Incidental Mutation 'IGL02797:Gpc6'
| ID |
360007 |
| 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: 0.156)
|
| Stock # |
IGL02797
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
117162727-118213956 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 117163394 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 16
(L16R)
|
| 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: L16R
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000077893
Gene: ENSMUSG00000058571
AA Change: L16R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glypican
|
7 |
554 |
9.3e-247 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088483
AA Change: L16R
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000085835
Gene: ENSMUSG00000058571
AA Change: L16R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glypican
|
7 |
554 |
9.3e-247 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123239
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000125435
AA Change: L16R
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000120362
Gene: ENSMUSG00000058571
AA Change: L16R
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
G |
16: 20,187,214 (GRCm39) |
M924T |
probably benign |
Het |
| Afg2a |
A |
G |
3: 37,512,465 (GRCm39) |
|
probably benign |
Het |
| B3gat2 |
A |
G |
1: 23,854,360 (GRCm39) |
Y218C |
probably damaging |
Het |
| Bcs1l |
T |
C |
1: 74,629,620 (GRCm39) |
|
probably null |
Het |
| Cd109 |
T |
A |
9: 78,568,995 (GRCm39) |
I358N |
probably damaging |
Het |
| Cd276 |
T |
C |
9: 58,444,719 (GRCm39) |
D84G |
possibly damaging |
Het |
| Chsy1 |
T |
C |
7: 65,821,412 (GRCm39) |
F549S |
probably damaging |
Het |
| Clca3a2 |
T |
C |
3: 144,787,024 (GRCm39) |
N549S |
probably benign |
Het |
| Cma1 |
A |
G |
14: 56,181,271 (GRCm39) |
S32P |
possibly damaging |
Het |
| Col23a1 |
G |
A |
11: 51,452,743 (GRCm39) |
|
probably null |
Het |
| Ctps1 |
A |
T |
4: 120,420,021 (GRCm39) |
I131K |
probably benign |
Het |
| Cyp2w1 |
T |
C |
5: 139,342,628 (GRCm39) |
L441P |
probably damaging |
Het |
| Dnajc21 |
A |
G |
15: 10,461,441 (GRCm39) |
Y170H |
probably damaging |
Het |
| Eif3a |
A |
T |
19: 60,761,164 (GRCm39) |
L648Q |
probably damaging |
Het |
| Eif3l |
T |
A |
15: 78,959,477 (GRCm39) |
D6E |
probably benign |
Het |
| Fam228a |
A |
T |
12: 4,781,484 (GRCm39) |
L125Q |
probably damaging |
Het |
| Foxa2 |
A |
G |
2: 147,886,045 (GRCm39) |
C263R |
possibly damaging |
Het |
| Gm17455 |
A |
G |
10: 60,239,107 (GRCm39) |
E124G |
possibly damaging |
Het |
| Hdac9 |
A |
G |
12: 34,443,273 (GRCm39) |
|
probably benign |
Het |
| Herc3 |
A |
G |
6: 58,845,679 (GRCm39) |
N400S |
probably benign |
Het |
| Herc4 |
G |
A |
10: 63,152,586 (GRCm39) |
|
probably null |
Het |
| Il12b |
A |
G |
11: 44,301,180 (GRCm39) |
|
probably null |
Het |
| Lama4 |
A |
G |
10: 38,932,920 (GRCm39) |
R599G |
probably null |
Het |
| Lrp1b |
T |
A |
2: 41,561,069 (GRCm39) |
E286V |
|
Het |
| Mink1 |
C |
T |
11: 70,501,176 (GRCm39) |
P784S |
probably damaging |
Het |
| Musk |
T |
C |
4: 58,366,921 (GRCm39) |
F513S |
probably benign |
Het |
| Nfasc |
T |
A |
1: 132,538,186 (GRCm39) |
D474V |
probably damaging |
Het |
| Nhsl3 |
C |
T |
4: 129,117,104 (GRCm39) |
R565H |
probably damaging |
Het |
| Nos2 |
T |
G |
11: 78,831,170 (GRCm39) |
F420V |
probably damaging |
Het |
| Or52ab2 |
A |
T |
7: 102,970,058 (GRCm39) |
I147L |
probably benign |
Het |
| Pcdhb14 |
A |
G |
18: 37,582,904 (GRCm39) |
Y670C |
probably damaging |
Het |
| Polr1b |
A |
G |
2: 128,944,899 (GRCm39) |
E65G |
probably damaging |
Het |
| Ppp1r10 |
T |
G |
17: 36,238,904 (GRCm39) |
|
probably null |
Het |
| Prag1 |
C |
T |
8: 36,606,655 (GRCm39) |
R799C |
probably damaging |
Het |
| Prb1c |
T |
A |
6: 132,340,008 (GRCm39) |
|
probably null |
Het |
| Ptch1 |
T |
C |
13: 63,681,421 (GRCm39) |
N485S |
probably benign |
Het |
| Rgsl1 |
T |
C |
1: 153,683,454 (GRCm39) |
T19A |
probably damaging |
Het |
| Sgpl1 |
A |
C |
10: 60,937,507 (GRCm39) |
S507A |
probably benign |
Het |
| Sgpp2 |
A |
G |
1: 78,393,819 (GRCm39) |
D274G |
probably benign |
Het |
| Skap1 |
A |
G |
11: 96,603,843 (GRCm39) |
D211G |
possibly damaging |
Het |
| Smc3 |
A |
G |
19: 53,627,189 (GRCm39) |
T830A |
probably benign |
Het |
| Smpd2 |
G |
A |
10: 41,364,074 (GRCm39) |
T215I |
possibly damaging |
Het |
| Sntg2 |
T |
G |
12: 30,276,891 (GRCm39) |
Y387S |
possibly damaging |
Het |
| Sorl1 |
T |
G |
9: 41,948,355 (GRCm39) |
D810A |
probably damaging |
Het |
| Spop |
T |
A |
11: 95,372,909 (GRCm39) |
I217N |
probably damaging |
Het |
| Stac2 |
T |
C |
11: 97,934,345 (GRCm39) |
R120G |
possibly damaging |
Het |
| Stau1 |
A |
T |
2: 166,791,266 (GRCm39) |
*496R |
probably null |
Het |
| Tmeff2 |
C |
T |
1: 50,967,206 (GRCm39) |
R34C |
probably damaging |
Het |
| Treml2 |
C |
T |
17: 48,609,739 (GRCm39) |
A57V |
possibly damaging |
Het |
| Vmn2r15 |
T |
C |
5: 109,445,250 (GRCm39) |
D58G |
probably benign |
Het |
| Vmn2r7 |
T |
C |
3: 64,598,666 (GRCm39) |
I721M |
possibly damaging |
Het |
| Vmn2r70 |
C |
A |
7: 85,208,295 (GRCm39) |
M727I |
probably benign |
Het |
| Vwa8 |
T |
A |
14: 79,162,702 (GRCm39) |
C161S |
probably benign |
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 |
|
IGL01545:Gpc6
|
APN |
14 |
118,202,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-12-18 |
Incidental Mutation