Incidental Mutation 'IGL02388:Hpse2'
ID291627
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hpse2
Ensembl Gene ENSMUSG00000074852
Gene Nameheparanase 2
SynonymsLOC381226
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.219) question?
Stock #IGL02388
Quality Score
Status
Chromosome19
Chromosomal Location42788947-43388311 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 43294253 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 187 (V187D)
Ref Sequence ENSEMBL: ENSMUSP00000097026 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099428]
Predicted Effect probably damaging
Transcript: ENSMUST00000099428
AA Change: V187D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097026
Gene: ENSMUSG00000074852
AA Change: V187D

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930597O21Rik A T 6: 66,896,113 probably benign Het
9230019H11Rik A T 10: 3,125,050 noncoding transcript Het
Abca8a A G 11: 110,078,815 probably benign Het
Asphd1 A T 7: 126,946,712 probably benign Het
Ccdc77 G A 6: 120,331,897 A301V probably benign Het
Cep350 G T 1: 155,953,753 T135K probably benign Het
Chrna7 A T 7: 63,107,691 D153E probably damaging Het
Clec4b2 G T 6: 123,202,228 probably null Het
Cyp2c67 T C 19: 39,643,355 N133D probably benign Het
Dglucy T C 12: 100,856,998 I484T probably damaging Het
Dtna G T 18: 23,597,514 M319I probably benign Het
E2f5 T A 3: 14,588,280 M152K probably benign Het
Emsy A T 7: 98,641,666 M58K probably damaging Het
Epha1 A G 6: 42,365,016 Y367H probably damaging Het
Etv1 A G 12: 38,781,799 S32G possibly damaging Het
Fam114a1 A T 5: 65,008,980 probably benign Het
Fbxo30 T A 10: 11,290,378 N281K probably benign Het
Galnt12 G T 4: 47,117,941 R412L probably damaging Het
Gm5786 T A 12: 59,081,596 noncoding transcript Het
Gm9845 T C 3: 39,358,467 noncoding transcript Het
Hecw2 A G 1: 53,925,699 V656A probably benign Het
Itsn2 T A 12: 4,629,557 M122K possibly damaging Het
Kcnj11 A G 7: 46,099,789 S37P probably benign Het
Kif13b T C 14: 64,800,358 I1491T probably damaging Het
Krt36 T A 11: 100,105,164 K145* probably null Het
Loxhd1 A G 18: 77,369,137 I499V probably benign Het
Map3k4 G T 17: 12,271,610 N311K probably damaging Het
Mical2 C A 7: 112,335,413 H880N probably benign Het
Myo1d A T 11: 80,637,997 C666* probably null Het
Nlrx1 C T 9: 44,264,005 R158H probably benign Het
Olfr1115 T A 2: 87,251,951 Y5N probably benign Het
Olfr1251 T C 2: 89,666,972 S305G probably benign Het
Olfr1494 C A 19: 13,749,630 H175N possibly damaging Het
Olfr380 A T 11: 73,453,280 L311I probably benign Het
Olfr45 A G 7: 140,691,111 T69A probably benign Het
Pdgfrl A G 8: 40,977,057 R154G probably benign Het
Pitpnb T C 5: 111,330,833 F7S possibly damaging Het
Ppm1n G A 7: 19,279,172 R285C probably damaging Het
Prdm11 A T 2: 92,975,612 I331N possibly damaging Het
Ptprb C T 10: 116,367,521 P2066L probably damaging Het
Ric8b T C 10: 84,992,271 probably benign Het
Setx A G 2: 29,173,653 I2320M probably damaging Het
Skil C A 3: 31,111,638 S368* probably null Het
Slc1a5 G T 7: 16,785,719 probably null Het
Trpm7 A C 2: 126,819,891 V1079G possibly damaging Het
Tulp1 A G 17: 28,358,659 F2L probably damaging Het
Zbtb17 A G 4: 141,461,913 Y48C probably damaging Het
Zfp605 T A 5: 110,127,640 I208N possibly damaging Het
Other mutations in Hpse2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01610:Hpse2 APN 19 43384789 missense probably benign
IGL02315:Hpse2 APN 19 42966947 splice site probably benign
IGL02324:Hpse2 APN 19 42931599 missense probably damaging 1.00
IGL02328:Hpse2 APN 19 42931599 missense probably damaging 1.00
IGL02977:Hpse2 APN 19 42789122 splice site probably benign
nobility UTSW 19 43388070 missense probably damaging 1.00
R0147:Hpse2 UTSW 19 42931660 splice site probably null
R0148:Hpse2 UTSW 19 42931660 splice site probably null
R0472:Hpse2 UTSW 19 43013163 missense probably damaging 0.99
R0892:Hpse2 UTSW 19 43388146 missense probably benign 0.31
R1033:Hpse2 UTSW 19 42913199 missense probably benign 0.41
R1242:Hpse2 UTSW 19 42966977 missense probably benign 0.00
R1470:Hpse2 UTSW 19 43388253 missense probably benign 0.03
R1470:Hpse2 UTSW 19 43388253 missense probably benign 0.03
R1611:Hpse2 UTSW 19 42789065 missense probably damaging 1.00
R2382:Hpse2 UTSW 19 42931622 missense probably benign 0.04
R2496:Hpse2 UTSW 19 43013043 critical splice donor site probably null
R2982:Hpse2 UTSW 19 43384743 missense probably null 0.99
R4056:Hpse2 UTSW 19 43294275 missense probably damaging 1.00
R4057:Hpse2 UTSW 19 43294275 missense probably damaging 1.00
R4434:Hpse2 UTSW 19 43294269 missense probably benign 0.00
R4762:Hpse2 UTSW 19 42789071 missense possibly damaging 0.52
R4856:Hpse2 UTSW 19 42788957 missense probably damaging 1.00
R4886:Hpse2 UTSW 19 43384764 missense probably damaging 1.00
R5018:Hpse2 UTSW 19 43384824 missense possibly damaging 0.57
R6289:Hpse2 UTSW 19 42788979 missense probably null 1.00
R6382:Hpse2 UTSW 19 43388202 missense possibly damaging 0.93
R6805:Hpse2 UTSW 19 43294321 nonsense probably null
R7528:Hpse2 UTSW 19 42813024 missense probably damaging 1.00
R7793:Hpse2 UTSW 19 43388070 missense probably damaging 1.00
Posted On2015-04-16