Mutagenetix > Incidental Mutation

Incidental Mutation 'R8845:Hpse'

674644

Institutional Source

Beutler Lab

Gene Symbol

Hpse

Ensembl Gene

ENSMUSG00000035273

Gene Name

heparanase

Synonyms

Hpa

MMRRC Submission

068734-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8845 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100827350-100867582 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100859248 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 99 (D99G)

Ref Sequence

ENSEMBL: ENSMUSP00000044072 (fasta)

Gene Model

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

AlphaFold

Q6YGZ1

Predicted Effect

probably benign
Transcript: ENSMUST00000045617
AA Change: D99G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000044072
Gene: ENSMUSG00000035273
AA Change: D99G

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

probably benign
Transcript: ENSMUST00000112908
AA Change: D99G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000108529
Gene: ENSMUSG00000035273
AA Change: D99G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	C	T	7: 119,846,428 (GRCm39)	P627S	probably benign	Het
Abca4	G	A	3: 121,930,651 (GRCm39)	V1383M	probably damaging	Het
Acer3	A	G	7: 97,910,832 (GRCm39)	S77P	probably damaging	Het
Adgrv1	G	T	13: 81,629,478 (GRCm39)	T3640N	possibly damaging	Het
Agmo	T	C	12: 37,294,364 (GRCm39)	L104P	probably benign	Het
Alox12	C	A	11: 70,137,877 (GRCm39)	G421V	probably damaging	Het
Atad2	A	G	15: 57,989,532 (GRCm39)	V182A	probably damaging	Het
Bnc2	C	T	4: 84,194,338 (GRCm39)	A929T	possibly damaging	Het
Bola3	T	C	6: 83,335,154 (GRCm39)	M83T	probably damaging	Het
Brca2	T	C	5: 150,466,847 (GRCm39)	F2204L	possibly damaging	Het
Cachd1	T	C	4: 100,810,343 (GRCm39)	V315A	probably benign	Het
Ccdc154	C	A	17: 25,390,138 (GRCm39)	N547K	probably damaging	Het
Ccdc62	C	A	5: 124,092,470 (GRCm39)	T485K	probably benign	Het
Cdc40	G	A	10: 40,717,790 (GRCm39)	T371I	possibly damaging	Het
Cep112	T	C	11: 108,461,193 (GRCm39)	F657L	probably damaging	Het
Cirbp	A	G	10: 80,005,931 (GRCm39)	D62G	probably damaging	Het
Cntf	A	C	19: 12,741,664 (GRCm39)	S65R	probably benign	Het
Cxxc4	CGGC	CGGCGGGGGC	3: 133,945,912 (GRCm39)		probably benign	Het
Cyfip1	G	T	7: 55,579,834 (GRCm39)	G1229V	probably benign	Het
Cyp4a30b	A	C	4: 115,315,493 (GRCm39)	N238T	probably benign	Het
Dbx2	G	A	15: 95,552,517 (GRCm39)	R43C	probably benign	Het
Efcab3	A	T	11: 104,899,787 (GRCm39)	I4350F	possibly damaging	Het
Fbxw13	G	T	9: 109,023,833 (GRCm39)	F70L	possibly damaging	Het
Fhod3	A	G	18: 25,265,976 (GRCm39)	T1555A	probably damaging	Het
Fnbp4	A	G	2: 90,606,368 (GRCm39)	M763V	probably benign	Het
Gdf7	A	G	12: 8,348,905 (GRCm39)	S131P	unknown	Het
Gm9938	A	T	19: 23,701,941 (GRCm39)	E93V	unknown	Het
Golim4	A	T	3: 75,802,272 (GRCm39)	M340K	probably damaging	Het
Gphn	A	G	12: 78,538,953 (GRCm39)	S200G	probably benign	Het
Iqgap2	A	T	13: 95,794,392 (GRCm39)	N1193K	possibly damaging	Het
Jag2	A	T	12: 112,883,714 (GRCm39)	C256S	probably damaging	Het
Ldb3	T	C	14: 34,258,634 (GRCm39)	Y657C	probably damaging	Het
Lmtk2	T	A	5: 144,110,704 (GRCm39)	Y475N	probably damaging	Het
Mep1b	A	T	18: 21,230,379 (GRCm39)	K644*	probably null	Het
Muc4	A	C	16: 32,576,889 (GRCm39)	T60P	possibly damaging	Het
Nckap5	G	T	1: 125,909,423 (GRCm39)	Q1603K	possibly damaging	Het
Npy6r	C	T	18: 44,408,606 (GRCm39)	T9I	probably benign	Het
Nsd2	T	C	5: 34,039,885 (GRCm39)	C846R	probably damaging	Het
Oard1	A	C	17: 48,721,259 (GRCm39)	K64Q	probably benign	Het
Or4c103	T	A	2: 88,513,735 (GRCm39)	I114F	possibly damaging	Het
Or52e19b	A	T	7: 103,032,357 (GRCm39)	V284D	probably damaging	Het
Or5w8	G	T	2: 87,687,545 (GRCm39)	V9L	probably benign	Het
Or6c208	A	G	10: 129,224,065 (GRCm39)	T188A	probably damaging	Het
Pkhd1l1	T	G	15: 44,368,650 (GRCm39)	S823A	probably benign	Het
Pla2r1	A	G	2: 60,259,053 (GRCm39)	S1112P	possibly damaging	Het
Plekho2	T	C	9: 65,465,963 (GRCm39)	T142A	probably damaging	Het
Prr35	A	T	17: 26,165,823 (GRCm39)	V488E	probably benign	Het
Prrc2b	T	A	2: 32,102,105 (GRCm39)	M726K	possibly damaging	Het
Prrc2b	A	T	2: 32,106,162 (GRCm39)	K1514I	possibly damaging	Het
Rin1	A	T	19: 5,104,947 (GRCm39)	D669V	probably damaging	Het
Setd1b	C	T	5: 123,282,310 (GRCm39)	A146V	unknown	Het
Sigmar1	G	A	4: 41,741,234 (GRCm39)	R7W	probably damaging	Het
Slain1	C	T	14: 103,925,747 (GRCm39)	T365I	possibly damaging	Het
Slc38a2	G	A	15: 96,592,900 (GRCm39)	T186I	probably benign	Het
Tas2r130	A	T	6: 131,607,642 (GRCm39)	V51E	probably benign	Het
Tgfb1i1	A	T	7: 127,851,690 (GRCm39)	H332L	possibly damaging	Het
Trav7n-4	T	C	14: 53,328,846 (GRCm39)	L15S	probably damaging	Het
Ttc28	T	C	5: 111,372,041 (GRCm39)	V861A	probably benign	Het
Ttn	A	G	2: 76,632,658 (GRCm39)	I14132T	probably damaging	Het
Ttn	T	C	2: 76,606,380 (GRCm39)	E18143G	probably damaging	Het
Vmn1r203	C	T	13: 22,708,720 (GRCm39)	S167L	possibly damaging	Het
Vmn2r108	A	T	17: 20,691,361 (GRCm39)	H387Q	probably benign	Het
Vps33a	A	T	5: 123,709,538 (GRCm39)		probably null	Het
Vps50	G	A	6: 3,504,926 (GRCm39)	V31I	probably benign	Het
Wdcp	A	G	12: 4,901,439 (GRCm39)	T432A	probably benign	Het
Wdr36	T	A	18: 32,994,098 (GRCm39)	Y645*	probably null	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
R0082:Hpse	UTSW	5	100,840,128 (GRCm39)	missense	possibly damaging	0.93
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
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'- GCACACCATGTCTGAGATGC -3'
(R):5'- GGAACTGTTCACCTCTGCTC -3'

Sequencing Primer
(F):5'- CACACCATGTCTGAGATGCTCTATAG -3'
(R):5'- TTCAGGGCAAGCCTAGACTACTTG -3'

Posted On

2021-07-15