Mutagenetix > Incidental Mutation

Incidental Mutation 'R0472:Hpse2'

46857

Institutional Source

Beutler Lab

Gene Symbol

Hpse2

Ensembl Gene

ENSMUSG00000074852

Gene Name

heparanase 2

Synonyms

MMRRC Submission

038672-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.256) question?

Stock #

R0472 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42774978-43376794 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43001602 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 222 (I222M)

Ref Sequence

ENSEMBL: ENSMUSP00000097026 (fasta)

Gene Model

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

AlphaFold

B2RY83

Predicted Effect

probably damaging
Transcript: ENSMUST00000099428
AA Change: I222M

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097026
Gene: ENSMUSG00000074852
AA Change: I222M

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

Meta Mutation Damage Score

0.4301

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

97% (65/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700128F08Rik	A	G	9: 8,222,123 (GRCm39)		noncoding transcript	Het
AI182371	T	C	2: 34,975,218 (GRCm39)	N337S	probably benign	Het
Aldh3b1	C	T	19: 3,964,024 (GRCm39)	R426H	probably damaging	Het
Arap2	A	G	5: 62,864,002 (GRCm39)	F541L	probably damaging	Het
Asap2	G	T	12: 21,263,186 (GRCm39)	R267L	possibly damaging	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
Bmp8b	T	A	4: 123,015,692 (GRCm39)	D226E	probably benign	Het
C1ra	T	A	6: 124,494,403 (GRCm39)	D283E	possibly damaging	Het
Cacul1	G	T	19: 60,531,464 (GRCm39)	H268Q	probably damaging	Het
Cd9	T	C	6: 125,449,396 (GRCm39)	N49D	probably benign	Het
Cdc42bpa	A	G	1: 179,867,744 (GRCm39)	H193R	probably damaging	Het
Cep290	G	A	10: 100,387,317 (GRCm39)	G1935E	probably benign	Het
Cep350	A	T	1: 155,790,469 (GRCm39)	I1362N	probably damaging	Het
Chchd7	A	T	4: 3,943,416 (GRCm39)	N61I	possibly damaging	Het
Clca3a1	A	T	3: 144,733,106 (GRCm39)	L134Q	probably damaging	Het
Clec2j	T	C	6: 128,633,565 (GRCm39)		noncoding transcript	Het
Clvs1	G	A	4: 9,281,801 (GRCm39)	A82T	probably damaging	Het
Csn1s1	A	T	5: 87,825,486 (GRCm39)	Y231F	possibly damaging	Het
Cyp2c55	A	T	19: 39,019,823 (GRCm39)	T254S	probably benign	Het
Decr1	A	G	4: 15,919,849 (GRCm39)	S290P	probably damaging	Het
Dnai2	T	A	11: 114,636,015 (GRCm39)		probably benign	Het
Dock4	C	A	12: 40,888,437 (GRCm39)		probably benign	Het
Dst	T	C	1: 34,306,041 (GRCm39)		probably null	Het
Elmo2	A	G	2: 165,140,250 (GRCm39)	I315T	probably damaging	Het
Fcho2	A	G	13: 98,884,775 (GRCm39)	F431L	probably benign	Het
Fez2	A	G	17: 78,692,261 (GRCm39)		probably benign	Het
Gas2l3	C	T	10: 89,262,339 (GRCm39)	A128T	probably damaging	Het
Katnip	A	G	7: 125,472,139 (GRCm39)	N1548S	probably damaging	Het
Kcna2	A	G	3: 107,012,832 (GRCm39)	D471G	probably benign	Het
Kcnj13	T	A	1: 87,314,568 (GRCm39)	Y218F	probably benign	Het
Kif1a	T	C	1: 92,946,719 (GRCm39)	H1763R	probably damaging	Het
Krt1c	C	T	15: 101,721,688 (GRCm39)	R451H	probably damaging	Het
Lama2	A	G	10: 26,866,863 (GRCm39)	V2877A	probably damaging	Het
Lrrc2	A	T	9: 110,791,685 (GRCm39)	M80L	probably benign	Het
Naip6	A	G	13: 100,438,768 (GRCm39)	V343A	probably benign	Het
Nedd4l	T	C	18: 65,341,532 (GRCm39)	Y753H	probably damaging	Het
Nif3l1	A	C	1: 58,486,987 (GRCm39)	S58R	probably damaging	Het
Or51h7	A	T	7: 102,591,258 (GRCm39)	C175*	probably null	Het
Or5w20	T	A	2: 87,726,837 (GRCm39)	V98E	possibly damaging	Het
Or9r3	G	A	10: 129,948,449 (GRCm39)	S70F	probably damaging	Het
Osbpl11	C	A	16: 33,054,814 (GRCm39)	Y632*	probably null	Het
Pask	A	T	1: 93,248,639 (GRCm39)	D920E	probably benign	Het
Pclo	T	C	5: 14,731,608 (GRCm39)	V3370A	unknown	Het
Ptpn21	G	A	12: 98,670,499 (GRCm39)		probably benign	Het
Rph3al	T	C	11: 75,799,795 (GRCm39)	I55V	probably benign	Het
Rsad2	T	G	12: 26,504,167 (GRCm39)	I121L	possibly damaging	Het
Sergef	T	G	7: 46,283,170 (GRCm39)		probably benign	Het
Sp110	C	T	1: 85,516,841 (GRCm39)	E219K	possibly damaging	Het
Tas2r104	T	C	6: 131,662,434 (GRCm39)	I92V	probably benign	Het
Tasor2	A	G	13: 3,638,364 (GRCm39)	S456P	possibly damaging	Het
Tbc1d23	T	A	16: 56,993,469 (GRCm39)	I566F	possibly damaging	Het
Tbc1d9b	A	G	11: 50,059,055 (GRCm39)		probably null	Het
Tie1	T	A	4: 118,333,344 (GRCm39)	I841L	possibly damaging	Het
Tpo	A	G	12: 30,150,485 (GRCm39)	V465A	probably benign	Het
Ttll3	A	T	6: 113,386,300 (GRCm39)	Q711L	probably damaging	Het
Ttn	C	T	2: 76,783,385 (GRCm39)	R869H	probably benign	Het
Uggt2	A	G	14: 119,332,748 (GRCm39)	V62A	probably damaging	Het
Usp34	T	C	11: 23,334,509 (GRCm39)		probably benign	Het
Vmn1r17	C	A	6: 57,338,304 (GRCm39)	M20I	probably benign	Het
Vmn1r71	G	C	7: 10,482,019 (GRCm39)	S223C	possibly damaging	Het
Vmn2r120	C	T	17: 57,831,518 (GRCm39)	V424I	probably benign	Het
Vps13b	T	C	15: 35,417,779 (GRCm39)		probably null	Het
Wdfy3	C	A	5: 102,105,309 (GRCm39)	A173S	probably benign	Het
Wdr59	T	C	8: 112,213,629 (GRCm39)		probably null	Het
Ythdc2	A	T	18: 44,997,424 (GRCm39)	M994L	probably benign	Het
Zfp808	T	A	13: 62,320,120 (GRCm39)	F450I	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
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
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'- GGCAACTCGGTAGCTAAGCATCTC -3'
(R):5'- GCAGTTCCTTACTAGCAGGAAAGGC -3'

Sequencing Primer
(F):5'- CTCGGTAGCTAAGCATCTCAAATG -3'
(R):5'- CAGCCAGGTCTCTAGACAAAC -3'

Posted On

2013-06-11