Incidental Mutation 'R8446:Pdgfa'
ID 654494
Institutional Source Beutler Lab
Gene Symbol Pdgfa
Ensembl Gene ENSMUSG00000025856
Gene Name platelet derived growth factor, alpha
Synonyms
MMRRC Submission 067827-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8446 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 138961769-138983125 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 138964395 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 211 (T211A)
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 unknown
Transcript: ENSMUST00000046901
AA Change: T211A
SMART Domains Protein: ENSMUSP00000038870
Gene: ENSMUSG00000025856
AA Change: T211A

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 benign
Transcript: ENSMUST00000076095
SMART Domains Protein: ENSMUSP00000075463
Gene: ENSMUSG00000025856

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
PDGF 94 181 2.98e-45 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110896
SMART Domains Protein: ENSMUSP00000106521
Gene: ENSMUSG00000025856

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
PDGF 94 181 2.98e-45 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110897
SMART Domains Protein: ENSMUSP00000106522
Gene: ENSMUSG00000025856

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
PDGF 94 181 2.98e-45 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf2 G A 5: 24,771,641 (GRCm39) R529* probably null Het
Afap1 T A 5: 36,144,645 (GRCm39) S122T Het
Arnt TG T 3: 95,382,014 (GRCm39) probably null Het
Bbs1 G A 19: 4,947,633 (GRCm39) T307I probably benign Het
Cacna1c A T 6: 118,604,411 (GRCm39) S1439T Het
Camk4 T A 18: 33,289,810 (GRCm39) H152Q probably damaging Het
Capn2 A T 1: 182,311,796 (GRCm39) M426K possibly damaging Het
Chrm3 C T 13: 9,928,338 (GRCm39) G233S probably damaging Het
Clca3a1 A T 3: 144,454,248 (GRCm39) Y461N probably damaging Het
Clip1 G C 5: 123,794,008 (GRCm39) P12A probably damaging Het
Cmya5 A G 13: 93,230,336 (GRCm39) L1584P possibly damaging Het
Commd5 T C 15: 76,785,094 (GRCm39) S164P probably damaging Het
Csgalnact1 A G 8: 68,913,743 (GRCm39) V154A probably damaging Het
Ddias C A 7: 92,515,818 (GRCm39) C25F probably damaging Het
Dnah7b A T 1: 46,329,875 (GRCm39) I3240F probably damaging Het
Fam186a T G 15: 99,845,335 (GRCm39) D303A unknown Het
Igkv8-27 A G 6: 70,148,932 (GRCm39) I74T probably damaging Het
Itgb2l G T 16: 96,233,857 (GRCm39) Q278K probably damaging Het
Itgb7 T C 15: 102,127,043 (GRCm39) E464G probably damaging Het
Kdm2a G A 19: 4,406,916 (GRCm39) Q116* probably null Het
Krtap5-2 TCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCCCCACAGGAACTACA TCCACAGGAACTACA 7: 141,728,845 (GRCm39) probably benign Het
Larp1 T C 11: 57,942,035 (GRCm39) probably null Het
Lnx2 A G 5: 146,970,169 (GRCm39) L191S probably benign Het
Mtmr7 G A 8: 41,059,927 (GRCm39) A62V possibly damaging Het
Myh4 T A 11: 67,144,347 (GRCm39) M1239K probably benign Het
Nckap5l C A 15: 99,323,930 (GRCm39) G858C probably benign Het
Nelfa A T 5: 34,058,982 (GRCm39) L262Q probably damaging Het
Or2j3 A G 17: 38,615,638 (GRCm39) V238A probably benign Het
Or8b46 A T 9: 38,450,964 (GRCm39) M258L probably benign Het
Prl3d2 A T 13: 27,307,976 (GRCm39) I86F probably benign Het
Rpf2 T A 10: 40,115,752 (GRCm39) T76S probably benign Het
Setbp1 C T 18: 78,900,971 (GRCm39) D899N probably damaging Het
Slc35c1 T A 2: 92,284,707 (GRCm39) E315D probably benign Het
Slc6a3 A T 13: 73,719,674 (GRCm39) M568L possibly damaging Het
Sorbs1 T C 19: 40,314,602 (GRCm39) M737V probably benign Het
Sox17 A G 1: 4,562,316 (GRCm39) Y295H possibly damaging Het
Tex44 A T 1: 86,354,696 (GRCm39) I202F possibly damaging Het
Tinagl1 C T 4: 130,060,694 (GRCm39) probably null Het
Tlr4 T A 4: 66,757,673 (GRCm39) N155K probably damaging Het
Tmem245 T C 4: 56,906,261 (GRCm39) Q548R probably benign Het
Topbp1 T A 9: 103,186,061 (GRCm39) F68I probably damaging Het
Trim67 G T 8: 125,520,730 (GRCm39) A31S probably damaging Het
Triobp C T 15: 78,878,326 (GRCm39) H1750Y possibly damaging Het
Ttn A C 2: 76,778,553 (GRCm39) M1316R unknown Het
Usp40 T C 1: 87,906,190 (GRCm39) T682A probably benign Het
Wfs1 A T 5: 37,128,953 (GRCm39) D272E probably benign Het
Zfp763 A T 17: 33,238,473 (GRCm39) M224K probably benign Het
Other mutations in Pdgfa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00329:Pdgfa APN 5 138,974,216 (GRCm39) splice site probably benign
IGL02219:Pdgfa APN 5 138,971,950 (GRCm39) missense probably damaging 1.00
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
R8992:Pdgfa UTSW 5 138,971,977 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTGCCTGATCAACGACCAAG -3'
(R):5'- CACCTGTATATGCCAACATTCAG -3'

Sequencing Primer
(F):5'- TGCCTGATCAACGACCAAGAGAAG -3'
(R):5'- TAGACCCGGAAGTGTCTATGCAC -3'
Posted On 2020-10-20