Incidental Mutation 'IGL00419:Gpc5'
| ID |
5858 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gpc5
|
| Ensembl Gene |
ENSMUSG00000022112 |
| Gene Name |
glypican 5 |
| Synonyms |
A230034F01Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00419
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
115329647-116762591 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 115607436 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 346
(Y346C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135085
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022707]
[ENSMUST00000175665]
[ENSMUST00000176912]
|
| AlphaFold |
Q8CAL5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022707
AA Change: Y273C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022707
Gene: ENSMUSG00000022112
AA Change: Y273C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glypican
|
9 |
572 |
1.8e-182 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000175665
AA Change: Y346C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135857
Gene: ENSMUSG00000022112
AA Change: Y346C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glypican
|
82 |
480 |
1.3e-142 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176912
AA Change: Y346C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135085
Gene: ENSMUSG00000022112
AA Change: Y346C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glypican
|
85 |
642 |
1.6e-174 |
PFAM |
|
| 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]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp1a4 |
A |
C |
1: 172,067,373 (GRCm39) |
N586K |
probably damaging |
Het |
| AU040320 |
T |
C |
4: 126,686,027 (GRCm39) |
M201T |
probably benign |
Het |
| Bcap29 |
A |
T |
12: 31,680,871 (GRCm39) |
F38L |
probably benign |
Het |
| Bdkrb2 |
A |
G |
12: 105,554,562 (GRCm39) |
|
probably benign |
Het |
| Ceacam5 |
G |
T |
7: 17,493,481 (GRCm39) |
E835* |
probably null |
Het |
| Cenpp |
T |
C |
13: 49,801,132 (GRCm39) |
|
probably null |
Het |
| Clca3a2 |
A |
G |
3: 144,804,574 (GRCm39) |
V51A |
probably damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,313,951 (GRCm39) |
N1660D |
probably damaging |
Het |
| Exosc9 |
T |
C |
3: 36,607,288 (GRCm39) |
|
probably benign |
Het |
| Ezh1 |
T |
C |
11: 101,085,332 (GRCm39) |
|
probably null |
Het |
| Fbxo24 |
G |
A |
5: 137,622,563 (GRCm39) |
R68C |
probably damaging |
Het |
| Gbp9 |
T |
C |
5: 105,241,943 (GRCm39) |
I205V |
probably benign |
Het |
| Hectd1 |
A |
G |
12: 51,810,818 (GRCm39) |
Y1706H |
probably damaging |
Het |
| Igsf9b |
A |
G |
9: 27,230,951 (GRCm39) |
Y318C |
probably damaging |
Het |
| Map1a |
A |
T |
2: 121,129,508 (GRCm39) |
Q182L |
probably damaging |
Het |
| Rab11fip3 |
A |
T |
17: 26,210,783 (GRCm39) |
|
probably benign |
Het |
| Rbm20 |
G |
A |
19: 53,831,695 (GRCm39) |
R643Q |
probably damaging |
Het |
| Ros1 |
A |
T |
10: 51,967,150 (GRCm39) |
C1707S |
probably damaging |
Het |
| Rpgrip1l |
G |
T |
8: 91,990,202 (GRCm39) |
R747S |
possibly damaging |
Het |
| Rsph10b |
T |
C |
5: 143,873,905 (GRCm39) |
*166R |
probably null |
Het |
| Sft2d1 |
G |
A |
17: 8,539,437 (GRCm39) |
C80Y |
possibly damaging |
Het |
| Zdhhc14 |
T |
C |
17: 5,802,959 (GRCm39) |
|
probably benign |
Het |
| Zfp300 |
T |
A |
X: 20,948,531 (GRCm39) |
Y411F |
probably damaging |
Het |
| Zfp92 |
T |
C |
X: 72,463,764 (GRCm39) |
|
probably benign |
Het |
| Zhx1 |
A |
G |
15: 57,916,711 (GRCm39) |
F512L |
probably damaging |
Het |
|
| Other mutations in Gpc5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01298:Gpc5
|
APN |
14 |
115,636,600 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL01359:Gpc5
|
APN |
14 |
115,607,162 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL02354:Gpc5
|
APN |
14 |
115,370,699 (GRCm39) |
nonsense |
probably null |
|
|
IGL02361:Gpc5
|
APN |
14 |
115,370,699 (GRCm39) |
nonsense |
probably null |
|
|
IGL02982:Gpc5
|
APN |
14 |
115,607,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03120:Gpc5
|
APN |
14 |
115,607,556 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0322:Gpc5
|
UTSW |
14 |
115,636,563 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0396:Gpc5
|
UTSW |
14 |
115,665,620 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0555:Gpc5
|
UTSW |
14 |
115,789,740 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0629:Gpc5
|
UTSW |
14 |
115,789,651 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1536:Gpc5
|
UTSW |
14 |
115,636,662 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1660:Gpc5
|
UTSW |
14 |
115,636,691 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1676:Gpc5
|
UTSW |
14 |
115,607,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2328:Gpc5
|
UTSW |
14 |
116,025,591 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3522:Gpc5
|
UTSW |
14 |
116,761,747 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3776:Gpc5
|
UTSW |
14 |
115,607,472 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3885:Gpc5
|
UTSW |
14 |
115,607,472 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3889:Gpc5
|
UTSW |
14 |
115,607,472 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3893:Gpc5
|
UTSW |
14 |
115,607,472 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4041:Gpc5
|
UTSW |
14 |
115,370,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4517:Gpc5
|
UTSW |
14 |
115,789,651 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5068:Gpc5
|
UTSW |
14 |
115,654,676 (GRCm39) |
makesense |
probably null |
|
|
R5639:Gpc5
|
UTSW |
14 |
115,330,179 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5730:Gpc5
|
UTSW |
14 |
116,025,726 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5944:Gpc5
|
UTSW |
14 |
115,607,250 (GRCm39) |
missense |
probably benign |
0.24 |
|
R6351:Gpc5
|
UTSW |
14 |
115,636,612 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6557:Gpc5
|
UTSW |
14 |
115,329,966 (GRCm39) |
unclassified |
probably benign |
|
|
R6657:Gpc5
|
UTSW |
14 |
115,607,610 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6714:Gpc5
|
UTSW |
14 |
115,789,715 (GRCm39) |
nonsense |
probably null |
|
|
R6751:Gpc5
|
UTSW |
14 |
115,607,363 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7057:Gpc5
|
UTSW |
14 |
115,370,654 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7142:Gpc5
|
UTSW |
14 |
115,654,615 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7225:Gpc5
|
UTSW |
14 |
115,789,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7544:Gpc5
|
UTSW |
14 |
115,665,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7658:Gpc5
|
UTSW |
14 |
115,665,620 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7695:Gpc5
|
UTSW |
14 |
115,330,026 (GRCm39) |
missense |
unknown |
|
|
R7785:Gpc5
|
UTSW |
14 |
115,654,632 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8116:Gpc5
|
UTSW |
14 |
115,636,637 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8303:Gpc5
|
UTSW |
14 |
115,665,667 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8983:Gpc5
|
UTSW |
14 |
115,330,118 (GRCm39) |
missense |
unknown |
|
|
RF001:Gpc5
|
UTSW |
14 |
115,654,590 (GRCm39) |
missense |
probably benign |
0.41 |
|
RF022:Gpc5
|
UTSW |
14 |
115,789,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Gpc5
|
UTSW |
14 |
115,607,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation