Incidental Mutation 'IGL02377:Pdgfrb'
ID291171
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdgfrb
Ensembl Gene ENSMUSG00000024620
Gene Nameplatelet derived growth factor receptor, beta polypeptide
SynonymsCD140b, Pdgfr
Accession Numbers

Ncbi RefSeq: NM_001146268.1, NM_008809.2; MGI:97531

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02377
Quality Score
Status
Chromosome18
Chromosomal Location61045150-61085061 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 61080332 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Proline at position 916 (Q916P)
Ref Sequence ENSEMBL: ENSMUSP00000110929 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025522] [ENSMUST00000115274]
Predicted Effect probably damaging
Transcript: ENSMUST00000025522
AA Change: Q912P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025522
Gene: ENSMUSG00000024620
AA Change: Q912P

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: Q916P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110929
Gene: ENSMUSG00000024620
AA Change: Q916P

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
Validation Efficiency
MGI Phenotype Strain: 2682393; 2135508
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
4930578C19Rik T A X: 18,447,691 I131F possibly damaging Het
4931423N10Rik T C 2: 23,212,655 probably benign Het
Aatk A T 11: 120,046,863 probably benign Het
Abca15 T C 7: 120,365,910 probably benign Het
App T C 16: 85,082,831 Q138R probably benign Het
Asah2 T A 19: 32,009,414 I529F probably benign Het
Atp8b3 A G 10: 80,520,294 S1195P probably benign Het
Brca1 A G 11: 101,524,323 M134T probably benign Het
Cacna1s T C 1: 136,068,994 L111P probably damaging Het
Capns2 A T 8: 92,901,587 N35Y probably benign Het
Ccne1 A G 7: 38,098,990 probably null Het
Csf1r G T 18: 61,124,468 probably benign Het
Dlg3 A T X: 100,773,401 Y326F possibly damaging Het
Dnah8 T C 17: 30,794,796 V3837A probably damaging Het
Dock10 A G 1: 80,584,994 probably null Het
Emg1 A G 6: 124,704,657 V208A probably benign Het
Eml6 T A 11: 29,777,282 D1280V probably damaging Het
Ep400 T C 5: 110,720,825 D911G unknown Het
Fam171a1 T C 2: 3,223,586 probably null Het
Fcgbp T C 7: 28,106,970 V2121A possibly damaging Het
Fggy G A 4: 95,623,477 probably benign Het
Fignl1 G T 11: 11,802,845 T70K possibly damaging Het
Fndc3b T C 3: 27,620,652 E47G probably damaging Het
Frmd4a A G 2: 4,534,574 K189E possibly damaging Het
Hpse T A 5: 100,691,333 Y383F probably damaging Het
Ip6k2 T C 9: 108,804,599 L197P probably damaging Het
Klf1 A C 8: 84,904,932 H375P probably damaging Het
Krtap6-5 T A 16: 89,047,846 probably benign Het
Lacc1 A T 14: 77,029,615 S403T probably damaging Het
Lama3 A G 18: 12,556,750 I2850V possibly damaging Het
Lats2 C T 14: 57,691,595 R941Q probably damaging Het
Lgals3bp A T 11: 118,393,464 Y430N probably benign Het
Lrig3 A T 10: 126,014,874 H1103L probably benign Het
Lrrc40 G A 3: 158,036,728 M1I probably null Het
Maats1 G T 16: 38,332,819 probably benign Het
Magee2 A T X: 104,856,793 V84D possibly damaging Het
Msantd2 G A 9: 37,523,306 V281I possibly damaging Het
Mycbpap A G 11: 94,503,250 V340A probably damaging Het
Myh6 A T 14: 54,944,318 M1842K probably benign Het
Mylk4 T C 13: 32,722,147 D145G possibly damaging Het
Nfkbid C T 7: 30,425,264 Q160* probably null Het
Olfr1133 T A 2: 87,645,286 Y279F probably damaging Het
Olfr1389 A T 11: 49,431,032 K185N probably damaging Het
Olfr1497 T G 19: 13,795,329 Q94P possibly damaging Het
Olfr251 A T 9: 38,378,246 T122S probably damaging Het
Olfr745 T A 14: 50,642,518 probably null Het
Olfr859 C T 9: 19,809,047 S243F probably damaging Het
Pex14 T C 4: 148,966,286 Q174R probably benign Het
Pogz T C 3: 94,879,010 S970P probably damaging Het
Rabggta A G 14: 55,718,495 V165A possibly damaging Het
Rdh10 G A 1: 16,106,214 W66* probably null Het
Ripor2 T A 13: 24,695,566 probably benign Het
Slc35g1 T A 19: 38,403,230 M320K possibly damaging Het
Slc9a7 A G X: 20,202,724 Y197H probably damaging Het
Smn1 T C 13: 100,135,684 probably benign Het
Spam1 G A 6: 24,796,697 G216S probably damaging Het
Spata31 A T 13: 64,920,380 N114I probably damaging Het
Sptbn1 A T 11: 30,119,491 V1615D possibly damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Thoc2 T A X: 41,825,478 Q1005H possibly damaging Het
Thra G A 11: 98,761,916 R189Q probably damaging Het
Trappc11 A T 8: 47,530,650 probably null Het
Vps13d G T 4: 145,156,364 H886Q probably damaging Het
Zfp157 G A 5: 138,447,597 W71* probably null Het
Other mutations in Pdgfrb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00553:Pdgfrb APN 18 61068936 missense probably benign 0.20
IGL01396:Pdgfrb APN 18 61072664 missense probably damaging 1.00
IGL02435:Pdgfrb APN 18 61064926 critical splice donor site probably null
IGL03397:Pdgfrb APN 18 61079681 missense probably benign 0.28
R0021:Pdgfrb UTSW 18 61064926 critical splice donor site probably benign
R0021:Pdgfrb UTSW 18 61064926 critical splice donor site probably benign
R0087:Pdgfrb UTSW 18 61061513 missense probably damaging 1.00
R0119:Pdgfrb UTSW 18 61068852 missense probably benign 0.06
R0299:Pdgfrb UTSW 18 61068852 missense probably benign 0.06
R0532:Pdgfrb UTSW 18 61083265 missense probably damaging 1.00
R0570:Pdgfrb UTSW 18 61077703 missense probably benign 0.00
R0629:Pdgfrb UTSW 18 61078648 critical splice donor site probably null
R0650:Pdgfrb UTSW 18 61079708 missense probably benign 0.00
R0853:Pdgfrb UTSW 18 61080327 missense probably damaging 1.00
R1165:Pdgfrb UTSW 18 61064002 missense probably benign 0.01
R1342:Pdgfrb UTSW 18 61065880 nonsense probably null
R1740:Pdgfrb UTSW 18 61081833 missense possibly damaging 0.93
R1808:Pdgfrb UTSW 18 61068102 missense probably benign
R1864:Pdgfrb UTSW 18 61071717 missense probably benign 0.00
R1960:Pdgfrb UTSW 18 61065783 missense probably benign 0.05
R1961:Pdgfrb UTSW 18 61061505 missense possibly damaging 0.49
R1970:Pdgfrb UTSW 18 61066494 splice site probably benign
R2011:Pdgfrb UTSW 18 61061494 missense probably benign 0.01
R2012:Pdgfrb UTSW 18 61061494 missense probably benign 0.01
R2018:Pdgfrb UTSW 18 61083334 missense possibly damaging 0.84
R2153:Pdgfrb UTSW 18 61072756 missense probably damaging 1.00
R2497:Pdgfrb UTSW 18 61078628 missense possibly damaging 0.58
R2846:Pdgfrb UTSW 18 61064016 missense probably benign 0.00
R3776:Pdgfrb UTSW 18 61081920 missense probably benign 0.00
R3779:Pdgfrb UTSW 18 61072666 missense probably damaging 1.00
R3816:Pdgfrb UTSW 18 61078945 missense probably damaging 1.00
R3978:Pdgfrb UTSW 18 61073685 missense probably damaging 1.00
R4259:Pdgfrb UTSW 18 61077631 missense probably benign 0.00
R4261:Pdgfrb UTSW 18 61077631 missense probably benign 0.00
R4327:Pdgfrb UTSW 18 61071720 missense possibly damaging 0.83
R4329:Pdgfrb UTSW 18 61071720 missense possibly damaging 0.83
R4598:Pdgfrb UTSW 18 61068757 missense probably benign 0.03
R4668:Pdgfrb UTSW 18 61064113 missense probably damaging 1.00
R4761:Pdgfrb UTSW 18 61079700 missense probably damaging 1.00
R4787:Pdgfrb UTSW 18 61079687 missense probably damaging 1.00
R4828:Pdgfrb UTSW 18 61073243 missense probably damaging 0.98
R5030:Pdgfrb UTSW 18 61065135 missense probably benign 0.13
R5033:Pdgfrb UTSW 18 61077668 missense probably damaging 1.00
R5447:Pdgfrb UTSW 18 61068108 missense probably damaging 1.00
R6224:Pdgfrb UTSW 18 61081939 nonsense probably null
R6807:Pdgfrb UTSW 18 61078649 critical splice donor site probably null
R6858:Pdgfrb UTSW 18 61065147 missense probably benign 0.01
R7017:Pdgfrb UTSW 18 61081004 missense probably benign 0.00
R7089:Pdgfrb UTSW 18 61073243 missense probably damaging 1.00
R7174:Pdgfrb UTSW 18 61066515 missense probably benign
R7374:Pdgfrb UTSW 18 61071708 missense possibly damaging 0.64
R7496:Pdgfrb UTSW 18 61078932 missense possibly damaging 0.71
R7565:Pdgfrb UTSW 18 61083264 missense probably damaging 1.00
R7615:Pdgfrb UTSW 18 61064046 missense probably benign 0.00
R7691:Pdgfrb UTSW 18 61061268 missense probably benign 0.05
X0060:Pdgfrb UTSW 18 61081976 missense probably damaging 1.00
Posted On2015-04-16