Incidental Mutation 'R1864:Pdgfrb'
ID 208565
Institutional Source Beutler Lab
Gene Symbol Pdgfrb
Ensembl Gene ENSMUSG00000024620
Gene Name platelet derived growth factor receptor, beta polypeptide
Synonyms CD140b, Pdgfr
MMRRC Submission 039887-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1864 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 61178222-61218133 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 61204789 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 550 (V550I)
Ref Sequence ENSEMBL: ENSMUSP00000110929 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025522] [ENSMUST00000115274]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000025522
AA Change: V546I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000025522
Gene: ENSMUSG00000024620
AA Change: V546I

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 benign
Transcript: ENSMUST00000115274
AA Change: V550I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000110929
Gene: ENSMUSG00000024620
AA Change: V550I

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
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 95.1%
  • 20x: 92.1%
Validation Efficiency
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: 112 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg2 G A X: 159,265,347 (GRCm39) M532I probably benign Het
Agtpbp1 A G 13: 59,598,016 (GRCm39) Y1198H possibly damaging Het
Ahcyl2 G A 6: 29,908,354 (GRCm39) V575M probably damaging Het
Akp3 TCACCACCACCACCACCACCACCACCACCAC TCACCACCACCACCACCACCACCACCAC 1: 87,055,489 (GRCm39) probably benign Het
Ankrd50 A T 3: 38,508,610 (GRCm39) N329K probably benign Het
Ano4 C A 10: 88,807,253 (GRCm39) G741V probably damaging Het
Anxa1 T C 19: 20,357,053 (GRCm39) D191G probably benign Het
Apc2 C T 10: 80,149,482 (GRCm39) T1512I probably damaging Het
Aph1b A T 9: 66,701,395 (GRCm39) C81S probably benign Het
Arhgap21 T C 2: 20,866,015 (GRCm39) E893G probably damaging Het
Arhgef28 A T 13: 98,130,640 (GRCm39) H399Q probably benign Het
Asic5 A G 3: 81,919,294 (GRCm39) E304G probably benign Het
B4galnt4 A G 7: 140,650,446 (GRCm39) Y771C probably damaging Het
Birc2 G T 9: 7,819,518 (GRCm39) Q465K probably benign Het
Btla C T 16: 45,070,737 (GRCm39) T232I probably damaging Het
Ccl7 G T 11: 81,937,378 (GRCm39) K37N probably benign Het
Cdk17 T C 10: 93,061,967 (GRCm39) V233A probably damaging Het
Cenatac A G 9: 44,329,018 (GRCm39) C66R probably damaging Het
Cilp2 C A 8: 70,333,973 (GRCm39) Q1008H probably damaging Het
Clcn1 T A 6: 42,282,475 (GRCm39) D442E probably damaging Het
Clcnka T C 4: 141,120,113 (GRCm39) T269A probably damaging Het
Col12a1 A T 9: 79,534,385 (GRCm39) probably null Het
Cts6 A G 13: 61,349,393 (GRCm39) I105T probably benign Het
Cyp3a25 T C 5: 145,931,739 (GRCm39) D123G probably damaging Het
D630003M21Rik A T 2: 158,045,105 (GRCm39) L808Q probably damaging Het
Ddrgk1 A T 2: 130,496,215 (GRCm39) I270N probably damaging Het
Dhx15 T C 5: 52,342,043 (GRCm39) T92A possibly damaging Het
Dhx32 A T 7: 133,339,025 (GRCm39) C197S probably benign Het
Diaph2 G A X: 128,860,876 (GRCm39) R473Q probably damaging Het
Dnd1 A G 18: 36,899,057 (GRCm39) C11R possibly damaging Het
Dock1 A C 7: 134,748,236 (GRCm39) D1566A probably benign Het
Drp2 A G X: 133,327,864 (GRCm39) I43V probably benign Het
Ecm2 T C 13: 49,683,621 (GRCm39) V533A probably benign Het
Ecpas T A 4: 58,849,942 (GRCm39) H427L possibly damaging Het
Emilin1 A G 5: 31,075,934 (GRCm39) E725G probably damaging Het
Eml2 A G 7: 18,935,803 (GRCm39) Y487C probably damaging Het
Epg5 T A 18: 78,018,246 (GRCm39) L919H probably damaging Het
Fam187a T A 11: 102,776,837 (GRCm39) S214T probably damaging Het
Flna T C X: 73,283,869 (GRCm39) T521A probably benign Het
Foxi1 T A 11: 34,157,531 (GRCm39) I165F probably damaging Het
Fxr2 A T 11: 69,543,103 (GRCm39) K633N probably benign Het
Gdpd5 T C 7: 99,098,206 (GRCm39) I209T probably benign Het
Gmpr G T 13: 45,696,101 (GRCm39) V278F probably damaging Het
Grm7 A T 6: 111,057,384 (GRCm39) D328V probably benign Het
Heatr6 T C 11: 83,660,056 (GRCm39) S534P probably damaging Het
Heph A G X: 95,573,092 (GRCm39) T792A probably damaging Het
Hipk2 T A 6: 38,695,870 (GRCm39) probably null Het
