Incidental Mutation 'IGL03142:Has2'
ID410721
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Has2
Ensembl Gene ENSMUSG00000022367
Gene Namehyaluronan synthase 2
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03142
Quality Score
Status
Chromosome15
Chromosomal Location56665627-56694539 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 56682095 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 37 (I37N)
Ref Sequence ENSEMBL: ENSMUSP00000062212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050544]
Predicted Effect possibly damaging
Transcript: ENSMUST00000050544
AA Change: I37N

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000062212
Gene: ENSMUSG00000022367
AA Change: I37N

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
transmembrane domain 44 66 N/A INTRINSIC
Pfam:Glycos_transf_2 86 156 1.7e-7 PFAM
Pfam:Glyco_tranf_2_3 159 357 1.2e-17 PFAM
Pfam:Chitin_synth_2 193 464 1.9e-17 PFAM
Pfam:Glyco_trans_2_3 207 534 1.3e-9 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc88c T C 12: 100,947,198 S523G probably damaging Het
Ccnb1 A T 13: 100,783,531 D157E probably damaging Het
Cfap70 T C 14: 20,397,215 T1055A probably damaging Het
Fgfr1op T A 17: 8,192,209 S331R probably damaging Het
Fn1 C A 1: 71,637,296 R592L probably damaging Het
Frmpd4 T A X: 167,479,483 D550V possibly damaging Het
Gcm2 A G 13: 41,103,235 V346A probably benign Het
Gm10112 C T X: 111,168,350 T4I probably damaging Het
Gm3115 T C 14: 4,084,302 probably benign Het
Hmgn3 A G 9: 83,146,429 probably benign Het
Klhl29 T A 12: 5,137,603 N254Y probably damaging Het
Kti12 A G 4: 108,848,165 Y92C probably damaging Het
Mgat5 A C 1: 127,412,223 Q447P probably damaging Het
Mlh3 C A 12: 85,250,301 probably null Het
Mrpl45 T C 11: 97,315,925 W18R probably benign Het
Mtor A G 4: 148,453,899 D138G probably benign Het
Mycbp2 C T 14: 103,298,776 C246Y probably damaging Het
Mylk4 A T 13: 32,720,599 V415E probably damaging Het
Olfm3 A T 3: 115,097,030 Q124L probably damaging Het
Olfr1423 A T 19: 12,036,388 M118K probably damaging Het
Pam C T 1: 97,894,386 G298R probably damaging Het
Pappa2 A C 1: 158,854,931 I849R probably damaging Het
Pde3a T A 6: 141,492,299 D1031E probably benign Het
Pik3cb A T 9: 99,065,562 S521T probably benign Het
Pkn1 A G 8: 83,671,023 F824L possibly damaging Het
Pspn C T 17: 56,999,566 R121Q probably benign Het
Ric1 A G 19: 29,600,980 D1195G possibly damaging Het
Sin3b A G 8: 72,744,568 D381G probably damaging Het
Slc37a3 T C 6: 39,359,985 probably null Het
Smtn T A 11: 3,532,601 K124* probably null Het
Tbce A G 13: 14,019,864 V70A possibly damaging Het
Tmem251 G A 12: 102,744,674 S52N probably damaging Het
Tti1 A G 2: 158,000,677 Y811H probably damaging Het
Uggt2 T C 14: 118,998,191 Y1424C probably damaging Het
Upf1 A G 8: 70,333,327 V994A probably benign Het
Vmn2r121 T C X: 124,132,938 D174G possibly damaging Het
Other mutations in Has2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01631:Has2 APN 15 56681676 missense possibly damaging 0.51
IGL02027:Has2 APN 15 56668171 missense probably damaging 1.00
IGL02178:Has2 APN 15 56682060 missense probably damaging 1.00
IGL02493:Has2 APN 15 56667924 missense probably damaging 1.00
IGL02533:Has2 APN 15 56681695 missense probably benign 0.00
IGL03240:Has2 APN 15 56668260 missense probably damaging 1.00
R0189:Has2 UTSW 15 56668435 missense probably damaging 1.00
R0362:Has2 UTSW 15 56681661 missense probably damaging 1.00
R1377:Has2 UTSW 15 56681806 missense probably damaging 1.00
R1762:Has2 UTSW 15 56681610 missense probably benign 0.13
R1845:Has2 UTSW 15 56668578 missense probably damaging 1.00
R2012:Has2 UTSW 15 56667868 missense probably damaging 1.00
R2190:Has2 UTSW 15 56667787 missense probably benign 0.00
R2656:Has2 UTSW 15 56681828 missense possibly damaging 0.90
R2966:Has2 UTSW 15 56682137 missense probably damaging 1.00
R4361:Has2 UTSW 15 56681948 missense probably damaging 1.00
R5698:Has2 UTSW 15 56667916 missense probably damaging 1.00
R5826:Has2 UTSW 15 56668102 missense probably damaging 1.00
R5883:Has2 UTSW 15 56668063 missense possibly damaging 0.49
R5942:Has2 UTSW 15 56667796 nonsense probably null
R6433:Has2 UTSW 15 56667798 missense possibly damaging 0.79
R6560:Has2 UTSW 15 56668264 missense probably damaging 1.00
R6603:Has2 UTSW 15 56668572 missense probably damaging 1.00
R7094:Has2 UTSW 15 56681621 missense probably damaging 1.00
R7597:Has2 UTSW 15 56668421 missense probably damaging 1.00
R7738:Has2 UTSW 15 56667712 missense possibly damaging 0.89
R8060:Has2 UTSW 15 56669945 missense probably benign 0.00
Z1177:Has2 UTSW 15 56681583 missense probably benign 0.01
Posted On2016-08-02