Incidental Mutation 'IGL03160:Gpc1'
| ID |
411378 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gpc1
|
| Ensembl Gene |
ENSMUSG00000034220 |
| Gene Name |
glypican 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03160
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
92759367-92787933 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 92785579 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 423
(Y423C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047199
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045970]
|
| AlphaFold |
Q9QZF2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045970
AA Change: Y423C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047199
Gene: ENSMUSG00000034220
AA Change: Y423C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glypican
|
11 |
553 |
6.2e-228 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190215
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190586
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190677
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212504
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice exhibit a reduced brain size with mild cerebellar patterning defects, but are otherwise viable and fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actbl2 |
T |
C |
13: 111,392,462 (GRCm39) |
S266P |
probably benign |
Het |
| Agrn |
A |
T |
4: 156,254,820 (GRCm39) |
F1525Y |
probably damaging |
Het |
| Akap13 |
T |
C |
7: 75,380,165 (GRCm39) |
V2165A |
probably damaging |
Het |
| Ccn6 |
T |
C |
10: 39,029,233 (GRCm39) |
T232A |
probably damaging |
Het |
| Cd109 |
G |
T |
9: 78,568,338 (GRCm39) |
|
probably null |
Het |
| Cdhr4 |
A |
C |
9: 107,873,068 (GRCm39) |
T339P |
probably benign |
Het |
| Chek1 |
T |
C |
9: 36,633,941 (GRCm39) |
H128R |
probably damaging |
Het |
| Clcn7 |
T |
A |
17: 25,365,427 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
A |
G |
11: 65,998,880 (GRCm39) |
F1056S |
probably damaging |
Het |
| Eml3 |
A |
T |
19: 8,912,319 (GRCm39) |
Q372L |
probably benign |
Het |
| Fam161b |
T |
C |
12: 84,400,599 (GRCm39) |
T458A |
probably benign |
Het |
| Fbxo3 |
T |
A |
2: 103,860,692 (GRCm39) |
C36* |
probably null |
Het |
| Gm28042 |
T |
A |
2: 119,866,309 (GRCm39) |
I369N |
possibly damaging |
Het |
| Heatr5a |
A |
G |
12: 51,931,279 (GRCm39) |
|
probably benign |
Het |
| Hectd4 |
A |
T |
5: 121,397,942 (GRCm39) |
Y290F |
probably benign |
Het |
| Ifi207 |
T |
C |
1: 173,562,670 (GRCm39) |
|
probably benign |
Het |
| Kndc1 |
A |
T |
7: 139,500,605 (GRCm39) |
K657* |
probably null |
Het |
| Lama5 |
T |
C |
2: 179,822,128 (GRCm39) |
T2927A |
probably damaging |
Het |
| Lepr |
A |
T |
4: 101,622,103 (GRCm39) |
N345I |
probably damaging |
Het |
| Mtbp |
T |
C |
15: 55,484,013 (GRCm39) |
|
probably benign |
Het |
| Muc1 |
G |
A |
3: 89,140,331 (GRCm39) |
V608I |
possibly damaging |
Het |
| Or56a3 |
A |
G |
7: 104,735,520 (GRCm39) |
N199S |
probably damaging |
Het |
| P2ry13 |
A |
G |
3: 59,117,496 (GRCm39) |
L94P |
probably damaging |
Het |
| Retreg3 |
G |
T |
11: 100,990,501 (GRCm39) |
Q89K |
probably benign |
Het |
| Rhoq |
A |
C |
17: 87,304,349 (GRCm39) |
Y160S |
probably damaging |
Het |
| Samd9l |
A |
T |
6: 3,374,894 (GRCm39) |
V789D |
probably damaging |
Het |
| Slc35f5 |
T |
C |
1: 125,502,472 (GRCm39) |
S275P |
probably damaging |
Het |
| Slc51a |
G |
A |
16: 32,297,568 (GRCm39) |
R110C |
probably damaging |
Het |
| Snapc1 |
T |
A |
12: 74,016,978 (GRCm39) |
H205Q |
probably damaging |
Het |
| Stard3 |
G |
T |
11: 98,269,737 (GRCm39) |
R352L |
probably damaging |
Het |
| Stat5a |
A |
G |
11: 100,752,671 (GRCm39) |
I85V |
possibly damaging |
Het |
| Tenm3 |
A |
T |
8: 49,099,453 (GRCm39) |
D117E |
probably benign |
Het |
| Tg |
T |
A |
15: 66,711,152 (GRCm39) |
C971* |
probably null |
Het |
| Tnrc6c |
T |
A |
11: 117,640,651 (GRCm39) |
|
probably benign |
Het |
| Tra2a |
C |
T |
6: 49,240,798 (GRCm39) |
V4I |
possibly damaging |
Het |
| Trim54 |
C |
T |
5: 31,289,424 (GRCm39) |
T145I |
probably damaging |
Het |
| Vmn2r75 |
T |
C |
7: 85,797,644 (GRCm39) |
D723G |
probably damaging |
Het |
| Wnk1 |
T |
C |
6: 119,903,594 (GRCm39) |
T2042A |
probably damaging |
Het |
| Zfp87 |
T |
C |
13: 67,669,392 (GRCm39) |
E18G |
probably damaging |
Het |
|
| Other mutations in Gpc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01411:Gpc1
|
APN |
1 |
92,784,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01697:Gpc1
|
APN |
1 |
92,786,132 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02282:Gpc1
|
APN |
1 |
92,785,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02930:Gpc1
|
APN |
1 |
92,785,021 (GRCm39) |
nonsense |
probably null |
|
|
PIT4514001:Gpc1
|
UTSW |
1 |
92,785,279 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0115:Gpc1
|
UTSW |
1 |
92,785,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0383:Gpc1
|
UTSW |
1 |
92,782,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0399:Gpc1
|
UTSW |
1 |
92,785,031 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0938:Gpc1
|
UTSW |
1 |
92,785,031 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0941:Gpc1
|
UTSW |
1 |
92,785,031 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0942:Gpc1
|
UTSW |
1 |
92,785,031 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2483:Gpc1
|
UTSW |
1 |
92,783,660 (GRCm39) |
missense |
probably benign |
0.35 |
|
R3749:Gpc1
|
UTSW |
1 |
92,785,304 (GRCm39) |
nonsense |
probably null |
|
|
R5033:Gpc1
|
UTSW |
1 |
92,784,751 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5154:Gpc1
|
UTSW |
1 |
92,784,751 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5362:Gpc1
|
UTSW |
1 |
92,782,615 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5626:Gpc1
|
UTSW |
1 |
92,784,841 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5693:Gpc1
|
UTSW |
1 |
92,785,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7268:Gpc1
|
UTSW |
1 |
92,786,093 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7790:Gpc1
|
UTSW |
1 |
92,781,171 (GRCm39) |
missense |
probably benign |
|
|
R7875:Gpc1
|
UTSW |
1 |
92,782,970 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9225:Gpc1
|
UTSW |
1 |
92,783,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0020:Gpc1
|
UTSW |
1 |
92,782,703 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Gpc1
|
UTSW |
1 |
92,785,208 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Posted On |
2016-08-02 |
Incidental Mutation