Incidental Mutation 'IGL02977:Hpse2'
ID 406446
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hpse2
Ensembl Gene ENSMUSG00000074852
Gene Name heparanase 2
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.188) question?
Stock # IGL02977
Quality Score
Status
Chromosome 19
Chromosomal Location 42774978-43376794 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 42777561 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000097026 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099428]
AlphaFold B2RY83
Predicted Effect probably benign
Transcript: ENSMUST00000099428
SMART Domains Protein: ENSMUSP00000097026
Gene: ENSMUSG00000074852

DomainStartEndE-ValueType
signal peptide 1 38 N/A INTRINSIC
Pfam:Glyco_hydro_79n 168 408 6.6e-22 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810004N23Rik C T 8: 125,587,930 (GRCm39) V57M probably benign Het
4933440M02Rik T A 7: 124,930,874 (GRCm39) noncoding transcript Het
Bmp5 A G 9: 75,801,081 (GRCm39) T404A probably damaging Het
Cep192 T C 18: 67,985,976 (GRCm39) V1660A probably damaging Het
Csmd2 C A 4: 128,387,069 (GRCm39) Y2121* probably null Het
Daam1 G A 12: 71,990,946 (GRCm39) A187T unknown Het
Dnaja4 T C 9: 54,621,794 (GRCm39) L343P possibly damaging Het
Dym T C 18: 75,196,246 (GRCm39) probably null Het
F5 A T 1: 164,021,590 (GRCm39) D1355V probably damaging Het
Fcgbpl1 C T 7: 27,863,797 (GRCm39) T2523M possibly damaging Het
Gcnt1 A T 19: 17,306,738 (GRCm39) I329N probably damaging Het
Gm10110 T C 14: 90,134,768 (GRCm39) noncoding transcript Het
Hdgfl2 A G 17: 56,406,319 (GRCm39) N569S possibly damaging Het
Hivep1 T C 13: 42,309,412 (GRCm39) S551P possibly damaging Het
Hspe1 T C 1: 55,130,232 (GRCm39) Y88H probably benign Het
Ifi44 A T 3: 151,445,016 (GRCm39) M312K probably benign Het
Lrp1b T G 2: 40,620,747 (GRCm39) D3577A probably damaging Het
Mapk13 G T 17: 28,995,322 (GRCm39) G181V probably damaging Het
Oprl1 G T 2: 181,360,304 (GRCm39) C115F probably damaging Het
Or4d1 A G 11: 87,804,956 (GRCm39) S259P possibly damaging Het
Or5d37 T C 2: 87,923,915 (GRCm39) I122V probably benign Het
Psg22 A G 7: 18,453,524 (GRCm39) D112G probably benign Het
Rp1l1 T A 14: 64,265,599 (GRCm39) I395N probably benign Het
Simc1 T C 13: 54,674,120 (GRCm39) S823P probably benign Het
Slc9b1 T C 3: 135,103,484 (GRCm39) L538P probably damaging Het
Smad2 T A 18: 76,422,235 (GRCm39) Y216N possibly damaging Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tonsl T A 15: 76,517,073 (GRCm39) Q882L probably benign Het
Trav13-2 C T 14: 53,872,764 (GRCm39) T80I probably damaging Het
Uaca C T 9: 60,773,662 (GRCm39) P388S probably benign Het
Vmn2r116 A G 17: 23,607,748 (GRCm39) R439G possibly damaging Het
Vmn2r18 C A 5: 151,510,149 (GRCm39) A75S probably damaging Het
Other mutations in Hpse2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01610:Hpse2 APN 19 43,373,228 (GRCm39) missense probably benign
IGL02315:Hpse2 APN 19 42,955,386 (GRCm39) splice site probably benign
IGL02324:Hpse2 APN 19 42,920,038 (GRCm39) missense probably damaging 1.00
IGL02328:Hpse2 APN 19 42,920,038 (GRCm39) missense probably damaging 1.00
IGL02388:Hpse2 APN 19 43,282,692 (GRCm39) missense probably damaging 1.00
nobility UTSW 19 43,376,509 (GRCm39) missense probably damaging 1.00
R0147:Hpse2 UTSW 19 42,920,099 (GRCm39) splice site probably null
R0148:Hpse2 UTSW 19 42,920,099 (GRCm39) splice site probably null
R0472:Hpse2 UTSW 19 43,001,602 (GRCm39) missense probably damaging 0.99
R0892:Hpse2 UTSW 19 43,376,585 (GRCm39) missense probably benign 0.31
R1033:Hpse2 UTSW 19 42,901,638 (GRCm39) missense probably benign 0.41
R1242:Hpse2 UTSW 19 42,955,416 (GRCm39) missense probably benign 0.00
R1470:Hpse2 UTSW 19 43,376,692 (GRCm39) missense probably benign 0.03
R1470:Hpse2 UTSW 19 43,376,692 (GRCm39) missense probably benign 0.03
R1611:Hpse2 UTSW 19 42,777,504 (GRCm39) missense probably damaging 1.00
R2382:Hpse2 UTSW 19 42,920,061 (GRCm39) missense probably benign 0.04
R2496:Hpse2 UTSW 19 43,001,482 (GRCm39) critical splice donor site probably null
R2982:Hpse2 UTSW 19 43,373,182 (GRCm39) missense probably null 0.99
R4056:Hpse2 UTSW 19 43,282,714 (GRCm39) missense probably damaging 1.00
R4057:Hpse2 UTSW 19 43,282,714 (GRCm39) missense probably damaging 1.00
R4434:Hpse2 UTSW 19 43,282,708 (GRCm39) missense probably benign 0.00
R4762:Hpse2 UTSW 19 42,777,510 (GRCm39) missense possibly damaging 0.52
R4856:Hpse2 UTSW 19 42,777,396 (GRCm39) missense probably damaging 1.00
R4886:Hpse2 UTSW 19 43,373,203 (GRCm39) missense probably damaging 1.00
R5018:Hpse2 UTSW 19 43,373,263 (GRCm39) missense possibly damaging 0.57
R6289:Hpse2 UTSW 19 42,777,418 (GRCm39) missense probably null 1.00
R6382:Hpse2 UTSW 19 43,376,641 (GRCm39) missense possibly damaging 0.93
R6805:Hpse2 UTSW 19 43,282,760 (GRCm39) nonsense probably null
R7528:Hpse2 UTSW 19 42,801,463 (GRCm39) missense probably damaging 1.00
R7793:Hpse2 UTSW 19 43,376,509 (GRCm39) missense probably damaging 1.00
R7944:Hpse2 UTSW 19 43,373,248 (GRCm39) missense probably benign 0.05
R7945:Hpse2 UTSW 19 43,373,248 (GRCm39) missense probably benign 0.05
R9731:Hpse2 UTSW 19 42,794,826 (GRCm39) nonsense probably null
Posted On 2016-08-02