Incidental Mutation 'IGL02388:Hpse2'
| ID |
291627 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hpse2
|
| Ensembl Gene |
ENSMUSG00000074852 |
| Gene Name |
heparanase 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.256)
|
| Stock # |
IGL02388
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
42774978-43376794 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 43282692 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 187
(V187D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097026
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099428]
|
| AlphaFold |
B2RY83 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099428
AA Change: V187D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097026
Gene: ENSMUSG00000074852
AA Change: V187D
| 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 |
|
| Validation Efficiency |
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930597O21Rik |
A |
T |
6: 66,873,097 (GRCm39) |
|
probably benign |
Het |
| Abca8a |
A |
G |
11: 109,969,641 (GRCm39) |
|
probably benign |
Het |
| Asphd1 |
A |
T |
7: 126,545,884 (GRCm39) |
|
probably benign |
Het |
| Ccdc77 |
G |
A |
6: 120,308,858 (GRCm39) |
A301V |
probably benign |
Het |
| Cep350 |
G |
T |
1: 155,829,499 (GRCm39) |
T135K |
probably benign |
Het |
| Chrna7 |
A |
T |
7: 62,757,439 (GRCm39) |
D153E |
probably damaging |
Het |
| Clec4b2 |
G |
T |
6: 123,179,187 (GRCm39) |
|
probably null |
Het |
| Cyp2c67 |
T |
C |
19: 39,631,799 (GRCm39) |
N133D |
probably benign |
Het |
| Dglucy |
T |
C |
12: 100,823,257 (GRCm39) |
I484T |
probably damaging |
Het |
| Dtna |
G |
T |
18: 23,730,571 (GRCm39) |
M319I |
probably benign |
Het |
| E2f5 |
T |
A |
3: 14,653,340 (GRCm39) |
M152K |
probably benign |
Het |
| Emsy |
A |
T |
7: 98,290,873 (GRCm39) |
M58K |
probably damaging |
Het |
| Epha1 |
A |
G |
6: 42,341,950 (GRCm39) |
Y367H |
probably damaging |
Het |
| Etv1 |
A |
G |
12: 38,831,798 (GRCm39) |
S32G |
possibly damaging |
Het |
| Fam114a1 |
A |
T |
5: 65,166,323 (GRCm39) |
|
probably benign |
Het |
| Fbxo30 |
T |
A |
10: 11,166,122 (GRCm39) |
N281K |
probably benign |
Het |
| Galnt12 |
G |
T |
4: 47,117,941 (GRCm39) |
R412L |
probably damaging |
Het |
| Gm5786 |
T |
A |
12: 59,128,382 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9845 |
T |
C |
3: 39,412,616 (GRCm39) |
|
noncoding transcript |
Het |
| Hecw2 |
A |
G |
1: 53,964,858 (GRCm39) |
V656A |
probably benign |
Het |
| Itsn2 |
T |
A |
12: 4,679,557 (GRCm39) |
M122K |
possibly damaging |
Het |
| Kcnj11 |
A |
G |
7: 45,749,213 (GRCm39) |
S37P |
probably benign |
Het |
| Kif13b |
T |
C |
14: 65,037,807 (GRCm39) |
I1491T |
probably damaging |
Het |
| Krt36 |
T |
A |
11: 99,995,990 (GRCm39) |
K145* |
probably null |
Het |
| Loxhd1 |
A |
G |
18: 77,456,833 (GRCm39) |
I499V |
probably benign |
Het |
| Map3k4 |
G |
T |
17: 12,490,497 (GRCm39) |
N311K |
probably damaging |
Het |
| Mical2 |
C |
A |
7: 111,934,620 (GRCm39) |
H880N |
probably benign |
Het |
| Myo1d |
A |
T |
11: 80,528,823 (GRCm39) |
C666* |
probably null |
Het |
| Nlrx1 |
C |
T |
9: 44,175,302 (GRCm39) |
R158H |
probably benign |
Het |
| Or10ag53 |
T |
A |
2: 87,082,295 (GRCm39) |
Y5N |
probably benign |
Het |
| Or10q1 |
C |
A |
19: 13,726,994 (GRCm39) |
H175N |
possibly damaging |
Het |
| Or13a17 |
A |
G |
7: 140,271,024 (GRCm39) |
T69A |
probably benign |
Het |
| Or1e21 |
A |
T |
11: 73,344,106 (GRCm39) |
L311I |
probably benign |
Het |
| Or4a78 |
T |
C |
2: 89,497,316 (GRCm39) |
S305G |
probably benign |
Het |
| Pdgfrl |
A |
G |
8: 41,430,094 (GRCm39) |
R154G |
probably benign |
Het |
| Pitpnb |
T |
C |
5: 111,478,699 (GRCm39) |
F7S |
possibly damaging |
Het |
| Ppm1n |
G |
A |
7: 19,013,097 (GRCm39) |
R285C |
probably damaging |
Het |
| Prdm11 |
A |
T |
2: 92,805,957 (GRCm39) |
I331N |
possibly damaging |
Het |
| Ptprb |
C |
T |
10: 116,203,426 (GRCm39) |
P2066L |
probably damaging |
Het |
| Ric8b |
T |
C |
10: 84,828,135 (GRCm39) |
|
probably benign |
Het |
| Setx |
A |
G |
2: 29,063,665 (GRCm39) |
I2320M |
probably damaging |
Het |
| Skil |
C |
A |
3: 31,165,787 (GRCm39) |
S368* |
probably null |
Het |
| Slc1a5 |
G |
T |
7: 16,519,644 (GRCm39) |
|
probably null |
Het |
| Trpm7 |
A |
C |
2: 126,661,811 (GRCm39) |
V1079G |
possibly damaging |
Het |
| Tulp1 |
A |
G |
17: 28,577,633 (GRCm39) |
F2L |
probably damaging |
Het |
| Ulbp3 |
A |
T |
10: 3,075,050 (GRCm39) |
|
noncoding transcript |
Het |
| Zbtb17 |
A |
G |
4: 141,189,224 (GRCm39) |
Y48C |
probably damaging |
Het |
| Zfp605 |
T |
A |
5: 110,275,506 (GRCm39) |
I208N |
possibly 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 |
|
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 |
|
|
R0472:Hpse2
|
UTSW |
19 |
43,001,602 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation