Mutagenetix > Incidental Mutation

Incidental Mutation 'R2496:Hpse2'

251247

Institutional Source

Beutler Lab

Gene Symbol

Hpse2

Ensembl Gene

ENSMUSG00000074852

Gene Name

heparanase 2

Synonyms

MMRRC Submission

040410-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.188) question?

Stock #

R2496 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42774978-43376794 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to C at 43001482 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000097026 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099428] [ENSMUST00000099428]

AlphaFold

B2RY83

Predicted Effect

probably null
Transcript: ENSMUST00000099428

SMART Domains

Protein: ENSMUSP00000097026
Gene: ENSMUSG00000074852

Domain	Start	End	E-Value	Type
signal peptide	1	38	N/A	INTRINSIC
Pfam:Glyco_hydro_79n	168	408	6.6e-22	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000099428

SMART Domains

Protein: ENSMUSP00000097026
Gene: ENSMUSG00000074852

Domain	Start	End	E-Value	Type
signal peptide	1	38	N/A	INTRINSIC
Pfam:Glyco_hydro_79n	168	408	6.6e-22	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	C	7: 78,761,065 (GRCm39)	W1926R	probably damaging	Het
Arhgef25	T	C	10: 127,023,063 (GRCm39)	T106A	probably benign	Het
Baz1b	G	A	5: 135,239,629 (GRCm39)	R243Q	probably damaging	Het
Cdhr3	A	G	12: 33,099,068 (GRCm39)	Y508H	probably benign	Het
Cyp2d9	T	A	15: 82,336,680 (GRCm39)	W10R	probably damaging	Het
Dmxl1	A	G	18: 50,013,858 (GRCm39)	T1549A	possibly damaging	Het
Dnah8	A	T	17: 31,070,705 (GRCm39)	R4464W	probably damaging	Het
Dpp4	G	A	2: 62,217,477 (GRCm39)	T40M	possibly damaging	Het
Dync1h1	A	G	12: 110,607,654 (GRCm39)	H2723R	possibly damaging	Het
E2f3	C	T	13: 30,095,289 (GRCm39)	S333N	probably damaging	Het
Fam120a	G	T	13: 49,121,069 (GRCm39)	A79E	probably damaging	Het
Fat3	A	G	9: 15,877,399 (GRCm39)	S3405P	probably benign	Het
Gaa	T	C	11: 119,174,531 (GRCm39)	S793P	possibly damaging	Het
Galc	A	C	12: 98,193,540 (GRCm39)	F350V	probably damaging	Het
Garre1	A	G	7: 33,955,916 (GRCm39)	V391A	possibly damaging	Het
Gm136	A	G	4: 34,746,541 (GRCm39)	C157R	probably damaging	Het
Gm3327	A	C	14: 44,363,720 (GRCm39)	N108T	unknown	Het
H2-M10.2	A	G	17: 36,596,771 (GRCm39)	Y102H	possibly damaging	Het
Hmcn1	A	T	1: 150,490,972 (GRCm39)	D4192E	probably benign	Het
Idh3a	T	C	9: 54,510,633 (GRCm39)	V362A	probably benign	Het
Kdm7a	A	T	6: 39,147,697 (GRCm39)		probably null	Het
Krt6b	A	G	15: 101,588,216 (GRCm39)	V148A	probably damaging	Het
Lrba	G	A	3: 86,439,394 (GRCm39)	R1977H	probably damaging	Het
Magi2	A	T	5: 19,883,750 (GRCm39)	Y134F	probably benign	Het
Mamdc4	T	C	2: 25,455,914 (GRCm39)	Y801C	probably damaging	Het
Maml1	T	C	11: 50,149,371 (GRCm39)	T790A	probably benign	Het
Map3k19	A	G	1: 127,750,823 (GRCm39)	Y843H	probably damaging	Het
Mdfic	A	T	6: 15,741,041 (GRCm39)	H45L	possibly damaging	Het
Mlx	C	T	11: 100,979,080 (GRCm39)	T87I	probably benign	Het
Mms22l	T	A	4: 24,521,269 (GRCm39)	I382K	probably benign	Het
Mtf1	A	G	4: 124,732,697 (GRCm39)	N585S	probably benign	Het
Mylk2	C	T	2: 152,755,588 (GRCm39)	P251S	probably damaging	Het
Myorg	A	G	4: 41,499,165 (GRCm39)	V155A	probably benign	Het
Nox4	A	T	7: 86,955,958 (GRCm39)	T157S	probably benign	Het
Oas2	A	T	5: 120,886,682 (GRCm39)	H161Q	probably benign	Het
Obscn	A	T	11: 58,994,268 (GRCm39)	V1563E	probably damaging	Het
Or2n1b	T	C	17: 38,460,322 (GRCm39)	V281A	possibly damaging	Het
Or55b3	T	C	7: 102,126,354 (GRCm39)	K241R	probably damaging	Het
Or6c203	A	C	10: 129,009,966 (GRCm39)	F308C	probably benign	Het
Pcdhb11	T	A	18: 37,555,375 (GRCm39)	I235N	probably benign	Het
Pcsk5	A	T	19: 17,443,522 (GRCm39)	C1212*	probably null	Het
Ptges	C	T	2: 30,782,722 (GRCm39)	G110D	possibly damaging	Het
Rsph4a	A	T	10: 33,784,094 (GRCm39)	I239L	possibly damaging	Het
Setx	A	G	2: 29,034,813 (GRCm39)	I433V	probably benign	Het
Smyd4	T	C	11: 75,281,927 (GRCm39)	S467P	probably benign	Het
Snai2	A	T	16: 14,523,866 (GRCm39)	H10L	possibly damaging	Het
Snw1	T	C	12: 87,497,589 (GRCm39)	I467V	probably benign	Het
Stab1	A	T	14: 30,883,420 (GRCm39)	C301S	probably damaging	Het
Tax1bp1	T	A	6: 52,735,342 (GRCm39)		probably null	Het
Tmem70	C	A	1: 16,735,575 (GRCm39)	P15Q	probably benign	Het
Tmem87a	T	C	2: 120,224,859 (GRCm39)	E134G	probably damaging	Het
Ubr4	C	T	4: 139,200,516 (GRCm39)		probably benign	Het
Ugt2b37	C	T	5: 87,402,569 (GRCm39)	V21M	probably damaging	Het
Ugt2b38	T	A	5: 87,569,551 (GRCm39)	I259F	probably damaging	Het
Zfp804a	T	A	2: 82,066,188 (GRCm39)	L53Q	probably damaging	Het

Other mutations in Hpse2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL02977:Hpse2	APN	19	42,777,561 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- AACTGAATCCACTGTCCTTAACTC -3'
(R):5'- GCCAGGTCTCTAGACAAACTTTATAAC -3'

Sequencing Primer
(F):5'- TCCATTGTGGGTAAAGCCAC -3'
(R):5'- ATAACTTTGCTGATTGCTCTGGAC -3'

Posted On

2014-12-04