Incidental Mutation 'R2232:Adamtsl2'
ID 240079
Institutional Source Beutler Lab
Gene Symbol Adamtsl2
Ensembl Gene ENSMUSG00000036040
Gene Name ADAMTS-like 2
Synonyms A930008K15Rik
MMRRC Submission 040233-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2232 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 26969391-26998993 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 26993190 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 740 (G740E)
Ref Sequence ENSEMBL: ENSMUSP00000088774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091233]
AlphaFold Q7TSK7
Predicted Effect probably damaging
Transcript: ENSMUST00000091233
AA Change: G740E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088774
Gene: ENSMUSG00000036040
AA Change: G740E

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
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1a A C 5: 121,657,795 (GRCm39) D499E possibly damaging Het
Adgrf4 C T 17: 42,977,789 (GRCm39) R518Q possibly damaging Het
Akap9 G A 5: 4,096,603 (GRCm39) V2493I probably damaging Het
Ankra2 T C 13: 98,407,646 (GRCm39) F199L probably damaging Het
Ankrd63 A G 2: 118,533,846 (GRCm39) probably benign Het
Asns A G 6: 7,689,316 (GRCm39) I62T possibly damaging Het
Celf3 T A 3: 94,387,566 (GRCm39) probably null Het
Cyp4f37 A G 17: 32,853,244 (GRCm39) T403A probably benign Het
Dennd2b T C 7: 109,156,414 (GRCm39) D112G probably benign Het
Dgkd T A 1: 87,857,464 (GRCm39) S725R probably benign Het
Dnah5 G A 15: 28,408,563 (GRCm39) probably null Het
Entrep2 G A 7: 64,408,970 (GRCm39) H475Y probably damaging Het
Ergic3 A G 2: 155,859,736 (GRCm39) T346A probably damaging Het
Fam227a T A 15: 79,499,582 (GRCm39) Y591F possibly damaging Het
Gal3st1 T C 11: 3,948,282 (GRCm39) I163T probably benign Het
Ghrhr T C 6: 55,362,444 (GRCm39) F347S probably damaging Het
Htr2a A T 14: 74,882,469 (GRCm39) I152F probably damaging Het
Il17re T C 6: 113,441,761 (GRCm39) C219R probably damaging Het
Kansl2 A G 15: 98,422,359 (GRCm39) L403S probably damaging Het
Kif21a G A 15: 90,869,565 (GRCm39) Q429* probably null Het
L1cam T A X: 72,904,947 (GRCm39) N503I possibly damaging Het
Lrrk2 A G 15: 91,648,919 (GRCm39) K1638E probably benign Het
Mcpt9 A T 14: 56,265,445 (GRCm39) C85S probably benign Het
Mindy3 C A 2: 12,408,856 (GRCm39) R73M probably benign Het
Mrgprb3 T C 7: 48,292,770 (GRCm39) I260M probably benign Het
Nes T A 3: 87,886,238 (GRCm39) I1499N possibly damaging Het
Ninl A G 2: 150,791,970 (GRCm39) V851A probably benign Het
Oaz3 T C 3: 94,341,846 (GRCm39) T130A probably benign Het
Or10j7 A G 1: 173,011,182 (GRCm39) I273T probably benign Het
Or4c3d A T 2: 89,882,569 (GRCm39) F33Y probably benign Het
Pacs2 G A 12: 113,026,987 (GRCm39) D605N probably damaging Het
Pcare A G 17: 72,056,279 (GRCm39) S1133P probably benign Het
Pdk3 G T X: 92,857,604 (GRCm39) N59K probably damaging Het
Pigq T C 17: 26,151,183 (GRCm39) H322R probably benign Het
Ppp3r1 G A 11: 17,143,115 (GRCm39) G68R probably damaging Het
Proz A G 8: 13,113,356 (GRCm39) Y59C probably damaging Het
Prpf39 C T 12: 65,090,786 (GRCm39) R32* probably null Het
Prr5 T C 15: 84,586,981 (GRCm39) S244P probably benign Het
Pth2r G T 1: 65,375,928 (GRCm39) W62L probably damaging Het
Scin T A 12: 40,118,930 (GRCm39) K622I probably damaging Het
Serpinb6a T C 13: 34,109,303 (GRCm39) K143R probably damaging Het
Ska1 G T 18: 74,330,137 (GRCm39) probably null Het
Slc30a8 G T 15: 52,169,960 (GRCm39) R62S probably benign Het
Slc8a3 A C 12: 81,361,994 (GRCm39) I275S probably damaging Het
Sp2 C T 11: 96,846,762 (GRCm39) C527Y probably damaging Het
Spmap2l A G 5: 77,207,252 (GRCm39) I337V possibly damaging Het
