|Institutional Source||Beutler Lab|
|Gene Name||ADAMTS-like 2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7437 (G1)|
|Chromosomal Location||27079379-27108981 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 27089709 bp (GRCm38)|
|Amino Acid Change||Isoleucine to Valine at position 297 (I297V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000088774 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000091233]|
AA Change: I297V
PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
AA Change: I297V
|Coding Region Coverage||
|Validation Efficiency||98% (54/55)|
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||
|Other mutations in Adamtsl2||
(F):5'- TGGAGCCTGTATGCTGACTC -3'
(R):5'- TGATCACAGAATGGGATGGC -3'
(F):5'- TGTATGCTGACTCCTCCCTG -3'
(R):5'- CAACAGTTCTGAATGGATGGATG -3'