Incidental Mutation 'R4984:Pdcd5'
ID 446641
Institutional Source Beutler Lab
Gene Symbol Pdcd5
Ensembl Gene ENSMUSG00000030417
Gene Name programmed cell death 5
Synonyms 2200003D22Rik, Tfar19
MMRRC Submission 042578-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.960) question?
Stock # R4984 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 35341410-35346907 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 35342110 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 166 (V166G)
Ref Sequence ENSEMBL: ENSMUSP00000113013 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040844] [ENSMUST00000118501] [ENSMUST00000120714] [ENSMUST00000190503]
AlphaFold P56812
Predicted Effect probably benign
Transcript: ENSMUST00000040844
SMART Domains Protein: ENSMUSP00000041751
Gene: ENSMUSG00000034867

DomainStartEndE-ValueType
Blast:ANK 8 37 2e-8 BLAST
VPS9 264 380 1.92e-7 SMART
Blast:ANK 393 418 8e-9 BLAST
low complexity region 419 430 N/A INTRINSIC
ANK 462 491 8.65e-5 SMART
ANK 495 524 1.8e-2 SMART
ANK 528 558 2.45e-4 SMART
ANK 564 593 6.46e-4 SMART
low complexity region 638 658 N/A INTRINSIC
ANK 742 774 8.39e-3 SMART
ANK 775 804 5.93e-3 SMART
ANK 808 837 4.46e-7 SMART
ANK 841 870 2.81e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000118501
AA Change: V87G

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113761
Gene: ENSMUSG00000030417
AA Change: V87G

DomainStartEndE-ValueType
Pfam:dsDNA_bind 9 113 9.6e-38 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000120714
AA Change: V166G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113013
Gene: ENSMUSG00000030417
AA Change: V166G

DomainStartEndE-ValueType
low complexity region 9 26 N/A INTRINSIC
low complexity region 29 39 N/A INTRINSIC
low complexity region 56 64 N/A INTRINSIC
Pfam:dsDNA_bind 91 192 1.9e-34 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126734
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127213
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130306
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130340
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151336
Predicted Effect probably benign
Transcript: ENSMUST00000190503
SMART Domains Protein: ENSMUSP00000140259
Gene: ENSMUSG00000034867

DomainStartEndE-ValueType
Blast:ANK 8 37 2e-8 BLAST
VPS9 264 380 1.92e-7 SMART
Blast:ANK 393 418 7e-9 BLAST
low complexity region 419 430 N/A INTRINSIC
ANK 462 491 8.65e-5 SMART
ANK 495 524 1.8e-2 SMART
ANK 528 558 2.45e-4 SMART
ANK 564 593 6.46e-4 SMART
low complexity region 638 658 N/A INTRINSIC
ANK 687 719 8.39e-3 SMART
ANK 720 749 5.93e-3 SMART
ANK 753 782 4.46e-7 SMART
ANK 786 815 2.81e-4 SMART
Meta Mutation Damage Score 0.8444 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.4%
Validation Efficiency 98% (41/42)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra2a T C 19: 54,035,070 (GRCm39) I142T probably damaging Het
Cd109 T C 9: 78,541,959 (GRCm39) probably null Het
Cdc42bpg T A 19: 6,366,253 (GRCm39) I812N possibly damaging Het
Cftr A G 6: 18,235,198 (GRCm39) E479G possibly damaging Het
Cimap3 T A 3: 105,908,810 (GRCm39) probably benign Het
Cpb1 GTTT GTT 3: 20,324,516 (GRCm39) probably null Het
Crocc T C 4: 140,761,763 (GRCm39) E873G probably damaging Het
Dnah3 C T 7: 119,528,002 (GRCm39) V3827I probably benign Het
Dync1h1 C A 12: 110,624,560 (GRCm39) T3700N probably damaging Het
E230001N04Rik T C 17: 28,742,780 (GRCm39) noncoding transcript Het
Gpr89 T A 3: 96,812,512 (GRCm39) M10L probably benign Het
Kbtbd7 T C 14: 79,664,602 (GRCm39) Y145H probably damaging Het
Kcnh8 T A 17: 53,184,995 (GRCm39) Y426N probably damaging Het
Mipep A G 14: 61,025,631 (GRCm39) D129G possibly damaging Het
Muc15 C T 2: 110,561,918 (GRCm39) P118L probably damaging Het
Mug1 T C 6: 121,815,576 (GRCm39) probably benign Het
Nubp1 T A 16: 10,239,108 (GRCm39) D208E probably damaging Het
Or4a47 A T 2: 89,666,157 (GRCm39) V44D probably damaging Het
Or4k40 A T 2: 111,251,192 (GRCm39) Y35N probably damaging Het
Or4p4 A G 2: 88,242,921 (GRCm39) L27P probably damaging Het
Or52h9 T G 7: 104,202,228 (GRCm39) I34S probably benign Het
Or8g2 A G 9: 39,821,906 (GRCm39) D269G probably benign Het
Pde4d T C 13: 109,876,998 (GRCm39) L173P probably damaging Het
Phldb2 T C 16: 45,645,996 (GRCm39) Y195C probably damaging Het
Pou4f1 T C 14: 104,703,619 (GRCm39) E271G unknown Het
Ppl T C 16: 4,905,505 (GRCm39) I1597V probably benign Het
Pramel17 G C 4: 101,692,796 (GRCm39) N401K possibly damaging Het
Sorl1 C A 9: 41,902,638 (GRCm39) D1640Y probably damaging Het
Taf4b T C 18: 14,968,873 (GRCm39) L670P probably damaging Het
Tox3 TCTGCTGCTGCTGCTGCTG TCTGCTGCTGCTGCTG 8: 90,975,270 (GRCm39) probably benign Het
Ttc39b A T 4: 83,160,446 (GRCm39) I377K probably benign Het
Ttll3 A G 6: 113,389,901 (GRCm39) D762G probably benign Het
Ubp1 T A 9: 113,788,460 (GRCm39) I279K probably damaging Het
Vmn2r93 T A 17: 18,533,389 (GRCm39) probably null Het
Wdfy3 C T 5: 102,090,985 (GRCm39) D532N probably benign Het
Zfp644 A T 5: 106,784,783 (GRCm39) L588Q possibly damaging Het
Other mutations in Pdcd5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02447:Pdcd5 APN 7 35,342,110 (GRCm39) missense possibly damaging 0.95
IGL02954:Pdcd5 APN 7 35,343,089 (GRCm39) missense probably damaging 1.00
R0825:Pdcd5 UTSW 7 35,346,338 (GRCm39) missense possibly damaging 0.75
R4426:Pdcd5 UTSW 7 35,345,605 (GRCm39) missense possibly damaging 0.49
R4614:Pdcd5 UTSW 7 35,346,472 (GRCm39) intron probably benign
R4860:Pdcd5 UTSW 7 35,343,135 (GRCm39) missense possibly damaging 0.50
R4860:Pdcd5 UTSW 7 35,343,135 (GRCm39) missense possibly damaging 0.50
R5249:Pdcd5 UTSW 7 35,346,421 (GRCm39) intron probably benign
R5682:Pdcd5 UTSW 7 35,346,613 (GRCm39) start gained probably benign
R6384:Pdcd5 UTSW 7 35,346,334 (GRCm39) missense possibly damaging 0.60
R6787:Pdcd5 UTSW 7 35,342,063 (GRCm39) missense probably damaging 0.99
R8896:Pdcd5 UTSW 7 35,346,795 (GRCm39) start codon destroyed probably null 0.84
R9469:Pdcd5 UTSW 7 35,343,827 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCTCATCGCAGAATTAAGATGTC -3'
(R):5'- CAGAGCTACAAAGAACTGGGTC -3'

Sequencing Primer
(F):5'- GTCTAAAAGCTCACAGGCGCTTG -3'
(R):5'- GCAGAGGTAGCACATCTATGC -3'
Posted On 2016-12-05