Mutagenetix > Incidental Mutation

Incidental Mutation 'R8932:Hpse'

690217

Institutional Source

Beutler Lab

Gene Symbol

Hpse

Ensembl Gene

ENSMUSG00000035273

Gene Name

heparanase

Synonyms

Hpa

MMRRC Submission

068776-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8932 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100827350-100867582 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100846872 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 186 (T186A)

Ref Sequence

ENSEMBL: ENSMUSP00000044072 (fasta)

Gene Model

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

AlphaFold

Q6YGZ1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045617
AA Change: T186A

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000044072
Gene: ENSMUSG00000035273
AA Change: T186A

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

possibly damaging
Transcript: ENSMUST00000112908
AA Change: T186A

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000108529
Gene: ENSMUSG00000035273
AA Change: T186A

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: 99.7%
20x: 99.0%

Validation Efficiency

100% (67/67)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	G	T	8: 44,105,192 (GRCm39)	T151K	probably benign	Het
Adnp2	C	T	18: 80,185,893 (GRCm39)	G27S	probably damaging	Het
Ank3	A	G	10: 69,660,292 (GRCm39)	M265V	probably benign	Het
Aoc1l1	G	A	6: 48,952,428 (GRCm39)	E118K	probably damaging	Het
Apoe	T	C	7: 19,430,597 (GRCm39)	D215G	possibly damaging	Het
Atp5f1b	A	G	10: 127,924,850 (GRCm39)	I438V	probably benign	Het
Bckdha	A	G	7: 25,330,436 (GRCm39)	S387P	probably damaging	Het
Camkk1	T	C	11: 72,924,734 (GRCm39)	F316L	probably damaging	Het
Carmil1	A	G	13: 24,197,179 (GRCm39)	Y158H		Het
Ccdc148	T	C	2: 58,894,054 (GRCm39)	R29G	probably benign	Het
Ccdc39	A	G	3: 33,884,274 (GRCm39)	V356A	probably benign	Het
Cdan1	G	A	2: 120,561,568 (GRCm39)	Q66*	probably null	Het
Ckap4	A	T	10: 84,364,290 (GRCm39)	S258T	probably benign	Het
Col5a2	T	C	1: 45,419,306 (GRCm39)	D1258G	probably benign	Het
Col6a1	G	A	10: 76,552,593 (GRCm39)	P431L	unknown	Het
Cplane1	A	G	15: 8,223,859 (GRCm39)	Y874C	probably damaging	Het
Csn1s2a	A	G	5: 87,933,164 (GRCm39)	I138V	probably benign	Het
Cyp19a1	C	T	9: 54,083,861 (GRCm39)	G176D	probably benign	Het
Dnah10	A	G	5: 124,878,015 (GRCm39)	E2700G	possibly damaging	Het
Eif3l	T	A	15: 78,960,006 (GRCm39)	Y23*	probably null	Het
Fam72a	A	G	1: 131,456,502 (GRCm39)	K22E	probably benign	Het
Golim4	A	G	3: 75,805,351 (GRCm39)	V258A	probably benign	Het
Gtf2ird2	C	T	5: 134,237,739 (GRCm39)	A272V	probably benign	Het
Ift140	A	T	17: 25,305,862 (GRCm39)	Q816H	probably benign	Het
Iqca1	A	T	1: 90,067,750 (GRCm39)	I167N	probably damaging	Het
Iqgap1	A	T	7: 80,401,141 (GRCm39)	F515L	probably benign	Het
Itgb4	G	A	11: 115,879,295 (GRCm39)	R558H	probably benign	Het
Kcna10	G	A	3: 107,101,419 (GRCm39)	D17N	probably damaging	Het
Kcnj16	A	G	11: 110,915,829 (GRCm39)	I164V	probably damaging	Het
