Incidental Mutation 'R6714:Gpc5'
| ID |
529272 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpc5
|
| Ensembl Gene |
ENSMUSG00000022112 |
| Gene Name |
glypican 5 |
| Synonyms |
A230034F01Rik |
| MMRRC Submission |
044832-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6714 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
115329647-116762591 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 115789715 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 530
(Q530*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135085
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022707]
[ENSMUST00000176912]
|
| AlphaFold |
Q8CAL5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022707
AA Change: Q457*
|
| SMART Domains |
Protein: ENSMUSP00000022707
Gene: ENSMUSG00000022112
AA Change: Q457*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glypican
|
9 |
572 |
1.8e-182 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176139
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000176912
AA Change: Q530*
|
| SMART Domains |
Protein: ENSMUSP00000135085
Gene: ENSMUSG00000022112
AA Change: Q530*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glypican
|
85 |
642 |
1.6e-174 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
96% (48/50) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| BC061237 |
A |
T |
14: 44,741,639 (GRCm39) |
R127S |
possibly damaging |
Het |
| Bub1 |
C |
A |
2: 127,656,652 (GRCm39) |
M463I |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,167,609 (GRCm39) |
I1794V |
possibly damaging |
Het |
| Clspn |
C |
T |
4: 126,459,561 (GRCm39) |
T320M |
probably damaging |
Het |
| Coch |
A |
C |
12: 51,649,520 (GRCm39) |
D277A |
probably damaging |
Het |
| Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
| Dnah7c |
A |
T |
1: 46,779,966 (GRCm39) |
I3223F |
probably damaging |
Het |
| E2f6 |
G |
A |
12: 16,869,003 (GRCm39) |
V109I |
probably damaging |
Het |
| Edem2 |
A |
T |
2: 155,570,809 (GRCm39) |
|
probably null |
Het |
| Efcab8 |
A |
G |
2: 153,631,130 (GRCm39) |
K187E |
probably damaging |
Het |
| Fam184a |
T |
C |
10: 53,574,979 (GRCm39) |
N210S |
probably benign |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,809,878 (GRCm39) |
I2066V |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,820,430 (GRCm39) |
T5388A |
possibly damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,579,926 (GRCm39) |
I1937K |
probably damaging |
Het |
| Hpx |
G |
A |
7: 105,244,302 (GRCm39) |
R269C |
probably damaging |
Het |
| Ice1 |
T |
C |
13: 70,763,382 (GRCm39) |
|
probably null |
Het |
| Kbtbd4 |
A |
T |
2: 90,736,183 (GRCm39) |
|
probably benign |
Het |
| Ldlrad3 |
T |
C |
2: 101,783,297 (GRCm39) |
T310A |
probably benign |
Het |
| Lrp4 |
G |
A |
2: 91,306,710 (GRCm39) |
S341N |
possibly damaging |
Het |
| Map3k3 |
T |
C |
11: 106,005,048 (GRCm39) |
V69A |
possibly damaging |
Het |
| Myh8 |
T |
C |
11: 67,197,775 (GRCm39) |
Y1881H |
probably damaging |
Het |
| Nectin4 |
A |
T |
1: 171,198,218 (GRCm39) |
|
probably benign |
Het |
| Nhsl1 |
G |
T |
10: 18,400,459 (GRCm39) |
V562L |
possibly damaging |
Het |
| Or4k5 |
A |
T |
14: 50,385,671 (GRCm39) |
I220K |
possibly damaging |
Het |
| Or6c205 |
T |
A |
10: 129,086,809 (GRCm39) |
N135K |
possibly damaging |
Het |
| Pcdhga7 |
T |
A |
18: 37,850,330 (GRCm39) |
V779E |
probably benign |
Het |
| Peg12 |
T |
A |
7: 62,113,317 (GRCm39) |
H260L |
unknown |
Het |
| Qrfpr |
A |
T |
3: 36,234,405 (GRCm39) |
M312K |
possibly damaging |
Het |
| Rbl2 |
T |
A |
8: 91,833,415 (GRCm39) |
I730N |
possibly damaging |
Het |
| Rbm39 |
G |
C |
2: 156,003,538 (GRCm39) |
L281V |
possibly damaging |
Het |
| Setd1b |
A |
G |
5: 123,295,654 (GRCm39) |
E1074G |
unknown |
Het |
| Sfr1 |
A |
G |
19: 47,723,405 (GRCm39) |
D303G |
probably damaging |
Het |
| Slc7a12 |
T |
C |
3: 14,546,380 (GRCm39) |
V175A |
probably benign |
Het |
| Slc8a1 |
A |
T |
17: 81,715,678 (GRCm39) |
L785Q |
probably damaging |
Het |
| Spdl1 |
T |
A |
11: 34,713,830 (GRCm39) |
|
probably null |
Het |
| Spg11 |
T |
C |
2: 121,926,212 (GRCm39) |
I694M |
probably damaging |
Het |
| Tasor2 |
A |
T |
13: 3,644,189 (GRCm39) |
F143L |
probably benign |
Het |
| Trpc1 |
A |
T |
9: 95,605,326 (GRCm39) |
L111Q |
probably damaging |
Het |
| Tti1 |
A |
G |
2: 157,848,971 (GRCm39) |
V756A |
possibly damaging |
Het |
| Unc93a2 |
T |
G |
17: 7,643,937 (GRCm39) |
E124A |
probably benign |
Het |
| Usp32 |
A |
T |
11: 84,917,696 (GRCm39) |
I777N |
probably damaging |
Het |
| Zbtb8b |
C |
T |
4: 129,326,776 (GRCm39) |
E97K |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,306,897 (GRCm39) |
D41G |
probably damaging |
Het |
| Zfp493 |
A |
T |
13: 67,934,499 (GRCm39) |
S151C |
probably benign |
Het |
| Zfp503 |
T |
C |
14: 22,035,825 (GRCm39) |
T364A |
probably benign |
Het |
| Zfp507 |
T |
C |
7: 35,487,152 (GRCm39) |
K772R |
probably damaging |
Het |
| Zfp804b |
T |
A |
5: 6,819,239 (GRCm39) |
M1275L |
probably benign |
Het |
| Zfp811 |
G |
A |
17: 33,016,736 (GRCm39) |
H434Y |
probably 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 |
|
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 |
|
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'- ATTCTGAAGCCAGGTGTCTC -3'
(R):5'- TTGTCACAGATGCACACTCTC -3'
Sequencing Primer
(F):5'- TCGGGGACTCTGAAGATGCTC -3'
(R):5'- TCTCCACCCATATCATTAGAACTGAG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation