Incidental Mutation 'R3705:Pdgfc'
ID 258691
Institutional Source Beutler Lab
Gene Symbol Pdgfc
Ensembl Gene ENSMUSG00000028019
Gene Name platelet-derived growth factor, C polypeptide
Synonyms PDGF-C, 1110064L01Rik
MMRRC Submission 040698-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3705 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 80943723-81121347 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 81111751 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000029652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029652] [ENSMUST00000129285] [ENSMUST00000143721]
AlphaFold Q8CI19
Predicted Effect probably null
Transcript: ENSMUST00000029652
SMART Domains Protein: ENSMUSP00000029652
Gene: ENSMUSG00000028019

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 0.9483 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 100% (46/46)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T C 11: 48,838,803 (GRCm39) T595A possibly damaging Het
Abca12 T C 1: 71,324,864 (GRCm39) D1538G probably damaging Het
Asap3 TGAGGAGGAGGAGGAGGA TGAGGAGGAGGAGGAGGAGGA 4: 135,968,552 (GRCm39) probably benign Het
Bcap29 T C 12: 31,667,151 (GRCm39) H170R probably benign Het
Bltp1 T A 3: 37,041,730 (GRCm39) C2703S probably damaging Het
Brwd3 A G X: 107,804,021 (GRCm39) probably benign Het
Capn1 T C 19: 6,057,401 (GRCm39) E349G probably damaging Het
Cers3 G T 7: 66,435,823 (GRCm39) A261S probably benign Het
Csf3r A G 4: 125,926,078 (GRCm39) D221G possibly damaging Het
Cubn T A 2: 13,355,754 (GRCm39) H1826L probably damaging Het
Dnajc19 A G 3: 34,134,378 (GRCm39) probably null Het
Dync1h1 G A 12: 110,607,020 (GRCm39) V2566I possibly damaging Het
Ehd1 A G 19: 6,348,330 (GRCm39) D436G Het
Fam133b T C 5: 3,611,034 (GRCm39) probably benign Het
Fam43b G C 4: 138,122,409 (GRCm39) R304G probably benign Het
Gpnmb T A 6: 49,028,799 (GRCm39) I439N possibly damaging Het
Grm1 G A 10: 10,658,473 (GRCm39) T339I possibly damaging Het
Gtpbp3 T G 8: 71,944,779 (GRCm39) S345A probably benign Het
Hdac4 A G 1: 91,862,416 (GRCm39) probably benign Het
Hfm1 A G 5: 107,040,705 (GRCm39) probably benign Het
Ift172 A G 5: 31,418,781 (GRCm39) probably null Het
Igfn1 T C 1: 135,896,147 (GRCm39) N1473S probably benign Het
Jak3 A G 8: 72,134,166 (GRCm39) K423E probably damaging Het
Kifc3 G A 8: 95,830,656 (GRCm39) probably benign Het
Lrrc8d T C 5: 105,961,341 (GRCm39) S584P probably damaging Het
Nipal4 T C 11: 46,052,678 (GRCm39) probably benign Het
Nisch A G 14: 30,898,702 (GRCm39) probably benign Het
Nmur2 T C 11: 55,931,300 (GRCm39) Y137C probably damaging Het
Nod2 T C 8: 89,379,948 (GRCm39) S150P probably benign Het
Or5w22 A G 2: 87,362,412 (GRCm39) I12V probably benign Het
Phldb1 G T 9: 44,605,691 (GRCm39) H1323N probably damaging Het
Ppp1r14c A G 10: 3,373,524 (GRCm39) I112V possibly damaging Het
Pramel26 T C 4: 143,538,345 (GRCm39) T209A probably benign Het
Rcc1l A T 5: 134,183,030 (GRCm39) V414E probably damaging Het
Riok3 A G 18: 12,282,011 (GRCm39) M327V probably benign Het
Sf3b4 T C 3: 96,083,944 (GRCm39) probably benign Het
Spag6 A G 2: 18,715,368 (GRCm39) Y49C probably damaging Het
Syngap1 T C 17: 27,178,994 (GRCm39) S495P probably damaging Het
Tedc2 A G 17: 24,435,361 (GRCm39) S343P probably benign Het
Tenm2 T A 11: 35,959,153 (GRCm39) D1132V probably damaging Het
Tmem63a G A 1: 180,790,679 (GRCm39) D446N possibly damaging Het
Top1 G A 2: 160,544,744 (GRCm39) probably null Het
Tox3 G T 8: 90,975,533 (GRCm39) T366K possibly damaging Het
Tph2 G A 10: 114,955,798 (GRCm39) Q332* probably null Het
Zfr2 T G 10: 81,081,913 (GRCm39) V493G probably benign 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
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
Predicted Primers PCR Primer
(F):5'- TTTCACTTTCAGCAAGTCACAG -3'
(R):5'- TGCTGAGACAGGAATGACTG -3'

Sequencing Primer
(F):5'- GAGTCCTTCGGTGTTGCCC -3'
(R):5'- CAGGAATGACTGGAATTTTCAGC -3'
Posted On 2015-01-23