Incidental Mutation 'IGL01545:Gpc6'
ID |
90279 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gpc6
|
Ensembl Gene |
ENSMUSG00000058571 |
Gene Name |
glypican 6 |
Synonyms |
6720429C22Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.139)
|
Stock # |
IGL01545
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
117162727-118213956 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 118202242 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Arginine
at position 484
(L484R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120362
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078849]
[ENSMUST00000088483]
[ENSMUST00000125435]
|
AlphaFold |
Q9R087 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000078849
AA Change: L474R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000077893 Gene: ENSMUSG00000058571 AA Change: L474R
Domain | Start | End | E-Value | Type |
Pfam:Glypican
|
7 |
554 |
9.3e-247 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000088483
AA Change: L474R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000085835 Gene: ENSMUSG00000058571 AA Change: L474R
Domain | Start | End | E-Value | Type |
Pfam:Glypican
|
7 |
554 |
9.3e-247 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000125435
AA Change: L484R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000120362 Gene: ENSMUSG00000058571 AA Change: L484R
Domain | Start | End | E-Value | Type |
Pfam:Glypican
|
15 |
564 |
7.2e-248 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The glypicans comprise a family of glycosylphosphatidylinositol-anchored heparan sulfate proteoglycans, and they have been implicated in the control of cell growth and cell division. The glypican encoded by this gene is a putative cell surface coreceptor for growth factors, extracellular matrix proteins, proteases and anti-proteases. Mutations in this gene are associated with omodysplasia 1. [provided by RefSeq, Nov 2016] PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, decreased fetal weight, short long bones, small skull, small snout, cleft palate and decreased chondrocyte proliferation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930505A04Rik |
G |
A |
11: 30,376,228 (GRCm39) |
S213L |
probably benign |
Het |
Adgrv1 |
A |
G |
13: 81,614,303 (GRCm39) |
I4030T |
possibly damaging |
Het |
Ap4b1 |
G |
A |
3: 103,720,143 (GRCm39) |
R55H |
probably benign |
Het |
Arap3 |
G |
A |
18: 38,123,889 (GRCm39) |
R377C |
probably damaging |
Het |
Atp6v1h |
T |
A |
1: 5,159,282 (GRCm39) |
M55K |
probably benign |
Het |
B3galt4 |
A |
C |
17: 34,170,187 (GRCm39) |
V17G |
probably benign |
Het |
Cd79a |
A |
T |
7: 24,600,691 (GRCm39) |
M172L |
probably benign |
Het |
Cry1 |
A |
T |
10: 85,020,226 (GRCm39) |
L37H |
possibly damaging |
Het |
D5Ertd615e |
A |
T |
5: 45,326,755 (GRCm39) |
|
noncoding transcript |
Het |
Dnah17 |
A |
T |
11: 118,010,394 (GRCm39) |
L308Q |
probably damaging |
Het |
Dnah7a |
C |
T |
1: 53,557,941 (GRCm39) |
A2158T |
probably benign |
Het |
Dusp2 |
A |
G |
2: 127,179,695 (GRCm39) |
T313A |
