Incidental Mutation 'R3413:Hs6st2'
ID 267830
Institutional Source Beutler Lab
Gene Symbol Hs6st2
Ensembl Gene ENSMUSG00000062184
Gene Name heparan sulfate 6-O-sulfotransferase 2
Synonyms 6OST2
MMRRC Submission 040631-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3413 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 50476089-50770733 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 50770332 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 50 (V50I)
Ref Sequence ENSEMBL: ENSMUSP00000110521 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088172] [ENSMUST00000114871]
AlphaFold Q80UW0
Predicted Effect possibly damaging
Transcript: ENSMUST00000088172
AA Change: V50I

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000085497
Gene: ENSMUSG00000062184
AA Change: V50I

DomainStartEndE-ValueType
low complexity region 78 107 N/A INTRINSIC
transmembrane domain 154 173 N/A INTRINSIC
Pfam:Sulfotransfer_2 219 531 1.1e-77 PFAM
low complexity region 571 604 N/A INTRINSIC
low complexity region 622 640 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000114871
AA Change: V50I

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000110521
Gene: ENSMUSG00000062184
AA Change: V50I

DomainStartEndE-ValueType
low complexity region 78 107 N/A INTRINSIC
transmembrane domain 154 173 N/A INTRINSIC
Pfam:Sulfotransfer_2 219 491 1.3e-78 PFAM
low complexity region 531 564 N/A INTRINSIC
low complexity region 582 600 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140145
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142738
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142983
Meta Mutation Damage Score 0.0964 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency 98% (48/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Heparan sulfate proteoglycans are ubiquitous components of the cell surface, extracellular matrix, and basement membranes, and interact with various ligands to influence cell growth, differentiation, adhesion, and migration. This gene encodes a member of the heparan sulfate (HS) sulfotransferase gene family, which catalyze the transfer of sulfate to HS. Different family members and isoforms are thought to synthesize heparan sulfates with tissue-specific structures and functions. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Female homozygous or male hemizygous mice for a disruption in this gene display a normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd13 T C 8: 10,037,387 (GRCm39) probably benign Het
Ap2a2 T A 7: 141,178,689 (GRCm39) N105K probably benign Het
Axin1 A G 17: 26,407,012 (GRCm39) H535R probably damaging Het
Ccnb3 T A X: 6,874,040 (GRCm39) E846D probably benign Het
Cdca7 G A 2: 72,315,631 (GRCm39) G365R probably damaging Het
Clvs2 T A 10: 33,498,967 (GRCm39) probably benign Het
Coq10a A G 10: 128,200,998 (GRCm39) V93A possibly damaging Het
Ddx42 A G 11: 106,138,636 (GRCm39) T812A probably benign Het
Dnaaf6 T A X: 139,006,770 (GRCm39) N216K possibly damaging Het
Eya1 T A 1: 14,344,433 (GRCm39) probably null Het
Fcna G C 2: 25,517,505 (GRCm39) P49A probably damaging Het
Gckr T A 5: 31,458,211 (GRCm39) probably null Het
Golgb1 A G 16: 36,707,709 (GRCm39) K68E probably damaging Het
Got1l1 A G 8: 27,689,864 (GRCm39) probably null Het
Hip1 T C 5: 135,451,026 (GRCm39) E451G probably damaging Het
Ighv1-23 C T 12: 114,728,087 (GRCm39) V112I probably benign Het
Map1s A G 8: 71,365,163 (GRCm39) N107D probably damaging Het
Mmel1 T A 4: 154,974,043 (GRCm39) V361D probably damaging Het
Myh15 A G 16: 48,959,095 (GRCm39) D989G probably benign Het
Myo1g G T 11: 6,467,870 (GRCm39) H188Q possibly damaging Het
Nup210 G T 6: 91,002,224 (GRCm39) Q755K probably benign Het
Or14j3 A G 17: 37,900,587 (GRCm39) V219A probably benign Het
Or51q1c A G 7: 103,653,039 (GRCm39) M186V probably damaging Het
Plcz1 C T 6: 139,947,807 (GRCm39) R525Q probably damaging Het
Ppef2 T G 5: 92,376,581 (GRCm39) S649R probably damaging Het
Rusc2 T G 4: 43,415,935 (GRCm39) S414A probably damaging Het
Sez6l A G 5: 112,623,227 (GRCm39) L108P possibly damaging Het
Slc1a7 A G 4: 107,868,191 (GRCm39) E497G probably benign Het
Spag8 T A 4: 43,651,606 (GRCm39) S423C probably damaging Het
Sspo C T 6: 48,457,631 (GRCm39) R3178C probably damaging Het
St6galnac1 A G 11: 116,656,682 (GRCm39) W486R probably damaging Het
Syk A G 13: 52,785,775 (GRCm39) D327G probably benign Het
Tbc1d8b C T X: 138,614,140 (GRCm39) A391V probably benign Het
Tmed9 A G 13: 55,743,387 (GRCm39) E173G probably benign Het
Top1mt T C 15: 75,529,025 (GRCm39) N573S probably benign Het
Tusc1 C A 4: 93,223,173 (GRCm39) R162L probably damaging Het
Ubn2 A G 6: 38,475,674 (GRCm39) T1211A probably benign Het
Unc80 G A 1: 66,678,464 (GRCm39) V2082I probably benign Het
Vmn2r63 A G 7: 42,576,406 (GRCm39) F469S probably benign Het
Zfp92 C T X: 72,463,900 (GRCm39) probably benign Het
Zfyve28 C T 5: 34,357,028 (GRCm39) M723I probably benign Het
Zmynd8 A T 2: 165,657,371 (GRCm39) M533K probably damaging Het
Other mutations in Hs6st2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02436:Hs6st2 APN X 50,768,891 (GRCm39) missense possibly damaging 0.59
X0057:Hs6st2 UTSW X 50,769,187 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGAAGATCGCACTGAGCACG -3'
(R):5'- TAGTACCCTGAGTTGCCTGAAG -3'

Sequencing Primer
(F):5'- CACGTGCTTGAGCGAGTG -3'
(R):5'- AATGGCACTGCCTGCGTTT -3'
Posted On 2015-02-18