Mutagenetix > Incidental Mutation

Incidental Mutation 'R6805:Hpse2'

533566

Institutional Source

Beutler Lab

Gene Symbol

Hpse2

Ensembl Gene

ENSMUSG00000074852

Gene Name

heparanase 2

Synonyms

LOC381226

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.284) question?

Stock #

R6805 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

42788947-43388311 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 43294321 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 164 (C164*)

Ref Sequence

ENSEMBL: ENSMUSP00000097026 (fasta)

Gene Model

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

AlphaFold

B2RY83

Predicted Effect

probably null
Transcript: ENSMUST00000099428
AA Change: C164*

SMART Domains

Protein: ENSMUSP00000097026
Gene: ENSMUSG00000074852
AA Change: C164*

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: 99.9%
3x: 99.7%
10x: 98.8%
20x: 97.1%

Validation Efficiency

98% (62/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,244,306	V2591A	probably benign	Het
4930407I10Rik	A	G	15: 82,062,543	T214A	possibly damaging	Het
A930009A15Rik	G	T	10: 115,579,905		probably benign	Het
Aadac	A	C	3: 60,037,336	D143A	probably benign	Het
Acot10	T	G	15: 20,665,366	T430P	probably benign	Het
Adgrb3	T	C	1: 25,826,172	T197A	possibly damaging	Het
B230118H07Rik	T	C	2: 101,566,459	K192E	probably benign	Het
Bbs1	A	G	19: 4,900,615	I200T	probably damaging	Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
Cadps	G	A	14: 12,467,103	A943V	probably damaging	Het
Cc2d2a	A	G	5: 43,681,331	E48G	probably damaging	Het
Clca1	A	T	3: 145,018,667	C211S	probably damaging	Het
Col18a1	A	G	10: 77,054,239	L1429P	probably damaging	Het
Cul2	T	G	18: 3,421,263	Y196D	probably damaging	Het
D630023F18Rik	T	C	1: 65,117,206	S43G	probably benign	Het
Ddx39	G	A	8: 83,723,137	R427Q	probably damaging	Het
Def6	A	G	17: 28,223,717	T285A	probably damaging	Het
Defb21	T	A	2: 152,574,869	D88E	probably benign	Het
Defb6	A	G	8: 19,228,101	K63R	probably benign	Het
Dnph1	T	C	17: 46,498,744	S112P	probably damaging	Het
Dock10	T	A	1: 80,586,690	I467L	probably benign	Het
Dspp	C	A	5: 104,175,850	H286Q	probably benign	Het
Eya1	T	A	1: 14,183,277	T459S	probably benign	Het
Faf1	T	C	4: 109,861,852	L385P	probably damaging	Het
Fbxw21	C	A	9: 109,157,565	R82L	probably damaging	Het
Fryl	A	G	5: 73,065,094	V2048A	probably benign	Het
Galnt5	A	T	2: 58,035,299	D864V	possibly damaging	Het
Gata6	T	G	18: 11,054,460	S130A	possibly damaging	Het
Gbf1	G	T	19: 46,262,507	R434L	probably damaging	Het
Gga3	A	G	11: 115,585,762	F709L	probably damaging	Het
Hcar1	A	G	5: 123,879,130	V166A	probably benign	Het
Hexa	T	A	9: 59,563,937	N491K	possibly damaging	Het
Ifi202b	T	C	1: 173,974,989	Y93C	probably damaging	Het
Iscu	T	A	5: 113,775,243	I79N	probably damaging	Het
Jmjd7	T	A	2: 120,031,323	Y182*	probably null	Het
Jup	A	T	11: 100,383,458	D135E	probably benign	Het
Kit	T	A	5: 75,652,808	I881N	probably damaging	Het
Llgl1	T	A	11: 60,702,865	S55T	probably benign	Het
Lonp2	G	A	8: 86,709,096	M653I	probably benign	Het
Lrp8	T	C	4: 107,854,320	Y307H	probably damaging	Het
Med13	A	T	11: 86,278,796	M1914K	possibly damaging	Het
Ms4a1	A	G	19: 11,253,173		probably null	Het
Naip1	A	G	13: 100,427,341	S439P	probably benign	Het
Nrg1	T	C	8: 31,821,264	R476G	probably damaging	Het
Olfr1129	T	A	2: 87,574,918		probably null	Het
Olfr835	G	T	9: 19,035,301	M59I	probably damaging	Het
Pds5b	T	A	5: 150,805,561		probably null	Het
Phf12	G	A	11: 78,027,373	G804R	probably damaging	Het
Pou6f2	T	C	13: 18,239,489	T234A		Het
Prune2	A	T	19: 17,120,590	I1153L	probably benign	Het
Ptprc	C	T	1: 138,067,885		probably null	Het
Qpctl	T	C	7: 19,149,154	Q11R	probably benign	Het
Rfx4	A	G	10: 84,840,228	K103E	possibly damaging	Het
Srcin1	T	A	11: 97,551,980		probably null	Het
St6galnac1	G	T	11: 116,768,944	A181D	probably damaging	Het
Stk36	T	C	1: 74,622,239	V475A	probably benign	Het
Tbc1d21	T	C	9: 58,361,288	T263A	possibly damaging	Het
Tex24	A	T	8: 27,345,000	K185N	probably damaging	Het
Tnxb	T	A	17: 34,698,153	V2174E	possibly damaging	Het
Tollip	A	G	7: 141,890,845	S57P	probably benign	Het
Zbtb49	A	G	5: 38,213,241		probably benign	Het
Zfp758	A	G	17: 22,361,669	T30A	probably benign	Het

