Incidental Mutation 'R3893:Gpc5'
| ID |
310057 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpc5
|
| Ensembl Gene |
ENSMUSG00000022112 |
| Gene Name |
glypican 5 |
| Synonyms |
A230034F01Rik |
| MMRRC Submission |
040805-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3893 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
115329647-116762591 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 115607472 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 358
(M358T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135085
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022707]
[ENSMUST00000175665]
[ENSMUST00000176912]
|
| AlphaFold |
Q8CAL5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022707
AA Change: M285T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000022707
Gene: ENSMUSG00000022112
AA Change: M285T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glypican
|
9 |
572 |
1.8e-182 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175665
AA Change: M358T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000135857
Gene: ENSMUSG00000022112
AA Change: M358T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glypican
|
82 |
480 |
1.3e-142 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176912
AA Change: M358T
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000135085
Gene: ENSMUSG00000022112
AA Change: M358T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glypican
|
85 |
642 |
1.6e-174 |
PFAM |
|
| Meta Mutation Damage Score |
0.0903 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (42/42) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610303G11Rik |
A |
T |
9: 98,068,864 (GRCm39) |
|
noncoding transcript |
Het |
| Adam19 |
C |
T |
11: 46,019,665 (GRCm39) |
A455V |
probably damaging |
Het |
| Akr1c19 |
G |
A |
13: 4,288,441 (GRCm39) |
D140N |
probably damaging |
Het |
| Atoh1 |
A |
G |
6: 64,707,117 (GRCm39) |
T271A |
probably damaging |
Het |
| Atp6v0a2 |
G |
A |
5: 124,777,203 (GRCm39) |
R168Q |
probably damaging |
Het |
| B930094E09Rik |
G |
A |
18: 31,742,742 (GRCm39) |
S59N |
unknown |
Het |
| Cadps |
A |
G |
14: 12,488,883 (GRCm38) |
|
probably benign |
Het |
| Cfap69 |
A |
T |
5: 5,631,245 (GRCm39) |
V61E |
probably damaging |
Het |
| Chd5 |
A |
G |
4: 152,445,113 (GRCm39) |
R365G |
probably damaging |
Het |
| Cracdl |
T |
A |
1: 37,670,539 (GRCm39) |
M134L |
probably benign |
Het |
| Cyria |
T |
C |
12: 12,412,526 (GRCm39) |
V232A |
probably benign |
Het |
| Dnajc18 |
A |
T |
18: 35,834,048 (GRCm39) |
|
probably null |
Het |
| Fmnl1 |
T |
A |
11: 103,087,583 (GRCm39) |
|
probably benign |
Het |
| Gca |
A |
G |
2: 62,509,564 (GRCm39) |
Y89C |
probably damaging |
Het |
| Gcnt2 |
A |
G |
13: 41,013,922 (GRCm39) |
Y31C |
probably benign |
Het |
| Gem |
C |
T |
4: 11,705,889 (GRCm39) |
|
probably benign |
Het |
| Ggps1 |
T |
C |
13: 14,228,284 (GRCm39) |
K300E |
probably benign |
Het |
| Gprin3 |
T |
C |
6: 59,331,464 (GRCm39) |
Y281C |
probably benign |
Het |
| H2-M11 |
A |
G |
17: 36,857,982 (GRCm39) |
T6A |
probably benign |
Het |
| Lrp5 |
G |
A |
19: 3,662,330 (GRCm39) |
R173C |
probably damaging |
Het |
| Lrrk1 |
T |
C |
7: 65,928,268 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,380,199 (GRCm39) |
Y1298H |
probably damaging |
Het |
| Micu3 |
C |
T |
8: 40,819,265 (GRCm39) |
L315F |
probably damaging |
Het |
| Pkd1 |
G |
A |
17: 24,791,084 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
A |
T |
1: 20,382,362 (GRCm39) |
Y2596* |
probably null |
Het |
| Pnliprp2 |
A |
G |
19: 58,754,705 (GRCm39) |
S250G |
probably benign |
Het |
| Prkcq |
A |
C |
2: 11,231,782 (GRCm39) |
E35A |
probably damaging |
Het |
| Prpf8 |
C |
A |
11: 75,391,083 (GRCm39) |
S1377R |
possibly damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rsbn1l |
C |
T |
5: 21,110,838 (GRCm39) |
R500H |
probably damaging |
Het |
| Sart3 |
C |
T |
5: 113,884,697 (GRCm39) |
E636K |
probably benign |
Het |
| Skint3 |
A |
G |
4: 112,111,115 (GRCm39) |
K80R |
probably damaging |
Het |
| Slc11a1 |
G |
A |
1: 74,423,865 (GRCm39) |
A398T |
probably damaging |
Het |
| Sspo |
G |
T |
6: 48,453,505 (GRCm39) |
E2887* |
probably null |
Het |
| Tmc5 |
A |
C |
7: 118,244,592 (GRCm39) |
Y490S |
probably damaging |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Tnfsf8 |
G |
T |
4: 63,779,196 (GRCm39) |
T34K |
possibly damaging |
Het |
| Trim5 |
T |
A |
7: 103,926,042 (GRCm39) |
N173I |
probably damaging |
Het |
| Vkorc1l1 |
A |
T |
5: 130,011,112 (GRCm39) |
I109L |
probably benign |
Het |
| Vmn1r214 |
A |
G |
13: 23,218,811 (GRCm39) |
T102A |
probably benign |
Het |
| Wdr19 |
A |
G |
5: 65,385,635 (GRCm39) |
D579G |
possibly damaging |
Het |
| Zc3h6 |
A |
G |
2: 128,858,060 (GRCm39) |
Y697C |
probably damaging |
Het |
| Zfp955b |
T |
C |
17: 33,521,968 (GRCm39) |
I479T |
probably benign |
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 |
|
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 |
|
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'- TTGCAGGCGCTTAATCTGG -3'
(R):5'- CCCTACCTAGATTTTGCATTCTAAG -3'
Sequencing Primer
(F):5'- AATCTGGGCATTGAGGTCATC -3'
(R):5'- TTCTAAGAAATTAGATGGAAGGCCC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation