Incidental Mutation 'IGL01697:Gpc1'
| ID |
104311 |
| 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 # |
IGL01697
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
92759367-92787933 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 92786132 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 507
(S507F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047199
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045970]
|
| AlphaFold |
Q9QZF2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045970
AA Change: S507F
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000047199
Gene: ENSMUSG00000034220
AA Change: S507F
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430015G10Rik |
T |
A |
4: 156,203,613 (GRCm39) |
|
probably benign |
Het |
| Arid2 |
A |
C |
15: 96,259,453 (GRCm39) |
|
probably null |
Het |
| Cadm1 |
C |
A |
9: 47,761,622 (GRCm39) |
D435E |
probably damaging |
Het |
| Dagla |
A |
G |
19: 10,248,562 (GRCm39) |
F33L |
probably benign |
Het |
| Edrf1 |
A |
G |
7: 133,245,459 (GRCm39) |
H199R |
probably benign |
Het |
| F5 |
T |
A |
1: 164,021,621 (GRCm39) |
N1365K |
probably benign |
Het |
| Gipc2 |
T |
G |
3: 151,843,245 (GRCm39) |
I131L |
probably benign |
Het |
| Grid1 |
A |
G |
14: 35,031,214 (GRCm39) |
D269G |
probably benign |
Het |
| Ighv12-3 |
A |
T |
12: 114,330,573 (GRCm39) |
M1K |
probably null |
Het |
| Kif5b |
T |
C |
18: 6,226,871 (GRCm39) |
H129R |
possibly damaging |
Het |
| Lipo3 |
A |
T |
19: 33,536,965 (GRCm39) |
C252S |
probably damaging |
Het |
| Mast4 |
A |
C |
13: 102,904,401 (GRCm39) |
N645K |
probably damaging |
Het |
| Megf9 |
T |
A |
4: 70,351,709 (GRCm39) |
T471S |
possibly damaging |
Het |
| Mmrn1 |
A |
G |
6: 60,953,477 (GRCm39) |
D586G |
possibly damaging |
Het |
| Ninl |
A |
T |
2: 150,781,867 (GRCm39) |
L1206Q |
probably damaging |
Het |
| Oog2 |
T |
A |
4: 143,921,754 (GRCm39) |
N221K |
possibly damaging |
Het |
| Or13a17 |
T |
C |
7: 140,271,565 (GRCm39) |
V249A |
possibly damaging |
Het |
| Or5b96 |
T |
A |
19: 12,867,831 (GRCm39) |
T37S |
probably benign |
Het |
| Or6c8b |
C |
A |
10: 128,882,371 (GRCm39) |
C187F |
probably damaging |
Het |
| Pik3ap1 |
G |
A |
19: 41,313,018 (GRCm39) |
A365V |
probably damaging |
Het |
| Ppwd1 |
T |
C |
13: 104,356,972 (GRCm39) |
E181G |
probably benign |
Het |
| Scaf11 |
A |
C |
15: 96,321,504 (GRCm39) |
|
probably benign |
Het |
| Skic3 |
C |
T |
13: 76,276,852 (GRCm39) |
L479F |
probably benign |
Het |
| Skint7 |
T |
A |
4: 111,837,654 (GRCm39) |
|
probably benign |
Het |
| Sox14 |
T |
C |
9: 99,757,716 (GRCm39) |
I8V |
probably benign |
Het |
| Spata31f3 |
T |
A |
4: 42,874,163 (GRCm39) |
M2L |
probably benign |
Het |
| Stim1 |
A |
T |
7: 102,075,176 (GRCm39) |
|
probably benign |
Het |
| Ttll3 |
T |
C |
6: 113,376,690 (GRCm39) |
S357P |
probably benign |
Het |
| Vmn1r178 |
T |
A |
7: 23,593,114 (GRCm39) |
I54N |
probably damaging |
Het |
| Zdhhc2 |
T |
C |
8: 40,920,460 (GRCm39) |
|
probably benign |
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 |
|
IGL02282:Gpc1
|
APN |
1 |
92,785,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02930:Gpc1
|
APN |
1 |
92,785,021 (GRCm39) |
nonsense |
probably null |
|
|
IGL03160:Gpc1
|
APN |
1 |
92,785,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-01-21 |
Incidental Mutation