Incidental Mutation 'R8183:Hpse'
ID 634720
Institutional Source Beutler Lab
Gene Symbol Hpse
Ensembl Gene ENSMUSG00000035273
Gene Name heparanase
Synonyms Hpa
MMRRC Submission 067781-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8183 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 100827350-100867582 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 100832984 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 437 (Y437F)
Ref Sequence ENSEMBL: ENSMUSP00000044072 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045617] [ENSMUST00000112908]
AlphaFold Q6YGZ1
Predicted Effect probably damaging
Transcript: ENSMUST00000045617
AA Change: Y437F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044072
Gene: ENSMUSG00000035273
AA Change: Y437F

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Glyco_hydro_79n 132 362 1.8e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112908
AA Change: Y437F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108529
Gene: ENSMUSG00000035273
AA Change: Y437F

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Glyco_hydro_79n 144 362 1.2e-24 PFAM
Meta Mutation Damage Score 0.6995 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 100% (51/51)
MGI Phenotype FUNCTION: This gene encodes an endoglucuronidase enzyme that plays an important role in tumor invasion and metastasis. The encoded preproprotein undergoes proteolytic processing to generate an active heterodimeric enzyme that cleaves the heparan sulfate proteoglycans associated with the cell surface and extracellular matrix. Mice lacking the encoded protein do not show any prominent pathological alterations under normal conditions but fail to develop albuminuria and renal damage in response to drug-induced diabetes. [provided by RefSeq, Aug 2016]
PHENOTYPE: Mice homozygous for a null allele exhibit precocious mammry gland development, increased angiogenesis and increased neovascularization. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago2 T A 15: 72,991,337 (GRCm39) K534* probably null Het
Art1 A T 7: 101,756,633 (GRCm39) I275F probably damaging Het
Atp1a2 T C 1: 172,116,918 (GRCm39) N233S probably damaging Het
B3gnt2 T A 11: 22,786,373 (GRCm39) I272L probably benign Het
Bpifa1 A G 2: 153,988,039 (GRCm39) Q194R possibly damaging Het
Cand2 A G 6: 115,768,879 (GRCm39) E563G probably benign Het
Clns1a A G 7: 97,354,888 (GRCm39) Y78C probably damaging Het
Col20a1 T C 2: 180,640,207 (GRCm39) V483A Het
Col3a1 C G 1: 45,373,970 (GRCm39) P621R unknown Het
Cst9 G A 2: 148,678,634 (GRCm39) R88H possibly damaging Het
Cxxc1 T C 18: 74,353,428 (GRCm39) Y513H probably damaging Het
Dcdc2a T C 13: 25,291,633 (GRCm39) F206S possibly damaging Het
Dgkz C A 2: 91,769,937 (GRCm39) G576C probably damaging Het
Dpy19l3 A G 7: 35,394,814 (GRCm39) F575L probably damaging Het
Ftcd T A 10: 76,411,541 (GRCm39) M1K probably null Het
Gtf2ird1 T C 5: 134,386,689 (GRCm39) D1044G unknown Het
Gzmc A T 14: 56,470,164 (GRCm39) M111K probably damaging Het
Ifi203 A G 1: 173,756,266 (GRCm39) S506P unknown Het
Igsf10 A T 3: 59,238,036 (GRCm39) I715K probably benign Het
Ints9 T C 14: 65,273,902 (GRCm39) V569A probably damaging Het
Itih3 A G 14: 30,631,433 (GRCm39) F821S probably benign Het
Kcnh7 T C 2: 62,533,321 (GRCm39) H1186R probably damaging Het
Krt33a A G 11: 99,905,575 (GRCm39) probably null Het
Lonrf1 A T 8: 36,689,819 (GRCm39) M718K possibly damaging Het
Mefv C T 16: 3,526,446 (GRCm39) R756K possibly damaging Het
Metap1d T A 2: 71,337,207 (GRCm39) F40Y possibly damaging Het
Myh1 A T 11: 67,092,832 (GRCm39) D42V possibly damaging Het
Myo15b T G 11: 115,773,843 (GRCm39) probably null Het
Nsd1 T C 13: 55,460,186 (GRCm39) S2241P probably damaging Het
Or10q12 T A 19: 13,746,086 (GRCm39) Y127N probably damaging Het
Osbpl3 C A 6: 50,280,089 (GRCm39) R710L probably benign Het
Osbpl6 C T 2: 76,415,404 (GRCm39) R589C probably damaging Het
Pam T C 1: 97,762,199 (GRCm39) T795A probably benign Het
Patj A C 4: 98,562,466 (GRCm39) E1534D probably damaging Het
Plscr5 A G 9: 92,080,655 (GRCm39) Q47R probably benign Het
Ppil1 A T 17: 29,481,053 (GRCm39) probably null Het
Sec23b G T 2: 144,401,189 (GRCm39) V17L probably benign Het
Serpina3j C A 12: 104,284,754 (GRCm39) Y310* probably null Het
Slc6a7 T C 18: 61,140,448 (GRCm39) S195G probably null Het
Snrpn A G 7: 59,634,830 (GRCm39) Y168H probably damaging Het
Tmprss15 T C 16: 78,884,400 (GRCm39) D94G probably benign Het
Tnpo3 A T 6: 29,558,758 (GRCm39) M724K probably damaging Het
Trappc11 T G 8: 47,982,391 (GRCm39) E116A possibly damaging Het
Trpc6 T C 9: 8,653,150 (GRCm39) F652S possibly damaging Het
Trrap T G 5: 144,765,343 (GRCm39) S2501A probably benign Het
Ubr4 T G 4: 139,209,782 (GRCm39) S5005A unknown Het
Urah A T 7: 140,416,707 (GRCm39) Q60L probably benign Het
Vmn2r28 A T 7: 5,491,147 (GRCm39) C367S probably damaging Het
Zmym1 T C 4: 126,952,649 (GRCm39) D44G probably benign Het
Other mutations in Hpse
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00517:Hpse APN 5 100,839,196 (GRCm39) missense possibly damaging 0.89
IGL00743:Hpse APN 5 100,846,865 (GRCm39) missense probably benign 0.01
IGL02377:Hpse APN 5 100,839,199 (GRCm39) missense probably damaging 1.00
R0082:Hpse UTSW 5 100,840,128 (GRCm39) missense possibly damaging 0.93
R0194:Hpse UTSW 5 100,867,378 (GRCm39) missense probably benign
R1974:Hpse UTSW 5 100,840,104 (GRCm39) missense probably damaging 1.00
R2065:Hpse UTSW 5 100,846,797 (GRCm39) missense probably damaging 1.00
R2152:Hpse UTSW 5 100,839,269 (GRCm39) nonsense probably null
R2405:Hpse UTSW 5 100,856,637 (GRCm39) missense possibly damaging 0.78
R3791:Hpse UTSW 5 100,840,104 (GRCm39) missense probably damaging 1.00
R5127:Hpse UTSW 5 100,867,403 (GRCm39) missense unknown
R5147:Hpse UTSW 5 100,867,375 (GRCm39) missense probably benign 0.00
R5385:Hpse UTSW 5 100,856,590 (GRCm39) nonsense probably null
R6446:Hpse UTSW 5 100,843,435 (GRCm39) nonsense probably null
R7009:Hpse UTSW 5 100,840,145 (GRCm39) missense probably benign 0.01
R7186:Hpse UTSW 5 100,843,395 (GRCm39) missense probably damaging 1.00
R7681:Hpse UTSW 5 100,839,257 (GRCm39) missense possibly damaging 0.94
R7964:Hpse UTSW 5 100,846,777 (GRCm39) critical splice donor site probably null
R8064:Hpse UTSW 5 100,836,766 (GRCm39) missense probably benign 0.00
R8268:Hpse UTSW 5 100,846,907 (GRCm39) missense probably damaging 1.00
R8830:Hpse UTSW 5 100,843,452 (GRCm39) missense probably benign 0.12
R8845:Hpse UTSW 5 100,859,248 (GRCm39) missense probably benign
R8932:Hpse UTSW 5 100,846,872 (GRCm39) missense possibly damaging 0.84
R8998:Hpse UTSW 5 100,840,109 (GRCm39) missense probably damaging 1.00
R9731:Hpse UTSW 5 100,842,022 (GRCm39) missense probably damaging 1.00
X0022:Hpse UTSW 5 100,839,244 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTTTGCAGCCAACAGGAGAC -3'
(R):5'- GCAAAGTGTTCTCTCTTGGGAG -3'

Sequencing Primer
(F):5'- GTTTGCAGCCAACAGGAGACTTTAC -3'
(R):5'- TGCTTCCCGAATAAGGCC -3'
Posted On 2020-07-13