|Institutional Source||Beutler Lab|
|Gene Name||hyaluronan synthase 2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R1845 (G1)|
|Chromosomal Location||56665627-56694539 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 56668578 bp|
|Amino Acid Change||Lysine to Arginine at position 247 (K247R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000062212 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000050544]|
|Predicted Effect||probably damaging
AA Change: K247R
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: K247R
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Hyaluronan or hyaluronic acid (HA) is a high molecular weight unbranched polysaccharide synthesized by a wide variety of organisms from bacteria to mammals, and is a constituent of the extracellular matrix. It consists of alternating glucuronic acid and N-acetylglucosamine residues that are linked by beta-1-3 and beta-1-4 glycosidic bonds. HA is synthesized by membrane-bound synthase at the inner surface of the plasma membrane, and the chains are extruded through pore-like structures into the extracellular space. It serves a variety of functions, including space filling, lubrication of joints, and provision of a matrix through which cells can migrate. HA is actively produced during wound healing and tissue repair to provide a framework for ingrowth of blood vessels and fibroblasts. Changes in the serum concentration of HA are associated with inflammatory and degenerative arthropathies such as rheumatoid arthritis. In addition, the interaction of HA with the leukocyte receptor CD44 is important in tissue-specific homing by leukocytes, and overexpression of HA receptors has been correlated with tumor metastasis. HAS2 is a member of the newly identified vertebrate gene family encoding putative hyaluronan synthases, and its amino acid sequence shows significant homology to glycosaminoglycan synthetase (DG42) from Xenopus laevis, and human and murine hyaluronan synthase 1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation die during midgestation with severe defects in yolk sac and systemic vasculature, including pericardial edema, compaction of the extracellular space, and absence of endocardial cushions and trabeculae. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Has2||
(F):5'- GCCTGTCGTCACCAAAACTG -3'
(R):5'- GGACGAGCCCAGATAATATCAC -3'
(F):5'- TGTCGTCACCAAAACTGCATTG -3'
(R):5'- GCCCAGATAATATCACAAGAAGATG -3'