Incidental Mutation 'IGL01631:Has2'
ID93444
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 #IGL01631
Quality Score
Status
Chromosome15
Chromosomal Location56665627-56694539 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 56681676 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 177 (S177P)
Ref Sequence ENSEMBL: ENSMUSP00000062212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050544]
Predicted Effect possibly damaging
Transcript: ENSMUST00000050544
AA Change: S177P

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000062212
Gene: ENSMUSG00000022367
AA Change: S177P

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik T C 1: 26,685,414 I228M probably damaging Het
Apip C A 2: 103,073,849 probably benign Het
Arid4a C T 12: 71,022,262 probably benign Het
Brwd1 C A 16: 96,046,466 E98D probably damaging Het
Cactin A G 10: 81,323,224 E303G probably benign Het
Ccdc181 T A 1: 164,280,144 I132K possibly damaging Het
Celsr3 A G 9: 108,837,404 H1995R probably benign Het
Cog4 A G 8: 110,881,840 E756G probably damaging Het
Ctsf T C 19: 4,858,078 L217P probably damaging Het
Dmp1 G T 5: 104,212,868 R470L probably benign Het
Dnajc9 T C 14: 20,388,108 D142G probably benign Het
Ednrb T A 14: 103,843,225 R84S probably benign Het
Gm1110 A T 9: 26,897,916 probably null Het
Gm13119 A G 4: 144,362,445 H111R probably benign Het
Herc6 C T 6: 57,604,107 S264F probably benign Het
Il1rl2 T A 1: 40,356,814 probably null Het
Ltbp2 A G 12: 84,809,146 probably null Het
Map4 A G 9: 110,063,133 probably benign Het
March4 T A 1: 72,452,531 K194* probably null Het
Megf10 A G 18: 57,259,797 D422G possibly damaging Het
Mfsd2a C A 4: 122,949,307 A394S probably benign Het
Mmp27 T C 9: 7,573,288 probably benign Het
Mvd A G 8: 122,434,821 Y370H possibly damaging Het
Olfr1254 T C 2: 89,788,785 D189G probably damaging Het
Olfr922 T A 9: 38,816,039 C179S probably damaging Het
Ptk2 G A 15: 73,216,371 H859Y probably damaging Het
Ptprq T A 10: 107,643,538 E1209D probably benign Het
Rhot1 C T 11: 80,265,774 T636M probably damaging Het
Ripk2 C A 4: 16,163,342 A19S possibly damaging Het
Rsbn1l G A 5: 20,896,571 S657L probably damaging Het
Rsbn1l A T 5: 20,896,572 S657T probably damaging Het
Sema6c A G 3: 95,170,403 T450A probably benign Het
Slc25a1 C T 16: 17,926,066 C262Y probably damaging Het
Slfn3 T C 11: 83,213,535 S288P probably damaging Het
Snrnp200 T A 2: 127,238,824 probably benign Het
Ssu2 T C 6: 112,374,882 Y294C probably damaging Het
Terb1 A G 8: 104,472,864 S483P probably damaging Het
Tsga13 T C 6: 30,913,566 K8E possibly damaging Het
Zbbx T G 3: 75,078,677 D351A probably damaging Het
Zfp454 G T 11: 50,883,735 A37D probably benign Het
Other mutations in Has2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 On2013-12-09