Incidental Mutation 'R0087:Pdgfrb'
ID 19986
Institutional Source Beutler Lab
Gene Symbol Pdgfrb
Ensembl Gene ENSMUSG00000024620
Gene Name platelet derived growth factor receptor, beta polypeptide
Synonyms CD140b, Pdgfr
MMRRC Submission 038374-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0087 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 18
Chromosomal Location 61178222-61218133 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 61194585 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 121 (I121F)
Ref Sequence ENSEMBL: ENSMUSP00000110929 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025522] [ENSMUST00000115274]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000025522
AA Change: I117F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025522
Gene: ENSMUSG00000024620
AA Change: I117F

DomainStartEndE-ValueType
low complexity region 10 24 N/A INTRINSIC
IG 38 120 5.58e-2 SMART
IGc2 225 297 2.83e-12 SMART
IG_like 330 402 1.47e0 SMART
Pfam:Ig_2 415 524 5.6e-2 PFAM
transmembrane domain 534 556 N/A INTRINSIC
TyrKc 600 958 1.11e-135 SMART
low complexity region 1063 1083 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000115274
AA Change: I121F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110929
Gene: ENSMUSG00000024620
AA Change: I121F

DomainStartEndE-ValueType
low complexity region 14 28 N/A INTRINSIC
IG 42 124 5.58e-2 SMART
IGc2 229 301 2.83e-12 SMART
IG_like 334 406 1.47e0 SMART
transmembrane domain 538 560 N/A INTRINSIC
TyrKc 604 962 1.11e-135 SMART
low complexity region 1067 1087 N/A INTRINSIC
Meta Mutation Damage Score 0.1461 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 93.5%
  • 20x: 82.3%
Validation Efficiency 86% (59/69)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. This gene is flanked on chromosome 5 by the genes for granulocyte-macrophage colony-stimulating factor and macrophage-colony stimulating factor receptor; all three genes may be implicated in the 5-q syndrome. A translocation between chromosomes 5 and 12, that fuses this gene to that of the translocation, ETV6, leukemia gene, results in chronic myeloproliferative disorder with eosinophilia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants die perinatally with internal bleeding, thrombocytopenia, anemia and kidney defects. A frameshift mutation results in neonatal lethals with edema and hemorrhaging; several point mutations show cardiovascular abnormalities. [provided by MGI curators]
Allele List at MGI

All alleles(25) : Targeted(23) Gene trapped(2)

Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add3 T A 19: 53,215,038 (GRCm39) L71Q probably damaging Het
Adgrv1 T A 13: 81,535,070 (GRCm39) I5732F probably damaging Het
Adss2 A T 1: 177,598,788 (GRCm39) V330E probably benign Het
Agps T A 2: 75,739,979 (GRCm39) Y488N probably damaging Het
Ap3s1 A T 18: 46,891,106 (GRCm39) R66S probably damaging Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
Atp2a2 C T 5: 122,599,024 (GRCm39) V593I probably benign Het
Chrna6 C T 8: 27,897,014 (GRCm39) V288M probably damaging Het
Col4a2 C T 8: 11,491,296 (GRCm39) L1232F probably benign Het
Dcaf1 A G 9: 106,740,288 (GRCm39) N1225D probably damaging Het
Degs1 A G 1: 182,106,875 (GRCm39) I128T probably benign Het
Dnaaf11 T C 15: 66,341,824 (GRCm39) T91A probably benign Het
Dnah5 A T 15: 28,350,759 (GRCm39) T2594S probably damaging Het
Dnah8 G T 17: 30,974,093 (GRCm39) R2826L probably damaging Het
Elf3 A G 1: 135,184,875 (GRCm39) Y104H probably damaging Het
Fam222b C A 11: 78,044,718 (GRCm39) T93N probably benign Het
Fbxw26 A G 9: 109,554,006 (GRCm39) I211T probably benign Het
Fcho2 T C 13: 98,871,594 (GRCm39) T541A probably benign Het
Flg2 T C 3: 93,109,738 (GRCm39) S589P unknown Het
Foxj3 T A 4: 119,483,597 (GRCm39) V589E unknown Het
Gria1 A G 11: 57,208,538 (GRCm39) Y742C probably damaging Het
Inpp5d T C 1: 87,642,860 (GRCm39) S672P probably damaging Het
Lrrc19 A C 4: 94,529,009 (GRCm39) F91C probably damaging Het
Mppe1 A G 18: 67,358,775 (GRCm39) *398R probably null Het
Mroh3 T C 1: 136,118,541 (GRCm39) I561V probably benign Het
Myh11 C A 16: 14,041,883 (GRCm39) Q720H probably damaging Het
Nbea G T 3: 55,998,444 (GRCm39) T121K possibly damaging Het
Nbr1 A C 11: 101,455,519 (GRCm39) D91A probably benign Het
Ncam2 C A 16: 81,231,789 (GRCm39) N84K probably benign Het
Or4c35 T C 2: 89,808,475 (GRCm39) Y118H probably damaging Het
Or51ac3 A T 7: 103,213,569 (GRCm39) C306S probably benign Het
Or52h9 A G 7: 104,202,869 (GRCm39) I248V possibly damaging Het
Or52z13 A G 7: 103,246,928 (GRCm39) Y135C probably benign Het
Or6b6 A G 7: 106,571,323 (GRCm39) V76A probably benign Het
Peak1 A T 9: 56,165,609 (GRCm39) I773N probably damaging Het
Pfkfb4 G T 9: 108,836,769 (GRCm39) V155F probably damaging Het
Pkm C T 9: 59,585,382 (GRCm39) R455* probably null Het
Plbd2 C A 5: 120,632,550 (GRCm39) E151* probably null Het
Pld5 G A 1: 175,812,025 (GRCm39) T353M probably damaging Het
Psme2b A T 11: 48,836,544 (GRCm39) D134E possibly damaging Het
Rida T A 15: 34,488,772 (GRCm39) D40V possibly damaging Het
Rnf126 A T 10: 79,595,068 (GRCm39) H265Q probably damaging Het
Rock2 C A 12: 16,978,967 (GRCm39) Q86K probably benign Het
Serpinb1b A T 13: 33,269,302 (GRCm39) T12S probably benign Het
Slco6c1 T A 1: 97,046,303 (GRCm39) Q277L probably benign Het
Spmap2 A T 10: 79,421,785 (GRCm39) Y144* probably null Het
Sptlc2 T A 12: 87,415,892 (GRCm39) H45L probably benign Het
Srsf4 A G 4: 131,627,641 (GRCm39) probably benign Het
Sspo A G 6: 48,454,719 (GRCm39) S2969G probably damaging Het
Steap1 C T 5: 5,786,664 (GRCm39) G258R probably damaging Het
Stk19 A T 17: 35,055,851 (GRCm39) M1K probably null Het
Stk-ps2 C A 1: 46,069,049 (GRCm39) noncoding transcript Het
Taf1c C T 8: 120,327,726 (GRCm39) R332H probably damaging Het
Thbs4 T A 13: 92,891,743 (GRCm39) T791S probably damaging Het