Sspo A G 6: 48,425,606 (GRCm39) I76V probably damaging Het
Sult1c2 G T 17: 54,138,848 (GRCm39) T243K probably benign Het
Svil T A 18: 5,046,640 (GRCm39) M1K probably null Het
Tet3 T C 6: 83,346,453 (GRCm39) D1328G probably damaging Het
Tnfsf14 T C 17: 57,500,876 (GRCm39) D65G probably benign Het
Trmt9b T A 8: 36,979,707 (GRCm39) C437S probably damaging Het
Ttc3 T C 16: 94,260,831 (GRCm39) S1439P probably benign Het
Ttn A T 2: 76,774,497 (GRCm39) F2136L probably damaging Het
Usb1 T G 8: 96,070,674 (GRCm39) L200R probably damaging Het
Usp20 A G 2: 30,908,750 (GRCm39) N777S probably benign Het
Zfp92 G T X: 72,466,358 (GRCm39) L450F possibly damaging Het
Other mutations in Adamtsl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00423:Adamtsl2 APN 2 26,975,100 (GRCm39) missense probably damaging 1.00
IGL01902:Adamtsl2 APN 2 26,977,264 (GRCm39) missense probably damaging 1.00
IGL02207:Adamtsl2 APN 2 26,992,993 (GRCm39) missense probably damaging 0.99
IGL02247:Adamtsl2 APN 2 26,974,905 (GRCm39) missense probably damaging 1.00
IGL02253:Adamtsl2 APN 2 26,988,709 (GRCm39) missense possibly damaging 0.48
IGL02655:Adamtsl2 APN 2 26,972,542 (GRCm39) splice site probably benign
IGL03148:Adamtsl2 APN 2 26,974,071 (GRCm39) missense probably damaging 0.99
IGL03269:Adamtsl2 APN 2 26,998,367 (GRCm39) nonsense probably null
R0609:Adamtsl2 UTSW 2 26,979,647 (GRCm39) missense probably benign 0.25
R1183:Adamtsl2 UTSW 2 26,974,092 (GRCm39) missense probably damaging 1.00
R1443:Adamtsl2 UTSW 2 26,993,078 (GRCm39) missense possibly damaging 0.89
R1675:Adamtsl2 UTSW 2 26,972,497 (GRCm39) frame shift probably null
R1698:Adamtsl2 UTSW 2 26,993,139 (GRCm39) missense possibly damaging 0.92
R1765:Adamtsl2 UTSW 2 26,992,842 (GRCm39) missense probably benign 0.01
R1934:Adamtsl2 UTSW 2 26,979,605 (GRCm39) missense probably damaging 0.99
R2106:Adamtsl2 UTSW 2 26,992,837 (GRCm39) missense probably benign 0.02
R2108:Adamtsl2 UTSW 2 26,985,570 (GRCm39) missense probably benign
R2189:Adamtsl2 UTSW 2 26,971,750 (GRCm39) missense probably benign 0.00
R4301:Adamtsl2 UTSW 2 26,977,295 (GRCm39) missense probably null 1.00
R4518:Adamtsl2 UTSW 2 26,985,559 (GRCm39) missense probably benign 0.00
R4572:Adamtsl2 UTSW 2 26,973,268 (GRCm39) missense probably damaging 0.99
R4627:Adamtsl2 UTSW 2 26,983,597 (GRCm39) missense probably damaging 0.99
R4668:Adamtsl2 UTSW 2 26,985,487 (GRCm39) missense probably benign 0.00
R4686:Adamtsl2 UTSW 2 26,983,837 (GRCm39) missense probably damaging 0.99
R4821:Adamtsl2 UTSW 2 26,988,604 (GRCm39) splice site probably null
R5054:Adamtsl2 UTSW 2 26,991,732 (GRCm39) missense probably damaging 1.00
R5460:Adamtsl2 UTSW 2 26,985,410 (GRCm39) splice site probably null
R5569:Adamtsl2 UTSW 2 26,992,845 (GRCm39) missense probably damaging 1.00
R5694:Adamtsl2 UTSW 2 26,971,736 (GRCm39) missense probably benign 0.03
R6836:Adamtsl2 UTSW 2 26,971,718 (GRCm39) start codon destroyed probably null 0.90
R7103:Adamtsl2 UTSW 2 26,997,473 (GRCm39) missense probably damaging 1.00
R7437:Adamtsl2 UTSW 2 26,979,721 (GRCm39) missense probably damaging 0.99
R8089:Adamtsl2 UTSW 2 26,994,809 (GRCm39) missense probably benign 0.00
R8389:Adamtsl2 UTSW 2 26,993,136 (GRCm39) missense possibly damaging 0.71
R9284:Adamtsl2 UTSW 2 26,994,055 (GRCm39) splice site probably benign
R9566:Adamtsl2 UTSW 2 26,979,773 (GRCm39) critical splice donor site probably null
R9772:Adamtsl2 UTSW 2 26,985,666 (GRCm39) missense probably benign
X0003:Adamtsl2 UTSW 2 26,971,785 (GRCm39) small deletion probably benign
X0003:Adamtsl2 UTSW 2 26,971,784 (GRCm39) small deletion probably benign
Z1176:Adamtsl2 UTSW 2 26,971,732 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-10-15