Incidental Mutation 'R1536:Gpc5'
ID |
169549 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpc5
|
Ensembl Gene |
ENSMUSG00000022112 |
Gene Name |
glypican 5 |
Synonyms |
A230034F01Rik |
MMRRC Submission |
039575-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1536 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
115329647-116762591 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 115636662 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 448
(N448K)
|
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: N375K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000022707 Gene: ENSMUSG00000022112 AA Change: N375K
Domain | Start | End | E-Value | Type |
Pfam:Glypican
|
9 |
572 |
1.8e-182 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000175665
AA Change: N448K
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000135857 Gene: ENSMUSG00000022112 AA Change: N448K
Domain | Start | End | E-Value | Type |
Pfam:Glypican
|
82 |
480 |
1.3e-142 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176582
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176912
AA Change: N448K
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000135085 Gene: ENSMUSG00000022112 AA Change: N448K
Domain | Start | End | E-Value | Type |
Pfam:Glypican
|
85 |
642 |
1.6e-174 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.5%
|
Validation Efficiency |
98% (59/60) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310003L06Rik |
A |
T |
5: 88,118,524 (GRCm39) |
I3F |
probably benign |
Het |
4930590J08Rik |
A |
G |
6: 91,894,016 (GRCm39) |
N211S |
probably benign |
Het |
A2ml1 |
A |
T |
6: 128,524,196 (GRCm39) |
Y1145* |
probably null |
Het |
Abca7 |
A |
G |
10: 79,850,064 (GRCm39) |
D1972G |
probably benign |
Het |
Adamts19 |
A |
T |
18: 59,185,687 (GRCm39) |
D1187V |
probably damaging |
Het |
Adcy6 |
G |
C |
15: 98,497,888 (GRCm39) |
I421M |
probably damaging |
Het |
Afap1 |
C |
A |
5: 36,131,835 (GRCm39) |
H387Q |
probably damaging |
Het |
Atp8b1 |
C |
T |
18: 64,678,335 (GRCm39) |
V854M |
probably damaging |
Het |
Auts2 |
C |
T |
5: 131,516,302 (GRCm39) |
|
probably benign |
Het |
Cbll1 |
T |
C |
12: 31,537,855 (GRCm39) |
D300G |
probably damaging |
Het |
Cd200r4 |
A |
T |
16: 44,653,412 (GRCm39) |
T61S |
possibly damaging |
Het |
Chmp4c |
G |
T |
3: 10,454,744 (GRCm39) |
V207L |
probably benign |
Het |
Cntn5 |
T |
C |
9: 9,976,321 (GRCm39) |
T413A |
possibly damaging |
Het |
Cox7a2 |
T |
A |
9: 79,665,863 (GRCm39) |
|
probably null |
Het |
Cwc27 |
A |
G |
13: 104,933,814 (GRCm39) |
L236P |
probably damaging |
Het |
Diaph1 |
A |
G |
18: 38,029,146 (GRCm39) |
|
probably null |
Het |
Dst |
T |
A |
1: 34,299,453 (GRCm39) |
|
probably benign |
Het |
Ear1 |
T |
A |
14: 44,056,583 (GRCm39) |
H95L |
probably damaging |
Het |
Enpp1 |
T |
A |
10: 24,517,732 (GRCm39) |
H898L |
probably benign |
Het |
Entpd5 |
G |
A |
12: 84,429,069 (GRCm39) |
R321* |
