Incidental Mutation 'R4583:Pdgfc'
ID 343792
Institutional Source Beutler Lab
Gene Symbol Pdgfc
Ensembl Gene ENSMUSG00000028019
Gene Name platelet-derived growth factor, C polypeptide
Synonyms PDGF-C, 1110064L01Rik
MMRRC Submission 041804-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4583 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 81036416-81214040 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 81141528 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 81 (D81V)
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: D81V

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000029652
Gene: ENSMUSG00000028019
AA Change: D81V

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

signal peptide 1 22 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000143721
SMART Domains Protein: ENSMUSP00000122047
Gene: ENSMUSG00000028019

signal peptide 1 22 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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: 119 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik T C 7: 27,574,592 (GRCm38) L86P unknown Het
Aimp1 C T 3: 132,677,047 (GRCm38) E23K probably damaging Het
Ap2b1 A T 11: 83,397,779 (GRCm38) N884I probably benign Het
Apoe G T 7: 19,697,498 (GRCm38) Q65K possibly damaging Het
Arhgef1 T A 7: 24,912,571 (GRCm38) D93E probably benign Het
Arhgef12 G T 9: 42,977,662 (GRCm38) T1085K probably damaging Het
Arid5a T C 1: 36,317,664 (GRCm38) probably null Het
Atp9a A T 2: 168,689,360 (GRCm38) probably null Het
Baz1a T C 12: 54,922,540 (GRCm38) I635V probably damaging Het
Bbs10 A G 10: 111,301,134 (GRCm38) K703E probably benign Het
Cckar T A 5: 53,699,782 (GRCm38) M429L probably benign Het
Ccl3 A T 11: 83,648,338 (GRCm38) L65Q probably benign Het
Ccr3 A G 9: 124,029,440 (GRCm38) T271A probably benign Het
Cd8b1 T A 6: 71,326,097 (GRCm38) I52N probably damaging Het
Cdh15 G A 8: 122,865,028 (GRCm38) E551K probably damaging Het
Cdh17 A G 4: 11,810,466 (GRCm38) K719R probably benign Het
Cfap43 T C 19: 47,837,216 (GRCm38) R38G probably null Het
Chd6 T C 2: 161,014,194 (GRCm38) E715G probably damaging Het
Cldn34b2 T A X: 155,125,629 (GRCm38) R68* probably null Het
Col19a1 T G 1: 24,561,329 (GRCm38) D44A unknown Het
Colgalt2 C T 1: 152,506,876 (GRCm38) S493F probably damaging Het
Cr1l T C 1: 195,129,831 (GRCm38) I99M probably damaging Het
Crybg1 T C 10: 43,997,620 (GRCm38) E1164G probably damaging Het
Cym G T 3: 107,211,402 (GRCm38) D367E probably damaging Het
Dennd2a G T 6: 39,522,842 (GRCm38) T263K probably damaging Het
Dhx9 T A 1: 153,460,303 (GRCm38) M869L probably damaging Het
Dnm2 A G 9: 21,504,446 (GRCm38) H692R probably damaging Het
Ern1 A T 11: 106,407,205 (GRCm38) S697T probably damaging Het
F12 G A 13: 55,421,130 (GRCm38) T273I probably benign Het
Fam151b A T 13: 92,468,109 (GRCm38) L124Q probably damaging Het
Fancg A G 4: 43,002,991 (GRCm38) V622A probably benign Het
Fbxo2 T A 4: 148,164,899 (GRCm38) N159K possibly damaging Het
Fgd2 C A 17: 29,367,078 (GRCm38) T212K possibly damaging Het
Fhl3 T A 4: 124,707,549 (GRCm38) D178E probably benign Het
Filip1 G T 9: 79,815,809 (GRCm38) A1176D possibly damaging Het
Fndc1 T C 17: 7,739,249 (GRCm38) Y1722C probably damaging Het
