Mutagenetix > Incidental Mutation

Incidental Mutation 'R2065:Hpse'

229071

Institutional Source

Beutler Lab

Gene Symbol

Hpse

Ensembl Gene

ENSMUSG00000035273

Gene Name

heparanase

Synonyms

Hpa

MMRRC Submission

040070-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2065 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100827350-100867582 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100846797 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 211 (S211P)

Ref Sequence

ENSEMBL: ENSMUSP00000108529 (fasta)

Gene Model

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

AlphaFold

Q6YGZ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000045617
AA Change: S211P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044072
Gene: ENSMUSG00000035273
AA Change: S211P

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 damaging
Transcript: ENSMUST00000112908
AA Change: S211P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108529
Gene: ENSMUSG00000035273
AA Change: S211P

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	T	A	X: 66,964,308 (GRCm39)	I184L	probably benign	Het
9530002B09Rik	T	A	4: 122,583,115 (GRCm39)		probably benign	Het
Adh6a	T	A	3: 138,030,998 (GRCm39)	D162E	probably benign	Het
Afap1l1	A	T	18: 61,872,193 (GRCm39)		probably null	Het
AI182371	A	G	2: 34,976,441 (GRCm39)		probably null	Het
Amy2a1	T	C	3: 113,324,217 (GRCm39)	I108V	probably benign	Het
Aox1	T	C	1: 58,098,351 (GRCm39)		probably null	Het
Ap3b2	A	G	7: 81,113,522 (GRCm39)	S896P	unknown	Het
Ascc2	A	T	11: 4,631,496 (GRCm39)	M646L	probably benign	Het
Atp11b	T	A	3: 35,893,223 (GRCm39)	Y859N	probably damaging	Het
Bag3	T	A	7: 128,147,498 (GRCm39)	V371D	probably damaging	Het
Bhmt	T	C	13: 93,754,120 (GRCm39)	Y363C	probably benign	Het
Btbd6	T	C	12: 112,941,755 (GRCm39)	Y356H	probably damaging	Het
C2cd2l	C	T	9: 44,227,632 (GRCm39)	R172Q	probably benign	Het
Ccnt1	A	T	15: 98,449,823 (GRCm39)	H156Q	probably benign	Het
Clptm1l	C	T	13: 73,755,842 (GRCm39)	Q153*	probably null	Het
Cnep1r1	G	T	8: 88,845,445 (GRCm39)		probably benign	Het
Cnksr2	A	C	X: 156,728,302 (GRCm39)	S224R	possibly damaging	Het
Cyp26b1	T	C	6: 84,553,537 (GRCm39)	M206V	probably benign	Het
Dtx2	C	T	5: 136,059,431 (GRCm39)	S493F	probably damaging	Het
Ece1	A	T	4: 137,685,393 (GRCm39)	M628L	probably benign	Het
Ehd1	T	C	19: 6,348,108 (GRCm39)	L362P	probably benign	Het
Epha1	G	T	6: 42,342,987 (GRCm39)	H187Q	probably benign	Het
Erich6b	T	C	14: 75,896,351 (GRCm39)	I79T	probably benign	Het
F7	T	A	8: 13,085,183 (GRCm39)	V403D	probably damaging	Het
Fbln7	G	T	2: 128,719,386 (GRCm39)	R61L	probably damaging	Het
Fbxo41	C	T	6: 85,455,453 (GRCm39)	W577*	probably null	Het
Fbxw28	T	C	9: 109,157,292 (GRCm39)	K319E	probably benign	Het
Fgb	C	A	3: 82,956,996 (GRCm39)	D25Y	probably benign	Het
Flg2	A	G	3: 93,109,538 (GRCm39)	E522G	unknown	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Gm12695	T	C	4: 96,657,963 (GRCm39)	T69A	probably benign	Het
Gm7361	A	T	5: 26,467,149 (GRCm39)	D256V	probably damaging	Het
Ifnb1	T	A	4: 88,440,996 (GRCm39)	I6F	possibly damaging	Het
Il2rg	A	G	X: 100,311,416 (GRCm39)	L57P	possibly damaging	Het
Invs	T	A	4: 48,396,287 (GRCm39)	L320Q	probably damaging	Het