Hps3 T A 3: 20,074,123 (GRCm39) probably null Het
Hspa5 T C 2: 34,664,553 (GRCm39) F336L probably damaging Het
Insc T C 7: 114,441,413 (GRCm39) I409T probably benign Het
Kcnj8 T A 6: 142,515,966 (GRCm39) H47L probably damaging Het
Kcnma1 T A 14: 23,853,230 (GRCm39) Q108L probably damaging Het
Klc3 A G 7: 19,131,966 (GRCm39) V137A probably damaging Het
Lcn2 T C 2: 32,275,434 (GRCm39) T194A possibly damaging Het
Lgr4 T A 2: 109,841,742 (GRCm39) F576I possibly damaging Het
Lypd6b A G 2: 49,837,459 (GRCm39) I144V possibly damaging Het
Mctp1 G A 13: 76,533,267 (GRCm39) C205Y possibly damaging Het
Mitf A T 6: 97,987,383 (GRCm39) N159I probably damaging Het
Morc1 T C 16: 48,412,893 (GRCm39) I678T probably benign Het
Muc4 A G 16: 32,576,625 (GRCm39) probably benign Het
Myo7a T C 7: 97,701,463 (GRCm39) Y2115C probably damaging Het
Myof T C 19: 37,975,153 (GRCm39) I182V probably benign Het
Ncor1 A G 11: 62,272,245 (GRCm39) V635A probably damaging Het
Neb G T 2: 52,102,772 (GRCm39) Y4257* probably null Het
Npr2 T A 4: 43,641,258 (GRCm39) V428E probably benign Het
Nufip2 A G 11: 77,583,124 (GRCm39) D346G probably damaging Het
Obsl1 G A 1: 75,469,753 (GRCm39) S1088F probably benign Het
Or10s1 T G 9: 39,986,081 (GRCm39) I163M possibly damaging Het
Or2ag1 T C 7: 106,313,030 (GRCm39) N286S possibly damaging Het
Or4c127 T A 2: 89,832,825 (GRCm39) V25E probably benign Het
Or4k38 C T 2: 111,166,052 (GRCm39) V124M possibly damaging Het
Or5ac22 A G 16: 59,135,378 (GRCm39) Y131H probably damaging Het
Or8b9 T A 9: 37,766,560 (GRCm39) Y149N probably damaging Het
Pi4ka A T 16: 17,185,389 (GRCm39) L237* probably null Het
Pla2r1 G A 2: 60,259,055 (GRCm39) T1111M probably benign Het
Plxnd1 A T 6: 115,946,402 (GRCm39) probably null Het
Pnp G C 14: 51,185,430 (GRCm39) A67P probably benign Het
Ppp1r3a A T 6: 14,718,404 (GRCm39) S837T probably damaging Het
Ppp2r5e C G 12: 75,516,341 (GRCm39) A239P probably damaging Het
Prom2 T C 2: 127,381,707 (GRCm39) D203G probably benign Het
Pum1 T C 4: 130,478,836 (GRCm39) V486A possibly damaging Het
Rnf115 A G 3: 96,635,153 (GRCm39) probably benign Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Rusc2 C A 4: 43,421,719 (GRCm39) A713D possibly damaging Het
Ryr3 A T 2: 112,560,673 (GRCm39) H3009Q possibly damaging Het
Serpina1d C A 12: 103,734,256 (GRCm39) C16F probably benign Het
Serpinf2 G T 11: 75,328,309 (GRCm39) R80S possibly damaging Het
Sh2d4a C A 8: 68,781,967 (GRCm39) Q192K probably benign Het
Sh3d21 T A 4: 126,044,729 (GRCm39) probably null Het
Sh3rf2 T A 18: 42,187,046 (GRCm39) L55Q probably damaging Het
Shc4 T C 2: 125,481,287 (GRCm39) D255G probably damaging Het
Skint2 T A 4: 112,483,106 (GRCm39) H170Q probably benign Het
Slc29a4 A G 5: 142,703,509 (GRCm39) Y261C probably damaging Het
Slc35a5 A T 16: 44,964,071 (GRCm39) N102K possibly damaging Het
Slc38a3 A T 9: 107,533,152 (GRCm39) I307K probably damaging Het
Sv2b A T 7: 74,773,828 (GRCm39) S548T probably benign Het
Tgfbi T C 13: 56,780,694 (GRCm39) S524P probably benign Het
Tgm5 T C 2: 120,905,699 (GRCm39) D152G probably damaging Het
Tmem213 A G 6: 38,086,487 (GRCm39) T48A possibly damaging Het
Tmem37 A G 1: 119,995,952 (GRCm39) S42P probably damaging Het
Trpm1 A G 7: 63,917,764 (GRCm39) K1258R probably damaging Het
Ttc22 T C 4: 106,494,003 (GRCm39) V321A probably benign Het
Ube2c C A 2: 164,611,943 (GRCm39) A15E probably benign Het
Ubn2 T A 6: 38,417,425 (GRCm39) D154E possibly damaging Het
Umod A T 7: 119,062,478 (GRCm39) L631M probably damaging Het
Ush1c G A 7: 45,868,816 (GRCm39) Q373* probably null Het
Vmn1r238 T A 18: 3,123,040 (GRCm39) R125* probably null Het
Wnt8b T C 19: 44,482,029 (GRCm39) L14P probably benign Het
Wrn G A 8: 33,778,892 (GRCm39) A563V probably damaging Het
Zfp268 A T 4: 145,348,998 (GRCm39) Q145L possibly damaging Het
Zfp608 A G 18: 55,030,983 (GRCm39) S986P probably benign Het
Znrf3 T C 11: 5,233,373 (GRCm39) H228R possibly 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
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
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'- CAGCTATCTAGGCAGTAAGAGC -3'
(R):5'- AGGAGTGCTGGACCAATTGC -3'

Sequencing Primer
(F):5'- ATCTAGGCAGTAAGAGCTTATGTGC -3'
(R):5'- TGCTGGACCAATTGCACCAG -3'
Posted On 2014-06-30