Incidental Mutation 'R3776:Pdgfc'
ID 273582
Institutional Source Beutler Lab
Gene Symbol Pdgfc
Ensembl Gene ENSMUSG00000028019
Gene Name platelet-derived growth factor, C polypeptide
Synonyms PDGF-C, 1110064L01Rik
MMRRC Submission 040874-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3776 (G1)
Quality Score 225
Status Not 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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000143721
SMART Domains Protein: ENSMUSP00000122047
Gene: ENSMUSG00000028019

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Meta Mutation Damage Score 0.1197 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acer1 C T 17: 57,262,111 (GRCm39) V264M probably damaging Het
Adgrg1 C T 8: 95,736,283 (GRCm39) S479F probably damaging Het
Ank2 T A 3: 126,735,911 (GRCm39) probably benign Het
Atp2b1 CTTTTT CTTTTTT 10: 98,815,731 (GRCm39) probably null Het
Ccdc88c G A 12: 100,913,438 (GRCm39) T529M probably damaging Het
Cdc27 T G 11: 104,406,263 (GRCm39) E617D probably damaging Het
Cfap54 A G 10: 92,880,962 (GRCm39) V367A probably damaging Het
Col6a4 G A 9: 105,928,900 (GRCm39) Q1445* probably null Het
Crispld2 T C 8: 120,756,005 (GRCm39) S325P probably damaging Het
Dll1 T C 17: 15,588,786 (GRCm39) S630G probably benign Het
Ednra A G 8: 78,401,724 (GRCm39) S189P probably damaging Het
Eif6 T A 2: 155,668,296 (GRCm39) T20S possibly damaging Het
Fbxl5 A G 5: 43,915,618 (GRCm39) V555A possibly damaging Het
Gdpd5 G A 7: 99,103,779 (GRCm39) R422Q probably benign Het
Glt1d1 T A 5: 127,771,375 (GRCm39) F289I probably damaging Het
Gm5565 T A 5: 146,095,419 (GRCm39) E192V probably benign Het
Gpc5 T C 14: 115,607,472 (GRCm39) M358T probably benign Het
Helz2 G A 2: 180,882,182 (GRCm39) R204* probably null Het
Hhex A T 19: 37,425,718 (GRCm39) Q149L probably damaging Het
Kat2b A G 17: 53,874,609 (GRCm39) probably null Het
Kif23 G A 9: 61,832,274 (GRCm39) S623L probably benign Het
Klra2 A T 6: 131,219,926 (GRCm39) L85H 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
Mttp T C 3: 137,820,024 (GRCm39) probably null Het
Mxi1 C A 19: 53,360,160 (GRCm39) A294E probably benign Het
Nin G T 12: 70,085,456 (GRCm39) Q1592K possibly damaging Het
Nlrc5 A G 8: 95,199,467 (GRCm39) E26G possibly damaging Het
Nup160 G T 2: 90,552,420 (GRCm39) C1132F probably benign Het
Or4a15 A T 2: 89,193,108 (GRCm39) S222T possibly damaging Het
Pdgfrb A G 18: 61,214,992 (GRCm39) D1007G probably benign Het
Pgbd1 A G 13: 21,612,543 (GRCm39) L98P probably benign Het
Pkhd1l1 G A 15: 44,378,371 (GRCm39) probably null Het
Plod1 A G 4: 148,015,734 (GRCm39) V105A possibly damaging Het
Polg2 G T 11: 106,670,110 (GRCm39) F53L probably benign Het
Ptprc T G 1: 137,992,511 (GRCm39) Q1205H probably damaging Het
Rab3gap2 T C 1: 185,009,402 (GRCm39) L1086P probably damaging Het
Rnf19a T A 15: 36,266,058 (GRCm39) N13I probably benign Het
Slc25a19 A G 11: 115,506,285 (GRCm39) Y303H probably damaging Het
Tnrc6c C T 11: 117,614,355 (GRCm39) R838W probably damaging Het
Trpm3 T C 19: 22,955,966 (GRCm39) F1143L possibly damaging Het
Ubxn11 C T 4: 133,835,605 (GRCm39) P4S probably damaging Het
Zg16 T A 7: 126,649,704 (GRCm39) I86F probably damaging Het
Other mutations in Pdgfc
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- AGCCTGCAATTTTGGAAGC -3'
(R):5'- CCCGAAGTGTGTAGGTAGAGAC -3'

Sequencing Primer
(F):5'- GCCTGCAATTTTGGAAGCATCTATC -3'
(R):5'- AAAGTAAACATTGAGTGTGTGTGTG -3'
Posted On 2015-03-25