Incidental Mutation 'R5639:Gpc5'
ID |
440564 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpc5
|
Ensembl Gene |
ENSMUSG00000022112 |
Gene Name |
glypican 5 |
Synonyms |
A230034F01Rik |
MMRRC Submission |
043288-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5639 (G1)
|
Quality Score |
217 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
115329647-116762591 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 115330179 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 114
(L114P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135857
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022707]
[ENSMUST00000175665]
[ENSMUST00000176912]
|
AlphaFold |
Q8CAL5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022707
AA Change: L41P
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000022707 Gene: ENSMUSG00000022112 AA Change: L41P
Domain | Start | End | E-Value | Type |
Pfam:Glypican
|
9 |
572 |
1.8e-182 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000175665
AA Change: L114P
PolyPhen 2
Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000135857 Gene: ENSMUSG00000022112 AA Change: L114P
Domain | Start | End | E-Value | Type |
Pfam:Glypican
|
82 |
480 |
1.3e-142 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176912
AA Change: L114P
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000135085 Gene: ENSMUSG00000022112 AA Change: L114P
Domain | Start | End | E-Value | Type |
Pfam:Glypican
|
85 |
642 |
1.6e-174 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176993
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars1 |
T |
C |
8: 111,769,866 (GRCm39) |
Y322H |
probably benign |
Het |
Aldh1a1 |
C |
A |
19: 20,600,786 (GRCm39) |
T201K |
probably damaging |
Het |
Ankrd26 |
T |
C |
6: 118,516,685 (GRCm39) |
E493G |
possibly damaging |
Het |
Armc8 |
A |
G |
9: 99,378,202 (GRCm39) |
|
probably null |
Het |
Bicc1 |
A |
T |
10: 70,776,350 (GRCm39) |
V701E |
probably damaging |
Het |
Car11 |
T |
A |
7: 45,352,045 (GRCm39) |
|
probably null |
Het |
Ccn1 |
A |
C |
3: 145,354,452 (GRCm39) |
V153G |
probably damaging |
Het |
Celsr1 |
C |
G |
15: 85,914,968 (GRCm39) |
V1002L |
probably damaging |
Het |
Clpx |
T |
A |
9: 65,237,112 (GRCm39) |
S597T |
probably benign |
Het |
Cplx3 |
A |
T |
9: 57,519,149 (GRCm39) |
F266I |
probably benign |
Het |
Dmpk |
A |
G |
7: 18,826,525 (GRCm39) |
M545V |
probably benign |
Het |
Dnah7c |
C |
G |
1: 46,778,828 (GRCm39) |
D3139E |
probably benign |
Het |
Drd5 |
T |
A |
5: 38,477,178 (GRCm39) |
V57D |
possibly damaging |
Het |
Epc2 |
A |
G |
2: 49,341,903 (GRCm39) |
N29S |
possibly damaging |
Het |
Ercc3 |
T |
C |
18: 32,398,767 (GRCm39) |
V682A |
probably damaging |
Het |
Fam186a |
T |
C |
15: 99,844,931 (GRCm39) |
K438E |
unknown |
Het |
Farp1 |
T |
A |
14: 121,512,794 (GRCm39) |
I764N |
probably damaging |
Het |
Flvcr2 |
A |
T |
12: 85,794,250 (GRCm39) |
I209F |
probably benign |
Het |
Fndc3b |
C |
T |
3: 27,480,302 (GRCm39) |
V1065M |
