Incidental Mutation 'R8118:Hs3st2'
ID 631336
Institutional Source Beutler Lab
Gene Symbol Hs3st2
Ensembl Gene ENSMUSG00000046321
Gene Name heparan sulfate (glucosamine) 3-O-sulfotransferase 2
Synonyms 6430516N12Rik, A830061E14Rik
MMRRC Submission 067547-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8118 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 120991082-121100993 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 120996651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 154 (T154I)
Ref Sequence ENSEMBL: ENSMUSP00000146027 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084628] [ENSMUST00000206880]
AlphaFold Q673U1
Predicted Effect probably benign
Transcript: ENSMUST00000084628
SMART Domains Protein: ENSMUSP00000081678
Gene: ENSMUSG00000046321

transmembrane domain 20 39 N/A INTRINSIC
Pfam:Sulfotransfer_3 47 295 2e-9 PFAM
Pfam:Sulfotransfer_1 114 362 3.1e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000206880
AA Change: T154I

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.5%
  • 10x: 98.2%
  • 20x: 91.1%
Validation Efficiency 97% (68/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It is a type II integral membrane protein and possesses heparan sulfate glucosaminyl 3-O-sulfotransferase activity. This gene is expressed predominantly in brain and may play a role in the nervous system. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted allele exhibit no abnormal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts1 T C 16: 85,592,821 (GRCm39) D792G probably damaging Het
Adcy7 A G 8: 89,042,384 (GRCm39) H417R probably damaging Het
Agr2 A G 12: 36,046,106 (GRCm39) D79G probably benign Het
Ankle1 T C 8: 71,860,279 (GRCm39) S286P probably benign Het
Arhgef11 T C 3: 87,643,164 (GRCm39) S1488P probably damaging Het
Atp6v0a2 T C 5: 124,789,837 (GRCm39) M421T probably damaging Het
Cdk17 C A 10: 93,052,252 (GRCm39) Q111K possibly damaging Het
Cimap2 T A 4: 106,470,595 (GRCm39) R192S possibly damaging Het
Cobl A G 11: 12,204,834 (GRCm39) S623P probably benign Het
Dgka C T 10: 128,558,318 (GRCm39) probably null Het
Dsc2 C T 18: 20,165,331 (GRCm39) G881R possibly damaging Het
Dsg2 A G 18: 20,715,858 (GRCm39) I267V probably benign Het
Exoc4 T C 6: 33,948,853 (GRCm39) Y899H probably damaging Het
Fat3 A G 9: 15,871,400 (GRCm39) F3664L probably benign Het
Fbxo47 C T 11: 97,770,341 (GRCm39) C17Y probably benign Het
Gm2888 G T 14: 3,037,628 (GRCm38) V207F probably benign Het
Gpr61 A G 3: 108,057,888 (GRCm39) S258P probably damaging Het
H2-T9 C T 17: 36,438,582 (GRCm39) V270M probably damaging Het
Hectd4 C T 5: 121,424,439 (GRCm39) H700Y probably benign Het
Inf2 A T 12: 112,567,871 (GRCm39) H167L probably damaging Het
Ints3 C T 3: 90,307,606 (GRCm39) probably null Het
Ippk C T 13: 49,599,818 (GRCm39) P226S Het
Itgal C A 7: 126,910,417 (GRCm39) Q509K probably benign Het
Klhl20 A T 1: 160,925,971 (GRCm39) probably null Het
Krtap4-13 C T 11: 99,700,224 (GRCm39) C145Y unknown Het
Large1 A G 8: 73,858,572 (GRCm39) S99P probably benign Het
Lrba A T 3: 86,261,533 (GRCm39) I1496L probably benign Het
Map2 A T 1: 66,464,550 (GRCm39) I1647F probably damaging Het
Map3k10 A G 7: 27,372,842 (GRCm39) V203A possibly damaging Het
Mcmdc2 T A 1: 9,986,599 (GRCm39) N166K possibly damaging Het
Mlxipl T G 5: 135,166,102 (GRCm39) L828R possibly damaging Het
Mnat1 A G 12: 73,265,864 (GRCm39) I253V probably benign Het
Mtfp1 A G 11: 4,043,910 (GRCm39) S107P probably damaging Het