Other mutations in Hpse2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01610:Hpse2	APN	19	43384789	missense	probably benign
IGL02315:Hpse2	APN	19	42966947	splice site	probably benign
IGL02324:Hpse2	APN	19	42931599	missense	probably damaging	1.00
IGL02328:Hpse2	APN	19	42931599	missense	probably damaging	1.00
IGL02388:Hpse2	APN	19	43294253	missense	probably damaging	1.00
IGL02977:Hpse2	APN	19	42789122	splice site	probably benign
nobility	UTSW	19	43388070	missense	probably damaging	1.00
R0147:Hpse2	UTSW	19	42931660	splice site	probably null
R0148:Hpse2	UTSW	19	42931660	splice site	probably null
R0472:Hpse2	UTSW	19	43013163	missense	probably damaging	0.99
R0892:Hpse2	UTSW	19	43388146	missense	probably benign	0.31
R1033:Hpse2	UTSW	19	42913199	missense	probably benign	0.41
R1242:Hpse2	UTSW	19	42966977	missense	probably benign	0.00
R1470:Hpse2	UTSW	19	43388253	missense	probably benign	0.03
R1470:Hpse2	UTSW	19	43388253	missense	probably benign	0.03
R1611:Hpse2	UTSW	19	42789065	missense	probably damaging	1.00
R2382:Hpse2	UTSW	19	42931622	missense	probably benign	0.04
R2496:Hpse2	UTSW	19	43013043	critical splice donor site	probably null
R2982:Hpse2	UTSW	19	43384743	missense	probably null	0.99
R4056:Hpse2	UTSW	19	43294275	missense	probably damaging	1.00
R4057:Hpse2	UTSW	19	43294275	missense	probably damaging	1.00
R4434:Hpse2	UTSW	19	43294269	missense	probably benign	0.00
R4762:Hpse2	UTSW	19	42789071	missense	possibly damaging	0.52
R4856:Hpse2	UTSW	19	42788957	missense	probably damaging	1.00
R4886:Hpse2	UTSW	19	43384764	missense	probably damaging	1.00
R5018:Hpse2	UTSW	19	43384824	missense	possibly damaging	0.57
R6289:Hpse2	UTSW	19	42788979	missense	probably null	1.00
R6382:Hpse2	UTSW	19	43388202	missense	possibly damaging	0.93
R7528:Hpse2	UTSW	19	42813024	missense	probably damaging	1.00
R7793:Hpse2	UTSW	19	43388070	missense	probably damaging	1.00
R7944:Hpse2	UTSW	19	43384809	missense	probably benign	0.05
R7945:Hpse2	UTSW	19	43384809	missense	probably benign	0.05
R9731:Hpse2	UTSW	19	42806387	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCTGGATGCCACACTAGCAG -3'
(R):5'- TGGAACTAAAGGACCTTCAGGG -3'

Sequencing Primer
(F):5'- TAGCAGGTCCCAAGCACTCG -3'
(R):5'- CTGTCATGCTGGATAAAACAA -3'

Posted On

2018-09-12