Mutagenetix > Incidental Mutation

Incidental Mutation 'R7964:Hpse'

650256

Institutional Source

Beutler Lab

Gene Symbol

Hpse

Ensembl Gene

ENSMUSG00000035273

Gene Name

heparanase

Synonyms

Hpa

MMRRC Submission

046007-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7964 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100827350-100867582 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 100846777 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000044072 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045617] [ENSMUST00000112908]

AlphaFold

Q6YGZ1

Predicted Effect

probably null
Transcript: ENSMUST00000045617

SMART Domains

Protein: ENSMUSP00000044072
Gene: ENSMUSG00000035273

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Glyco_hydro_79n	132	362	1.8e-26	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000112908

SMART Domains

Protein: ENSMUSP00000108529
Gene: ENSMUSG00000035273

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Glyco_hydro_79n	144	362	1.2e-24	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,266,146 (GRCm39)	M3042L	probably benign	Het
Abca3	T	A	17: 24,621,410 (GRCm39)	L1345Q	probably benign	Het
Adam20	G	T	8: 41,249,944 (GRCm39)	V685F	probably damaging	Het
Adam25	T	A	8: 41,208,576 (GRCm39)	I614N	probably damaging	Het
Aldh1a7	C	T	19: 20,677,371 (GRCm39)	V417M	probably damaging	Het
Aldh1a7	C	T	19: 20,693,406 (GRCm39)	G171D	probably benign	Het
Aloxe3	T	C	11: 69,017,362 (GRCm39)	F45S	probably damaging	Het
Ankrd26	T	C	6: 118,500,160 (GRCm39)	I1104V	probably benign	Het
Ap3d1	C	A	10: 80,565,891 (GRCm39)	R92L	probably damaging	Het
Aspm	A	G	1: 139,408,424 (GRCm39)	Q2437R	probably damaging	Het
Bcl11a	T	C	11: 24,113,353 (GRCm39)	I232T	probably benign	Het
Cdcp3	G	T	7: 130,899,963 (GRCm39)	R2102L	unknown	Het
Cemip2	T	C	19: 21,775,794 (GRCm39)		probably null	Het
Cfap97	A	G	8: 46,623,237 (GRCm39)	D209G	possibly damaging	Het
Csmd2	A	G	4: 128,417,303 (GRCm39)	M2754V		Het
Dcdc2c	A	G	12: 28,520,318 (GRCm39)	I586T		Het
Dkk4	T	C	8: 23,115,368 (GRCm39)	C73R	probably damaging	Het
Dnai3	T	C	3: 145,774,531 (GRCm39)	N439D	probably benign	Het
Dzip3	T	C	16: 48,772,268 (GRCm39)	D467G	probably damaging	Het
Eif5	T	C	12: 111,506,608 (GRCm39)	F67L	probably benign	Het
Elmod1	A	G	9: 53,838,860 (GRCm39)	I100T	probably benign	Het
Gm9837	A	G	11: 53,361,001 (GRCm39)	L71P	unknown	Het
Insc	T	C	7: 114,445,708 (GRCm39)	L472P	probably damaging	Het
Itgax	A	C	7: 127,739,590 (GRCm39)		probably null	Het
Lair1	A	G	7: 4,013,803 (GRCm39)	V148A	probably benign	Het
Lama2	A	G	10: 27,099,977 (GRCm39)		probably null	Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Lgr5	T	C	10: 115,288,079 (GRCm39)	D855G	probably benign	Het
Lrp1	C	A	10: 127,410,913 (GRCm39)	R1425L	possibly damaging	Het
Lrp1b	A	G	2: 40,488,523 (GRCm39)	S4521P		Het
Nbas	A	G	12: 13,406,896 (GRCm39)	Y831C	probably damaging	Het
Nek9	C	A	12: 85,385,787 (GRCm39)	R70L	probably benign	Het
Nlrp2	A	C	7: 5,331,527 (GRCm39)	L290V	probably damaging	Het
Nos1	T	A	5: 118,038,607 (GRCm39)	I480N	probably damaging	Het
Or4a80	T	C	2: 89,583,158 (GRCm39)	N5D	possibly damaging	Het
Pcdhb13	C	A	18: 37,577,871 (GRCm39)	Q750K	possibly damaging	Het
Pik3c2g	C	T	6: 139,827,786 (GRCm39)	T727I		Het
Pik3r6	C	A	11: 68,424,565 (GRCm39)	P390Q	probably benign	Het
Pramel1	T	C	4: 143,123,810 (GRCm39)	S162P	probably benign	Het
Psg21	A	G	7: 18,381,136 (GRCm39)	M469T	probably benign	Het
Psg27	A	T	7: 18,299,124 (GRCm39)	W66R	probably damaging	Het
Sbno2	A	G	10: 79,904,185 (GRCm39)	C371R	probably damaging	Het
Shroom1	G	T	11: 53,355,149 (GRCm39)	K329N	possibly damaging	Het
Slc35a3	A	G	3: 116,480,984 (GRCm39)	I93T	possibly damaging	Het
Slc38a2	G	A	15: 96,590,453 (GRCm39)	T297M	probably benign	Het
Sorl1	T	A	9: 41,902,697 (GRCm39)	D1620V	probably damaging	Het
Srsf4	T	A	4: 131,618,544 (GRCm39)	L45Q	probably benign	Het
Tcaf2	G	A	6: 42,606,640 (GRCm39)	S438L	probably benign	Het
Trappc11	T	A	8: 47,979,979 (GRCm39)	I186L	possibly damaging	Het
Usp9y	A	T	Y: 1,316,914 (GRCm39)	N1878K	probably benign	Het
Zfp280d	T	A	9: 72,229,740 (GRCm39)	M349K	probably damaging	Het
Zgpat	A	G	2: 181,020,274 (GRCm39)	H227R	probably benign	Het

Other mutations in Hpse

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R8064:Hpse	UTSW	5	100,836,766 (GRCm39)	missense	probably benign	0.00
R8183:Hpse	UTSW	5	100,832,984 (GRCm39)	missense	probably damaging	1.00
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'- GTAAGCAACACCACCAGCATTTA -3'
(R):5'- TCAGTGGACATGCTCTACAGT -3'

Sequencing Primer
(F):5'- GCAAGAAGGCCTGAGTTCATCTTC -3'
(R):5'- GGACATGCTCTACAGTTTTGCCAAG -3'

Posted On

2020-09-15