Incidental Mutation 'R4298:Pdcd4'
ID 323450
Institutional Source Beutler Lab
Gene Symbol Pdcd4
Ensembl Gene ENSMUSG00000024975
Gene Name programmed cell death 4
Synonyms MA-3, TIS, D19Ucla1
MMRRC Submission 041086-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.232) question?
Stock # R4298 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 53880662-53918291 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 53908092 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 201 (P201Q)
Ref Sequence ENSEMBL: ENSMUSP00000133135 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025931] [ENSMUST00000074371] [ENSMUST00000165617]
AlphaFold Q61823
Predicted Effect probably damaging
Transcript: ENSMUST00000025931
AA Change: P201Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025931
Gene: ENSMUSG00000024975
AA Change: P201Q

DomainStartEndE-ValueType
low complexity region 66 82 N/A INTRINSIC
low complexity region 96 122 N/A INTRINSIC
MA3 164 275 3.68e-41 SMART
MA3 327 440 5.01e-43 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000074371
AA Change: P201Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000073975
Gene: ENSMUSG00000024975
AA Change: P201Q

DomainStartEndE-ValueType
low complexity region 66 82 N/A INTRINSIC
low complexity region 96 122 N/A INTRINSIC
MA3 164 275 3.68e-41 SMART
MA3 327 440 5.01e-43 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000165617
AA Change: P201Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133135
Gene: ENSMUSG00000024975
AA Change: P201Q

DomainStartEndE-ValueType
low complexity region 66 82 N/A INTRINSIC
low complexity region 96 122 N/A INTRINSIC
MA3 164 275 3.68e-41 SMART
MA3 327 440 5.01e-43 SMART
Meta Mutation Damage Score 0.2937 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (54/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a tumor suppressor and encodes a protein that binds to the eukaryotic translation initiation factor 4A1 and inhibits its function by preventing RNA binding. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a null allele have a higher prevalence of B cell derived lymphomas, multi-organ cysts and decreased susceptibility to experimentally induced autoimmune encephalomyelitis and type 1 diabetes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 T C 8: 87,258,154 (GRCm39) probably null Het
Ccser2 T A 14: 36,612,337 (GRCm39) Q158L possibly damaging Het
Cct7 T A 6: 85,445,155 (GRCm39) C469S probably damaging Het
Chmp7 A T 14: 69,956,650 (GRCm39) probably null Het
Clcn4 C T 7: 7,299,737 (GRCm39) D31N possibly damaging Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Ctdp1 A T 18: 80,493,172 (GRCm39) V441E probably benign Het
Cyp4a10 T C 4: 115,389,889 (GRCm39) L498P probably damaging Het
Dsc3 A T 18: 20,113,811 (GRCm39) N370K possibly damaging Het
Dusp12 G A 1: 170,708,198 (GRCm39) T173M probably benign Het
Ebf3 C T 7: 136,826,958 (GRCm39) R318Q possibly damaging Het
Epcam T C 17: 87,947,962 (GRCm39) probably null Het
Erich6 G T 3: 58,531,712 (GRCm39) A428D probably benign Het
Ext1 A T 15: 53,208,521 (GRCm39) I80N probably benign Het
Extl1 T C 4: 134,084,969 (GRCm39) E667G probably damaging Het
F2 T G 2: 91,459,665 (GRCm39) probably null Het
Fbxw16 T C 9: 109,275,625 (GRCm39) I135V probably benign Het
Glipr1l1 A T 10: 111,898,252 (GRCm39) D119V probably benign Het
Gprc5b G A 7: 118,583,437 (GRCm39) A144V possibly damaging Het
Lmbrd2 G A 15: 9,165,882 (GRCm39) R252H possibly damaging Het
Lyst A G 13: 13,809,472 (GRCm39) T381A probably damaging Het
Mcpt4 A T 14: 56,298,444 (GRCm39) V97D possibly damaging Het
Nefh A G 11: 4,890,066 (GRCm39) I851T probably benign Het
Nf1 A T 11: 79,275,070 (GRCm39) I44F probably damaging Het
Nyap2 A T 1: 81,218,811 (GRCm39) I278F probably damaging Het
Or4c52 A T 2: 89,845,993 (GRCm39) T240S probably benign Het
Or4f7d-ps1 G T 2: 111,674,789 (GRCm39) noncoding transcript Het
Pramel16 A T 4: 143,675,713 (GRCm39) L371* probably null Het
Prdm11 T C 2: 92,823,728 (GRCm39) T179A probably benign Het
Qrfpr T A 3: 36,243,703 (GRCm39) I133F probably damaging Het
Rack1 T C 11: 48,692,453 (GRCm39) probably benign Het
Reln A C 5: 22,125,485 (GRCm39) C2733G probably damaging Het
Rrs1 C T 1: 9,616,448 (GRCm39) R234C possibly damaging Het
Sag G C 1: 87,772,737 (GRCm39) D402H probably benign Het
Sbk3 T A 7: 4,972,979 (GRCm39) T64S probably benign Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Sh3gl1 C T 17: 56,326,173 (GRCm39) G111D probably damaging Het
Spata20 G A 11: 94,373,914 (GRCm39) R379W probably damaging Het
St3gal2 T C 8: 111,688,991 (GRCm39) M177T probably benign Het
Stk39 C T 2: 68,221,284 (GRCm39) G213D probably damaging Het
Szt2 A G 4: 118,222,603 (GRCm39) probably benign Het
Taf1d T C 9: 15,219,939 (GRCm39) S63P probably damaging Het
Tnfrsf13b C G 11: 61,031,643 (GRCm39) probably null Het
Ttn G T 2: 76,554,394 (GRCm39) A30807D probably damaging Het
Unc119 A G 11: 78,238,948 (GRCm39) N158S probably damaging Het
Vmn2r116 T A 17: 23,620,801 (GRCm39) I845N possibly damaging Het
Vmn2r12 C A 5: 109,239,830 (GRCm39) M244I probably benign Het
Zdhhc4 A G 5: 143,309,997 (GRCm39) V87A probably damaging Het
Zwilch A G 9: 64,062,444 (GRCm39) probably null Het
Other mutations in Pdcd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01563:Pdcd4 APN 19 53,917,552 (GRCm39) missense probably benign
IGL02608:Pdcd4 APN 19 53,915,638 (GRCm39) splice site probably null
seventh UTSW 19 53,910,564 (GRCm39) critical splice donor site probably null
Uccidere UTSW 19 53,899,379 (GRCm39) missense probably damaging 1.00
R0893:Pdcd4 UTSW 19 53,917,525 (GRCm39) missense probably damaging 1.00
R1437:Pdcd4 UTSW 19 53,897,674 (GRCm39) missense probably damaging 0.99
R1836:Pdcd4 UTSW 19 53,914,650 (GRCm39) missense probably damaging 1.00
R6365:Pdcd4 UTSW 19 53,910,564 (GRCm39) critical splice donor site probably null
R6436:Pdcd4 UTSW 19 53,915,362 (GRCm39) splice site probably null
R7523:Pdcd4 UTSW 19 53,899,379 (GRCm39) missense probably damaging 1.00
R8244:Pdcd4 UTSW 19 53,895,965 (GRCm39) missense probably benign
R8739:Pdcd4 UTSW 19 53,899,405 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GGACTGTTGGCAATGTTCTTCC -3'
(R):5'- AAGACACAAACCTGCGGTG -3'

Sequencing Primer
(F):5'- GCAGGTAGAGCTTATATCACTGC -3'
(R):5'- TGCCCTAGGAGTGTCCAAG -3'
Posted On 2015-06-20