Incidental Mutation 'IGL01897:Pdgfc'
ID 179440
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 # IGL01897
Quality Score
Status
Chromosome 3
Chromosomal Location 80943723-81121347 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 81111639 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 198 (E198G)
Ref Sequence ENSEMBL: ENSMUSP00000029652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029652] [ENSMUST00000129285] [ENSMUST00000143721]
AlphaFold Q8CI19
Predicted Effect possibly damaging
Transcript: ENSMUST00000029652
AA Change: E198G

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000029652
Gene: ENSMUSG00000028019
AA Change: E198G

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3 A G 1: 125,346,025 (GRCm39) Y21H possibly damaging Het
Adamts15 A T 9: 30,813,448 (GRCm39) S906T probably damaging Het
Brat1 A G 5: 140,703,670 (GRCm39) D641G probably benign Het
Ccdc42 G A 11: 68,485,101 (GRCm39) R205H probably benign Het
Cdadc1 T C 14: 59,829,986 (GRCm39) probably null Het
Cfi T C 3: 129,652,034 (GRCm39) V235A probably damaging Het
Ctps1 T A 4: 120,424,476 (GRCm39) D46V probably damaging Het
Cyb5d1 A T 11: 69,284,587 (GRCm39) D188E probably benign Het
Cyp19a1 G T 9: 54,075,813 (GRCm39) T414N probably benign Het
Cyp2c40 A T 19: 39,792,217 (GRCm39) C242* probably null Het
Eif3b A T 5: 140,411,202 (GRCm39) T218S possibly damaging Het
Fasn A T 11: 120,698,765 (GRCm39) L2475Q probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Heyl A T 4: 123,140,400 (GRCm39) I320F probably damaging Het
Itpr3 T A 17: 27,330,236 (GRCm39) V1618E probably damaging Het
Kif7 A T 7: 79,350,800 (GRCm39) I1007N probably damaging Het
Lat2 A G 5: 134,635,481 (GRCm39) probably benign Het
Lipm A T 19: 34,098,708 (GRCm39) D394V probably damaging Het
Lmbrd1 T A 1: 24,782,977 (GRCm39) I307K possibly damaging Het
Mief1 T C 15: 80,132,709 (GRCm39) probably benign Het
Mta2 C T 19: 8,925,130 (GRCm39) Q333* probably null Het
Neb T A 2: 52,170,587 (GRCm39) E1695V possibly damaging Het
Npc1l1 A T 11: 6,177,879 (GRCm39) N510K probably benign Het
Or5af1 T C 11: 58,722,465 (GRCm39) F162L probably damaging Het
P2rx3 A C 2: 84,853,825 (GRCm39) probably benign Het
Pkdcc T A 17: 83,527,548 (GRCm39) I242N probably damaging Het
Pkn3 C T 2: 29,972,824 (GRCm39) probably benign Het
Rcan2 T G 17: 44,147,325 (GRCm39) D54E probably damaging Het
Tmeff2 T A 1: 51,171,369 (GRCm39) Y202N probably damaging Het
Unc13c A G 9: 73,453,309 (GRCm39) L1827P probably damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Wfdc15a G T 2: 164,041,896 (GRCm39) Q21K probably benign Het
Zfp951 C A 5: 104,963,149 (GRCm39) S139I 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
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 2014-05-07