Incidental Mutation 'R4056:Hpse2'
| ID |
314272 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hpse2
|
| Ensembl Gene |
ENSMUSG00000074852 |
| Gene Name |
heparanase 2 |
| Synonyms |
|
| MMRRC Submission |
041617-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.256)
|
| Stock # |
R4056 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
42774978-43376794 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43282714 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 180
(K180E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097026
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099428]
|
| AlphaFold |
B2RY83 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099428
AA Change: K180E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000097026
Gene: ENSMUSG00000074852
AA Change: K180E
| 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 |
0.1850 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (39/39) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730455P16Rik |
T |
A |
11: 80,266,329 (GRCm39) |
|
probably benign |
Het |
| Abcf1 |
A |
G |
17: 36,270,807 (GRCm39) |
I510T |
possibly damaging |
Het |
| Adamts18 |
T |
A |
8: 114,464,212 (GRCm39) |
K749* |
probably null |
Het |
| Alms1 |
A |
G |
6: 85,564,785 (GRCm39) |
E53G |
unknown |
Het |
| Bmper |
A |
G |
9: 23,310,925 (GRCm39) |
H453R |
probably benign |
Het |
| Btg1 |
T |
A |
10: 96,454,216 (GRCm39) |
M1K |
probably null |
Het |
| Cfap91 |
A |
G |
16: 38,118,576 (GRCm39) |
V741A |
probably benign |
Het |
| Cntfr |
A |
G |
4: 41,658,900 (GRCm39) |
I277T |
probably damaging |
Het |
| Col6a4 |
C |
A |
9: 105,903,665 (GRCm39) |
R1642I |
probably damaging |
Het |
| Ctnna3 |
T |
C |
10: 64,838,347 (GRCm39) |
I808T |
probably damaging |
Het |
| Cyp1a1 |
T |
A |
9: 57,607,432 (GRCm39) |
V20D |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,961,364 (GRCm39) |
T2554A |
probably benign |
Het |
| Fcgbp |
A |
T |
7: 27,803,541 (GRCm39) |
Q1715L |
probably benign |
Het |
| Gabarapl1 |
T |
C |
6: 129,515,593 (GRCm39) |
F77S |
probably damaging |
Het |
| Gvin3 |
G |
T |
7: 106,203,216 (GRCm39) |
D9E |
possibly damaging |
Het |
| Hs3st2 |
T |
A |
7: 121,099,925 (GRCm39) |
L257Q |
probably damaging |
Het |
| Ighv1-18 |
T |
C |
12: 114,646,287 (GRCm39) |
T106A |
probably benign |
Het |
| Ints2 |
A |
C |
11: 86,133,778 (GRCm39) |
L424R |
probably damaging |
Het |
| Iqgap2 |
A |
G |
13: 95,886,541 (GRCm39) |
V114A |
probably damaging |
Het |
| Kalrn |
A |
T |
16: 34,134,579 (GRCm39) |
I401N |
probably damaging |
Het |
| Mast2 |
T |
A |
4: 116,194,698 (GRCm39) |
|
probably benign |
Het |
| Myo18a |
A |
G |
11: 77,702,839 (GRCm39) |
E5G |
possibly damaging |
Het |
| Nav3 |
A |
T |
10: 109,716,394 (GRCm39) |
|
probably null |
Het |
| Net1 |
G |
A |
13: 3,934,949 (GRCm39) |
T359I |
probably damaging |
Het |
| Pcsk9 |
T |
A |
4: 106,301,899 (GRCm39) |
H616L |
probably benign |
Het |
| Plekha5 |
G |
T |
6: 140,534,958 (GRCm39) |
V597L |
possibly damaging |
Het |
| Plekhg3 |
T |
A |
12: 76,612,021 (GRCm39) |
I374N |
probably damaging |
Het |
| Pros1 |
A |
T |
16: 62,721,008 (GRCm39) |
R188* |
probably null |
Het |
| Rhbg |
C |
T |
3: 88,150,755 (GRCm39) |
V434I |
probably damaging |
Het |
| Rims1 |
A |
G |
1: 22,363,163 (GRCm39) |
|
probably benign |
Het |
| Rxfp2 |
T |
C |
5: 149,975,098 (GRCm39) |
|
probably null |
Het |
| Sbf2 |
T |
C |
7: 110,040,673 (GRCm39) |
I385V |
probably damaging |
Het |
| Slc22a23 |
A |
C |
13: 34,482,987 (GRCm39) |
Y181* |
probably null |
Het |
| Spata31 |
T |
A |
13: 65,069,469 (GRCm39) |
V539E |
probably benign |
Het |
| Trpv5 |
G |
A |
6: 41,636,639 (GRCm39) |
R436C |
probably damaging |
Het |
| Vmn1r13 |
G |
A |
6: 57,186,970 (GRCm39) |
C43Y |
probably benign |
Het |
| Wif1 |
G |
A |
10: 120,918,099 (GRCm39) |
V156I |
probably benign |
Het |
| Zfyve16 |
T |
C |
13: 92,641,057 (GRCm39) |
N1229S |
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 |
|
|
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 |
|
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'- ATGTGGGCTCATCTGGATGC -3'
(R):5'- ATGGAACTAAAGGACCTTCAGG -3'
Sequencing Primer
(F):5'- GCTCATCTGGATGCCACACTAG -3'
(R):5'- TCTGTCATGCTGGATAAAAC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation