Incidental Mutation 'IGL03142:Has2'
ID 410721
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Has2
Ensembl Gene ENSMUSG00000022367
Gene Name hyaluronan synthase 2
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03142
Quality Score
Status
Chromosome 15
Chromosomal Location 56529023-56557935 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 56545491 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 37 (I37N)
Ref Sequence ENSEMBL: ENSMUSP00000062212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050544]
AlphaFold P70312
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: 100,913,457 (GRCm39) S523G probably damaging Het
Ccnb1 A T 13: 100,920,039 (GRCm39) D157E probably damaging Het
Cep43 T A 17: 8,411,041 (GRCm39) S331R probably damaging Het
Cfap70 T C 14: 20,447,283 (GRCm39) T1055A probably damaging Het
Fn1 C A 1: 71,676,455 (GRCm39) R592L probably damaging Het
Frmpd4 T A X: 166,262,479 (GRCm39) D550V possibly damaging Het
Gcm2 A G 13: 41,256,711 (GRCm39) V346A probably benign Het
Gm10112 C T X: 110,209,673 (GRCm39) T4I probably damaging Het
Gm3115 T C 14: 4,084,302 (GRCm38) probably benign Het
Hmgn3 A G 9: 83,028,482 (GRCm39) probably benign Het
Klhl29 T A 12: 5,187,603 (GRCm39) N254Y probably damaging Het
Kti12 A G 4: 108,705,362 (GRCm39) Y92C probably damaging Het
Lyset G A 12: 102,710,933 (GRCm39) S52N probably damaging Het
Mgat5 A C 1: 127,339,960 (GRCm39) Q447P probably damaging Het
Mlh3 C A 12: 85,297,075 (GRCm39) probably null Het
Mrpl45 T C 11: 97,206,751 (GRCm39) W18R probably benign Het
Mtor A G 4: 148,538,356 (GRCm39) D138G probably benign Het
Mycbp2 C T 14: 103,536,212 (GRCm39) C246Y probably damaging Het
Mylk4 A T 13: 32,904,582 (GRCm39) V415E probably damaging Het
Olfm3 A T 3: 114,890,679 (GRCm39) Q124L probably damaging Het
Or4d11 A T 19: 12,013,752 (GRCm39) M118K probably damaging Het
Pam C T 1: 97,822,111 (GRCm39) G298R probably damaging Het
Pappa2 A C 1: 158,682,501 (GRCm39) I849R probably damaging Het
Pde3a T A 6: 141,438,025 (GRCm39) D1031E probably benign Het
Pik3cb A T 9: 98,947,615 (GRCm39) S521T probably benign Het
Pkn1 A G 8: 84,397,652 (GRCm39) F824L possibly damaging Het
Pspn C T 17: 57,306,566 (GRCm39) R121Q probably benign Het
Ric1 A G 19: 29,578,380 (GRCm39) D1195G possibly damaging Het
Sin3b A G 8: 73,471,196 (GRCm39) D381G probably damaging Het
Slc37a3 T C 6: 39,336,919 (GRCm39) probably null Het
Smtn T A 11: 3,482,601 (GRCm39) K124* probably null Het
Tbce A G 13: 14,194,449 (GRCm39) V70A possibly damaging Het
Tti1 A G 2: 157,842,597 (GRCm39) Y811H probably damaging Het
Uggt2 T C 14: 119,235,603 (GRCm39) Y1424C probably damaging Het
Upf1 A G 8: 70,785,977 (GRCm39) V994A probably benign Het
Vmn2r121 T C X: 123,042,635 (GRCm39) D174G possibly damaging Het
Other mutations in Has2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01631:Has2 APN 15 56,545,072 (GRCm39) missense possibly damaging 0.51
IGL02027:Has2 APN 15 56,531,567 (GRCm39) missense probably damaging 1.00
IGL02178:Has2 APN 15 56,545,456 (GRCm39) missense probably damaging 1.00
IGL02493:Has2 APN 15 56,531,320 (GRCm39) missense probably damaging 1.00
IGL02533:Has2 APN 15 56,545,091 (GRCm39) missense probably benign 0.00
IGL03240:Has2 APN 15 56,531,656 (GRCm39) missense probably damaging 1.00
R0189:Has2 UTSW 15 56,531,831 (GRCm39) missense probably damaging 1.00
R0362:Has2 UTSW 15 56,545,057 (GRCm39) missense probably damaging 1.00
R1377:Has2 UTSW 15 56,545,202 (GRCm39) missense probably damaging 1.00
R1762:Has2 UTSW 15 56,545,006 (GRCm39) missense probably benign 0.13
R1845:Has2 UTSW 15 56,531,974 (GRCm39) missense probably damaging 1.00
R2012:Has2 UTSW 15 56,531,264 (GRCm39) missense probably damaging 1.00
R2190:Has2 UTSW 15 56,531,183 (GRCm39) missense probably benign 0.00
R2656:Has2 UTSW 15 56,545,224 (GRCm39) missense possibly damaging 0.90
R2966:Has2 UTSW 15 56,545,533 (GRCm39) missense probably damaging 1.00
R4361:Has2 UTSW 15 56,545,344 (GRCm39) missense probably damaging 1.00
R5698:Has2 UTSW 15 56,531,312 (GRCm39) missense probably damaging 1.00
R5826:Has2 UTSW 15 56,531,498 (GRCm39) missense probably damaging 1.00
R5883:Has2 UTSW 15 56,531,459 (GRCm39) missense possibly damaging 0.49
R5942:Has2 UTSW 15 56,531,192 (GRCm39) nonsense probably null
R6433:Has2 UTSW 15 56,531,194 (GRCm39) missense possibly damaging 0.79
R6560:Has2 UTSW 15 56,531,660 (GRCm39) missense probably damaging 1.00
R6603:Has2 UTSW 15 56,531,968 (GRCm39) missense probably damaging 1.00
R7094:Has2 UTSW 15 56,545,017 (GRCm39) missense probably damaging 1.00
R7597:Has2 UTSW 15 56,531,817 (GRCm39) missense probably damaging 1.00
R7738:Has2 UTSW 15 56,531,108 (GRCm39) missense possibly damaging 0.89
R8060:Has2 UTSW 15 56,533,341 (GRCm39) missense probably benign 0.00
R8145:Has2 UTSW 15 56,545,175 (GRCm39) missense probably benign
R8915:Has2 UTSW 15 56,531,885 (GRCm39) missense probably damaging 1.00
R8964:Has2 UTSW 15 56,531,061 (GRCm39) missense probably damaging 0.96
R9144:Has2 UTSW 15 56,545,588 (GRCm39) missense probably benign 0.03
R9411:Has2 UTSW 15 56,531,306 (GRCm39) missense possibly damaging 0.62
R9416:Has2 UTSW 15 56,531,684 (GRCm39) missense probably damaging 1.00
R9551:Has2 UTSW 15 56,531,090 (GRCm39) missense probably benign 0.00
R9552:Has2 UTSW 15 56,531,090 (GRCm39) missense probably benign 0.00
Z1177:Has2 UTSW 15 56,544,979 (GRCm39) missense probably benign 0.01
Posted On 2016-08-02