Frem3 T C 8: 80,613,514 (GRCm38) V812A probably benign Het
Fsip2 A G 2: 82,978,673 (GRCm38) I1779V probably benign Het
Gli2 C T 1: 118,842,068 (GRCm38) V585I probably benign Het
Gm15056 C G 8: 20,900,681 (GRCm38) S80T probably benign Het
Gm4951 T C 18: 60,246,080 (GRCm38) I229T possibly damaging Het
Gm5145 A G 17: 20,570,453 (GRCm38) E31G probably benign Het
Gmfg A G 7: 28,445,944 (GRCm38) Y71C probably damaging Het
Grk1 A G 8: 13,409,322 (GRCm38) E291G probably damaging Het
Gtpbp1 A G 15: 79,715,951 (GRCm38) E393G possibly damaging Het
Gtpbp2 A G 17: 46,161,145 (GRCm38) D2G probably damaging Het
Hc A T 2: 35,028,177 (GRCm38) V698E probably benign Het
Helz G A 11: 107,646,069 (GRCm38) R249H probably damaging Het
Hmcn2 A G 2: 31,413,265 (GRCm38) I2973V possibly damaging Het
Hnrnpa3 A G 2: 75,663,606 (GRCm38) R286G probably benign Het
Hus1b A T 13: 30,947,518 (GRCm38) W53R probably damaging Het
Hydin C T 8: 110,595,225 (GRCm38) T4503I probably benign Het
Ighmbp2 G C 19: 3,265,324 (GRCm38) P699A probably benign Het
Igkv1-122 A T 6: 68,017,458 (GRCm38) Y110F probably benign Het
Igkv8-28 T C 6: 70,143,620 (GRCm38) Y113C probably damaging Het
Il16 A G 7: 83,682,899 (GRCm38) S158P probably damaging Het
Kalrn T A 16: 34,235,267 (GRCm38) H876L probably damaging Het
Kdm5d T A Y: 914,134 (GRCm38) L357H probably damaging Het
Krt78 T C 15: 101,946,620 (GRCm38) T919A possibly damaging Het
L3mbtl2 T C 15: 81,684,906 (GRCm38) C594R probably damaging Het
Lcorl A T 5: 45,733,589 (GRCm38) L474* probably null Het
Lgals3 A T 14: 47,381,687 (GRCm38) probably null Het
Lnx1 C T 5: 74,610,796 (GRCm38) V350I probably benign Het
Lpcat3 T G 6: 124,703,323 (GRCm38) W429G possibly damaging Het
Lrp1 T C 10: 127,541,372 (GRCm38) T4149A probably benign Het
Memo1 G A 17: 74,258,461 (GRCm38) Q36* probably null Het
Micalcl A G 7: 112,412,947 (GRCm38) N668S probably benign Het
Ms4a10 A T 19: 10,968,189 (GRCm38) I76N possibly damaging Het
Mthfr T G 4: 148,051,872 (GRCm38) L362V possibly damaging Het
Myh3 T A 11: 67,096,453 (GRCm38) Y1376* probably null Het
Mymk C A 2: 27,062,280 (GRCm38) V192F probably benign Het
Myo1c A G 11: 75,671,862 (GRCm38) D966G possibly damaging Het
Ncam2 A G 16: 81,517,557 (GRCm38) N474D probably damaging Het
Nmnat1 T C 4: 149,469,151 (GRCm38) N168S possibly damaging Het
Nmur1 C T 1: 86,386,645 (GRCm38) V323M possibly damaging Het
Npr2 C A 4: 43,633,522 (GRCm38) probably null Het
Nsd3 T A 8: 25,710,676 (GRCm38) M1265K probably benign Het
Olfr1206 G T 2: 88,865,494 (GRCm38) M296I probably benign Het
Olfr1212 T A 2: 88,959,212 (GRCm38) F249I probably damaging Het
Olfr1462 T A 19: 13,190,698 (GRCm38) F10L probably damaging Het
Olfr152 T C 2: 87,783,221 (GRCm38) V227A possibly damaging Het
Olfr155 A G 4: 43,855,262 (GRCm38) T318A probably benign Het
Olfr345 A C 2: 36,640,614 (GRCm38) T192P probably damaging Het
Olfr394 T C 11: 73,887,803 (GRCm38) T190A probably damaging Het
Olfr812 T C 10: 129,842,475 (GRCm38) D189G probably damaging Het
Otub1 G A 19: 7,204,436 (GRCm38) A25V possibly damaging Het
Paqr3 T A 5: 97,108,210 (GRCm38) R102* probably null Het
Patl2 A G 2: 122,126,745 (GRCm38) S103P probably benign Het
Pcdhb15 A T 18: 37,475,575 (GRCm38) H620L possibly damaging Het
