Incidental Mutation 'IGL01420:Pdgfc'
ID 80380
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) question?
Stock # IGL01420
Quality Score
Status
Chromosome 3
Chromosomal Location 80943723-81121347 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 81048750 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 53 (S53T)
Ref Sequence ENSEMBL: ENSMUSP00000029652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029652] [ENSMUST00000129285] [ENSMUST00000143721]
AlphaFold Q8CI19
Predicted Effect probably benign
Transcript: ENSMUST00000029652
AA Change: S53T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000029652
Gene: ENSMUSG00000028019
AA Change: S53T

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
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 A G 16: 30,920,637 (GRCm39) probably benign Het
Actr6 A T 10: 89,561,027 (GRCm39) probably benign Het
Adamts3 A T 5: 89,850,916 (GRCm39) M541K possibly damaging Het
Adgre4 T C 17: 56,106,785 (GRCm39) probably benign Het
Anxa6 T C 11: 54,883,189 (GRCm39) Y481C probably damaging Het
Apbb1ip A T 2: 22,748,292 (GRCm39) I371F possibly damaging Het
Arhgef10l T C 4: 140,297,649 (GRCm39) D261G probably damaging Het
Bche T C 3: 73,609,342 (GRCm39) H28R probably benign Het
C2cd3 T C 7: 100,104,065 (GRCm39) V2026A probably benign Het
Cacna1d C T 14: 29,773,595 (GRCm39) V1697I probably benign Het
Celsr2 T C 3: 108,301,079 (GRCm39) H2738R probably benign Het
Celsr3 A G 9: 108,718,389 (GRCm39) probably null Het
Cep152 A T 2: 125,405,572 (GRCm39) D1653E possibly damaging Het
Cfap57 T A 4: 118,470,137 (GRCm39) I248F probably benign Het
Clcnka C A 4: 141,116,643 (GRCm39) R536L probably benign Het
Dao T A 5: 114,161,881 (GRCm39) probably benign Het
Dnajc10 T C 2: 80,175,367 (GRCm39) S585P possibly damaging Het
Dysf C T 6: 84,126,741 (GRCm39) Q1333* probably null Het
Eps8l2 T A 7: 140,937,576 (GRCm39) S397T probably benign Het
Fap A G 2: 62,334,846 (GRCm39) probably benign Het
Fbf1 T C 11: 116,036,822 (GRCm39) T971A probably benign Het
Fbxl17 C T 17: 63,692,047 (GRCm39) V22M probably damaging Het
Fcgbpl1 T A 7: 27,839,558 (GRCm39) M457K probably benign Het
Fundc2 T C X: 74,434,471 (GRCm39) probably benign Het
Heyl C A 4: 123,133,967 (GRCm39) Q42K probably damaging Het
Hyal4 A G 6: 24,755,871 (GRCm39) K30E probably benign Het
Igsf10 T C 3: 59,227,071 (GRCm39) I2201V probably benign Het
Il34 T C 8: 111,469,345 (GRCm39) K157E probably damaging Het
Kcnj13 T C 1: 87,316,766 (GRCm39) T116A probably damaging Het
Lpl T C 8: 69,340,085 (GRCm39) probably benign Het
Mcm6 A G 1: 128,273,612 (GRCm39) L406P probably damaging Het
Mst1 G A 9: 107,960,027 (GRCm39) R328H probably damaging Het
Nadk2 T C 15: 9,103,072 (GRCm39) S308P probably damaging Het
Nae1 G T 8: 105,249,797 (GRCm39) Q225K probably benign Het
Ncoa6 G A 2: 155,249,507 (GRCm39) P1266S probably damaging Het
Neb A G 2: 52,047,389 (GRCm39) Y6485H probably damaging Het
Nin G A 12: 70,092,188 (GRCm39) A707V probably benign Het
Nmur1 T C 1: 86,315,113 (GRCm39) T218A probably benign Het
Npr3 T C 15: 11,858,718 (GRCm39) N135D probably damaging Het
Nup107 A T 10: 117,620,926 (GRCm39) L142Q probably damaging Het
Plxdc2 T A 2: 16,654,950 (GRCm39) V232D probably damaging Het
Pou2f2 T C 7: 24,792,377 (GRCm39) N493D possibly damaging Het
Rtel1 T C 2: 180,996,194 (GRCm39) I750T probably benign Het
Sbk1 A G 7: 125,891,184 (GRCm39) probably null Het
Sec24d A G 3: 123,143,658 (GRCm39) N603S probably benign Het
Slc38a10 T A 11: 119,997,286 (GRCm39) E736V probably damaging Het
Smc6 A G 12: 11,341,659 (GRCm39) Y559C probably benign Het
Sprr4 A T 3: 92,407,691 (GRCm39) V37E unknown Het
Sptbn2 A G 19: 4,784,153 (GRCm39) T632A probably benign Het
Trim31 A G 17: 37,209,303 (GRCm39) M20V probably benign Het
Trim65 C A 11: 116,017,335 (GRCm39) V376L probably damaging Het
Ttn T C 2: 76,542,420 (GRCm39) D25195G probably damaging Het
Tysnd1 A G 10: 61,537,830 (GRCm39) T503A possibly damaging Het
Vtn A T 11: 78,390,200 (GRCm39) I9L probably benign Het
Zfp398 A G 6: 47,842,868 (GRCm39) M175V probably benign Het
Other mutations in Pdgfc
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-11-05