Nebl T A 2: 17,384,631 (GRCm39) Y65F possibly damaging Het
Nelfb A T 2: 25,095,171 (GRCm39) D339E possibly damaging Het
Nlrc3 T A 16: 3,783,495 (GRCm39) I20L probably benign Het
Nup205 T A 6: 35,207,451 (GRCm39) M1501K probably benign Het
Or14a258 A T 7: 86,034,976 (GRCm39) C297* probably null Het
Or1ad8 A G 11: 50,898,327 (GRCm39) H176R probably damaging Het
Or2t6 A G 14: 14,175,863 (GRCm38) I73T probably damaging Het
Or4k15b T C 14: 50,272,608 (GRCm39) D84G probably benign Het
Or5b123 T A 19: 13,597,109 (GRCm39) N151K probably damaging Het
Or5g29 T A 2: 85,421,332 (GRCm39) Y149* probably null Het
Palm3 A G 8: 84,756,438 (GRCm39) E650G probably damaging Het
Prps1l1 C A 12: 35,035,340 (GRCm39) L152M probably damaging Het
Rgs7bp C A 13: 105,189,629 (GRCm39) V57F probably damaging Het
Scaf8 T A 17: 3,214,458 (GRCm39) V171D unknown Het
Sf3a2 T C 10: 80,639,474 (GRCm39) Y155H probably damaging Het
Sfrp1 T G 8: 23,902,000 (GRCm39) L67R probably damaging Het
Shank2 A T 7: 143,963,612 (GRCm39) I407L probably benign Het
Skint6 T C 4: 112,722,872 (GRCm39) T902A possibly damaging Het
Skint6 A C 4: 113,013,691 (GRCm39) S353R possibly damaging Het
Srrm2 T A 17: 24,027,057 (GRCm39) I87N unknown Het
Stard9 G A 2: 120,534,911 (GRCm39) G3723S probably benign Het
Svs3b A G 2: 164,097,926 (GRCm39) S132P probably damaging Het
Tbc1d17 G T 7: 44,492,426 (GRCm39) F412L probably benign Het
Tex29 A T 8: 11,904,263 (GRCm39) E116D unknown Het
Tmem204 T C 17: 25,299,312 (GRCm39) D69G possibly damaging Het
Ttll10 G A 4: 156,129,219 (GRCm39) R308C probably benign Het
Ttn T A 2: 76,577,508 (GRCm39) I24462F probably damaging Het
Tubg2 A G 11: 101,052,304 (GRCm39) E411G probably damaging Het
Ugt2b38 T C 5: 87,571,630 (GRCm39) N134S probably damaging Het
Usp31 T C 7: 121,276,485 (GRCm39) T351A probably damaging Het
Usp33 T C 3: 152,065,996 (GRCm39) L92S probably damaging Het
Vmn2r20 A T 6: 123,373,429 (GRCm39) I471N probably damaging Het
Wdfy4 G A 14: 32,826,072 (GRCm39) P1193L Het
Wnk2 A G 13: 49,244,459 (GRCm39) V459A probably damaging Het
Other mutations in Hs3st2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01904:Hs3st2 APN 7 121,100,207 (GRCm39) missense probably damaging 1.00
IGL03356:Hs3st2 APN 7 120,992,389 (GRCm39) missense probably damaging 1.00
R0469:Hs3st2 UTSW 7 121,099,792 (GRCm39) missense probably damaging 1.00
R0510:Hs3st2 UTSW 7 121,099,792 (GRCm39) missense probably damaging 1.00
R0849:Hs3st2 UTSW 7 121,100,255 (GRCm39) missense possibly damaging 0.89
R3001:Hs3st2 UTSW 7 121,099,910 (GRCm39) missense probably damaging 0.97
R3002:Hs3st2 UTSW 7 121,099,910 (GRCm39) missense probably damaging 0.97
R4056:Hs3st2 UTSW 7 121,099,925 (GRCm39) missense probably damaging 1.00
R4997:Hs3st2 UTSW 7 121,099,679 (GRCm39) missense possibly damaging 0.95
R5705:Hs3st2 UTSW 7 120,992,305 (GRCm39) missense probably damaging 1.00
R6016:Hs3st2 UTSW 7 121,099,922 (GRCm39) missense probably damaging 1.00
R6821:Hs3st2 UTSW 7 121,099,745 (GRCm39) missense possibly damaging 0.94
R7404:Hs3st2 UTSW 7 121,100,168 (GRCm39) missense possibly damaging 0.67
R8018:Hs3st2 UTSW 7 121,099,639 (GRCm39) critical splice acceptor site probably null
R8111:Hs3st2 UTSW 7 120,992,362 (GRCm39) missense probably damaging 1.00
R8949:Hs3st2 UTSW 7 121,100,017 (GRCm39) missense probably benign
R9447:Hs3st2 UTSW 7 120,992,289 (GRCm39) missense probably damaging 1.00
X0067:Hs3st2 UTSW 7 121,099,759 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2020-06-30