Tjap1 A G 17: 46,574,652 (GRCm39) L21P probably damaging Het
Tmem145 A G 7: 25,007,268 (GRCm39) Y148C probably damaging Het
Tmem267 T A 13: 120,070,810 (GRCm39) V155E probably benign Het
Tns1 T A 1: 73,956,076 (GRCm39) H549L possibly damaging Het
Tyro3 T G 2: 119,632,182 (GRCm39) I83S probably benign Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Vmn1r53 A T 6: 90,200,413 (GRCm39) C304S probably benign Het
Vwf G A 6: 125,622,917 (GRCm39) M1761I probably benign Het
Zfp276 T C 8: 123,991,786 (GRCm39) Y445H probably damaging Het
Zfp407 A T 18: 84,578,536 (GRCm39) I859N probably damaging Het
Other mutations in Pdgfrb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00553:Pdgfrb APN 18 61,202,008 (GRCm39) missense probably benign 0.20
IGL01396:Pdgfrb APN 18 61,205,736 (GRCm39) missense probably damaging 1.00
IGL02377:Pdgfrb APN 18 61,213,404 (GRCm39) missense probably damaging 1.00
IGL02435:Pdgfrb APN 18 61,197,998 (GRCm39) critical splice donor site probably null
IGL03397:Pdgfrb APN 18 61,212,753 (GRCm39) missense probably benign 0.28
R0021:Pdgfrb UTSW 18 61,197,998 (GRCm39) critical splice donor site probably benign
R0021:Pdgfrb UTSW 18 61,197,998 (GRCm39) critical splice donor site probably benign
R0119:Pdgfrb UTSW 18 61,201,924 (GRCm39) missense probably benign 0.06
R0299:Pdgfrb UTSW 18 61,201,924 (GRCm39) missense probably benign 0.06
R0532:Pdgfrb UTSW 18 61,216,337 (GRCm39) missense probably damaging 1.00
R0570:Pdgfrb UTSW 18 61,210,775 (GRCm39) missense probably benign 0.00
R0629:Pdgfrb UTSW 18 61,211,720 (GRCm39) critical splice donor site probably null
R0650:Pdgfrb UTSW 18 61,212,780 (GRCm39) missense probably benign 0.00
R0853:Pdgfrb UTSW 18 61,213,399 (GRCm39) missense probably damaging 1.00
R1165:Pdgfrb UTSW 18 61,197,074 (GRCm39) missense probably benign 0.01
R1342:Pdgfrb UTSW 18 61,198,952 (GRCm39) nonsense probably null
R1740:Pdgfrb UTSW 18 61,214,905 (GRCm39) missense possibly damaging 0.93
R1808:Pdgfrb UTSW 18 61,201,174 (GRCm39) missense probably benign
R1864:Pdgfrb UTSW 18 61,204,789 (GRCm39) missense probably benign 0.00
R1960:Pdgfrb UTSW 18 61,198,855 (GRCm39) missense probably benign 0.05
R1961:Pdgfrb UTSW 18 61,194,577 (GRCm39) missense possibly damaging 0.49
R1970:Pdgfrb UTSW 18 61,199,566 (GRCm39) splice site probably benign
R2011:Pdgfrb UTSW 18 61,194,566 (GRCm39) missense probably benign 0.01
R2012:Pdgfrb UTSW 18 61,194,566 (GRCm39) missense probably benign 0.01
R2018:Pdgfrb UTSW 18 61,216,406 (GRCm39) missense possibly damaging 0.84
R2153:Pdgfrb UTSW 18 61,205,828 (GRCm39) missense probably damaging 1.00
R2497:Pdgfrb UTSW 18 61,211,700 (GRCm39) missense possibly damaging 0.58
R2846:Pdgfrb UTSW 18 61,197,088 (GRCm39) missense probably benign 0.00
R3776:Pdgfrb UTSW 18 61,214,992 (GRCm39) missense probably benign 0.00
R3779:Pdgfrb UTSW 18 61,205,738 (GRCm39) missense probably damaging 1.00
R3816:Pdgfrb UTSW 18 61,212,017 (GRCm39) missense probably damaging 1.00