Iqca1	T	C	1: 90,057,953 (GRCm39)	S249G	probably benign	Het
Itpr3	G	A	17: 27,317,050 (GRCm39)	M768I	probably benign	Het
Khdc1a	T	A	1: 21,421,196 (GRCm39)	M127K	probably benign	Het
Klhl42	T	A	6: 147,003,161 (GRCm39)	W312R	probably damaging	Het
L3mbtl4	C	A	17: 68,732,687 (GRCm39)	Q56K	probably benign	Het
Lce1k	G	A	3: 92,714,164 (GRCm39)	Q7*	probably null	Het
Lonp2	A	G	8: 87,392,403 (GRCm39)	T490A	probably damaging	Het
Mbd1	C	A	18: 74,409,955 (GRCm39)	T373K	probably damaging	Het
Mpp4	G	A	1: 59,182,941 (GRCm39)	P322L	possibly damaging	Het
Mrto4	T	C	4: 139,076,334 (GRCm39)	K86E	probably benign	Het
Naf1	A	G	8: 67,340,432 (GRCm39)	D414G	probably damaging	Het
Nbas	T	A	12: 13,616,158 (GRCm39)	L2232Q	probably damaging	Het
Ncr1	T	C	7: 4,341,206 (GRCm39)	F29L	probably benign	Het
Nup133	C	A	8: 124,641,314 (GRCm39)	D869Y	probably damaging	Het
Or2ab1	A	G	11: 58,488,396 (GRCm39)	N58S	probably damaging	Het
Or2ag1	T	A	7: 106,313,373 (GRCm39)	R172W	probably benign	Het
Or2d3c	T	G	7: 106,526,162 (GRCm39)	Y168S	probably damaging	Het
Or4k45	A	G	2: 111,395,057 (GRCm39)	I244T	probably damaging	Het
Or5p63	T	C	7: 107,811,547 (GRCm39)	Y63C	probably damaging	Het
Or5p73	T	A	7: 108,064,875 (GRCm39)	C115S	possibly damaging	Het
Orc2	A	G	1: 58,508,854 (GRCm39)	V431A	probably damaging	Het
Phc2	T	C	4: 128,640,929 (GRCm39)	F672S	probably damaging	Het
Pigr	G	A	1: 130,778,617 (GRCm39)	G767D	probably benign	Het
Plxnb3	T	A	X: 72,815,357 (GRCm39)	Y1845*	probably null	Het
Prl7a2	T	A	13: 27,844,870 (GRCm39)	Y172F	probably damaging	Het
Prokr1	T	C	6: 87,565,695 (GRCm39)	E50G	probably damaging	Het
Prph	A	T	15: 98,954,014 (GRCm39)	D196V	probably damaging	Het
Rapgef5	C	A	12: 117,547,739 (GRCm39)	C234*	probably null	Het
Sin3a	T	A	9: 57,018,084 (GRCm39)	D834E	possibly damaging	Het
Skint1	T	A	4: 111,882,730 (GRCm39)	V258D	probably benign	Het
Slc22a16	A	G	10: 40,461,016 (GRCm39)	I273V	possibly damaging	Het
Snx13	T	C	12: 35,188,065 (GRCm39)	M781T	possibly damaging	Het
Spag17	A	G	3: 99,920,524 (GRCm39)	I420V	probably benign	Het
Synj1	T	C	16: 90,788,537 (GRCm39)		probably null	Het
Tatdn2	A	G	6: 113,681,103 (GRCm39)	K379E	probably benign	Het
Tcaf2	T	A	6: 42,604,981 (GRCm39)	N601I	probably benign	Het
Thrap3	T	C	4: 126,069,189 (GRCm39)	Y654C	possibly damaging	Het
Tmcc1	C	CAT	6: 116,019,831 (GRCm39)		probably null	Het
Tmem132d	T	C	5: 127,861,505 (GRCm39)	D872G	probably benign	Het
Troap	T	C	15: 98,980,344 (GRCm39)	L508P	probably benign	Het
Trpd52l3	T	C	19: 29,981,362 (GRCm39)	V39A	probably benign	Het
Ttn	T	C	2: 76,544,717 (GRCm39)	N32795S	probably damaging	Het
Ubap2	C	T	4: 41,199,872 (GRCm39)	A752T	probably benign	Het
Ubr5	T	C	15: 38,041,086 (GRCm39)	D266G	probably damaging	Het
Ugt2b36	T	C	5: 87,240,100 (GRCm39)	E95G	probably benign	Het
Vmn2r120	T	A	17: 57,831,553 (GRCm39)	H412L	possibly damaging	Het
Zgrf1	T	C	3: 127,406,999 (GRCm39)	C1589R	probably 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
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
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'- GTAAGCAACACCACCAGCATTT -3'
(R):5'- CTGTCTTTTGTCTTTCAGGAAGC -3'

Sequencing Primer
(F):5'- GCAAGAAGGCCTGAGTTCATCTTC -3'
(R):5'- GAAGCTCAGTGGACATGCTCTAC -3'

Posted On

2014-09-17