Incidental Mutation 'R6016:Hs3st2'
ID 478604
Institutional Source Beutler Lab
Gene Symbol Hs3st2
Ensembl Gene ENSMUSG00000046321
Gene Name heparan sulfate (glucosamine) 3-O-sulfotransferase 2
Synonyms 6430516N12Rik, A830061E14Rik
MMRRC Submission 043255-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6016 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 120991082-121100993 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121099922 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 256 (H256R)
Ref Sequence ENSEMBL: ENSMUSP00000081678 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084628]
AlphaFold Q673U1
Predicted Effect probably damaging
Transcript: ENSMUST00000084628
AA Change: H256R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081678
Gene: ENSMUSG00000046321
AA Change: H256R

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000205739
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.0%
  • 20x: 90.5%
Validation Efficiency
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol9b T C 15: 77,620,058 (GRCm39) S285P probably damaging Het
Casz1 C A 4: 149,019,041 (GRCm39) N447K probably damaging Het
Cltb T C 13: 54,754,480 (GRCm39) T71A possibly damaging Het
Dcaf12 A G 4: 41,313,267 (GRCm39) F93L probably damaging Het
Dnah5 T C 15: 28,328,030 (GRCm39) Y2135H probably damaging Het
Entpd2 C T 2: 25,288,568 (GRCm39) R191W probably damaging Het
Gm17067 G T 7: 42,357,654 (GRCm39) P283T probably benign Het
Gm3250 A G 10: 77,618,367 (GRCm39) probably benign Het
Gne T C 4: 44,039,063 (GRCm39) E532G probably damaging Het
Gsdmc3 T G 15: 63,740,261 (GRCm39) D86A probably benign Het
Il19 T A 1: 130,863,718 (GRCm39) D16V probably damaging Het
Lats2 A T 14: 57,971,632 (GRCm39) N14K probably damaging Het
Mill2 G T 7: 18,590,373 (GRCm39) S151I probably benign Het
Ncapg2 G A 12: 116,390,227 (GRCm39) R392H probably damaging Het
Nop56 T C 2: 130,118,545 (GRCm39) probably null Het
Or14j8 A T 17: 38,262,967 (GRCm39) V316D probably benign Het
Or2bd2 A T 7: 6,443,613 (GRCm39) H238L probably benign Het
Or5p5 A T 7: 107,414,219 (GRCm39) I143F probably benign Het
Pde1a T C 2: 79,695,406 (GRCm39) R446G probably benign Het
Pes1 T A 11: 3,928,004 (GRCm39) M552K possibly damaging Het
Plxnb2 T A 15: 89,045,225 (GRCm39) T1074S possibly damaging Het
Psg23 G T 7: 18,346,112 (GRCm39) H194Q probably benign Het
Rprd2 A G 3: 95,694,685 (GRCm39) V116A probably damaging Het
Shkbp1 A G 7: 27,053,826 (GRCm39) V124A possibly damaging Het
Slc38a8 A T 8: 120,221,044 (GRCm39) probably null Het
Slitrk6 A G 14: 110,987,958 (GRCm39) V583A probably benign Het
Sptbn5 G T 2: 119,880,573 (GRCm39) noncoding transcript Het
Stab1 A T 14: 30,880,950 (GRCm39) I614N probably damaging Het
Tgm6 A G 2: 129,983,148 (GRCm39) T246A probably damaging Het
Tnks1bp1 T C 2: 84,882,734 (GRCm39) L187P probably damaging Het
Vmn1r157 A G 7: 22,461,272 (GRCm39) R51G possibly damaging Het
Vmn2r68 A T 7: 84,871,453 (GRCm39) I610K 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
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
R8118:Hs3st2 UTSW 7 120,996,651 (GRCm39) missense probably benign 0.07
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
(F):5'- ACCAAGCTGATAGTGGTGGTG -3'
(R):5'- CGATCTGTACATGAGTTCTCCC -3'

Sequencing Primer
(F):5'- TGCGGAACCCAGTGACC -3'
(R):5'- AGGCAGGAGGGTTGACTCTG -3'
Posted On 2017-06-26