R3978:Pdgfrb UTSW 18 61,206,757 (GRCm39) missense probably damaging 1.00
R4259:Pdgfrb UTSW 18 61,210,703 (GRCm39) missense probably benign 0.00
R4261:Pdgfrb UTSW 18 61,210,703 (GRCm39) missense probably benign 0.00
R4327:Pdgfrb UTSW 18 61,204,792 (GRCm39) missense possibly damaging 0.83
R4329:Pdgfrb UTSW 18 61,204,792 (GRCm39) missense possibly damaging 0.83
R4598:Pdgfrb UTSW 18 61,201,829 (GRCm39) missense probably benign 0.03
R4668:Pdgfrb UTSW 18 61,197,185 (GRCm39) missense probably damaging 1.00
R4761:Pdgfrb UTSW 18 61,212,772 (GRCm39) missense probably damaging 1.00
R4787:Pdgfrb UTSW 18 61,212,759 (GRCm39) missense probably damaging 1.00
R4828:Pdgfrb UTSW 18 61,206,315 (GRCm39) missense probably damaging 0.98
R5030:Pdgfrb UTSW 18 61,198,207 (GRCm39) missense probably benign 0.13
R5033:Pdgfrb UTSW 18 61,210,740 (GRCm39) missense probably damaging 1.00
R5447:Pdgfrb UTSW 18 61,201,180 (GRCm39) missense probably damaging 1.00
R6224:Pdgfrb UTSW 18 61,215,011 (GRCm39) nonsense probably null
R6807:Pdgfrb UTSW 18 61,211,721 (GRCm39) critical splice donor site probably null
R6858:Pdgfrb UTSW 18 61,198,219 (GRCm39) missense probably benign 0.01
R7017:Pdgfrb UTSW 18 61,214,076 (GRCm39) missense probably benign 0.00
R7089:Pdgfrb UTSW 18 61,206,315 (GRCm39) missense probably damaging 1.00
R7174:Pdgfrb UTSW 18 61,199,587 (GRCm39) missense probably benign
R7374:Pdgfrb UTSW 18 61,204,780 (GRCm39) missense possibly damaging 0.64
R7496:Pdgfrb UTSW 18 61,212,004 (GRCm39) missense possibly damaging 0.71
R7565:Pdgfrb UTSW 18 61,216,336 (GRCm39) missense probably damaging 1.00
R7615:Pdgfrb UTSW 18 61,197,118 (GRCm39) missense probably benign 0.00
R7691:Pdgfrb UTSW 18 61,194,340 (GRCm39) missense probably benign 0.05
R7884:Pdgfrb UTSW 18 61,205,730 (GRCm39) missense probably damaging 1.00
R8481:Pdgfrb UTSW 18 61,198,814 (GRCm39) missense probably benign 0.03
R8735:Pdgfrb UTSW 18 61,197,049 (GRCm39) missense probably benign 0.26
R8737:Pdgfrb UTSW 18 61,214,073 (GRCm39) missense probably damaging 1.00
R9067:Pdgfrb UTSW 18 61,201,291 (GRCm39) missense probably null 0.93
R9106:Pdgfrb UTSW 18 61,179,100 (GRCm39) critical splice acceptor site probably null
R9161:Pdgfrb UTSW 18 61,197,053 (GRCm39) missense probably damaging 1.00
R9234:Pdgfrb UTSW 18 61,194,300 (GRCm39) missense probably null 0.00
R9380:Pdgfrb UTSW 18 61,197,920 (GRCm39) missense probably damaging 1.00
R9452:Pdgfrb UTSW 18 61,198,798 (GRCm39) missense possibly damaging 0.77
R9491:Pdgfrb UTSW 18 61,212,056 (GRCm39) missense probably damaging 1.00
R9646:Pdgfrb UTSW 18 61,211,721 (GRCm39) critical splice donor site probably null
R9717:Pdgfrb UTSW 18 61,205,787 (GRCm39) nonsense probably null
X0060:Pdgfrb UTSW 18 61,215,048 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTGATGTGGGAACAGATGTCCCAG -3'
(R):5'- TCATTCGATGCTGACAGGGCTG -3'

Sequencing Primer
(F):5'- GGTGCCCTGGCAAGAAG -3'
(R):5'- TTCTTGGAAGGCGAGATCAG -3'
Posted On 2013-04-11