Incidental Mutation 'R3885:Gpc5'
| ID |
308727 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpc5
|
| Ensembl Gene |
ENSMUSG00000022112 |
| Gene Name |
glypican 5 |
| Synonyms |
A230034F01Rik |
| MMRRC Submission |
040905-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3885 (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: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
95% (40/42) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak8 |
G |
A |
2: 28,623,897 (GRCm39) |
V161I |
possibly damaging |
Het |
| Ank3 |
A |
T |
10: 69,734,866 (GRCm39) |
I792F |
probably damaging |
Het |
| B930094E09Rik |
G |
A |
18: 31,742,742 (GRCm39) |
S59N |
unknown |
Het |
| Boc |
T |
C |
16: 44,307,976 (GRCm39) |
|
probably benign |
Het |
| Bptf |
G |
A |
11: 106,965,339 (GRCm39) |
T1170M |
probably damaging |
Het |
| Ccdc85a |
T |
A |
11: 28,526,677 (GRCm39) |
E310D |
probably benign |
Het |
| Cfap221 |
A |
G |
1: 119,881,876 (GRCm39) |
|
probably null |
Het |
| Dmxl1 |
T |
A |
18: 50,011,326 (GRCm39) |
M1161K |
probably damaging |
Het |
| Eif2ak1 |
A |
T |
5: 143,821,479 (GRCm39) |
Q265L |
probably benign |
Het |
| Eif2s1 |
T |
A |
12: 78,927,999 (GRCm39) |
I225N |
probably damaging |
Het |
| Ephb2 |
C |
T |
4: 136,498,345 (GRCm39) |
G245S |
probably damaging |
Het |
| Exoc4 |
T |
C |
6: 33,243,066 (GRCm39) |
|
probably null |
Het |
| Foxd2 |
T |
C |
4: 114,765,483 (GRCm39) |
H179R |
unknown |
Het |
| Gck |
T |
C |
11: 5,860,318 (GRCm39) |
Y108C |
probably damaging |
Het |
| Gjc3 |
T |
A |
5: 137,956,105 (GRCm39) |
N60I |
possibly damaging |
Het |
| Gm5145 |
A |
T |
17: 20,791,272 (GRCm39) |
T217S |
probably benign |
Het |
| Gpr150 |
T |
C |
13: 76,204,657 (GRCm39) |
Q96R |
probably damaging |
Het |
| H2ac22 |
A |
G |
13: 21,971,039 (GRCm39) |
L117P |
probably damaging |
Het |
| H2ac8 |
G |
T |
13: 23,755,053 (GRCm39) |
T77K |
possibly damaging |
Het |
| Itga2 |
A |
T |
13: 115,005,835 (GRCm39) |
H448Q |
probably benign |
Het |
| Lcor |
T |
A |
19: 41,546,795 (GRCm39) |
S126R |
probably damaging |
Het |
| Lrch2 |
C |
G |
X: 146,256,003 (GRCm39) |
A437P |
probably damaging |
Het |
| Lrriq1 |
T |
C |
10: 103,051,967 (GRCm39) |
I262V |
probably damaging |
Het |
| Mgst3 |
G |
T |
1: 167,200,131 (GRCm39) |
Q135K |
probably benign |
Het |
| Nrxn1 |
T |
A |
17: 90,930,899 (GRCm39) |
T766S |
probably damaging |
Het |
| Or11j4 |
A |
T |
14: 50,630,326 (GRCm39) |
I38F |
probably benign |
Het |
| Ovch2 |
A |
G |
7: 107,395,775 (GRCm39) |
I81T |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rictor |
A |
T |
15: 6,789,091 (GRCm39) |
N236Y |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rreb1 |
G |
T |
13: 38,077,941 (GRCm39) |
R51L |
probably damaging |
Het |
| Senp7 |
A |
G |
16: 56,006,442 (GRCm39) |
E922G |
probably damaging |
Het |
| Slc15a2 |
A |
G |
16: 36,602,666 (GRCm39) |
F65S |
probably damaging |
Het |
| Slitrk5 |
T |
A |
14: 111,917,229 (GRCm39) |
C284* |
probably null |
Het |
| Steap4 |
G |
T |
5: 8,030,494 (GRCm39) |
R450L |
probably damaging |
Het |
| Usp40 |
A |
T |
1: 87,894,991 (GRCm39) |
L843Q |
probably damaging |
Het |
| Vmn2r97 |
C |
T |
17: 19,148,596 (GRCm39) |
L164F |
possibly damaging |
Het |
| Wiz |
G |
T |
17: 32,576,012 (GRCm39) |
A798E |
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 |
|
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 |
|
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'- GCGCTTAATCTGGGCATTG -3'
(R):5'- TGTGTGTACCCTACCTAGATTTTGC -3'
Sequencing Primer
(F):5'- TTGAGGTCATCAACACCACGG -3'
(R):5'- TTCTAAGAAATTAGATGGAAGGCCC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation