Incidental Mutation 'IGL01897:Pdgfc'
ID |
179440 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pdgfc
|
Ensembl Gene |
ENSMUSG00000028019 |
Gene Name |
platelet-derived growth factor, C polypeptide |
Synonyms |
PDGF-C, 1110064L01Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01897
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
80943723-81121347 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 81111639 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 198
(E198G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029652
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029652]
[ENSMUST00000129285]
[ENSMUST00000143721]
|
AlphaFold |
Q8CI19 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029652
AA Change: E198G
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000029652 Gene: ENSMUSG00000028019 AA Change: E198G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
CUB
|
46 |
163 |
2.43e-23 |
SMART |
low complexity region
|
172 |
186 |
N/A |
INTRINSIC |
low complexity region
|
231 |
242 |
N/A |
INTRINSIC |
PDGF
|
249 |
339 |
3.62e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129285
|
SMART Domains |
Protein: ENSMUSP00000118970 Gene: ENSMUSG00000028019
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143721
|
SMART Domains |
Protein: ENSMUSP00000122047 Gene: ENSMUSG00000028019
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the platelet-derived growth factor family. The four members of this family are mitogenic factors for cells of mesenchymal origin and are characterized by a core motif of eight cysteines. This gene product appears to form only homodimers. It differs from the platelet-derived growth factor alpha and beta polypeptides in having an unusual N-terminal domain, the CUB domain. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2010] PHENOTYPE: Homozygous mutation of this gene results neonatal and postnatal lethality with cleft palate, hypoplastic palatine bones, edema, blistering, and a short nasal septum with one allele or abnormal retinal pigmentation with a second allele. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr3 |
A |
G |
1: 125,346,025 (GRCm39) |
Y21H |
possibly damaging |
Het |
Adamts15 |
A |
T |
9: 30,813,448 (GRCm39) |
S906T |
probably damaging |
Het |
Brat1 |
A |
G |
5: 140,703,670 (GRCm39) |
D641G |
probably benign |
Het |
Ccdc42 |
G |
A |
11: 68,485,101 (GRCm39) |
R205H |
probably benign |
Het |
Cdadc1 |
T |
C |
14: 59,829,986 (GRCm39) |
|
probably null |
Het |
Cfi |
T |
C |
3: 129,652,034 (GRCm39) |
V235A |
probably damaging |
Het |
Ctps1 |
T |
A |
4: 120,424,476 (GRCm39) |
D46V |
probably damaging |
Het |
Cyb5d1 |
A |
T |
11: 69,284,587 (GRCm39) |
D188E |
probably benign |
Het |
Cyp19a1 |
G |
T |
9: 54,075,813 (GRCm39) |
T414N |
probably benign |
Het |
Cyp2c40 |
A |
T |
19: 39,792,217 (GRCm39) |
C242* |
probably null |
Het |
Eif3b |
A |
T |
5: 140,411,202 (GRCm39) |
T218S |
possibly damaging |
Het |
Fasn |
A |
T |
11: 120,698,765 (GRCm39) |
L2475Q |
probably damaging |
Het |
Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Heyl |
A |
T |
4: 123,140,400 (GRCm39) |
I320F |
probably damaging |
Het |
Itpr3 |
T |
A |
17: 27,330,236 (GRCm39) |
V1618E |
probably damaging |
Het |
Kif7 |
A |
T |
7: 79,350,800 (GRCm39) |
I1007N |
probably damaging |
Het |
Lat2 |
A |
G |
5: 134,635,481 (GRCm39) |
|
probably benign |
Het |
Lipm |
A |
T |
19: 34,098,708 (GRCm39) |
D394V |
probably damaging |
Het |
Lmbrd1 |
T |
A |
1: 24,782,977 (GRCm39) |
I307K |
possibly damaging |
Het |
Mief1 |
T |
C |
15: 80,132,709 (GRCm39) |
|
probably benign |
Het |
Mta2 |
C |
T |
19: 8,925,130 (GRCm39) |
Q333* |
probably null |
Het |
Neb |
T |
A |
2: 52,170,587 (GRCm39) |
E1695V |
possibly damaging |
Het |
Npc1l1 |
A |
T |
11: 6,177,879 (GRCm39) |
N510K |
probably benign |
Het |
Or5af1 |
T |
C |
11: 58,722,465 (GRCm39) |
F162L |
probably damaging |
Het |
P2rx3 |
A |
C |
2: 84,853,825 (GRCm39) |
|
probably benign |
Het |
Pkdcc |
T |
A |
17: 83,527,548 (GRCm39) |
I242N |
probably damaging |
Het |
Pkn3 |
C |
T |
2: 29,972,824 (GRCm39) |
|
probably benign |
Het |
Rcan2 |
T |
G |
17: 44,147,325 (GRCm39) |
D54E |
probably damaging |
Het |
Tmeff2 |
T |
A |
1: 51,171,369 (GRCm39) |
Y202N |
probably damaging |
Het |
Unc13c |
A |
G |
9: 73,453,309 (GRCm39) |
L1827P |
probably damaging |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Wfdc15a |
G |
T |
2: 164,041,896 (GRCm39) |
Q21K |
probably benign |
Het |
Zfp951 |
C |
A |
5: 104,963,149 (GRCm39) |
S139I |
probably benign |
Het |
|
Other mutations in Pdgfc |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01420:Pdgfc
|
APN |
3 |
81,048,750 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01467:Pdgfc
|
APN |
3 |
81,116,398 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02732:Pdgfc
|
APN |
3 |
80,944,864 (GRCm39) |
splice site |
probably benign |
|
PIT4403001:Pdgfc
|
UTSW |
3 |
81,082,268 (GRCm39) |
missense |
probably damaging |
1.00 |
R1505:Pdgfc
|
UTSW |
3 |
81,116,543 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1619:Pdgfc
|
UTSW |
3 |
81,082,194 (GRCm39) |
missense |
probably benign |
0.03 |
R1964:Pdgfc
|
UTSW |
3 |
81,082,292 (GRCm39) |
missense |
probably benign |
0.34 |
R1975:Pdgfc
|
UTSW |
3 |
81,116,552 (GRCm39) |
missense |
probably damaging |
0.99 |
R1977:Pdgfc
|
UTSW |
3 |
81,116,552 (GRCm39) |
missense |
probably damaging |
0.99 |
R3705:Pdgfc
|
UTSW |
3 |
81,111,751 (GRCm39) |
critical splice donor site |
probably null |
|
R3775:Pdgfc
|
UTSW |
3 |
81,048,858 (GRCm39) |
missense |
probably damaging |
1.00 |
R3776:Pdgfc
|
UTSW |
3 |
81,048,858 (GRCm39) |
missense |
probably damaging |
1.00 |
R4381:Pdgfc
|
UTSW |
3 |
81,116,558 (GRCm39) |
missense |
probably damaging |
1.00 |
R4504:Pdgfc
|
UTSW |
3 |
81,082,298 (GRCm39) |
missense |
probably benign |
|
R4583:Pdgfc
|
UTSW |
3 |
81,048,835 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7092:Pdgfc
|
UTSW |
3 |
81,111,659 (GRCm39) |
missense |
probably damaging |
1.00 |
R8196:Pdgfc
|
UTSW |
3 |
80,944,811 (GRCm39) |
missense |
possibly damaging |
0.57 |
R9762:Pdgfc
|
UTSW |
3 |
80,944,792 (GRCm39) |
missense |
probably benign |
0.06 |
|
Posted On |
2014-05-07 |