Incidental Mutation 'R2328:Gpc5'
| ID |
245772 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpc5
|
| Ensembl Gene |
ENSMUSG00000022112 |
| Gene Name |
glypican 5 |
| Synonyms |
A230034F01Rik |
| MMRRC Submission |
040319-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2328 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
115329647-116762591 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 116025591 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 470
(R470W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022707
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022707]
[ENSMUST00000176912]
|
| AlphaFold |
Q8CAL5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022707
AA Change: R470W
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000022707
Gene: ENSMUSG00000022112
AA Change: R470W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glypican
|
9 |
572 |
1.8e-182 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176344
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176912
AA Change: R543W
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000135085
Gene: ENSMUSG00000022112
AA Change: R543W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glypican
|
85 |
642 |
1.6e-174 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
T |
A |
4: 144,182,502 (GRCm39) |
Y322F |
probably benign |
Het |
| Abca5 |
T |
C |
11: 110,167,347 (GRCm39) |
T1490A |
probably damaging |
Het |
| Akap1 |
A |
G |
11: 88,735,870 (GRCm39) |
V264A |
possibly damaging |
Het |
| Cggbp1 |
A |
G |
16: 64,676,366 (GRCm39) |
D144G |
probably benign |
Het |
| Cubn |
C |
A |
2: 13,408,891 (GRCm39) |
G1352* |
probably null |
Het |
| Cyfip1 |
T |
A |
7: 55,544,739 (GRCm39) |
M457K |
possibly damaging |
Het |
| Dag1 |
T |
C |
9: 108,086,451 (GRCm39) |
N230S |
probably damaging |
Het |
| Dbh |
T |
C |
2: 27,055,742 (GRCm39) |
V72A |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 117,850,421 (GRCm39) |
S4218P |
probably damaging |
Het |
| Dnah8 |
A |
T |
17: 31,013,718 (GRCm39) |
I3820F |
probably damaging |
Het |
| Erbb3 |
C |
T |
10: 128,419,562 (GRCm39) |
C186Y |
probably damaging |
Het |
| Foxd1 |
T |
C |
13: 98,491,660 (GRCm39) |
I178T |
probably damaging |
Het |
| Hace1 |
G |
T |
10: 45,525,041 (GRCm39) |
R269L |
probably benign |
Het |
| Inpp5a |
A |
T |
7: 139,058,010 (GRCm39) |
K73* |
probably null |
Het |
| Or10d5j |
A |
G |
9: 39,868,196 (GRCm39) |
F24L |
possibly damaging |
Het |
| Plekhm3 |
CCTGCTGCTGCTGCTGCTGCTGCTGC |
CCTGCTGCTGCTGCTGCTGCTGC |
1: 64,976,940 (GRCm39) |
|
probably benign |
Het |
| Pzp |
T |
C |
6: 128,487,353 (GRCm39) |
I504V |
possibly damaging |
Het |
| Scgb1b19 |
T |
A |
7: 32,987,911 (GRCm39) |
C93S |
probably damaging |
Het |
| Setx |
TGTGG |
T |
2: 29,044,072 (GRCm39) |
|
probably null |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slamf6 |
G |
A |
1: 171,761,818 (GRCm39) |
V80I |
probably benign |
Het |
| Snapc3 |
T |
A |
4: 83,353,514 (GRCm39) |
Y184* |
probably null |
Het |
| Spg21 |
T |
C |
9: 65,394,155 (GRCm39) |
I284T |
possibly damaging |
Het |
| Tas2r123 |
A |
T |
6: 132,824,279 (GRCm39) |
T59S |
probably benign |
Het |
| Trip11 |
T |
G |
12: 101,845,086 (GRCm39) |
*139C |
probably null |
Het |
| Trp53inp1 |
T |
C |
4: 11,164,495 (GRCm39) |
V13A |
probably benign |
Het |
| Wtap |
C |
T |
17: 13,186,425 (GRCm39) |
R374Q |
possibly damaging |
Het |
| Ydjc |
A |
G |
16: 16,964,986 (GRCm39) |
E47G |
possibly damaging |
Het |
| Zc3h6 |
A |
G |
2: 128,835,122 (GRCm39) |
D86G |
possibly damaging |
Het |
|
| Other mutations in Gpc5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00419:Gpc5
|
APN |
14 |
115,607,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTACAAGCCAAGTAAACGGAATAGC -3'
(R):5'- GATGCTTGCACTCACAGTTTG -3'
Sequencing Primer
(F):5'- GGAATAGCCATTTTCCTCACAG -3'
(R):5'- ACAGTTTGTGATCTTCAGGGTCCTC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation