Incidental Mutation 'R3802:Pdgfrl'
ID 274360
Institutional Source Beutler Lab
Gene Symbol Pdgfrl
Ensembl Gene ENSMUSG00000031595
Gene Name platelet-derived growth factor receptor-like
Synonyms 1110039P19Rik
MMRRC Submission 040761-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3802 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 41379270-41443819 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 41438594 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 177 (S177P)
Ref Sequence ENSEMBL: ENSMUSP00000034004 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034004]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000034004
AA Change: S177P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034004
Gene: ENSMUSG00000031595
AA Change: S177P

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
Meta Mutation Damage Score 0.3418 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 100% (47/47)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 A T 4: 144,430,074 (GRCm39) L305Q possibly damaging Het
Abcc2 C A 19: 43,810,065 (GRCm39) N874K probably benign Het
Axl A T 7: 25,487,902 (GRCm39) M1K probably null Het
Btaf1 A T 19: 36,963,948 (GRCm39) T840S probably benign Het
Btaf1 A T 19: 36,966,373 (GRCm39) H1047L probably benign Het
Capn13 G A 17: 73,646,396 (GRCm39) P339L probably benign Het
Ccdc39 A T 3: 33,874,044 (GRCm39) M596K probably damaging Het
Cfap20dc G T 14: 8,510,931 (GRCm38) D494E probably benign Het
Cfap58 G T 19: 47,941,498 (GRCm39) D289Y possibly damaging Het
Cnn2 A G 10: 79,829,329 (GRCm39) D153G probably benign Het
Cstdc2 T C 2: 148,692,616 (GRCm39) H62R probably benign Het
Cubn T C 2: 13,365,164 (GRCm39) I1625V probably benign Het
Gprc5b C T 7: 118,582,943 (GRCm39) D309N possibly damaging Het
Grm8 T G 6: 28,125,635 (GRCm39) N164H possibly damaging Het
Gstm3 G A 3: 107,871,551 (GRCm39) T210I probably benign Het
Hhipl1 A G 12: 108,278,566 (GRCm39) E298G probably benign Het
Hivep2 A G 10: 14,024,705 (GRCm39) D2173G possibly damaging Het
Hsd17b8 A T 17: 34,245,441 (GRCm39) V231E probably damaging Het
Jarid2 T A 13: 45,056,307 (GRCm39) N365K probably benign Het
Kank4 A G 4: 98,668,370 (GRCm39) S26P probably damaging Het
Kpnb1 A T 11: 97,056,955 (GRCm39) V638E possibly damaging Het
Lipo3 C T 19: 33,762,257 (GRCm39) C80Y probably damaging Het
Mga T A 2: 119,777,820 (GRCm39) N1788K probably damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Mtmr10 A G 7: 63,970,376 (GRCm39) Y373C probably benign Het
Ncoa6 C T 2: 155,247,484 (GRCm39) G1940D probably benign Het
Nelfe T A 17: 35,072,877 (GRCm39) F166L possibly damaging Het
Nfatc3 A G 8: 106,806,277 (GRCm39) Y374C probably damaging Het
Nhlrc3 A G 3: 53,366,052 (GRCm39) V147A possibly damaging Het
Or51f1d A G 7: 102,701,372 (GRCm39) Y289C probably benign Het
Or8g33 G A 9: 39,337,582 (GRCm39) P262S probably damaging Het
Pak3 G A X: 142,492,727 (GRCm39) V87I probably damaging Het
Papolg A T 11: 23,826,449 (GRCm39) I235N probably damaging Het
Phf8 T C X: 150,355,572 (GRCm39) S512P possibly damaging Het
Plaa T C 4: 94,458,125 (GRCm39) D615G probably damaging Het
Prpf4b T C 13: 35,067,665 (GRCm39) probably benign Het
Sgk1 T C 10: 21,873,311 (GRCm39) V259A probably damaging Het
Skint4 G T 4: 111,975,378 (GRCm39) V113L probably damaging Het
Smco1 A G 16: 32,092,716 (GRCm39) Y129C probably benign Het
Tas2r106 C A 6: 131,655,329 (GRCm39) S174I probably benign Het
Tektl1 A C 10: 78,584,314 (GRCm39) F367C probably damaging Het
Tsn A T 1: 118,233,026 (GRCm39) F93I probably damaging Het
Vav2 T C 2: 27,157,235 (GRCm39) probably benign Het
Vmn2r63 A T 7: 42,552,829 (GRCm39) M809K probably damaging Het
Zfp260 G A 7: 29,804,504 (GRCm39) E135K probably benign Het
Zfp808 T A 13: 62,319,897 (GRCm39) H375Q probably damaging Het
Zkscan2 A T 7: 123,094,365 (GRCm39) probably benign Het
Other mutations in Pdgfrl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Pdgfrl APN 8 41,438,660 (GRCm39) missense probably damaging 1.00
IGL00863:Pdgfrl APN 8 41,438,571 (GRCm39) missense probably damaging 1.00
IGL02388:Pdgfrl APN 8 41,430,094 (GRCm39) missense probably benign
IGL02811:Pdgfrl APN 8 41,430,005 (GRCm39) missense probably damaging 0.99
IGL02973:Pdgfrl APN 8 41,438,631 (GRCm39) missense probably damaging 1.00
R1711:Pdgfrl UTSW 8 41,438,831 (GRCm39) missense probably benign 0.25
R9182:Pdgfrl UTSW 8 41,429,996 (GRCm39) missense probably damaging 0.99
R9297:Pdgfrl UTSW 8 41,391,268 (GRCm39) missense probably damaging 1.00
R9757:Pdgfrl UTSW 8 41,379,454 (GRCm39) missense possibly damaging 0.63
Predicted Primers PCR Primer
(F):5'- TCCAATAGCCAAGCCTTTAATTCAC -3'
(R):5'- GGCTGAAGGTACACGAAACC -3'

Sequencing Primer
(F):5'- TTAATTCACGAACCTCTAGGGGC -3'
(R):5'- GGTACACGAAACCTCTCTTCATG -3'
Posted On 2015-04-02