Incidental Mutation 'R3775:Pdgfc'
| ID |
273538 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3775 (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 81048858 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 89
(T89A)
|
| 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: T89A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029652
Gene: ENSMUSG00000028019
AA Change: T89A
| 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 |
0.1197 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (43/43) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
A |
G |
19: 8,986,387 (GRCm39) |
E2557G |
possibly damaging |
Het |
| Arid1a |
A |
G |
4: 133,414,075 (GRCm39) |
S1248P |
unknown |
Het |
| C2cd3 |
T |
C |
7: 100,081,205 (GRCm39) |
L1327S |
probably damaging |
Het |
| Ccnh |
T |
C |
13: 85,354,243 (GRCm39) |
|
probably benign |
Het |
| Dcdc5 |
C |
A |
2: 106,202,738 (GRCm39) |
|
noncoding transcript |
Het |
| Eprs1 |
T |
C |
1: 185,105,205 (GRCm39) |
F160S |
probably damaging |
Het |
| F9 |
A |
G |
X: 59,064,345 (GRCm39) |
I190V |
probably benign |
Het |
| Fam185a |
C |
A |
5: 21,660,804 (GRCm39) |
A273D |
probably damaging |
Het |
| Fhod1 |
G |
A |
8: 106,058,270 (GRCm39) |
|
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Hipk2 |
T |
C |
6: 38,720,029 (GRCm39) |
D534G |
probably damaging |
Het |
| Ints6l |
T |
C |
X: 55,526,731 (GRCm39) |
L220S |
probably damaging |
Het |
| Kat7 |
T |
C |
11: 95,182,357 (GRCm39) |
T250A |
probably benign |
Het |
| Kif23 |
G |
A |
9: 61,832,274 (GRCm39) |
S623L |
probably benign |
Het |
| Krt32 |
A |
G |
11: 99,978,947 (GRCm39) |
C36R |
probably benign |
Het |
| Megf10 |
G |
A |
18: 57,410,177 (GRCm39) |
G653S |
probably damaging |
Het |
| Mpp3 |
G |
T |
11: 101,914,193 (GRCm39) |
S134* |
probably null |
Het |
| Msh6 |
G |
T |
17: 88,293,609 (GRCm39) |
R788L |
probably damaging |
Het |
| Mxi1 |
C |
A |
19: 53,360,160 (GRCm39) |
A294E |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,359,902 (GRCm39) |
I445V |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,359,883 (GRCm39) |
E451G |
probably benign |
Het |
| Nlrp1b |
T |
C |
11: 71,047,126 (GRCm39) |
|
probably benign |
Het |
| Npy1r |
T |
C |
8: 67,157,502 (GRCm39) |
F271L |
possibly damaging |
Het |
| Nup160 |
G |
T |
2: 90,552,420 (GRCm39) |
C1132F |
probably benign |
Het |
| Or13p3 |
C |
T |
4: 118,567,351 (GRCm39) |
T249I |
probably damaging |
Het |
| Or1o2 |
T |
A |
17: 37,543,121 (GRCm39) |
I47F |
probably damaging |
Het |
| Pcdhga5 |
A |
G |
18: 37,828,167 (GRCm39) |
E205G |
possibly damaging |
Het |
| Pecr |
A |
G |
1: 72,298,530 (GRCm39) |
F297L |
probably benign |
Het |
| Pgr15l |
G |
T |
X: 96,120,747 (GRCm39) |
R181M |
probably damaging |
Het |
| Pomgnt1 |
G |
A |
4: 116,011,325 (GRCm39) |
R230H |
probably damaging |
Het |
| Ppm1d |
T |
C |
11: 85,227,993 (GRCm39) |
I303T |
probably damaging |
Het |
| Ptprc |
T |
G |
1: 137,992,511 (GRCm39) |
Q1205H |
probably damaging |
Het |
| Rnf112 |
A |
T |
11: 61,341,011 (GRCm39) |
|
probably benign |
Het |
| Slc25a13 |
T |
A |
6: 6,109,288 (GRCm39) |
Q358L |
probably damaging |
Het |
| Slc25a19 |
A |
G |
11: 115,506,285 (GRCm39) |
Y303H |
probably damaging |
Het |
| Sympk |
T |
C |
7: 18,769,880 (GRCm39) |
F186L |
probably damaging |
Het |
| Tek |
A |
G |
4: 94,692,549 (GRCm39) |
D219G |
probably benign |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Tnik |
T |
C |
3: 28,692,568 (GRCm39) |
Y820H |
probably damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,614,355 (GRCm39) |
R838W |
probably damaging |
Het |
| Vmn2r29 |
C |
G |
7: 7,243,011 (GRCm39) |
D500H |
probably 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCTGCAATTTTGGAAGCATC -3'
(R):5'- TCCCGAAGTGTGTAGGTAGAG -3'
Sequencing Primer
(F):5'- TGGAAGCATCTATCTGTCCTAAC -3'
(R):5'- AAAGTAAACATTGAGTGTGTGTGTG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation