Mutagenetix > Incidental Mutation

Incidental Mutation 'R0082:Hpse'

201425

Institutional Source

Beutler Lab

Gene Symbol

Hpse

Ensembl Gene

ENSMUSG00000035273

Gene Name

heparanase

Synonyms

Hpa

MMRRC Submission

038369-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0082 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

100827350-100867582 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100840128 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 330 (K330E)

Ref Sequence

ENSEMBL: ENSMUSP00000108529 (fasta)

Gene Model

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

AlphaFold

Q6YGZ1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045617
AA Change: K330E

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000044072
Gene: ENSMUSG00000035273
AA Change: K330E

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

possibly damaging
Transcript: ENSMUST00000112908
AA Change: K330E

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108529
Gene: ENSMUSG00000035273
AA Change: K330E

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

Meta Mutation Damage Score

0.2027

Coding Region Coverage

1x: 98.9%
3x: 97.3%
10x: 91.7%
20x: 73.7%

Validation Efficiency

94% (136/144)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam17	A	C	12: 21,379,049 (GRCm39)		probably benign	Het
Adcy1	T	C	11: 7,099,497 (GRCm39)		probably benign	Het
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Ankrd33b	T	C	15: 31,297,935 (GRCm39)	N274S	probably benign	Het
Antkmt	T	C	17: 26,010,548 (GRCm39)	I89V	probably benign	Het
Arhgef1	C	T	7: 24,612,030 (GRCm39)	Q100*	probably null	Het
Ccdc180	A	G	4: 45,896,205 (GRCm39)	D118G	probably null	Het
Cdh23	T	C	10: 60,148,366 (GRCm39)	D2667G	probably damaging	Het
Cdh4	A	T	2: 179,535,981 (GRCm39)	N844I	possibly damaging	Het
Cep57	T	C	9: 13,722,172 (GRCm39)		probably benign	Het
Dnah7a	A	T	1: 53,557,867 (GRCm39)	D2182E	probably damaging	Het
Dync1h1	A	G	12: 110,602,880 (GRCm39)	T2174A	probably benign	Het
Eef1akmt2	T	A	7: 132,453,201 (GRCm39)	R44*	probably null	Het
Evpl	T	A	11: 116,125,829 (GRCm39)	I43F	probably damaging	Het
F13a1	G	T	13: 37,172,927 (GRCm39)	P151Q	probably damaging	Het
Galnt5	A	T	2: 57,889,047 (GRCm39)	I216F	possibly damaging	Het
Glt6d1	C	A	2: 25,684,739 (GRCm39)		probably null	Het
Gpr139	T	A	7: 118,744,268 (GRCm39)	T106S	probably benign	Het
Hoatz	T	C	9: 51,013,102 (GRCm39)	T57A	probably benign	Het
Hoxb3	A	G	11: 96,235,097 (GRCm39)	D8G	probably damaging	Het
Kcmf1	G	T	6: 72,827,470 (GRCm39)		probably null	Het
Klra2	T	C	6: 131,197,210 (GRCm39)	N263S	possibly damaging	Het
Klra8	T	C	6: 130,102,018 (GRCm39)	D139G	probably benign	Het
Lrrc46	A	C	11: 96,931,903 (GRCm39)		probably benign	Het
Ly86	A	T	13: 37,602,513 (GRCm39)		probably null	Het
Mmp20	C	T	9: 7,642,808 (GRCm39)	T214M	probably benign	Het
Or4k5	A	T	14: 50,385,512 (GRCm39)	I273K	probably damaging	Het
Or52s1b	G	T	7: 102,822,409 (GRCm39)	A145E	probably benign	Het
Or6c1b	T	C	10: 129,273,140 (GRCm39)	I153T	possibly damaging	Het
Or6c209	G	A	10: 129,483,522 (GRCm39)	C175Y	probably benign	Het
Pigg	A	G	5: 108,460,751 (GRCm39)		probably benign	Het
Polq	C	A	16: 36,837,619 (GRCm39)	T177K	probably benign	Het
Pomgnt2	A	T	9: 121,811,326 (GRCm39)	V485E	probably damaging	Het
Ppip5k2	A	T	1: 97,687,057 (GRCm39)	C49*	probably null	Het
Prkrip1	T	C	5: 136,226,682 (GRCm39)	N53D	possibly damaging	Het
Prrc2b	T	C	2: 32,102,310 (GRCm39)		probably benign	Het
Qprt	T	C	7: 126,707,358 (GRCm39)	E246G	probably damaging	Het
Rpl9	A	G	5: 65,545,995 (GRCm39)	V167A	probably benign	Het
Rskr	T	C	11: 78,184,384 (GRCm39)	S244P	probably damaging	Het
Sfi1	TCGC	TC	11: 3,096,254 (GRCm39)		probably null	Het
Sgsm1	T	C	5: 113,436,702 (GRCm39)	I43V	probably benign	Het
Slc38a7	A	G	8: 96,567,109 (GRCm39)		probably benign	Het
Slc8b1	A	G	5: 120,662,265 (GRCm39)		probably benign	Het
Sp2	T	C	11: 96,852,525 (GRCm39)	Y133C	probably damaging	Het
Spdye4b	A	T	5: 143,181,430 (GRCm39)	D95V	probably damaging	Het
Srek1	T	C	13: 103,880,194 (GRCm39)	T455A	unknown	Het
Stox2	A	T	8: 47,656,317 (GRCm39)		probably benign	Het
Synrg	T	A	11: 83,878,736 (GRCm39)		probably benign	Het
Tie1	T	A	4: 118,341,550 (GRCm39)	E254V	probably damaging	Het
Tmem97	G	T	11: 78,433,414 (GRCm39)	F160L	probably damaging	Het
Utp6	A	T	11: 79,844,457 (GRCm39)	H189Q	possibly damaging	Het
Vip	T	A	10: 5,594,953 (GRCm39)	*172R	probably null	Het
Wdr91	T	C	6: 34,883,620 (GRCm39)	R132G	possibly damaging	Het
Wipi1	T	C	11: 109,469,110 (GRCm39)		probably benign	Het
Zfp445	A	G	9: 122,681,421 (GRCm39)	V840A	probably damaging	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
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
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'- TCCCACAGACAGCTCCTTATCCAGTG -3'
(R):5'- GATAAAGACCTGAGTGGTTGCCGATG -3'

Sequencing Primer
(F):5'- aaccattgagccatctctcc -3'
(R):5'- TTGCCGATGTAACTAAGAGGAC -3'

Posted On

2014-06-10