Incidental Mutation 'R2190:Has2'
ID 238056
Institutional Source Beutler Lab
Gene Symbol Has2
Ensembl Gene ENSMUSG00000022367
Gene Name hyaluronan synthase 2
Synonyms
MMRRC Submission 040192-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2190 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 56529023-56557935 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 56531183 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 511 (V511F)
Ref Sequence ENSEMBL: ENSMUSP00000062212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050544]
AlphaFold P70312
Predicted Effect probably benign
Transcript: ENSMUST00000050544
AA Change: V511F

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000062212
Gene: ENSMUSG00000022367
AA Change: V511F

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.2%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 A T 8: 111,766,785 (GRCm39) T56S probably damaging Het
Acbd6 A T 1: 155,500,652 (GRCm39) H204L probably damaging Het
Acnat2 T A 4: 49,383,551 (GRCm39) M1L probably benign Het
Adgrg5 A T 8: 95,660,579 (GRCm39) I73F probably damaging Het
Ankrd52 A G 10: 128,219,487 (GRCm39) T474A probably benign Het
Arid3a A G 10: 79,782,365 (GRCm39) D252G possibly damaging Het
Aspg G T 12: 112,091,322 (GRCm39) E501D probably damaging Het
Bicral A G 17: 47,136,049 (GRCm39) I387T probably damaging Het
Bub1 T C 2: 127,652,645 (GRCm39) N574S probably benign Het
Casr G A 16: 36,315,778 (GRCm39) T764M probably damaging Het
Ccdc60 A G 5: 116,295,639 (GRCm39) S259P probably damaging Het
Ccne2 A T 4: 11,197,241 (GRCm39) N181I probably benign Het
Chd4 A G 6: 125,091,260 (GRCm39) D89G probably benign Het
Col25a1 C T 3: 130,378,364 (GRCm39) P606S probably damaging Het
Dcc A G 18: 71,680,491 (GRCm39) S582P possibly damaging Het
Dlg4 A G 11: 69,933,430 (GRCm39) D619G probably damaging Het
Elavl2 C T 4: 91,152,331 (GRCm39) V129I probably benign Het
Epha3 A G 16: 63,366,552 (GRCm39) I965T probably benign Het
Fbxw16 G A 9: 109,265,739 (GRCm39) S360L probably damaging Het
Fgf14 T C 14: 124,221,330 (GRCm39) Y158C probably damaging Het
Gm44511 A G 6: 128,803,163 (GRCm39) I16T possibly damaging Het
Heatr5b G A 17: 79,109,185 (GRCm39) R1025C probably damaging Het
Hsd17b12 T C 2: 93,864,408 (GRCm39) Y233C probably benign Het
Il36rn A T 2: 24,170,831 (GRCm39) I43F probably damaging Het
Inpp5b T A 4: 124,678,988 (GRCm39) I465N probably damaging Het
Irak2 T A 6: 113,663,904 (GRCm39) N423K probably damaging Het
Itga2 C A 13: 115,007,141 (GRCm39) V396L probably benign Het
Itprid1 A G 6: 55,874,685 (GRCm39) T212A possibly damaging Het
Lipo2 A T 19: 33,725,969 (GRCm39) N94K probably damaging Het
Lrrc37a T C 11: 103,390,869 (GRCm39) T1519A possibly damaging Het
Macf1 A G 4: 123,353,005 (GRCm39) V1558A probably benign Het
Mocos C A 18: 24,797,114 (GRCm39) H91Q probably benign Het
Myh14 G A 7: 44,310,487 (GRCm39) T132I probably damaging Het
Nlrp2 A T 7: 5,322,237 (GRCm39) D803E possibly damaging Het
Ntsr2 T A 12: 16,704,018 (GRCm39) I173N probably damaging Het
Or14c43 A G 7: 86,115,573 (GRCm39) Y318C possibly damaging Het
Or5b105 T G 19: 13,079,857 (GRCm39) K270N probably damaging Het
Pitx3 T C 19: 46,125,486 (GRCm39) Y86C probably damaging Het
Pkp1 T C 1: 135,807,709 (GRCm39) S520G probably benign Het
Pygo1 C T 9: 72,852,529 (GRCm39) Q239* probably null Het
Rab13 A G 3: 90,130,851 (GRCm39) E68G probably damaging Het
Rfx7 A G 9: 72,525,201 (GRCm39) E797G probably benign Het
Slc5a1 T C 5: 33,261,937 (GRCm39) probably null Het
Slco1c1 A G 6: 141,508,893 (GRCm39) T518A probably benign Het
Spint1 A G 2: 119,068,661 (GRCm39) I132V probably benign Het
Stard9 T A 2: 120,544,601 (GRCm39) I4514N probably benign Het
Tenm3 T G 8: 48,848,579 (GRCm39) S87R probably damaging Het
Thap4 G T 1: 93,678,381 (GRCm39) P135Q probably damaging Het
Tmed9 A G 13: 55,741,156 (GRCm39) E57G probably benign Het
Tnrc18 C T 5: 142,761,644 (GRCm39) V594I unknown Het
Trmt1 A T 8: 85,416,470 (GRCm39) K64* probably null Het
Usf2 A G 7: 30,654,606 (GRCm39) V198A probably damaging Het
Usp14 A T 18: 10,007,835 (GRCm39) C168S probably damaging Het
Vav3 C A 3: 109,470,130 (GRCm39) T525K probably damaging Het
Vmn1r52 A G 6: 90,156,151 (GRCm39) I152V probably benign Het
Vmn2r81 A G 10: 79,104,085 (GRCm39) D236G possibly damaging Het
Wdr19 G A 5: 65,401,509 (GRCm39) V975I 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
IGL03142:Has2 APN 15 56,545,491 (GRCm39) missense possibly damaging 0.92
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
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
Predicted Primers PCR Primer
(F):5'- CGGTGCCACAATACTGTATAGC -3'
(R):5'- GCCAAGATGTTTGCAATTGC -3'

Sequencing Primer
(F):5'- ATACTGTATAGCCCCTTGAGGAGC -3'
(R):5'- TTGCAACCATAAACAAAGCTGGGTG -3'
Posted On 2014-10-02