probably benign |
Het |
Fam110c |
T |
C |
12: 31,124,982 (GRCm39) |
S315P |
probably damaging |
Het |
Fcer2a |
G |
A |
8: 3,733,598 (GRCm39) |
R198* |
probably null |
Het |
Fryl |
G |
A |
5: 73,211,940 (GRCm39) |
T2359M |
probably damaging |
Het |
Gm14221 |
G |
A |
2: 160,410,303 (GRCm39) |
|
noncoding transcript |
Het |
Igdcc3 |
G |
A |
9: 65,087,355 (GRCm39) |
V298M |
probably damaging |
Het |
Impg2 |
T |
A |
16: 56,046,080 (GRCm39) |
|
probably benign |
Het |
Iqca1 |
T |
A |
1: 89,973,364 (GRCm39) |
M803L |
probably benign |
Het |
Itga4 |
T |
C |
2: 79,146,314 (GRCm39) |
|
probably benign |
Het |
Katnip |
A |
G |
7: 125,352,143 (GRCm39) |
|
probably null |
Het |
Kidins220 |
T |
C |
12: 25,090,459 (GRCm39) |
F1141S |
possibly damaging |
Het |
Kif7 |
A |
G |
7: 79,352,026 (GRCm39) |
I912T |
probably damaging |
Het |
Klhl38 |
G |
A |
15: 58,185,854 (GRCm39) |
R292W |
probably damaging |
Het |
Lama3 |
A |
G |
18: 12,574,188 (GRCm39) |
D590G |
probably benign |
Het |
Map4k4 |
T |
C |
1: 40,053,389 (GRCm39) |
|
probably benign |
Het |
Mbd4 |
A |
T |
6: 115,827,758 (GRCm39) |
D39E |
probably damaging |
Het |
Mrm2 |
A |
G |
5: 140,317,010 (GRCm39) |
V8A |
probably benign |
Het |
Myod1 |
A |
T |
7: 46,026,539 (GRCm39) |
E148V |
probably damaging |
Het |
Or5d47 |
A |
C |
2: 87,804,895 (GRCm39) |
I38S |
probably benign |
Het |
Pdcd10 |
A |
T |
3: 75,448,475 (GRCm39) |
F30I |
possibly damaging |
Het |
Ptcd1 |
T |
A |
5: 145,096,346 (GRCm39) |
H249L |
probably damaging |
Het |
Ptcd3 |
A |
T |
6: 71,865,561 (GRCm39) |
D451E |
probably benign |
Het |
Rab44 |
C |
A |
17: 29,366,351 (GRCm39) |
S680R |
unknown |
Het |
Rad21l |
A |
T |
2: 151,497,084 (GRCm39) |
D340E |
probably benign |
Het |
Ranbp2 |
T |
C |
10: 58,314,703 (GRCm39) |
F1808L |
possibly damaging |
Het |
Rnf122 |
T |
C |
8: 31,618,630 (GRCm39) |
V126A |
probably damaging |
Het |
Slc25a47 |
G |
T |
12: 108,820,142 (GRCm39) |
V49L |
probably benign |
Het |
Slc36a2 |
T |
C |
11: 55,075,633 (GRCm39) |
|
probably null |
Het |
Sorl1 |
G |
A |
9: 41,955,252 (GRCm39) |
R668W |
probably damaging |
Het |
Tbx19 |
T |
A |
1: 164,966,725 (GRCm39) |
N383I |
possibly damaging |
Het |
Tenm4 |
A |
G |
7: 96,523,510 (GRCm39) |
H1676R |
probably benign |
Het |
Tgm5 |
G |
T |
2: 120,883,289 (GRCm39) |
R351S |
probably damaging |
Het |
Tmem106b |
A |
G |
6: 13,071,842 (GRCm39) |
S34G |
probably benign |
Het |
Trmo |
C |
T |
4: 46,386,169 (GRCm39) |
G119R |
probably damaging |
Het |
Ubr4 |
G |
A |
4: 139,170,140 (GRCm39) |
|
probably benign |
Het |
Wfdc11 |
A |
G |
2: 164,507,365 (GRCm39) |
|
probably null |
Het |
Xrn2 |
T |
A |
2: 146,880,099 (GRCm39) |
I474K |
probably benign |
Het |
Zfp827 |
A |
G |
8: 79,797,063 (GRCm39) |
K383R |
probably damaging |
Het |
|
Other mutations in Gpc6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00597:Gpc6
|
APN |
14 |
118,188,646 (GRCm39) |
missense |
probably benign |
0.01 |
IGL00671:Gpc6
|
APN |
14 |
117,424,199 (GRCm39) |
missense |
probably benign |
0.01 |
IGL00928:Gpc6
|
APN |
14 |
