|Institutional Source||Beutler Lab|
|Gene Name||iduronate 2-sulfatase|
|Is this an essential gene?||Probably non essential (E-score: 0.166)|
|Stock #||R4357 (G1)|
|Chromosomal Location||70343069-70365084 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 70346344 bp|
|Amino Acid Change||Glycine to Cysteine at position 506 (G506C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000099046 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000101509]|
|Predicted Effect||probably damaging
AA Change: G506C
PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
AA Change: G506C
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.3184|
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sulfatase family of proteins. The encoded preproprotein is proteolytically processed to generate two polypeptide chains. This enzyme is involved in the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this gene are associated with the X-linked lysosomal storage disease mucopolysaccharidosis type II, also known as Hunter syndrome. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice with homozygous disruption of this gene display lysosomal accumulation of glycosaminoglycans in multiple tissues, premature death, impaired locomotor activity, joint swelling, and skeletal defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ids||
(F):5'- ATATGTGCCCACTGAGGCTG -3'
(R):5'- TCATGTTGAGCTTTGCAGAGAAGG -3'
(F):5'- TGGCAGAACTCAAGGCCTCAG -3'
(R):5'- GAAGCATTTGCAGCTCCATG -3'