Incidental Mutation 'R8196:Pdgfc'
ID 635436
Institutional Source Beutler Lab
Gene Symbol Pdgfc
Ensembl Gene ENSMUSG00000028019
Gene Name platelet-derived growth factor, C polypeptide
Synonyms PDGF-C, 1110064L01Rik
MMRRC Submission 067619-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8196 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 80943723-81121347 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80944811 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 23 (E23G)
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: E23G

PolyPhen 2 Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000029652
Gene: ENSMUSG00000028019
AA Change: E23G

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 unknown
Transcript: ENSMUST00000129285
AA Change: E23G
SMART Domains Protein: ENSMUSP00000118970
Gene: ENSMUSG00000028019
AA Change: E23G

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000143721
AA Change: E23G
SMART Domains Protein: ENSMUSP00000122047
Gene: ENSMUSG00000028019
AA Change: E23G

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (43/43)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd17b T A 19: 21,656,024 (GRCm39) V102D probably damaging Het
Adam6b T A 12: 113,454,087 (GRCm39) D301E probably benign Het
Adnp A C 2: 168,025,092 (GRCm39) D734E probably benign Het
Ank2 T A 3: 126,723,532 (GRCm39) T932S probably damaging Het
Arhgap20 C A 9: 51,760,277 (GRCm39) D709E possibly damaging Het
Atoh1 A G 6: 64,707,226 (GRCm39) D307G probably benign Het
Aven C T 2: 112,390,120 (GRCm39) R8W probably benign Het
B3galt1 A G 2: 67,948,530 (GRCm39) I82V probably benign Het
Chd2 T C 7: 73,118,285 (GRCm39) D1111G probably benign Het
Csmd1 T C 8: 16,059,468 (GRCm39) D2089G probably benign Het
Dach1 T A 14: 98,256,370 (GRCm39) H296L probably damaging Het
Dennd4b T G 3: 90,178,904 (GRCm39) L556R probably damaging Het
Dop1a T A 9: 86,405,151 (GRCm39) S326T probably benign Het
Eif2b5 T A 16: 20,321,306 (GRCm39) H286Q probably damaging Het
Fcnb C T 2: 27,968,330 (GRCm39) S209N possibly damaging Het
Fn3k T A 11: 121,341,222 (GRCm39) F292L probably damaging Het
Gm1123 G A 9: 98,905,309 (GRCm39) A67V probably benign Het
Hey2 C T 10: 30,710,273 (GRCm39) C160Y probably benign Het
Jph2 T A 2: 163,180,621 (GRCm39) probably null Het
Lars1 A G 18: 42,343,166 (GRCm39) S1084P possibly damaging Het
Macf1 T C 4: 123,276,497 (GRCm39) D6084G probably damaging Het
Mdfic G T 6: 15,740,989 (GRCm39) A115S probably benign Het
Mki67 T C 7: 135,297,237 (GRCm39) E2599G probably damaging Het
Mtus1 A G 8: 41,509,689 (GRCm39) S131P probably benign Het
Muc16 G T 9: 18,556,630 (GRCm39) T3221K unknown Het
Or1q1 T A 2: 36,886,873 (GRCm39) I17N possibly damaging Het
Or8b3 A G 9: 38,314,904 (GRCm39) S245G probably damaging Het
Or8b54 G A 9: 38,686,577 (GRCm39) V9M noncoding transcript Het
Pfkp T C 13: 6,655,698 (GRCm39) T312A probably benign Het
Pxn A G 5: 115,683,768 (GRCm39) E200G probably damaging Het
Rai1 C T 11: 60,076,796 (GRCm39) H287Y probably damaging Het
Rap1gap G A 4: 137,445,275 (GRCm39) V319I probably benign Het
Rbm46 C T 3: 82,772,775 (GRCm39) R119Q probably benign Het
Selp A T 1: 163,961,490 (GRCm39) D401V possibly damaging Het
Sh3bp5 A G 14: 31,139,399 (GRCm39) V58A probably benign Het
Shpk A T 11: 73,094,775 (GRCm39) I64F probably benign Het
Slmap A G 14: 26,189,646 (GRCm39) Y171H probably damaging Het
Tmem67 T C 4: 12,075,661 (GRCm39) T183A probably benign Het
Tyw1 G T 5: 130,328,862 (GRCm39) L549F probably damaging Het
Uhrf2 T A 19: 30,051,329 (GRCm39) M301K probably benign Het
Uvssa G A 5: 33,568,311 (GRCm39) V532I probably benign Het
Vmn2r113 A T 17: 23,176,938 (GRCm39) K574I probably damaging Het
Zfp52 A G 17: 21,782,156 (GRCm39) N668S possibly 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
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
R9762:Pdgfc UTSW 3 80,944,792 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- GATTATGTGGAAACTACCCTGCG -3'
(R):5'- CAGGAAACTCCCATCTGCAG -3'

Sequencing Primer
(F):5'- ATGTGGAAACTACCCTGCGATTCTC -3'
(R):5'- ATCTGCAGCGCCAGAGAC -3'
Posted On 2020-07-13