Lrrc55	G	T	2: 85,026,615 (GRCm39)	N136K	probably damaging	Het
Mdm4	A	T	1: 132,940,382 (GRCm39)	M50K	probably benign	Het
Mfge8	A	G	7: 78,786,530 (GRCm39)	S290P	probably damaging	Het
Mindy4	G	A	6: 55,201,115 (GRCm39)	D267N	probably benign	Het
Mllt10	T	A	2: 18,128,617 (GRCm39)	S199R	probably benign	Het
Mms22l	T	C	4: 24,533,029 (GRCm39)	S436P	probably damaging	Het
Mpped2	A	G	2: 106,697,395 (GRCm39)	N290S	possibly damaging	Het
Mrgpra2a	A	G	7: 47,076,445 (GRCm39)	L271P	probably benign	Het
Myrf	T	A	19: 10,200,931 (GRCm39)	E247D	probably benign	Het
Ndrg3	A	G	2: 156,782,299 (GRCm39)	I189T	possibly damaging	Het
Nenf	C	T	1: 191,050,148 (GRCm39)	E48K	probably benign	Het
Nlgn2	T	A	11: 69,718,994 (GRCm39)	N232Y	probably damaging	Het
Oog2	G	T	4: 143,920,685 (GRCm39)	M39I	probably benign	Het
Or9r7	A	T	10: 129,962,631 (GRCm39)	N98K	probably benign	Het
Osbpl3	A	T	6: 50,304,371 (GRCm39)	N461K	probably benign	Het
P4ha1	A	G	10: 59,175,130 (GRCm39)	D30G	possibly damaging	Het
Pappa2	A	T	1: 158,590,762 (GRCm39)	C1631S	probably damaging	Het
Pigk	A	G	3: 152,445,871 (GRCm39)	M161V	possibly damaging	Het
Prdm1	G	T	10: 44,317,335 (GRCm39)	S496Y	probably damaging	Het
Prkg2	T	C	5: 99,095,299 (GRCm39)	N624S	possibly damaging	Het
Rgs6	A	G	12: 83,112,733 (GRCm39)	D181G	probably damaging	Het
Sbf2	A	G	7: 110,040,155 (GRCm39)		probably null	Het
Sbno2	A	C	10: 79,898,042 (GRCm39)	L728W	probably damaging	Het
Selenbp2	A	T	3: 94,609,793 (GRCm39)	I310F	probably damaging	Het
Shank3	T	A	15: 89,432,986 (GRCm39)	W1244R	possibly damaging	Het
Slc34a1	A	C	13: 24,004,184 (GRCm39)	I395L	probably benign	Het
Slf1	A	T	13: 77,194,693 (GRCm39)	D877E	probably damaging	Het
Smtn	T	C	11: 3,472,908 (GRCm39)	S255G	probably benign	Het
Tbx2	T	A	11: 85,725,533 (GRCm39)	D161E	probably damaging	Het
Tex14	C	A	11: 87,324,675 (GRCm39)	L26M	possibly damaging	Het
Traf7	A	G	17: 24,731,286 (GRCm39)	F249S	probably damaging	Het
Trpm6	A	G	19: 18,815,366 (GRCm39)	K1151E	possibly damaging	Het
Ttc7b	A	G	12: 100,268,022 (GRCm39)	V773A	probably benign	Het
Ttn	G	A	2: 76,747,912 (GRCm39)	T4379I	probably benign	Het
Ttn	G	A	2: 76,602,854 (GRCm39)	T18456I	probably damaging	Het
Ttn	G	C	2: 76,709,171 (GRCm39)	L8703V	unknown	Het
Ubb	T	A	11: 62,442,979 (GRCm39)	I3N	probably damaging	Het
Vmn1r209	A	T	13: 22,990,343 (GRCm39)	W116R	probably damaging	Het
Vmn1r75	A	G	7: 11,614,838 (GRCm39)	D190G	probably damaging	Het
Wdr12	T	A	1: 60,130,202 (GRCm39)	M70L	probably benign	Het
Wdr48	C	A	9: 119,740,142 (GRCm39)	T317K	probably damaging	Het
Zbtb5	A	G	4: 44,993,962 (GRCm39)	V474A	probably benign	Het
Zfp128	C	T	7: 12,625,113 (GRCm39)	R494C	possibly damaging	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
R8845:Hpse	UTSW	5	100,859,248 (GRCm39)	missense	probably benign
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'- TGAGGTGGAGACTGACAGAATAT -3'
(R):5'- AAGGACTGTCATTCTATTAGGAATAGA -3'

Sequencing Primer
(F):5'- GGTGGAGACTGACAGAATATAAAAAG -3'
(R):5'- ACTAAACGCTGCCTTTGG -3'

Posted On

2021-11-19