Incidental Mutation 'IGL03240:Has2'
ID414233
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 #IGL03240
Quality Score
Status
Chromosome15
Chromosomal Location56665627-56694539 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 56668260 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 353 (R353H)
Ref Sequence ENSEMBL: ENSMUSP00000062212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050544]
Predicted Effect probably damaging
Transcript: ENSMUST00000050544
AA Change: R353H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062212
Gene: ENSMUSG00000022367
AA Change: R353H

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T C 3: 124,556,716 probably benign Het
AA467197 A G 2: 122,639,262 T57A probably benign Het
Akap11 A T 14: 78,495,905 D1852E probably damaging Het
Arg2 T A 12: 79,131,831 probably null Het
Arhgef4 A G 1: 34,806,026 D1437G probably benign Het
AW551984 C A 9: 39,589,122 R780L probably benign Het
Baz1a T A 12: 54,927,567 K503* probably null Het
Cdk2ap1 A T 5: 124,346,144 H96Q probably damaging Het
Col11a1 T A 3: 114,217,210 probably null Het
Col12a1 A T 9: 79,678,383 probably null Het
Col22a1 G A 15: 71,807,928 P877S unknown Het
Col7a1 A T 9: 108,968,373 N1681Y probably null Het
Dennd1b T G 1: 139,139,392 S398A possibly damaging Het
Fam126b A G 1: 58,529,917 L501P probably damaging Het
Fam129b A C 2: 32,922,097 Y397S probably benign Het
Fgd2 C T 17: 29,361,161 probably benign Het
Hadh T C 3: 131,248,543 S98G probably benign Het
Heg1 T C 16: 33,727,413 S857P probably benign Het
Hemgn T A 4: 46,400,732 R43* probably null Het
Htr4 A T 18: 62,437,621 H249L possibly damaging Het
Iqgap3 T C 3: 88,114,974 S495P probably benign Het
Kars T C 8: 112,005,639 D99G probably benign Het
Krt40 T A 11: 99,537,568 S333C probably damaging Het
Lamc2 T C 1: 153,124,125 I1163V probably damaging Het
Lrrn2 A T 1: 132,938,327 I377F possibly damaging Het
Mcm5 T A 8: 75,115,902 I268N probably damaging Het
Mmp21 G T 7: 133,674,571 H514Q probably damaging Het
Mtcl1 G A 17: 66,338,019 P1478S probably damaging Het
Mybbp1a A G 11: 72,445,666 T495A possibly damaging Het
Myo10 T A 15: 25,701,602 V21E probably damaging Het
Nap1l4 A G 7: 143,538,245 S49P probably benign Het
Ncoa2 G A 1: 13,177,092 S369F probably damaging Het
Olfr1009 A T 2: 85,722,331 K309* probably null Het
Pon2 A G 6: 5,265,316 probably benign Het
Ppdpf T C 2: 181,187,880 S43P probably benign Het
Psmd6 A G 14: 14,112,393 probably benign Het
Ptprk G T 10: 28,492,961 R643L probably damaging Het
Ptprq T A 10: 107,688,507 Y455F probably benign Het
Sec23b G A 2: 144,566,759 probably benign Het
Sh3pxd2a A G 19: 47,268,026 L751P probably damaging Het
Snx6 T A 12: 54,783,443 H77L probably damaging Het
Svep1 C A 4: 58,048,188 C3472F possibly damaging Het
Trpd52l3 A T 19: 30,003,996 E50D probably damaging Het
Ttc33 A G 15: 5,217,328 D205G probably damaging Het
Tubgcp3 A T 8: 12,649,797 V352E probably benign Het
Tulp2 T G 7: 45,522,310 F436C probably damaging Het
Uhrf1bp1 C A 17: 27,893,253 N1167K probably benign Het
Vmn1r123 T A 7: 21,162,357 M58K possibly damaging Het
Vmn2r113 T C 17: 22,955,957 V514A probably benign Het
Vps13c T C 9: 67,955,047 V2982A probably benign Het
Ywhaq T C 12: 21,395,000 T215A possibly damaging Het
Zfp677 A T 17: 21,396,873 H64L probably 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
IGL03142:Has2 APN 15 56682095 missense possibly damaging 0.92
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