Incidental Mutation 'IGL00863:Pdgfrl'
ID12965
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdgfrl
Ensembl Gene ENSMUSG00000031595
Gene Nameplatelet-derived growth factor receptor-like
Synonyms1110039P19Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.137) question?
Stock #IGL00863
Quality Score
Status
Chromosome8
Chromosomal Location40926212-40990785 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 40985534 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 169 (E169G)
Ref Sequence ENSEMBL: ENSMUSP00000034004 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034004]
Predicted Effect probably damaging
Transcript: ENSMUST00000034004
AA Change: E169G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034004
Gene: ENSMUSG00000031595
AA Change: E169G

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 39 53 N/A INTRINSIC
IG_like 81 168 5.41e0 SMART
SCOP:d1fltx_ 171 260 4e-23 SMART
IG 278 375 2.75e-1 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with significant sequence similarity to the ligand binding domain of platelet-derived growth factor receptor beta. Mutations in this gene, or deletion of a chromosomal segment containing this gene, are associated with sporadic hepatocellular carcinomas, colorectal cancers, and non-small cell lung cancers. This suggests this gene product may function as a tumor suppressor. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011I03Rik A T 18: 57,594,086 E136V probably damaging Het
Bsn A G 9: 108,115,322 I1077T probably damaging Het
Car8 A G 4: 8,183,251 probably null Het
Ccny A T 18: 9,345,444 D143E probably benign Het
Cdh19 A G 1: 110,949,144 V155A probably damaging Het
Cript T A 17: 87,027,723 I14N probably damaging Het
Crygd C T 1: 65,062,091 R115Q probably benign Het
Eef1b2 G A 1: 63,178,506 G91R probably damaging Het
Fam49a A T 12: 12,359,234 I72F probably benign Het
Fbln5 A G 12: 101,809,916 V60A probably damaging Het
Fbn1 T A 2: 125,403,219 E249D possibly damaging Het
G6pc G T 11: 101,370,723 R83L probably damaging Het
Grik2 A G 10: 49,355,928 V502A possibly damaging Het
Heatr1 T C 13: 12,435,128 V2001A probably benign Het
Il4i1 T A 7: 44,838,046 Y148* probably null Het
Jmjd4 T C 11: 59,450,743 S113P probably benign Het
Mpp5 A G 12: 78,809,821 D146G probably damaging Het
Nceh1 C T 3: 27,241,313 P241L probably damaging Het
Pcdh10 T A 3: 45,380,302 D350E probably damaging Het
Ppm1l T A 3: 69,317,950 D128E probably damaging Het
Rasa1 A G 13: 85,288,429 V160A probably benign Het
Serf2 T C 2: 121,457,703 probably null Het
Slitrk1 T A 14: 108,911,837 N481Y probably damaging Het
Tas2r139 T G 6: 42,141,121 S62R probably damaging Het
Tdpoz4 A T 3: 93,797,073 T226S probably benign Het
Tvp23b C A 11: 62,883,638 A36E probably damaging Het
Upp2 G A 2: 58,790,064 E301K probably benign Het
Other mutations in Pdgfrl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Pdgfrl APN 8 40985623 missense probably damaging 1.00
IGL02388:Pdgfrl APN 8 40977057 missense probably benign
IGL02811:Pdgfrl APN 8 40976968 missense probably damaging 0.99
IGL02973:Pdgfrl APN 8 40985594 missense probably damaging 1.00
R1711:Pdgfrl UTSW 8 40985794 missense probably benign 0.25
R3802:Pdgfrl UTSW 8 40985557 missense probably damaging 1.00
Posted On2012-12-06