Incidental Mutation 'R6009:Pdgfa'
ID479643
Institutional Source Beutler Lab
Gene Symbol Pdgfa
Ensembl Gene ENSMUSG00000025856
Gene Nameplatelet derived growth factor, alpha
Synonyms
MMRRC Submission 044186-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R6009 (G1)
Quality Score225.009
Status Validated
Chromosome5
Chromosomal Location138976014-138997370 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 138979199 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 176 (E176G)
Ref Sequence ENSEMBL: ENSMUSP00000106522 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046901] [ENSMUST00000076095] [ENSMUST00000110896] [ENSMUST00000110897]
Predicted Effect probably damaging
Transcript: ENSMUST00000046901
AA Change: E176G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038870
Gene: ENSMUSG00000025856
AA Change: E176G

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: E176G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075463
Gene: ENSMUSG00000025856
AA Change: E176G

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
PDGF 94 181 2.98e-45 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110896
AA Change: E176G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106521
Gene: ENSMUSG00000025856
AA Change: E176G

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
PDGF 94 181 2.98e-45 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110897
AA Change: E176G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106522
Gene: ENSMUSG00000025856
AA Change: E176G

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
PDGF 94 181 2.98e-45 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144934
Meta Mutation Damage Score 0.3679 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.3%
  • 20x: 91.5%
Validation Efficiency 100% (53/53)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 A G 14: 29,978,497 probably benign Het
Afap1 T C 5: 35,997,560 S683P probably damaging Het
Chid1 T A 7: 141,529,580 D131V probably damaging Het
Clstn2 C T 9: 97,456,526 R860Q probably benign Het
Crlf1 A C 8: 70,503,479 K403T probably damaging Het
Ctdspl2 T G 2: 121,988,838 N201K probably benign Het
Cyb561a3 G A 19: 10,586,808 V171I possibly damaging Het
Dazap1 T C 10: 80,285,304 probably benign Het
Dbf4 G T 5: 8,403,718 Q235K probably damaging Het
Dgka C T 10: 128,723,679 G471D probably damaging Het
Fam13b A T 18: 34,497,405 F100Y possibly damaging Het
Flii A T 11: 60,720,757 L376* probably null Het
Fnip1 G T 11: 54,502,271 G487V probably damaging Het
Gm7247 C T 14: 51,364,348 S26F probably benign Het
Golgb1 G T 16: 36,914,959 A1523S probably damaging Het
Gstm4 A G 3: 108,043,343 V114A possibly damaging Het
Gtf3c1 A G 7: 125,647,430 F1569S possibly damaging Het
Gtf3c5 A T 2: 28,571,165 D312E probably benign Het
Gtpbp1 G A 15: 79,712,096 V149M probably damaging Het
Hoxa7 C T 6: 52,217,387 V7M probably damaging Het
Il17f C T 1: 20,779,286 probably null Het
Ints9 T C 14: 65,008,082 V263A probably benign Het
Kansl1l C T 1: 66,735,600 C689Y probably benign Het
Kctd7 G A 5: 130,145,198 G39E probably damaging Het
Krt82 T A 15: 101,545,105 D282V probably benign Het
Lemd1 G T 1: 132,228,252 E11* probably null Het
Maml2 A G 9: 13,620,998 T503A probably benign Het
Mief2 A G 11: 60,731,659 T352A probably benign Het
Msantd1 C A 5: 34,917,705 T37K probably benign Het
Mtus2 A G 5: 148,306,652 E94G probably damaging Het
Naaa A T 5: 92,259,581 L353Q probably benign Het
Nek5 T C 8: 22,120,822 E55G probably benign Het
Npat T C 9: 53,563,449 M847T probably damaging Het
Nus1 G A 10: 52,433,443 V268I probably benign Het
Olfr550 A G 7: 102,578,594 N33S possibly damaging Het
Parn C T 16: 13,667,564 D23N probably damaging Het
Plcl1 T A 1: 55,696,246 F249I probably damaging Het
Plscr5 C T 9: 92,204,435 Q153* probably null Het
Polr2b T C 5: 77,320,252 I133T probably benign Het
Polr3c A G 3: 96,713,614 S463P probably damaging Het
Pprc1 A T 19: 46,071,732 I1530L probably damaging Het
Prex1 C T 2: 166,581,984 S996N probably damaging Het
Rnf169 C A 7: 99,927,123 R291S possibly damaging Het
Setd5 A G 6: 113,110,519 K127R probably damaging Het
Slc25a26 G T 6: 94,510,826 V89L probably benign Het
Slc4a10 A G 2: 62,046,690 T16A probably benign Het
Smchd1 A T 17: 71,440,956 H430Q probably damaging Het
Ttll7 A T 3: 146,934,535 D503V probably damaging Het
Vav2 A T 2: 27,271,900 probably null Het
Zfp345 A T 2: 150,472,517 C367S probably damaging Het
Zfp651 T C 9: 121,762,871 S86P possibly damaging Het
Zfp964 T A 8: 69,663,456 H235Q possibly damaging Het
Other mutations in Pdgfa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00329:Pdgfa APN 5 138988461 splice site probably benign
IGL02219:Pdgfa APN 5 138986195 missense probably damaging 1.00
R1852:Pdgfa UTSW 5 138979172 missense probably benign 0.31
R3039:Pdgfa UTSW 5 138986359 missense probably benign 0.10
R4368:Pdgfa UTSW 5 138986306 missense probably damaging 1.00
R4647:Pdgfa UTSW 5 138979184 missense probably benign 0.14
R4773:Pdgfa UTSW 5 138993296 missense probably benign 0.03
R5262:Pdgfa UTSW 5 138993294 missense probably benign 0.06
R5317:Pdgfa UTSW 5 138988347 critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- AAGCTAGTGTGGACAGCTGG -3'
(R):5'- AGCTCAAGGGAAGATGCCTTG -3'

Sequencing Primer
(F):5'- AAATCCAGGCCTGCTGACTTG -3'
(R):5'- ATGCCTTGAAGAGAGTTAGGTATC -3'
Posted On2017-06-26