|Institutional Source||Beutler Lab|
|Gene Name||heparanase 2|
|Is this an essential gene?||Possibly non essential (E-score: 0.309)|
|Stock #||R4056 (G1)|
|Chromosomal Location||42788947-43388311 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 43294275 bp|
|Amino Acid Change||Lysine to Glutamic Acid at position 180 (K180E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000097026 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000099428]|
|Predicted Effect||probably damaging
AA Change: K180E
PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
AA Change: K180E
|Meta Mutation Damage Score||0.214|
|Coding Region Coverage||
|Validation Efficiency||100% (39/39)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a heparanase enzyme. The encoded protein is a endoglycosidase that degrades heparin sulfate proteoglycans located on the extracellular matrix and cell surface. This protein may be involved in biological processes involving remodeling of the extracellular matrix including angiogenesis and tumor progression. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a gene-trapped allele exhibit growth retardation, a distended urinary bladder, abnormal voiding behavior, proteinuria, renal dysfunction and malnutrition, reduced cell proliferation, urinary bladder fibrosis, and lethality within one month of age. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hpse2||
(F):5'- ATGTGGGCTCATCTGGATGC -3'
(R):5'- ATGGAACTAAAGGACCTTCAGG -3'
(F):5'- GCTCATCTGGATGCCACACTAG -3'
(R):5'- TCTGTCATGCTGGATAAAAC -3'