Incidental Mutation 'R0849:Hs3st2'
ID 77075
Institutional Source Beutler Lab
Gene Symbol Hs3st2
Ensembl Gene ENSMUSG00000046321
Gene Name heparan sulfate (glucosamine) 3-O-sulfotransferase 2
Synonyms 6430516N12Rik, A830061E14Rik
MMRRC Submission 039028-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0849 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 120991082-121100993 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121100255 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 367 (E367G)
Ref Sequence ENSEMBL: ENSMUSP00000081678 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084628]
AlphaFold Q673U1
Predicted Effect possibly damaging
Transcript: ENSMUST00000084628
AA Change: E367G

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000081678
Gene: ENSMUSG00000046321
AA Change: E367G

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: 99.3%
  • 3x: 98.5%
  • 10x: 96.5%
  • 20x: 92.5%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap5 T C 12: 52,566,406 (GRCm39) F1126L probably benign Het
Arhgef11 G T 3: 87,643,203 (GRCm39) A1472S probably benign Het
Armc9 G A 1: 86,184,992 (GRCm39) R681K probably benign Het
Atxn2 T A 5: 121,885,484 (GRCm39) probably null Het
B3gnt6 C A 7: 97,843,950 (GRCm39) L3F probably benign Het
Cand2 A G 6: 115,769,352 (GRCm39) T721A probably damaging Het
Cntn2 A T 1: 132,450,124 (GRCm39) M590K probably benign Het
Cntn4 A T 6: 106,644,418 (GRCm39) D622V probably damaging Het
Des T G 1: 75,337,272 (GRCm39) S71A probably benign Het
Dnah5 C A 15: 28,263,745 (GRCm39) R827S probably damaging Het
Dstn G A 2: 143,780,455 (GRCm39) G52S probably benign Het
Eln T A 5: 134,736,835 (GRCm39) R704* probably null Het
Fezf2 T A 14: 12,342,607 (GRCm38) K419N probably damaging Het
Gm2381 G A 7: 42,469,372 (GRCm39) Q251* probably null Het
Grin3a G A 4: 49,665,501 (GRCm39) R1045* probably null Het
Herc2 T A 7: 55,856,326 (GRCm39) H3921Q probably damaging Het
Hydin G A 8: 111,325,616 (GRCm39) R4675H probably damaging Het
Inhca A C 9: 103,140,256 (GRCm39) Y488D possibly damaging Het
Irf2bp1 T C 7: 18,738,659 (GRCm39) S100P possibly damaging Het
Itga10 A G 3: 96,559,846 (GRCm39) I500M possibly damaging Het
Kcnt2 T C 1: 140,435,500 (GRCm39) V496A probably damaging Het
Mansc1 T C 6: 134,587,670 (GRCm39) D169G probably benign Het
Mdn1 T A 4: 32,741,835 (GRCm39) S3869T probably damaging Het
Mrgprb4 G A 7: 47,848,868 (GRCm39) T20I probably benign Het
Nek4 A G 14: 30,679,253 (GRCm39) E198G probably damaging Het
Or12e8 G T 2: 87,188,609 (GRCm39) V274L probably benign Het
Or2y10 G A 11: 49,455,129 (GRCm39) C127Y probably damaging Het
Or5w11 C A 2: 87,459,626 (GRCm39) T273K possibly damaging Het
Ppfia4 A T 1: 134,247,110 (GRCm39) F537I probably benign Het
Rarb A G 14: 16,434,293 (GRCm38) V295A probably damaging Het
Ryr1 A G 7: 28,740,104 (GRCm39) S3941P probably damaging Het
Scnn1b A G 7: 121,511,698 (GRCm39) N370S probably damaging Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Sv2c C T 13: 96,126,319 (GRCm39) G311D probably damaging Het
Tas2r109 T C 6: 132,957,856 (GRCm39) I25V probably benign Het
Tbcel A C 9: 42,348,453 (GRCm39) I305S probably damaging Het
Tmem35b A G 4: 127,019,990 (GRCm39) probably null Het
Tmem38b T C 4: 53,840,765 (GRCm39) L60S probably damaging Het
Tmtc4 A G 14: 123,182,966 (GRCm39) I244T possibly damaging Het
Usp9y C A Y: 1,394,002 (GRCm39) C576F probably damaging Het
Vcan A T 13: 89,853,072 (GRCm39) N629K possibly damaging Het
Vmn2r22 T C 6: 123,614,363 (GRCm39) Y409C probably damaging Het
Vmn2r-ps158 A G 7: 42,674,142 (GRCm39) Y400C 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
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
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'- ACGCAGACTCTTTCCAAGAAGCCG -3'
(R):5'- TGTGCCAGAAGCAGACAGAATTTCC -3'

Sequencing Primer
(F):5'- TCCTGGGCATCAAGAGATTC -3'
(R):5'- AGCAGACAGAATTTCCTGGAC -3'
Posted On 2013-10-16