Incidental Mutation 'R4276:Gpc6'
ID |
322713 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpc6
|
Ensembl Gene |
ENSMUSG00000058571 |
Gene Name |
glypican 6 |
Synonyms |
6720429C22Rik |
MMRRC Submission |
041647-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.139)
|
Stock # |
R4276 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
117162727-118213956 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 117673328 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 195
(D195G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120362
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078849]
[ENSMUST00000088483]
[ENSMUST00000125435]
|
AlphaFold |
Q9R087 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000078849
AA Change: D195G
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000077893 Gene: ENSMUSG00000058571 AA Change: D195G
Domain | Start | End | E-Value | Type |
Pfam:Glypican
|
7 |
554 |
9.3e-247 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000088483
AA Change: D195G
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000085835 Gene: ENSMUSG00000058571 AA Change: D195G
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: D195G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000120362 Gene: ENSMUSG00000058571 AA Change: D195G
Domain | Start | End | E-Value | Type |
Pfam:Glypican
|
15 |
564 |
7.2e-248 |
PFAM |
|
Meta Mutation Damage Score |
0.1245 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
Validation Efficiency |
98% (46/47) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad8 |
C |
A |
9: 26,889,745 (GRCm39) |
Q316H |
probably null |
Het |
Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
Brix1 |
T |
C |
15: 10,481,833 (GRCm39) |
D101G |
possibly damaging |
Het |
Cfap36 |
A |
G |
11: 29,180,584 (GRCm39) |
|
probably null |
Het |
Chrnb3 |
A |
G |
8: 27,883,779 (GRCm39) |
N172S |
probably damaging |
Het |
Csnk1e |
T |
C |
15: 79,313,967 (GRCm39) |
N37S |
probably damaging |
Het |
Ern1 |
T |
C |
11: 106,298,007 (GRCm39) |
I705V |
probably benign |
Het |
Gimap8 |
T |
C |
6: 48,636,017 (GRCm39) |
M594T |
probably benign |
Het |
Gm6578 |
G |
A |
6: 12,100,187 (GRCm39) |
|
noncoding transcript |
Het |
Gpcpd1 |
T |
C |
2: 132,382,207 (GRCm39) |
K412E |
probably damaging |
Het |
Insm1 |
C |
A |
2: 146,064,888 (GRCm39) |
H235N |
probably benign |
Het |
Jmjd8 |
A |
G |
17: 26,048,787 (GRCm39) |
|
probably benign |
Het |
Kbtbd8 |
T |
C |
6: 95,103,914 (GRCm39) |
V521A |
probably damaging |
Het |
Kcna5 |
T |
C |
6: 126,510,329 (GRCm39) |
T600A |
probably damaging |
Het |
Kctd6 |
G |
C |
14: 8,222,806 (GRCm38) |
R216P |
probably damaging |
Het |
Lbx1 |
C |
A |
19: 45,223,528 (GRCm39) |
V47L |
probably benign |
Het |
Mefv |
A |
T |
16: 3,533,433 (GRCm39) |
N279K |
probably benign |
Het |
Mroh1 |
T |
G |
15: 76,278,051 (GRCm39) |
V24G |
probably damaging |
Het |
Nt5c1b |
A |
G |
12: 10,424,886 (GRCm39) |
E142G |
probably damaging |
Het |
Or4f4b |
G |
T |
2: 111,313,849 (GRCm39) |
V25L |
probably damaging |
Het |
Or8u3-ps |
G |
A |
2: 85,952,623 (GRCm39) |
A119T |
probably damaging |
Het |
Padi2 |
A |
G |
4: 140,663,859 (GRCm39) |
E404G |
possibly damaging |
Het |
Pitpnb |
A |
G |
5: 111,519,258 (GRCm39) |
|
probably null |
Het |
Plxna4 |
T |
C |
6: 32,177,883 (GRCm39) |
N1006S |
probably benign |
Het |
Proc |
A |
G |
18: 32,268,967 (GRCm39) |
V6A |
probably benign |
Het |
Prrc2c |
T |
A |
1: 162,501,160 (GRCm39) |
K1214N |
probably damaging |
Het |
Pstpip2 |
A |
G |
18: 77,949,556 (GRCm39) |
I122V |
probably benign |
Het |
Pus10 |
A |
G |
11: 23,656,895 (GRCm39) |
E207G |
probably damaging |
Het |
Rabl2 |
G |
A |
15: 89,468,391 (GRCm39) |
|
probably benign |
Het |
Rbp3 |
G |
A |
14: 33,680,607 (GRCm39) |
V1070I |
probably benign |
Het |
Rtl6 |
T |
A |
15: 84,441,397 (GRCm39) |
|
probably benign |
Het |
Scn7a |
T |
G |
2: 66,514,407 (GRCm39) |
K1122N |
probably damaging |
Het |
Spag16 |
A |
G |
1: 69,912,640 (GRCm39) |
|
probably benign |
Het |
Spata13 |
C |
T |
14: 60,993,745 (GRCm39) |
R396C |
probably damaging |
Het |
Stmn4 |
A |
T |
14: 66,593,166 (GRCm39) |
|
probably benign |
Het |
Syp |
G |
T |
X: 7,504,931 (GRCm39) |
|
probably benign |
Het |
Tmem260 |
C |
T |
14: 48,715,093 (GRCm39) |
T249M |
probably damaging |
Het |
Tnrc6b |
A |
G |
15: 80,786,172 (GRCm39) |
I1239V |
probably benign |
Het |
Ubr3 |
C |
T |
2: 69,768,731 (GRCm39) |
Q510* |
probably null |
Het |
Vegfa |
A |
G |
17: 46,342,392 (GRCm39) |
V142A |
probably benign |
Het |
Vmn2r93 |
T |
C |
17: 18,525,092 (GRCm39) |
I250T |
possibly 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 |
IGL01545:Gpc6
|
APN |
14 |
118,202,242 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCAGGACCTCTTCACTGAG -3'
(R):5'- ATGGCTTGGCATTCCTTTACAAAG -3'
Sequencing Primer
(F):5'- GGACCTCTTCACTGAGCTAAAG -3'
(R):5'- ATCACTGGGATTGAGAATTTTTGCC -3'
|
Posted On |
2015-06-20 |