|Institutional Source||Beutler Lab|
|Gene Name||heparan sulfate (glucosamine) 3-O-sulfotransferase 2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R3002 (G1)|
|Chromosomal Location||121391859-121501770 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 121500687 bp|
|Amino Acid Change||Methionine to Lysine at position 252 (M252K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000081678 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000084628]|
|Predicted Effect||probably damaging
AA Change: M252K
PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
AA Change: M252K
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.054|
|Coding Region Coverage||
|Validation Efficiency||100% (41/41)|
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||
|Other mutations in Hs3st2||
(F):5'- CGAGACACCAAGCTGATAGTG -3'
(R):5'- AGGGTCGATCTGTACATGAGTTC -3'
(F):5'- CACCAAGCTGATAGTGGTGGTG -3'
(R):5'- AGGCAGGAGGGTTGACTCTG -3'