Incidental Mutation 'IGL02732:Pdgfc'
ID 305524
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 # IGL02732
Quality Score
Status
Chromosome 3
Chromosomal Location 80943723-81121347 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 80944864 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029652] [ENSMUST00000129285] [ENSMUST00000143721]
AlphaFold Q8CI19
Predicted Effect probably benign
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146657
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198860
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apoo-ps C A 13: 107,551,123 (GRCm39) noncoding transcript Het
Ash1l T A 3: 88,873,535 (GRCm39) V106E probably damaging Het
Baz2a A G 10: 127,961,044 (GRCm39) T1618A possibly damaging Het
Brca1 A G 11: 101,383,045 (GRCm39) S1732P probably benign Het
Cdh1 T A 8: 107,392,955 (GRCm39) I813N probably damaging Het
Cdk5rap2 G A 4: 70,184,902 (GRCm39) R1183* probably null Het
Cep170 C T 1: 176,564,440 (GRCm39) E1479K probably damaging Het
Cep68 A T 11: 20,186,109 (GRCm39) probably benign Het
Cog7 C T 7: 121,522,590 (GRCm39) V750I probably benign Het
Cplane1 A G 15: 8,209,375 (GRCm39) T271A probably benign Het
Cyb5d1 A C 11: 69,284,635 (GRCm39) probably null Het
Dlgap4 A G 2: 156,591,243 (GRCm39) K120E probably benign Het
Dmtf1 T C 5: 9,186,098 (GRCm39) I75V possibly damaging Het
Fnip2 T C 3: 79,373,004 (GRCm39) T995A probably damaging Het
Hecw2 G A 1: 53,965,847 (GRCm39) probably benign Het
Il17rd T A 14: 26,809,376 (GRCm39) F111I probably damaging Het
Itgb8 A C 12: 119,127,088 (GRCm39) M722R probably benign Het
Maip1 A G 1: 57,449,114 (GRCm39) D165G probably damaging Het
Mcm6 A T 1: 128,287,227 (GRCm39) C26S probably benign Het
Mdp1 T C 14: 55,896,678 (GRCm39) I128V possibly damaging Het
Myof A T 19: 37,966,164 (GRCm39) F385L possibly damaging Het
Nebl C T 2: 17,457,295 (GRCm39) probably benign Het
Nusap1 A G 2: 119,466,061 (GRCm39) E227G probably damaging Het
Or4b13 A G 2: 90,082,652 (GRCm39) S227P probably damaging Het
Or51m1 T G 7: 103,578,336 (GRCm39) M102R probably damaging Het
Or52e3 A C 7: 102,869,447 (GRCm39) N174T probably benign Het
Pamr1 A T 2: 102,472,486 (GRCm39) H595L probably benign Het
Pate5 C T 9: 35,750,345 (GRCm39) G109D probably damaging Het
Pierce1 T C 2: 28,355,192 (GRCm39) N91S probably damaging Het
Ptpn22 A T 3: 103,793,349 (GRCm39) E500V probably damaging Het
Ptprg G T 14: 12,225,617 (GRCm38) probably null Het
R3hdm2 T C 10: 127,319,929 (GRCm39) F513L probably benign Het
Ramac T C 7: 81,417,473 (GRCm39) probably null Het
Rhobtb3 C A 13: 76,059,056 (GRCm39) L247F probably damaging Het
Scfd1 T C 12: 51,469,756 (GRCm39) S434P probably benign Het
Serpinb3d T A 1: 107,010,526 (GRCm39) probably null Het
Sin3b T C 8: 73,460,081 (GRCm39) F223L possibly damaging Het
Slc9c1 T C 16: 45,370,548 (GRCm39) V263A possibly damaging Het
Sntb1 A G 15: 55,655,596 (GRCm39) S207P possibly damaging Het
Sqor A T 2: 122,641,682 (GRCm39) T1S possibly damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Ssh2 A G 11: 77,328,602 (GRCm39) probably null Het
Tasor2 A G 13: 3,623,626 (GRCm39) V2108A probably benign Het
Tmod2 A G 9: 75,493,454 (GRCm39) V167A possibly damaging Het
Trak2 G A 1: 58,949,222 (GRCm39) T526M probably benign Het
Trdn G A 10: 33,344,195 (GRCm39) probably null Het
Trim5 T A 7: 103,927,672 (GRCm39) E156V probably benign Het
Twf1 A G 15: 94,478,890 (GRCm39) S273P probably damaging Het
Xylt1 T C 7: 117,191,164 (GRCm39) V320A possibly damaging Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R 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
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 2015-04-16