Pdia2 T C 17: 26,196,502 (GRCm38) D447G probably damaging Het
Pold1 C A 7: 44,538,913 (GRCm38) A514S probably damaging Het
Pomgnt1 C T 4: 116,158,494 (GRCm38) T552I probably benign Het
Ppl T C 16: 5,104,536 (GRCm38) E294G probably benign Het
Pramef8 A G 4: 143,416,754 (GRCm38) Y30C probably damaging Het
Prkcb A G 7: 122,457,224 (GRCm38) S100G probably benign Het
Psg16 T G 7: 17,095,172 (GRCm38) I227S probably benign Het
Rbbp6 AAAGAAGAAGAAGAAGAAG AAAGAAGAAGAAGAAG 7: 123,001,952 (GRCm38) probably benign Het
Reck T C 4: 43,931,062 (GRCm38) probably null Het
Rrbp1 C T 2: 143,988,751 (GRCm38) G499S probably benign Het
Sema6d G T 2: 124,664,162 (GRCm38) R630L probably damaging Het
Slc29a1 A G 17: 45,589,956 (GRCm38) V94A possibly damaging Het
Slc35a1 T A 4: 34,664,146 (GRCm38) Q324L probably benign Het
Slc35c1 A T 2: 92,458,921 (GRCm38) L80Q probably damaging Het
Slc7a10 G T 7: 35,197,952 (GRCm38) probably null Het
Srrm2 C T 17: 23,819,619 (GRCm38) probably benign Het
Stk38 T G 17: 28,982,156 (GRCm38) D182A probably damaging Het
Tas2r104 C T 6: 131,685,435 (GRCm38) G104S probably benign Het
Tmem121b T C 6: 120,492,094 (GRCm38) E554G probably damaging Het
Tor1aip2 A G 1: 156,065,142 (GRCm38) H398R probably benign Het
Tram2 C T 1: 21,013,449 (GRCm38) V83I probably benign Het
Ube3a C T 7: 59,286,063 (GRCm38) T565I probably damaging Het
Ubr4 T C 4: 139,380,853 (GRCm38) V56A possibly damaging Het
Vmn1r128 T C 7: 21,349,719 (GRCm38) V116A possibly damaging Het
Vmn1r170 C T 7: 23,606,662 (GRCm38) T163I probably benign Het
Vmn2r75 T A 7: 86,164,082 (GRCm38) D504V possibly damaging Het
Vps36 G A 8: 22,218,420 (GRCm38) M363I probably benign Het
Wdsub1 A G 2: 59,878,317 (GRCm38) S71P probably damaging Het
Zdhhc12 A G 2: 30,091,484 (GRCm38) F189L probably benign Het
Zfp521 T C 18: 13,844,330 (GRCm38) M1009V probably benign Het
Other mutations in Pdgfc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01420:Pdgfc APN 3 81,141,443 (GRCm38) missense probably benign 0.01
IGL01467:Pdgfc APN 3 81,209,091 (GRCm38) missense probably damaging 1.00
IGL01897:Pdgfc APN 3 81,204,332 (GRCm38) missense possibly damaging 0.71
IGL02732:Pdgfc APN 3 81,037,557 (GRCm38) splice site probably benign
PIT4403001:Pdgfc UTSW 3 81,174,961 (GRCm38) missense probably damaging 1.00
R1505:Pdgfc UTSW 3 81,209,236 (GRCm38) missense possibly damaging 0.89
R1619:Pdgfc UTSW 3 81,174,887 (GRCm38) missense probably benign 0.03
R1964:Pdgfc UTSW 3 81,174,985 (GRCm38) missense probably benign 0.34
R1975:Pdgfc UTSW 3 81,209,245 (GRCm38) missense probably damaging 0.99
R1977:Pdgfc UTSW 3 81,209,245 (GRCm38) missense probably damaging 0.99
R3705:Pdgfc UTSW 3 81,204,444 (GRCm38) critical splice donor site probably null
R3775:Pdgfc UTSW 3 81,141,551 (GRCm38) missense probably damaging 1.00
R3776:Pdgfc UTSW 3 81,141,551 (GRCm38) missense probably damaging 1.00
R4381:Pdgfc UTSW 3 81,209,251 (GRCm38) missense probably damaging 1.00
R4504:Pdgfc UTSW 3 81,174,991 (GRCm38) missense probably benign
R7092:Pdgfc UTSW 3 81,204,352 (GRCm38) missense probably damaging 1.00
R8196:Pdgfc UTSW 3 81,037,504 (GRCm38) missense possibly damaging 0.57
R9762:Pdgfc UTSW 3 81,037,485 (GRCm38) missense probably benign 0.06
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-09-24