117,163,370 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL01343:Gpc6
|
APN |
14 |
117,424,224 (GRCm39) |
missense |
possibly damaging |
0.54 |
IGL02797:Gpc6
|
APN |
14 |
117,163,394 (GRCm39) |
missense |
probably damaging |
0.98 |
PIT1430001:Gpc6
|
UTSW |
14 |
118,188,594 (GRCm39) |
nonsense |
probably null |
|
R0577:Gpc6
|
UTSW |
14 |
117,673,420 (GRCm39) |
missense |
probably benign |
0.03 |
R0611:Gpc6
|
UTSW |
14 |
118,212,430 (GRCm39) |
missense |
probably null |
|
R0636:Gpc6
|
UTSW |
14 |
117,861,905 (GRCm39) |
missense |
probably benign |
0.37 |
R2152:Gpc6
|
UTSW |
14 |
117,163,504 (GRCm39) |
missense |
probably benign |
0.00 |
R2242:Gpc6
|
UTSW |
14 |
117,424,199 (GRCm39) |
missense |
probably benign |
0.01 |
R2266:Gpc6
|
UTSW |
14 |
118,125,932 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2267:Gpc6
|
UTSW |
14 |
118,125,932 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2269:Gpc6
|
UTSW |
14 |
118,125,932 (GRCm39) |
critical splice acceptor site |
probably null |
|
R3788:Gpc6
|
UTSW |
14 |
117,861,878 (GRCm39) |
missense |
probably damaging |
0.98 |
R4255:Gpc6
|
UTSW |
14 |
118,188,553 (GRCm39) |
missense |
probably benign |
0.15 |
R4276:Gpc6
|
UTSW |
14 |
117,673,328 (GRCm39) |
missense |
probably damaging |
0.99 |
R4411:Gpc6
|
UTSW |
14 |
118,188,590 (GRCm39) |
missense |
probably benign |
0.45 |
R4626:Gpc6
|
UTSW |
14 |
118,202,255 (GRCm39) |
nonsense |
probably null |
|
R4993:Gpc6
|
UTSW |
14 |
117,861,951 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5070:Gpc6
|
UTSW |
14 |
117,424,181 (GRCm39) |
missense |
probably benign |
0.01 |
R6007:Gpc6
|
UTSW |
14 |
118,188,673 (GRCm39) |
missense |
probably damaging |
1.00 |
R6058:Gpc6
|
UTSW |
14 |
118,202,182 (GRCm39) |
missense |
probably damaging |
1.00 |
R6488:Gpc6
|
UTSW |
14 |
118,202,125 (GRCm39) |
missense |
possibly damaging |
0.73 |
R6901:Gpc6
|
UTSW |
14 |
118,188,629 (GRCm39) |
missense |
possibly damaging |
0.87 |
R6981:Gpc6
|
UTSW |
14 |
117,861,960 (GRCm39) |
missense |
probably damaging |
0.98 |
R7200:Gpc6
|
UTSW |
14 |
118,202,268 (GRCm39) |
missense |
probably benign |
0.08 |
R8348:Gpc6
|
UTSW |
14 |
117,673,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R8354:Gpc6
|
UTSW |
14 |
117,163,391 (GRCm39) |
missense |
probably damaging |
0.98 |
R8413:Gpc6
|
UTSW |
14 |
118,129,761 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8454:Gpc6
|
UTSW |
14 |
117,163,391 (GRCm39) |
missense |
probably damaging |
0.98 |
R8518:Gpc6
|
UTSW |
14 |
117,163,384 (GRCm39) |
missense |
probably benign |
0.10 |
R9009:Gpc6
|
UTSW |
14 |
117,424,217 (GRCm39) |
missense |
possibly damaging |
0.84 |
R9112:Gpc6
|
UTSW |
14 |
117,424,088 (GRCm39) |
missense |
probably benign |
0.01 |
R9481:Gpc6
|
UTSW |
14 |
117,163,432 (GRCm39) |
missense |
probably benign |
|
R9762:Gpc6
|
UTSW |
14 |
118,202,258 (GRCm39) |
missense |
probably damaging |
0.98 |
R9790:Gpc6
|
UTSW |
14 |
117,163,435 (GRCm39) |
missense |
probably damaging |
0.98 |
R9791:Gpc6
|
UTSW |
14 |
117,163,435 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Posted On |
2013-12-03 |