Incidental Mutation 'IGL01467:Pdgfc'
| ID |
88147 |
| 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 # |
IGL01467
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
80943723-81121347 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 81116398 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 251
(T251A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029652
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029652]
[ENSMUST00000129285]
[ENSMUST00000143721]
|
| AlphaFold |
Q8CI19 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029652
AA Change: T251A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000029652
Gene: ENSMUSG00000028019
AA Change: T251A
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1a |
A |
G |
5: 121,657,791 (GRCm39) |
C501R |
probably damaging |
Het |
| Atxn1 |
C |
T |
13: 45,720,669 (GRCm39) |
V409I |
probably damaging |
Het |
| Cdkn2aip |
T |
C |
8: 48,164,247 (GRCm39) |
R489G |
probably damaging |
Het |
| Cgn |
A |
G |
3: 94,686,898 (GRCm39) |
S135P |
probably damaging |
Het |
| Cpne3 |
C |
A |
4: 19,553,737 (GRCm39) |
C98F |
probably benign |
Het |
| Cyp2c23 |
T |
C |
19: 44,003,512 (GRCm39) |
N221S |
possibly damaging |
Het |
| Dnah8 |
A |
G |
17: 30,998,890 (GRCm39) |
N3525S |
probably damaging |
Het |
| Efr3b |
T |
C |
12: 4,019,597 (GRCm39) |
E560G |
probably damaging |
Het |
| Eif2b5 |
C |
A |
16: 20,327,714 (GRCm39) |
C154* |
probably null |
Het |
| Eps8l2 |
A |
G |
7: 140,941,514 (GRCm39) |
E595G |
probably damaging |
Het |
| Gm9839 |
A |
T |
1: 32,559,032 (GRCm39) |
I350N |
probably damaging |
Het |
| Hdlbp |
A |
T |
1: 93,345,420 (GRCm39) |
|
probably benign |
Het |
| Il18rap |
A |
T |
1: 40,587,799 (GRCm39) |
I466F |
probably damaging |
Het |
| Itpr1 |
T |
A |
6: 108,465,457 (GRCm39) |
I2123N |
probably damaging |
Het |
| Jakmip2 |
A |
G |
18: 43,715,352 (GRCm39) |
I58T |
probably benign |
Het |
| Kdm2a |
A |
G |
19: 4,374,435 (GRCm39) |
S899P |
probably damaging |
Het |
| Mmp15 |
T |
A |
8: 96,092,959 (GRCm39) |
F113I |
probably benign |
Het |
| Neb |
T |
C |
2: 52,049,499 (GRCm39) |
H6448R |
possibly damaging |
Het |
| Or1j12 |
C |
T |
2: 36,342,656 (GRCm39) |
R20* |
probably null |
Het |
| Or2m13 |
T |
C |
16: 19,226,539 (GRCm39) |
T77A |
probably benign |
Het |
| Pdgfra |
T |
C |
5: 75,346,292 (GRCm39) |
|
probably null |
Het |
| Pdpk1 |
A |
G |
17: 24,307,144 (GRCm39) |
S269P |
probably damaging |
Het |
| Pip4k2c |
A |
T |
10: 127,035,498 (GRCm39) |
F347L |
probably benign |
Het |
| Platr26 |
T |
C |
2: 71,553,656 (GRCm39) |
|
noncoding transcript |
Het |
| Pnisr |
C |
T |
4: 21,874,650 (GRCm39) |
|
probably benign |
Het |
| Psma5-ps |
A |
G |
10: 85,149,986 (GRCm39) |
|
noncoding transcript |
Het |
| Rab3gap1 |
T |
A |
1: 127,858,121 (GRCm39) |
|
probably null |
Het |
| Scn10a |
C |
T |
9: 119,487,478 (GRCm39) |
V619I |
probably benign |
Het |
| Slc38a11 |
T |
A |
2: 65,147,200 (GRCm39) |
T426S |
probably benign |
Het |
| Son |
T |
C |
16: 91,454,165 (GRCm39) |
S971P |
possibly damaging |
Het |
| Stk33 |
T |
A |
7: 108,928,796 (GRCm39) |
I239L |
probably damaging |
Het |
| Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
| Tmem270 |
G |
T |
5: 134,930,815 (GRCm39) |
|
probably benign |
Het |
| Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
| Zfp750 |
A |
T |
11: 121,403,767 (GRCm39) |
C369* |
probably null |
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 |
|
IGL01897:Pdgfc
|
APN |
3 |
81,111,639 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
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 |
2013-11-18 |
Incidental Mutation