Incidental Mutation 'R4056:Hs3st2'
ID 314247
Institutional Source Beutler Lab
Gene Symbol Hs3st2
Ensembl Gene ENSMUSG00000046321
Gene Name heparan sulfate (glucosamine) 3-O-sulfotransferase 2
Synonyms 6430516N12Rik, A830061E14Rik
MMRRC Submission 041617-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4056 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 120991082-121100993 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 121099925 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 257 (L257Q)
Ref Sequence ENSEMBL: ENSMUSP00000081678 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084628]
AlphaFold Q673U1
Predicted Effect probably damaging
Transcript: ENSMUST00000084628
AA Change: L257Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081678
Gene: ENSMUSG00000046321
AA Change: L257Q

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
Meta Mutation Damage Score 0.9628 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (39/39)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730455P16Rik T A 11: 80,266,329 (GRCm39) probably benign Het
Abcf1 A G 17: 36,270,807 (GRCm39) I510T possibly damaging Het
Adamts18 T A 8: 114,464,212 (GRCm39) K749* probably null Het
Alms1 A G 6: 85,564,785 (GRCm39) E53G unknown Het
Bmper A G 9: 23,310,925 (GRCm39) H453R probably benign Het
Btg1 T A 10: 96,454,216 (GRCm39) M1K probably null Het
Cfap91 A G 16: 38,118,576 (GRCm39) V741A probably benign Het
Cntfr A G 4: 41,658,900 (GRCm39) I277T probably damaging Het
Col6a4 C A 9: 105,903,665 (GRCm39) R1642I probably damaging Het
Ctnna3 T C 10: 64,838,347 (GRCm39) I808T probably damaging Het
Cyp1a1 T A 9: 57,607,432 (GRCm39) V20D probably benign Het
Dnah17 T C 11: 117,961,364 (GRCm39) T2554A probably benign Het
Fcgbp A T 7: 27,803,541 (GRCm39) Q1715L probably benign Het
Gabarapl1 T C 6: 129,515,593 (GRCm39) F77S probably damaging Het
Gvin3 G T 7: 106,203,216 (GRCm39) D9E possibly damaging Het
Hpse2 T C 19: 43,282,714 (GRCm39) K180E probably damaging Het
Ighv1-18 T C 12: 114,646,287 (GRCm39) T106A probably benign Het
Ints2 A C 11: 86,133,778 (GRCm39) L424R probably damaging Het
Iqgap2 A G 13: 95,886,541 (GRCm39) V114A probably damaging Het
Kalrn A T 16: 34,134,579 (GRCm39) I401N probably damaging Het
Mast2 T A 4: 116,194,698 (GRCm39) probably benign Het
Myo18a A G 11: 77,702,839 (GRCm39) E5G possibly damaging Het
Nav3 A T 10: 109,716,394 (GRCm39) probably null Het
Net1 G A 13: 3,934,949 (GRCm39) T359I probably damaging Het
Pcsk9 T A 4: 106,301,899 (GRCm39) H616L probably benign Het
Plekha5 G T 6: 140,534,958 (GRCm39) V597L possibly damaging Het
Plekhg3 T A 12: 76,612,021 (GRCm39) I374N probably damaging Het
Pros1 A T 16: 62,721,008 (GRCm39) R188* probably null Het
Rhbg C T 3: 88,150,755 (GRCm39) V434I probably damaging Het
Rims1 A G 1: 22,363,163 (GRCm39) probably benign Het
Rxfp2 T C 5: 149,975,098 (GRCm39) probably null Het
Sbf2 T C 7: 110,040,673 (GRCm39) I385V probably damaging Het
Slc22a23 A C 13: 34,482,987 (GRCm39) Y181* probably null Het
Spata31 T A 13: 65,069,469 (GRCm39) V539E probably benign Het
Trpv5 G A 6: 41,636,639 (GRCm39) R436C probably damaging Het
Vmn1r13 G A 6: 57,186,970 (GRCm39) C43Y probably benign Het
Wif1 G A 10: 120,918,099 (GRCm39) V156I probably benign Het
Zfyve16 T C 13: 92,641,057 (GRCm39) N1229S 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
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'- CAAGCTGATAGTGGTGGTGC -3'
(R):5'- TTCAGGGTCGATCTGTACATG -3'

Sequencing Primer
(F):5'- TGCGGAACCCAGTGACC -3'
(R):5'- CAGGGTCGATCTGTACATGAGTTCTC -3'
Posted On 2015-04-30