probably damaging |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Gp6 |
C |
A |
7: 4,397,130 (GRCm39) |
D102Y |
probably damaging |
Het |
Kcnq3 |
T |
A |
15: 65,869,599 (GRCm39) |
E613V |
probably damaging |
Het |
Krt74 |
T |
G |
15: 101,665,195 (GRCm39) |
|
noncoding transcript |
Het |
Lipe |
T |
C |
7: 25,082,750 (GRCm39) |
T801A |
probably benign |
Het |
Lrp1 |
A |
G |
10: 127,429,708 (GRCm39) |
V454A |
probably damaging |
Het |
Lsm14a |
T |
C |
7: 34,052,935 (GRCm39) |
D338G |
probably damaging |
Het |
Mctp1 |
T |
C |
13: 77,172,902 (GRCm39) |
|
silent |
Het |
Nlrp4a |
G |
A |
7: 26,156,455 (GRCm39) |
A727T |
probably benign |
Het |
Nrgn |
T |
C |
9: 37,457,344 (GRCm39) |
S48G |
probably benign |
Het |
Oga |
A |
G |
19: 45,765,438 (GRCm39) |
I123T |
probably damaging |
Het |
Or10k2 |
T |
C |
8: 84,267,973 (GRCm39) |
S67P |
probably damaging |
Het |
Or4a73 |
T |
C |
2: 89,421,069 (GRCm39) |
Y130C |
probably damaging |
Het |
Or51f23 |
A |
G |
7: 102,453,200 (GRCm39) |
S172G |
probably benign |
Het |
Pdia6 |
A |
G |
12: 17,328,594 (GRCm39) |
E183G |
probably benign |
Het |
Pign |
T |
A |
1: 105,517,040 (GRCm39) |
I529F |
probably benign |
Het |
Plscr5 |
A |
T |
9: 92,087,564 (GRCm39) |
K178* |
probably null |
Het |
Samm50 |
T |
G |
15: 84,098,329 (GRCm39) |
I456S |
probably benign |
Het |
Sesn1 |
A |
G |
10: 41,687,267 (GRCm39) |
R84G |
probably benign |
Het |
Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
Spag17 |
G |
T |
3: 99,963,482 (GRCm39) |
D1067Y |
probably damaging |
Het |
Sptan1 |
C |
T |
2: 29,881,005 (GRCm39) |
Q425* |
probably null |
Het |
Srrm4 |
T |
A |
5: 116,729,418 (GRCm39) |
I36F |
unknown |
Het |
Tas1r2 |
A |
T |
4: 139,387,107 (GRCm39) |
S189C |
probably damaging |
Het |
Tep1 |
A |
G |
14: 51,091,062 (GRCm39) |
V690A |
possibly damaging |
Het |
Trmo |
T |
C |
4: 46,382,073 (GRCm39) |
K348R |
probably benign |
Het |
Trmu |
T |
A |
15: 85,766,899 (GRCm39) |
M36K |
probably damaging |
Het |
Ubr4 |
A |
G |
4: 139,179,959 (GRCm39) |
T3380A |
possibly damaging |
Het |
Unc79 |
A |
C |
12: 103,137,831 (GRCm39) |
T2425P |
probably damaging |
Het |
Vmn2r12 |
G |
A |
5: 109,240,666 (GRCm39) |
T149I |
probably benign |
Het |
Vwa3a |
A |
C |
7: 120,389,366 (GRCm39) |
K68T |
probably damaging |
Het |
Yif1a |
T |
C |
19: 5,138,778 (GRCm39) |
|
probably null |
Het |
Zbtb44 |
A |
T |
9: 30,965,348 (GRCm39) |
T253S |
probably damaging |
Het |
Zdhhc3 |
T |
C |
9: 122,929,410 (GRCm39) |
Y75C |
probably damaging |
Het |
Zfp189 |
T |
A |
4: 49,530,153 (GRCm39) |
F419I |
probably benign |
Het |
Zfp663 |
T |
C |
2: 165,194,929 (GRCm39) |
D430G |
probably benign |
Het |
Zfp709 |
T |
G |
8: 72,643,835 (GRCm39) |
|
probably null |
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 |
|
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'- TCGAACCCTTGCCAGATTC -3'
(R):5'- GTGAGCACACCAAGCATTCC -3'
Sequencing Primer
(F):5'- TTGCCAGATTCCGCCACG -3'
(R):5'- ACCCCGGTTCACCTACTGG -3'
|
Posted On |
2016-11-08 |