probably null |
Het |
Ercc6l2 |
C |
A |
13: 63,972,685 (GRCm39) |
N177K |
possibly damaging |
Het |
Ergic1 |
T |
C |
17: 26,860,680 (GRCm39) |
|
probably null |
Het |
Erich6 |
A |
T |
3: 58,534,019 (GRCm39) |
I336N |
probably benign |
Het |
Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
Galnt3 |
A |
T |
2: 65,914,550 (GRCm39) |
D622E |
probably damaging |
Het |
Gjd4 |
T |
A |
18: 9,280,569 (GRCm39) |
T170S |
probably damaging |
Het |
Gm5611 |
G |
A |
9: 16,941,903 (GRCm39) |
|
noncoding transcript |
Het |
Klra3 |
G |
C |
6: 130,310,107 (GRCm39) |
R138G |
probably benign |
Het |
Maco1 |
A |
G |
4: 134,531,818 (GRCm39) |
V617A |
probably damaging |
Het |
Man2b2 |
T |
C |
5: 36,978,271 (GRCm39) |
T338A |
probably benign |
Het |
Mbtps1 |
A |
T |
8: 120,272,864 (GRCm39) |
S94T |
probably benign |
Het |
Muc3a |
A |
T |
5: 137,244,538 (GRCm39) |
S205T |
unknown |
Het |
Nav2 |
C |
A |
7: 49,195,682 (GRCm39) |
D1019E |
probably damaging |
Het |
Neurl4 |
T |
A |
11: 69,794,252 (GRCm39) |
L236* |
probably null |
Het |
Or13c25 |
A |
G |
4: 52,911,260 (GRCm39) |
V178A |
probably benign |
Het |
Plcxd3 |
T |
C |
15: 4,546,093 (GRCm39) |
|
probably benign |
Het |
Pprc1 |
T |
C |
19: 46,059,965 (GRCm39) |
|
probably benign |
Het |
Prkaa2 |
T |
A |
4: 104,932,647 (GRCm39) |
N67I |
probably damaging |
Het |
Prom1 |
T |
A |
5: 44,175,695 (GRCm39) |
Y508F |
probably benign |
Het |
Prx |
A |
G |
7: 27,216,683 (GRCm39) |
M534V |
probably damaging |
Het |
Rps6kc1 |
C |
T |
1: 190,603,965 (GRCm39) |
R219Q |
possibly damaging |
Het |
Sbf2 |
T |
C |
7: 109,977,250 (GRCm39) |
Y628C |
probably damaging |
Het |
Slc1a2 |
A |
T |
2: 102,607,855 (GRCm39) |
D501V |
probably benign |
Het |
Spata31 |
A |
T |
13: 65,069,196 (GRCm39) |
Q448L |
probably damaging |
Het |
Stk35 |
T |
C |
2: 129,653,155 (GRCm39) |
|
probably benign |
Het |
Stxbp5 |
T |
A |
10: 9,713,836 (GRCm39) |
R234S |
probably damaging |
Het |
Tifab |
A |
G |
13: 56,324,101 (GRCm39) |
V114A |
probably benign |
Het |
Tiprl |
A |
G |
1: 165,055,975 (GRCm39) |
M49T |
probably benign |
Het |
Tlr12 |
A |
G |
4: 128,511,545 (GRCm39) |
L235P |
possibly damaging |
Het |
Trim43b |
A |
T |
9: 88,967,411 (GRCm39) |
C407* |
probably null |
Het |
Txndc17 |
C |
A |
11: 72,098,533 (GRCm39) |
F28L |
probably damaging |
Het |
Vmn2r27 |
T |
C |
6: 124,177,649 (GRCm39) |
R452G |
probably damaging |
Het |
Vmn2r3 |
T |
A |
3: 64,182,538 (GRCm39) |
D387V |
probably damaging |
Het |
Vps13b |
T |
C |
15: 35,875,712 (GRCm39) |
I2699T |
probably damaging |
Het |
Zfp944 |
G |
T |
17: 22,558,697 (GRCm39) |
Y183* |
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 |
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 |
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'- ACAGACTCACTGTCCTTTCTCAGAAGA -3'
(R):5'- tccagcccATGAGCCACTACATATT -3'
Sequencing Primer
(F):5'- ACTGGTTTATCACTCTTGGCAATG -3'
(R):5'- TGGGCCTGTTTAATGAACACA -3'
|
Posted On |
2014-04-13 |