Incidental Mutation 'R4381:Pdgfc'
| ID |
325321 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdgfc
|
| Ensembl Gene |
ENSMUSG00000028019 |
| Gene Name |
platelet-derived growth factor, C polypeptide |
| Synonyms |
PDGF-C, 1110064L01Rik |
| MMRRC Submission |
041122-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4381 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
80943723-81121347 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 81116558 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 304
(K304R)
|
| 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: K304R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029652
Gene: ENSMUSG00000028019
AA Change: K304R
| 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 |
|
| Meta Mutation Damage Score |
0.4261 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
| Validation Efficiency |
95% (41/43) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk1 |
C |
T |
3: 127,523,022 (GRCm39) |
V7M |
probably damaging |
Het |
| Dlgap2 |
A |
G |
8: 14,896,502 (GRCm39) |
I993V |
probably benign |
Het |
| Dst |
T |
C |
1: 34,202,316 (GRCm39) |
S215P |
probably damaging |
Het |
| Eml5 |
A |
G |
12: 98,782,214 (GRCm39) |
I1359T |
possibly damaging |
Het |
| Eps15 |
G |
A |
4: 109,223,727 (GRCm39) |
|
probably benign |
Het |
| Gpr158 |
T |
A |
2: 21,832,403 (GRCm39) |
W1168R |
probably damaging |
Het |
| Ighv1-62-1 |
T |
A |
12: 115,350,613 (GRCm39) |
H18L |
probably benign |
Het |
| Il18r1 |
A |
G |
1: 40,510,950 (GRCm39) |
I12V |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Mib2 |
G |
C |
4: 155,742,069 (GRCm39) |
A234G |
possibly damaging |
Het |
| Mtpap |
T |
C |
18: 4,383,223 (GRCm39) |
F200S |
probably benign |
Het |
| Nacad |
T |
A |
11: 6,550,204 (GRCm39) |
T996S |
probably benign |
Het |
| Nek9 |
T |
A |
12: 85,376,632 (GRCm39) |
T250S |
probably damaging |
Het |
| Nif3l1 |
A |
C |
1: 58,494,738 (GRCm39) |
|
probably benign |
Het |
| Nipbl |
A |
G |
15: 8,388,690 (GRCm39) |
V310A |
probably benign |
Het |
| Or10al3 |
G |
T |
17: 38,011,790 (GRCm39) |
E76D |
probably damaging |
Het |
| Or7g34 |
A |
G |
9: 19,478,038 (GRCm39) |
L211P |
probably benign |
Het |
| Pbrm1 |
T |
C |
14: 30,747,513 (GRCm39) |
V33A |
probably benign |
Het |
| Pcdha4 |
A |
G |
18: 37,085,928 (GRCm39) |
E37G |
probably damaging |
Het |
| Peak1 |
G |
T |
9: 56,165,711 (GRCm39) |
A739E |
probably benign |
Het |
| Pla2g4c |
A |
T |
7: 13,079,990 (GRCm39) |
N433Y |
probably damaging |
Het |
| Polrmt |
A |
C |
10: 79,577,642 (GRCm39) |
L319R |
possibly damaging |
Het |
| Prkaa1 |
A |
T |
15: 5,206,289 (GRCm39) |
T373S |
probably benign |
Het |
| Qars1 |
G |
A |
9: 108,387,382 (GRCm39) |
|
probably benign |
Het |
| Ranbp1 |
G |
A |
16: 18,065,208 (GRCm39) |
L33F |
probably damaging |
Het |
| Rpgrip1 |
C |
T |
14: 52,387,906 (GRCm39) |
P1094L |
possibly damaging |
Het |
| Taf1d |
T |
A |
9: 15,223,277 (GRCm39) |
|
probably benign |
Het |
| Tstd2 |
T |
C |
4: 46,119,933 (GRCm39) |
K340E |
probably benign |
Het |
| Vmn2r45 |
A |
T |
7: 8,474,912 (GRCm39) |
C705* |
probably null |
Het |
| Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
| Zdhhc16 |
A |
G |
19: 41,929,093 (GRCm39) |
Y232C |
possibly damaging |
Het |
| Zfp1 |
T |
A |
8: 112,397,083 (GRCm39) |
L354Q |
probably damaging |
Het |
| Zyg11a |
G |
A |
4: 108,058,517 (GRCm39) |
A341V |
possibly damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTAAAACTCTACAGCTGCAC -3'
(R):5'- ATCCACTGTTCACAATGCACATTC -3'
Sequencing Primer
(F):5'- CACCCCGGAACTTCTCAGTG -3'
(R):5'- CCTTAAATGAAAGGCCCTTAAGAGTG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation