probably benign Het
Amotl2 A T 9: 102,724,697 (GRCm38) E380V probably damaging Het
Ap4e1 A G 2: 127,011,816 (GRCm38) E58G probably damaging Het
Arap3 G A 18: 37,987,853 (GRCm38) A713V probably benign Het
B4galt2 T C 4: 117,881,521 (GRCm38) D33G probably damaging Het
Bbs7 A T 3: 36,604,490 (GRCm38) S212T probably benign Het
Ccl26 A G 5: 135,563,370 (GRCm38) Y38H probably benign Het
Ccne2 A T 4: 11,202,261 (GRCm38) S339C probably benign Het
Cd55 A G 1: 130,452,419 (GRCm38) V274A possibly damaging Het
Cenpw T G 10: 30,198,581 (GRCm38) probably null Het
Chrnb4 T C 9: 55,035,216 (GRCm38) D258G probably damaging Het
Col4a3bp T C 13: 96,624,792 (GRCm38) probably null Het
Commd3 T C 2: 18,674,008 (GRCm38) probably null Het
Csgalnact1 C A 8: 68,401,492 (GRCm38) G219V probably damaging Het
Cyp2b23 C A 7: 26,681,755 (GRCm38) R59L probably damaging Het
Edar G T 10: 58,610,521 (GRCm38) T194K probably damaging Het
Edem3 A G 1: 151,808,360 (GRCm38) I733V possibly damaging Het
Elmod2 T C 8: 83,321,506 (GRCm38) Y109C probably benign Het
Eps15 C T 4: 109,304,748 (GRCm38) probably benign Het
Fat4 T C 3: 38,951,263 (GRCm38) V1937A probably benign Het
Fdx1l T A 9: 21,068,119 (GRCm38) probably null Het
Flg2 A T 3: 93,220,128 (GRCm38) I2116F unknown Het
Gm15091 A G X: 149,977,466 (GRCm38) D424G possibly damaging Het
Gm16380 T A 9: 53,884,539 (GRCm38) noncoding transcript Het
Gm6614 A T 6: 141,990,432 (GRCm38) I309N possibly damaging Het
Gpn2 G A 4: 133,584,636 (GRCm38) V60M possibly damaging Het
Grip1 G A 10: 120,075,309 (GRCm38) R1044K probably damaging Het
H2-D1 T A 17: 35,263,414 (GRCm38) S37T possibly damaging Het
Havcr1 C T 11: 46,778,576 (GRCm38) A294V probably benign Het
Herc4 G A 10: 63,299,244 (GRCm38) probably null Het
Ift140 A G 17: 25,055,598 (GRCm38) Y748C probably benign Het
Il20ra A G 10: 19,751,578 (GRCm38) T242A probably damaging Het
Ilvbl G A 10: 78,583,702 (GRCm38) probably null Het
Kif18a A T 2: 109,296,707 (GRCm38) I329L probably damaging Het
Kmt2a T A 9: 44,847,682 (GRCm38) I957F probably damaging Het
Krt1 A G 15: 101,848,616 (GRCm38) I282T possibly damaging Het
Lamb1 T G 12: 31,329,435 (GRCm38) V1768G probably damaging Het
Nek9 A T 12: 85,303,483 (GRCm38) L939* probably null Het
Nfe2l2 A G 2: 75,678,525 (GRCm38) L122P probably damaging Het
Nin T C 12: 70,056,657 (GRCm38) M270V probably damaging Het
Nlrp4a G T 7: 26,449,278 (GRCm38) K103N possibly damaging Het
Nrde2 T C 12: 100,130,931 (GRCm38) Y870C probably benign Het
Nsmce2 A G 15: 59,416,078 (GRCm38) M71V probably benign Het
Ocstamp T C 2: 165,397,663 (GRCm38) H201R possibly damaging Het
Olfr1126 A G 2: 87,457,450 (GRCm38) D95G probably benign Het
Olfr744 G A 14: 50,618,558 (GRCm38) G112D probably damaging Het
Oog4 T C 4: 143,438,940 (GRCm38) I212M probably benign Het
Osmr T C 15: 6,847,147 (GRCm38) T99A probably benign Het
Pdia4 A T 6: 47,796,807 (GRCm38) M536K probably benign Het
Pdyn A T 2: 129,688,518 (GRCm38) L77H probably damaging Het
Pikfyve T C 1: 65,251,678 (GRCm38) probably null Het
Plcb1 A G 2: 135,387,171 (GRCm38) E1105G probably damaging Het
Rb1 A T 14: 73,206,085 (GRCm38) D743E probably damaging Het
Rdh14 G A 12: 10,394,712 (GRCm38) V188I possibly damaging Het
Scd3 T C 19: 44,215,589 (GRCm38) V72A possibly damaging Het
Slc25a27 G A 17: 43,661,684 (GRCm38) R104W probably damaging Het
Slc29a4 A G 5: 142,718,885 (GRCm38) D394G possibly damaging Het
Snx29 T G 16: 11,738,352 (GRCm38) M407R probably damaging Het
Syf2 A G 4: 134,935,052 (GRCm38) probably null Het
Syn1 T C X: 20,865,137 (GRCm38) Q321R probably benign Het
Tbc1d12 A T 19: 38,916,647 (GRCm38) D602V probably damaging Het
Tenm4 A T 7: 96,874,116 (GRCm38) I1585F possibly damaging Het
Tgfbr1 A G 4: 47,410,785 (GRCm38) probably benign Het
Trav6-2 G A 14: 52,667,432 (GRCm38) V8M possibly damaging Het
Unc119b A G 5: 115,134,754 (GRCm38) S53P probably benign Het
Vmp1 T A 11: 86,607,193 (GRCm38) I299F possibly damaging Het
Xpot T C 10: 121,613,580 (GRCm38) Y194C probably damaging Het
Zbtb10 T A 3: 9,280,465 (GRCm38) probably null Het
Other mutations in Adamtsl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00423:Adamtsl2 APN 2 27,085,088 (GRCm38) missense probably damaging 1.00
IGL01902:Adamtsl2 APN 2 27,087,252 (GRCm38) missense probably damaging 1.00
IGL02247:Adamtsl2 APN 2 27,084,893 (GRCm38) missense probably damaging 1.00
IGL02253:Adamtsl2 APN 2 27,098,697 (GRCm38) missense possibly damaging 0.48
IGL02655:Adamtsl2 APN 2 27,082,530 (GRCm38) splice site probably benign
IGL03148:Adamtsl2 APN 2 27,084,059 (GRCm38) missense probably damaging 0.99
IGL03269:Adamtsl2 APN 2 27,108,355 (GRCm38) nonsense probably null
R0609:Adamtsl2 UTSW 2 27,089,635 (GRCm38) missense probably benign 0.25
R1183:Adamtsl2 UTSW 2 27,084,080 (GRCm38) missense probably damaging 1.00
R1443:Adamtsl2 UTSW 2 27,103,066 (GRCm38) missense possibly damaging 0.89
R1675:Adamtsl2 UTSW 2 27,082,485 (GRCm38) frame shift probably null
R1698:Adamtsl2 UTSW 2 27,103,127 (GRCm38) missense possibly damaging 0.92
R1765:Adamtsl2 UTSW 2 27,102,830 (GRCm38) missense probably benign 0.01
R1934:Adamtsl2 UTSW 2 27,089,593 (GRCm38) missense probably damaging 0.99
R2106:Adamtsl2 UTSW 2 27,102,825 (GRCm38) missense probably benign 0.02
R2108:Adamtsl2 UTSW 2 27,095,558 (GRCm38) missense probably benign
R2189:Adamtsl2 UTSW 2 27,081,738 (GRCm38) missense probably benign 0.00
R2232:Adamtsl2 UTSW 2 27,103,178 (GRCm38) missense probably damaging 1.00
R4301:Adamtsl2 UTSW 2 27,087,283 (GRCm38) missense probably null 1.00
R4518:Adamtsl2 UTSW 2 27,095,547 (GRCm38) missense probably benign 0.00
R4572:Adamtsl2 UTSW 2 27,083,256 (GRCm38) missense probably damaging 0.99
R4627:Adamtsl2 UTSW 2 27,093,585 (GRCm38) missense probably damaging 0.99
R4668:Adamtsl2 UTSW 2 27,095,475 (GRCm38) missense probably benign 0.00
R4686:Adamtsl2 UTSW 2 27,093,825 (GRCm38) missense probably damaging 0.99
R4821:Adamtsl2 UTSW 2 27,098,592 (GRCm38) splice site probably null
R5054:Adamtsl2 UTSW 2 27,101,720 (GRCm38) missense probably damaging 1.00
R5460:Adamtsl2 UTSW 2 27,095,398 (GRCm38) splice site probably null
R5569:Adamtsl2 UTSW 2 27,102,833 (GRCm38) missense probably damaging 1.00
R5694:Adamtsl2 UTSW 2 27,081,724 (GRCm38) missense probably benign 0.03
R6836:Adamtsl2 UTSW 2 27,081,706 (GRCm38) start codon destroyed probably null 0.90
R7103:Adamtsl2 UTSW 2 27,107,461 (GRCm38) missense probably damaging 1.00
R7437:Adamtsl2 UTSW 2 27,089,709 (GRCm38) missense probably damaging 0.99
R8089:Adamtsl2 UTSW 2 27,104,797 (GRCm38) missense probably benign 0.00
R8389:Adamtsl2 UTSW 2 27,103,124 (GRCm38) missense possibly damaging 0.71
R9284:Adamtsl2 UTSW 2 27,104,043 (GRCm38) splice site probably benign
R9566:Adamtsl2 UTSW 2 27,089,761 (GRCm38) critical splice donor site probably null
R9772:Adamtsl2 UTSW 2 27,095,654 (GRCm38) missense probably benign
X0003:Adamtsl2 UTSW 2 27,081,773 (GRCm38) small deletion probably benign
X0003:Adamtsl2 UTSW 2 27,081,772 (GRCm38) small deletion probably benign
Z1176:Adamtsl2 UTSW 2 27,081,720 (GRCm38) missense probably benign 0.03
Posted On 2015-04-16