Incidental Mutation 'IGL02219:Pdgfa'
ID 285067
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdgfa
Ensembl Gene ENSMUSG00000025856
Gene Name platelet derived growth factor, alpha
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02219
Quality Score
Status
Chromosome 5
Chromosomal Location 138961769-138983125 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 138971950 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 150 (V150I)
Ref Sequence ENSEMBL: ENSMUSP00000038870 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046901] [ENSMUST00000076095] [ENSMUST00000110896] [ENSMUST00000110897]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000046901
AA Change: V150I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038870
Gene: ENSMUSG00000025856
AA Change: V150I

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
PDGF 94 181 1.5e-47 SMART
low complexity region 189 207 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000076095
AA Change: V150I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000075463
Gene: ENSMUSG00000025856
AA Change: V150I

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
PDGF 94 181 2.98e-45 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110896
AA Change: V150I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000106521
Gene: ENSMUSG00000025856
AA Change: V150I

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
PDGF 94 181 2.98e-45 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110897
AA Change: V150I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000106522
Gene: ENSMUSG00000025856
AA Change: V150I

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
PDGF 94 181 2.98e-45 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124080
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132051
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144934
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the protein family comprised of both platelet-derived growth factors (PDGF) and vascular endothelial growth factors (VEGF). The encoded preproprotein is proteolytically processed to generate platelet-derived growth factor subunit A, which can homodimerize, or alternatively, heterodimerize with the related platelet-derived growth factor subunit B. These proteins bind and activate PDGF receptor tyrosine kinases, which play a role in a wide range of developmental processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygotes for a targeted null mutation die either before E10.0 or postnatally. The latter exhibit lung emphysema, reduced numbers of oligodendrocytes, tremors, and abnormalities of the skin, hair follicles, and gastrointestinal lining. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730013G03Rik A T 1: 192,515,691 (GRCm39) noncoding transcript Het
Abcb10 G A 8: 124,681,166 (GRCm39) H677Y probably benign Het
Ager T C 17: 34,819,094 (GRCm39) V314A probably damaging Het
Asxl3 A G 18: 22,586,683 (GRCm39) M158V possibly damaging Het
Atp1a2 G A 1: 172,107,298 (GRCm39) Q741* probably null Het
Atp1a2 A T 1: 172,107,285 (GRCm39) M745K probably damaging Het
Begain A G 12: 108,999,656 (GRCm39) S577P probably benign Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Camk2b A G 11: 5,926,872 (GRCm39) L497P possibly damaging Het
Cand2 T A 6: 115,780,773 (GRCm39) I1219N probably damaging Het
Cckbr T A 7: 105,083,255 (GRCm39) Y153N probably damaging Het
Cep250 T G 2: 155,833,514 (GRCm39) V1812G probably benign Het
Cyp2c39 A T 19: 39,556,643 (GRCm39) probably benign Het
Ddx43 T A 9: 78,324,001 (GRCm39) M444K probably damaging Het
Dnm1 A T 2: 32,213,462 (GRCm39) M506K probably benign Het
Duox2 A T 2: 122,125,145 (GRCm39) H352Q probably benign Het
Fcgbpl1 T C 7: 27,854,060 (GRCm39) Y1675H probably damaging Het
Fsip2 A G 2: 82,808,174 (GRCm39) T1498A probably benign Het
Gcn1 A T 5: 115,751,826 (GRCm39) Q2067L possibly damaging Het
Get4 G T 5: 139,249,384 (GRCm39) probably null Het
Gm6370 G A 5: 146,430,453 (GRCm39) A213T possibly damaging Het
Gpr135 T C 12: 72,117,047 (GRCm39) Y240C probably damaging Het
Gstm5 T A 3: 107,805,347 (GRCm39) L145Q probably damaging Het
Hoxb3 T C 11: 96,236,986 (GRCm39) Y355H probably damaging Het
Hsf2 A C 10: 57,372,370 (GRCm39) K108Q probably damaging Het
Kdm3a T C 6: 71,577,718 (GRCm39) N694S probably benign Het
Lrpap1 G A 5: 35,253,411 (GRCm39) probably benign Het
Mapk8ip3 T C 17: 25,118,532 (GRCm39) T1162A probably damaging Het
Mettl14 T C 3: 123,168,540 (GRCm39) probably benign Het
Mrgprx1 T C 7: 47,671,477 (GRCm39) Y90C probably benign Het
Mybpc3 A T 2: 90,951,368 (GRCm39) probably null Het
Nup88 C T 11: 70,860,518 (GRCm39) G87D probably benign Het
Or5w20 A G 2: 87,727,317 (GRCm39) Y258C possibly damaging Het
Or7d9 A T 9: 20,197,756 (GRCm39) T254S probably benign Het
Or9i1 C T 19: 13,839,187 (GRCm39) T10M probably damaging Het
Pan2 G A 10: 128,156,221 (GRCm39) E1133K probably benign Het
Pcsk2 T C 2: 143,635,045 (GRCm39) S307P probably damaging Het
Phf12 T C 11: 77,875,022 (GRCm39) C83R probably damaging Het
Pla2g2c A G 4: 138,463,319 (GRCm39) Y71C probably damaging Het
Pou2f2 T A 7: 24,797,107 (GRCm39) Q218L probably damaging Het
Prl8a9 C T 13: 27,743,353 (GRCm39) V151I possibly damaging Het
Prop1 T C 11: 50,842,911 (GRCm39) D92G probably damaging Het
Rnf13 A G 3: 57,703,644 (GRCm39) Y116C probably damaging Het
Ro60 A G 1: 143,637,013 (GRCm39) C400R possibly damaging Het
Scrib T A 15: 75,936,885 (GRCm39) K383* probably null Het
Slc44a5 T C 3: 153,944,796 (GRCm39) Y138H possibly damaging Het
Stra6 G A 9: 58,047,752 (GRCm39) V108M probably benign Het
Tspan10 G T 11: 120,337,198 (GRCm39) A323S probably benign Het
Ttc22 T A 4: 106,495,687 (GRCm39) V347D probably damaging Het
Ugt1a10 C T 1: 87,983,780 (GRCm39) L193F probably benign Het
Vps13d G T 4: 144,894,716 (GRCm39) H457N probably benign Het
Vrtn A G 12: 84,695,607 (GRCm39) Y119C probably damaging Het
Xpnpep3 T C 15: 81,311,657 (GRCm39) F121S probably damaging Het
Other mutations in Pdgfa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00329:Pdgfa APN 5 138,974,216 (GRCm39) splice site probably benign
R1852:Pdgfa UTSW 5 138,964,927 (GRCm39) missense probably benign 0.31
R3039:Pdgfa UTSW 5 138,972,114 (GRCm39) missense probably benign 0.10
R4368:Pdgfa UTSW 5 138,972,061 (GRCm39) missense probably damaging 1.00
R4647:Pdgfa UTSW 5 138,964,939 (GRCm39) missense probably benign 0.14
R4773:Pdgfa UTSW 5 138,979,051 (GRCm39) missense probably benign 0.03
R5262:Pdgfa UTSW 5 138,979,049 (GRCm39) missense probably benign 0.06
R5317:Pdgfa UTSW 5 138,974,102 (GRCm39) critical splice donor site probably null
R6009:Pdgfa UTSW 5 138,964,954 (GRCm39) missense probably damaging 1.00
R8446:Pdgfa UTSW 5 138,964,395 (GRCm39) missense unknown
R8992:Pdgfa UTSW 5 138,971,977 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16