Incidental Mutation 'R0629:Pdgfrb'
ID 57789
Institutional Source Beutler Lab
Gene Symbol Pdgfrb
Ensembl Gene ENSMUSG00000024620
Gene Name platelet derived growth factor receptor, beta polypeptide
Synonyms CD140b, Pdgfr
MMRRC Submission 038818-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0629 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 61178222-61218133 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 61211720 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000110929 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025522] [ENSMUST00000115274]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000025522
SMART Domains Protein: ENSMUSP00000025522
Gene: ENSMUSG00000024620

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 null
Transcript: ENSMUST00000115274
SMART Domains Protein: ENSMUSP00000110929
Gene: ENSMUSG00000024620

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 0.9491 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.6%
Validation Efficiency 100% (66/66)
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
Aars2 A T 17: 45,818,473 (GRCm39) D86V probably damaging Het
Adamts14 G A 10: 61,047,403 (GRCm39) Q733* probably null Het
Adcy10 A G 1: 165,370,674 (GRCm39) D651G probably damaging Het
Apcdd1 T A 18: 63,067,041 (GRCm39) C52S probably damaging Het
Bclaf1 T C 10: 20,209,172 (GRCm39) S463P probably damaging Het
Cabcoco1 T C 10: 68,352,108 (GRCm39) Y68C probably damaging Het
Cacna1f G A X: 7,486,673 (GRCm39) S888N probably damaging Het
Cacna1g A G 11: 94,300,369 (GRCm39) C2134R possibly damaging Het
Cdc37 A C 9: 21,052,064 (GRCm39) M325R possibly damaging Het
Clca3a2 T A 3: 144,778,000 (GRCm39) M762L probably benign Het
Cntn3 C T 6: 102,180,937 (GRCm39) V753M probably damaging Het
Col6a6 A T 9: 105,604,364 (GRCm39) probably benign Het
Dscaml1 A G 9: 45,632,716 (GRCm39) D1194G probably damaging Het
Egfr G A 11: 16,819,333 (GRCm39) G288S probably damaging Het
Fbxl17 G T 17: 63,778,409 (GRCm39) N19K probably damaging Het
Fmo3 A G 1: 162,785,796 (GRCm39) probably benign Het
Frmd6 T C 12: 70,930,536 (GRCm39) Y219H probably damaging Het
Fuca1 T C 4: 135,652,955 (GRCm39) V193A possibly damaging Het
Gm7461 C T 8: 4,727,769 (GRCm39) noncoding transcript Het
Gpc5 T A 14: 115,789,651 (GRCm39) N508K possibly damaging Het
Iqch A T 9: 63,332,664 (GRCm39) D1019E probably benign Het
Isyna1 A G 8: 71,047,358 (GRCm39) Y27C probably damaging Het
Itgb8 T G 12: 119,166,216 (GRCm39) H105P probably benign Het
Kbtbd11 C T 8: 15,077,572 (GRCm39) P57L probably benign Het
Kcns3 A C 12: 11,142,559 (GRCm39) C47G probably damaging Het
Kif21b A T 1: 136,099,895 (GRCm39) probably null Het
Lama3 A T 18: 12,552,302 (GRCm39) H418L possibly damaging Het
Lrit3 A G 3: 129,581,951 (GRCm39) Y679H probably damaging Het
Lrrc19 T A 4: 94,526,489 (GRCm39) D356V probably damaging Het
Morc2b A G 17: 33,354,781 (GRCm39) M997T probably benign Het
Mroh9 T C 1: 162,888,205 (GRCm39) H290R possibly damaging Het
Mtcl1 A T 17: 66,645,137 (GRCm39) S1886T possibly damaging Het
Muc20 T C 16: 32,613,791 (GRCm39) T529A possibly damaging Het
Myo7a A C 7: 97,734,673 (GRCm39) L607R probably damaging Het
Myom2 T A 8: 15,119,783 (GRCm39) F180I probably damaging Het
Myt1l G A 12: 29,861,484 (GRCm39) E89K unknown Het
Nek2 A G 1: 191,563,429 (GRCm39) N431S probably benign Het
Oprm1 A T 10: 6,782,604 (GRCm39) probably null Het
Or2aj4 A T 16: 19,384,730 (GRCm39) V301E possibly damaging Het
Or5t7 T A 2: 86,506,873 (GRCm39) H268L possibly damaging Het
Oxsr1 A G 9: 119,070,850 (GRCm39) probably benign Het
Pasd1 G C X: 70,982,379 (GRCm39) R296P possibly damaging Het
Proser1 C A 3: 53,386,485 (GRCm39) P789Q probably benign Het
Ptgs2 A G 1: 149,976,788 (GRCm39) Q7R probably benign Het
Rab3d A G 9: 21,825,982 (GRCm39) V144A probably benign Het
Ralgapb T A 2: 158,281,467 (GRCm39) L167H probably damaging Het
Ranbp3 A G 17: 57,015,200 (GRCm39) T301A possibly damaging Het
Rasgrf1 G A 9: 89,866,322 (GRCm39) V587M probably damaging Het
Sec16b A G 1: 157,392,433 (GRCm39) probably benign Het
Sin3b T C 8: 73,480,164 (GRCm39) probably benign Het
Slc10a2 T C 8: 5,148,562 (GRCm39) S128G probably benign Het
Tbl1xr1 G A 3: 22,264,565 (GRCm39) V507I probably benign Het
Tmem8b T G 4: 43,669,896 (GRCm39) probably null Het
Trak1 A T 9: 121,196,233 (GRCm39) T22S probably benign Het
Trim30d A G 7: 104,136,862 (GRCm39) I114T probably damaging Het
Ttc13 A T 8: 125,401,105 (GRCm39) S624T probably damaging Het
Ttn T C 2: 76,658,474 (GRCm39) probably benign Het
Vipr1 T A 9: 121,489,237 (GRCm39) Y99* probably null Het
Vmn1r210 T C 13: 23,012,044 (GRCm39) K81E probably damaging Het
Wwc1 T C 11: 35,744,299 (GRCm39) Y841C probably benign Het
Xrcc4 A G 13: 90,149,024 (GRCm39) probably benign Het
Zdhhc22 A T 12: 87,035,071 (GRCm39) I127N probably damaging Het
Zdhhc7 A G 8: 120,814,785 (GRCm39) L8P possibly damaging Het
Zfp664 C A 5: 124,962,659 (GRCm39) L18I 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
R0087:Pdgfrb UTSW 18 61,194,585 (GRCm39) missense probably damaging 1.00
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
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'- AGCTTATGGTACACGCAAAGTAACCC -3'
(R):5'- CTCGGTGAACACACTGGATCAAGG -3'

Sequencing Primer
(F):5'- GTAACCCATAACCCTCTGCTC -3'
(R):5'- AAGACCCTCTGGGTCAGC -3'
Posted On 2013-07-11