Incidental Mutation 'R4255:Gpc6'
| ID |
321800 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpc6
|
| Ensembl Gene |
ENSMUSG00000058571 |
| Gene Name |
glypican 6 |
| Synonyms |
6720429C22Rik |
| MMRRC Submission |
041068-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.139)
|
| Stock # |
R4255 (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 118188553 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 396
(T396A)
|
| 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: T386A
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000077893
Gene: ENSMUSG00000058571
AA Change: T386A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glypican
|
7 |
554 |
9.3e-247 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088483
AA Change: T386A
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000085835
Gene: ENSMUSG00000058571
AA Change: T386A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glypican
|
7 |
554 |
9.3e-247 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125435
AA Change: T396A
PolyPhen 2
Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000120362
Gene: ENSMUSG00000058571
AA Change: T396A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glypican
|
15 |
564 |
7.2e-248 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183564
|
| Meta Mutation Damage Score |
0.0624 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
93% (50/54) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
C |
2: 69,136,949 (GRCm39) |
I171V |
probably benign |
Het |
| Actc1 |
T |
C |
2: 113,879,697 (GRCm39) |
N254S |
probably benign |
Het |
| Adgrg1 |
T |
G |
8: 95,732,530 (GRCm39) |
|
probably null |
Het |
| Ankrd7 |
T |
A |
6: 18,869,880 (GRCm39) |
|
probably null |
Het |
| Baz2b |
T |
C |
2: 59,750,916 (GRCm39) |
|
probably benign |
Het |
| Brca2 |
A |
G |
5: 150,464,634 (GRCm39) |
E1466G |
possibly damaging |
Het |
| Dagla |
G |
A |
19: 10,234,316 (GRCm39) |
R332* |
probably null |
Het |
| Dnah5 |
T |
A |
15: 28,438,248 (GRCm39) |
S3960T |
probably benign |
Het |
| Dnhd1 |
T |
A |
7: 105,362,205 (GRCm39) |
L3689M |
probably damaging |
Het |
| Epn1 |
T |
A |
7: 5,100,637 (GRCm39) |
L530Q |
probably damaging |
Het |
| Fgf17 |
C |
A |
14: 70,879,162 (GRCm39) |
|
probably null |
Het |
| Fgfr4 |
G |
A |
13: 55,314,064 (GRCm39) |
V593M |
probably damaging |
Het |
| Fmo4 |
A |
G |
1: 162,621,895 (GRCm39) |
C439R |
probably benign |
Het |
| Fndc3b |
T |
C |
3: 27,555,556 (GRCm39) |
K333E |
possibly damaging |
Het |
| Igkv3-2 |
T |
A |
6: 70,676,045 (GRCm39) |
V118D |
probably benign |
Het |
| Mtbp |
C |
A |
15: 55,484,081 (GRCm39) |
S470R |
possibly damaging |
Het |
| Myh8 |
A |
G |
11: 67,190,560 (GRCm39) |
D1295G |
probably benign |
Het |
| Myo1h |
T |
C |
5: 114,468,198 (GRCm39) |
I331T |
possibly damaging |
Het |
| Myo7a |
T |
G |
7: 97,721,171 (GRCm39) |
M1265L |
probably damaging |
Het |
| Or13a18 |
C |
A |
7: 140,190,500 (GRCm39) |
Y132* |
probably null |
Het |
| Or2ak7 |
A |
T |
11: 58,574,791 (GRCm39) |
I31F |
probably damaging |
Het |
| Or2o1 |
G |
A |
11: 49,051,262 (GRCm39) |
W140* |
probably null |
Het |
| Pak1ip1 |
A |
G |
13: 41,164,632 (GRCm39) |
|
probably benign |
Het |
| Pcdha11 |
A |
G |
18: 37,145,843 (GRCm39) |
T645A |
probably benign |
Het |
| Peg12 |
A |
G |
7: 62,113,479 (GRCm39) |
I206T |
possibly damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,664,158 (GRCm39) |
V140A |
probably damaging |
Het |
| Pramel29 |
T |
A |
4: 143,934,054 (GRCm39) |
D351V |
possibly damaging |
Het |
| Prrc2c |
C |
A |
1: 162,533,895 (GRCm39) |
|
probably benign |
Het |
| Ptprk |
A |
G |
10: 28,082,241 (GRCm39) |
E70G |
probably benign |
Het |
| Rabl6 |
C |
T |
2: 25,474,791 (GRCm39) |
E640K |
possibly damaging |
Het |
| Rasd2 |
G |
A |
8: 75,948,538 (GRCm39) |
E155K |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sdf4 |
A |
G |
4: 156,085,214 (GRCm39) |
H183R |
probably benign |
Het |
| Slc12a9 |
C |
T |
5: 137,319,694 (GRCm39) |
R607H |
probably damaging |
Het |
| Slc38a1 |
T |
C |
15: 96,483,431 (GRCm39) |
D299G |
probably benign |
Het |
| Slc4a10 |
A |
G |
2: 62,112,280 (GRCm39) |
N657S |
probably benign |
Het |
| Spata31d1c |
C |
G |
13: 65,183,502 (GRCm39) |
S348* |
probably null |
Het |
| Spata31d1c |
T |
C |
13: 65,183,531 (GRCm39) |
F358L |
probably benign |
Het |
| Srbd1 |
A |
T |
17: 86,410,350 (GRCm39) |
S527R |
possibly damaging |
Het |
| Stag3 |
T |
C |
5: 138,289,143 (GRCm39) |
V243A |
probably damaging |
Het |
| Tefm |
A |
T |
11: 80,031,075 (GRCm39) |
S54T |
probably damaging |
Het |
| Terf1 |
T |
C |
1: 15,875,903 (GRCm39) |
M1T |
probably null |
Het |
| Thsd7b |
G |
A |
1: 129,688,024 (GRCm39) |
S645N |
possibly damaging |
Het |
| Trmt13 |
G |
T |
3: 116,376,337 (GRCm39) |
S285* |
probably null |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ush2a |
C |
T |
1: 188,492,040 (GRCm39) |
R3110* |
probably null |
Het |
| Vnn3 |
T |
C |
10: 23,741,720 (GRCm39) |
Y342H |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTCTGGGAGGAGCAAGAG -3'
(R):5'- AGAGTCTTGCAGGGTTGAGC -3'
Sequencing Primer
(F):5'- GGGAAGTGGAGGCAGACAGC -3'
(R):5'- TGCTGTGCCCCATCAGC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation