Mutagenetix > Incidental Mutation

Incidental Mutation 'R4434:Hpse2'

328783

Institutional Source

Beutler Lab

Gene Symbol

Hpse2

Ensembl Gene

ENSMUSG00000074852

Gene Name

heparanase 2

Synonyms

MMRRC Submission

041148-MU

Accession Numbers

Essential gene?

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

Stock #

R4434 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42774978-43376794 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43282708 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 182 (S182P)

Ref Sequence

ENSEMBL: ENSMUSP00000097026 (fasta)

Gene Model

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

AlphaFold

B2RY83

Predicted Effect

probably benign
Transcript: ENSMUST00000099428
AA Change: S182P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000097026
Gene: ENSMUSG00000074852
AA Change: S182P

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	A	T	8: 111,781,253 (GRCm39)	Q907L	probably null	Het
Adam6b	A	C	12: 113,454,281 (GRCm39)	Q366P	probably damaging	Het
AI597479	C	T	1: 43,139,959 (GRCm39)	Q62*	probably null	Het
Akap9	T	A	5: 4,082,708 (GRCm39)	M1944K	probably damaging	Het
Akr1c19	T	C	13: 4,292,615 (GRCm39)	V212A	probably benign	Het
Ank3	C	T	10: 69,822,900 (GRCm39)	S523L	probably damaging	Het
Antxrl	G	A	14: 33,793,574 (GRCm39)		probably benign	Het
Arhgap21	A	G	2: 20,972,146 (GRCm39)	C26R	probably benign	Het
Cdc37l1	T	C	19: 28,985,021 (GRCm39)	F224L	probably damaging	Het
Csmd3	G	A	15: 47,763,191 (GRCm39)	T1215I	possibly damaging	Het
Dnah7c	G	A	1: 46,705,442 (GRCm39)	R2485H	probably damaging	Het
Dnah9	T	A	11: 65,998,901 (GRCm39)	N1049I	possibly damaging	Het
Dnaja3	T	G	16: 4,507,859 (GRCm39)	Y120*	probably null	Het
Ehbp1l1	G	T	19: 5,766,276 (GRCm39)	R412S	possibly damaging	Het
Fam169a	A	G	13: 97,263,248 (GRCm39)	D567G	probably damaging	Het
Gcnt4	T	A	13: 97,082,850 (GRCm39)	Y49N	probably benign	Het
Gm5849	T	A	3: 90,685,182 (GRCm39)	K1M	probably null	Het
Gngt1	A	G	6: 3,994,282 (GRCm39)	D20G	probably benign	Het
Gnptab	A	G	10: 88,248,484 (GRCm39)	N104S	probably damaging	Het
Gpn3	A	G	5: 122,520,115 (GRCm39)	D223G	probably benign	Het
Hectd1	A	T	12: 51,798,835 (GRCm39)	I2095K	probably damaging	Het
Hephl1	C	T	9: 14,988,092 (GRCm39)	R672H	probably damaging	Het
Itgb4	T	A	11: 115,890,640 (GRCm39)	S1109R	probably benign	Het
Itgbl1	A	T	14: 124,209,611 (GRCm39)	D330V	probably damaging	Het
Krt77	A	T	15: 101,773,904 (GRCm39)	V250E	probably damaging	Het
Mycbp2	T	A	14: 103,371,225 (GRCm39)	N4108Y	probably damaging	Het
Nampt	T	C	12: 32,888,362 (GRCm39)	I171T	probably damaging	Het
Nckap5l	A	C	15: 99,320,744 (GRCm39)	S1270A	probably benign	Het
Opa1	A	G	16: 29,430,801 (GRCm39)	I500M	probably damaging	Het
Or10j5	C	T	1: 172,785,111 (GRCm39)	H250Y	probably damaging	Het
Pax8	G	A	2: 24,319,621 (GRCm39)	P350L	possibly damaging	Het
Plxnb2	A	G	15: 89,047,006 (GRCm39)	C772R	probably damaging	Het
Prh1	A	T	6: 132,548,841 (GRCm39)	H116L	unknown	Het
Rgsl1	C	T	1: 153,678,087 (GRCm39)	A114T	possibly damaging	Het
Rln1	A	T	19: 29,311,962 (GRCm39)	F12Y	possibly damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Scube1	A	T	15: 83,606,125 (GRCm39)	I49N	probably damaging	Het
Shank3	C	A	15: 89,387,562 (GRCm39)	L244I	probably damaging	Het
Shc3	T	C	13: 51,603,302 (GRCm39)	T268A	probably benign	Het
Sp7	A	G	15: 102,267,536 (GRCm39)	L90P	probably damaging	Het
Tacc2	G	A	7: 130,225,271 (GRCm39)	S652N	probably damaging	Het
Tacstd2	A	G	6: 67,512,128 (GRCm39)	V188A	possibly damaging	Het
Tasor	G	A	14: 27,171,818 (GRCm39)		probably null	Het
Tex26	T	C	5: 149,376,820 (GRCm39)	S70P	probably benign	Het
Tmc4	C	T	7: 3,675,006 (GRCm39)	V222M	probably benign	Het
Tnc	T	C	4: 63,926,066 (GRCm39)	T905A	possibly damaging	Het
Trim65	G	A	11: 116,018,435 (GRCm39)	Q253*	probably null	Het
Tuba3a	A	T	6: 125,258,506 (GRCm39)	Y161*	probably null	Het
Zfand2b	A	G	1: 75,147,330 (GRCm39)	S197G	possibly damaging	Het
Zfp109	T	A	7: 23,928,771 (GRCm39)	T213S	probably benign	Het
Zfp985	A	C	4: 147,668,368 (GRCm39)	D412A	probably benign	Het
Zswim3	T	A	2: 164,662,563 (GRCm39)	C348S	probably benign	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
R2496:Hpse2	UTSW	19	43,001,482 (GRCm39)	critical splice donor site	probably null
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
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'- AGGCAGATGTGGGCTCATC -3'
(R):5'- GTATGGAACTAAAGGACCTTCAGG -3'

Sequencing Primer
(F):5'- GCTCATCTGGATGCCACACTAG -3'
(R):5'- GTAGACATTGTCCGGAGT -3'

Posted On

2015-07-21