Incidental Mutation 'R5868:Pdcd6'
ID 454294
Institutional Source Beutler Lab
Gene Symbol Pdcd6
Ensembl Gene ENSMUSG00000021576
Gene Name programmed cell death 6
Synonyms MA-3, PS2, alg-2, Alg2
MMRRC Submission 044076-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5868 (G1)
Quality Score 223
Status Validated
Chromosome 13
Chromosomal Location 74451628-74465699 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74452133 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 169 (D169G)
Ref Sequence ENSEMBL: ENSMUSP00000152458 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022060] [ENSMUST00000222759]
AlphaFold P12815
Predicted Effect probably benign
Transcript: ENSMUST00000022060
AA Change: D171G

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000022060
Gene: ENSMUSG00000021576
AA Change: D171G

DomainStartEndE-ValueType
low complexity region 8 21 N/A INTRINSIC
EFh 27 55 1.76e0 SMART
EFh 64 92 2.98e1 SMART
EFh 94 122 1.4e-5 SMART
EFh 130 158 8.33e1 SMART
EFh 160 190 6.2e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220861
Predicted Effect probably damaging
Transcript: ENSMUST00000222759
AA Change: D169G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222993
Meta Mutation Damage Score 0.3096 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.2%
  • 20x: 90.8%
Validation Efficiency 95% (58/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. Calcium binding is important for homodimerization and for conformational changes required for binding to other protein partners. This gene product participates in T cell receptor-, Fas-, and glucocorticoid-induced programmed cell death. In mice deficient for this gene product, however, apoptosis was not blocked suggesting this gene product is functionally redundant. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is also located on the short arm of chromosome 5. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a targeted null mutation are viable, fertile and do not exhibit any developmental defects or immune dysfunction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810408A11Rik C A 11: 69,788,401 (GRCm39) K394N possibly damaging Het
Adamts18 T A 8: 114,504,380 (GRCm39) Q80L possibly damaging Het
Apbb2 T A 5: 66,609,439 (GRCm39) K69N probably damaging Het
Ascc3 C T 10: 50,718,279 (GRCm39) R1991* probably null Het
BC035947 T A 1: 78,474,960 (GRCm39) N524I probably damaging Het
Bpifa1 A G 2: 153,985,796 (GRCm39) N37S unknown Het
Cfap91 T A 16: 38,152,604 (GRCm39) D202V probably damaging Het
Crnkl1 A T 2: 145,760,473 (GRCm39) D648E probably benign Het
Cul5 C A 9: 53,569,973 (GRCm39) G86V probably benign Het
Cyfip1 A C 7: 55,576,061 (GRCm39) D1077A probably damaging Het
Dennd4a T C 9: 64,804,011 (GRCm39) S1117P probably benign Het
Dnaaf8 T C 16: 4,791,932 (GRCm39) noncoding transcript Het
Elmo2 A T 2: 165,136,192 (GRCm39) M618K possibly damaging Het
Fggy A G 4: 95,585,225 (GRCm39) T35A probably damaging Het
Gad2 G A 2: 22,575,079 (GRCm39) probably null Het
Gtf3c2 A C 5: 31,325,425 (GRCm39) F455V possibly damaging Het
H4c16 C T 6: 136,781,292 (GRCm39) G29D probably damaging Het
Hacl1 C A 14: 31,341,873 (GRCm39) A311S probably damaging Het
Kat6b G A 14: 21,684,547 (GRCm39) D611N probably damaging Het
Kifap3 T C 1: 163,693,041 (GRCm39) I611T probably damaging Het
Lrba A G 3: 86,226,911 (GRCm39) Y683C probably damaging Het
Mfsd14a T C 3: 116,427,399 (GRCm39) N413S probably benign Het
Mtmr11 T A 3: 96,078,518 (GRCm39) D691E possibly damaging Het
Mzf1 A T 7: 12,787,116 (GRCm39) F64I probably benign Het
Neu2 G T 1: 87,524,478 (GRCm39) Q154H probably damaging Het
Nid1 T C 13: 13,663,742 (GRCm39) probably null Het
Nod1 C A 6: 54,916,312 (GRCm39) K128N probably damaging Het
Noxred1 T A 12: 87,270,976 (GRCm39) Q215L possibly damaging Het
Npat A G 9: 53,481,424 (GRCm39) E1044G probably damaging Het
Npr1 A G 3: 90,366,800 (GRCm39) probably benign Het
Pld3 G T 7: 27,237,093 (GRCm39) T262N probably benign Het
Plxna1 T C 6: 89,299,704 (GRCm39) probably benign Het
Prh1 A G 6: 132,549,174 (GRCm39) Q227R unknown Het
Prtg C A 9: 72,716,999 (GRCm39) Y113* probably null Het
Rbm27 T A 18: 42,433,450 (GRCm39) V242E possibly damaging Het
Ripor1 T C 8: 106,342,636 (GRCm39) L198P probably damaging Het
Rnpc3 T C 3: 113,410,360 (GRCm39) probably null Het
Serpinf2 T C 11: 75,324,065 (GRCm39) T321A probably benign Het
Sh3gl1 T C 17: 56,326,119 (GRCm39) D129G probably damaging Het
Slc12a2 C A 18: 58,077,068 (GRCm39) P1189Q probably damaging Het
Slc16a9 T C 10: 70,118,320 (GRCm39) M213T probably benign Het
Spata31f3 A T 4: 42,871,711 (GRCm39) D221E probably damaging Het
Svil G A 18: 5,056,854 (GRCm39) probably null Het
Synpo A G 18: 60,737,118 (GRCm39) L37P probably damaging Het
Tmprss9 A G 10: 80,718,580 (GRCm39) H87R probably benign Het
Tmtc1 A T 6: 148,139,353 (GRCm39) L885Q probably damaging Het
Ttc41 T C 10: 86,586,128 (GRCm39) S811P possibly damaging Het
Vmn2r23 T C 6: 123,689,901 (GRCm39) V259A probably benign Het
Wwox T A 8: 115,406,586 (GRCm39) H192Q probably benign Het
Other mutations in Pdcd6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02573:Pdcd6 APN 13 74,452,098 (GRCm39) missense probably damaging 1.00
IGL03029:Pdcd6 APN 13 74,457,899 (GRCm39) missense probably damaging 1.00
R0379:Pdcd6 UTSW 13 74,457,831 (GRCm39) missense possibly damaging 0.81
R0744:Pdcd6 UTSW 13 74,464,443 (GRCm39) splice site probably benign
R0833:Pdcd6 UTSW 13 74,464,443 (GRCm39) splice site probably benign
R1739:Pdcd6 UTSW 13 74,452,160 (GRCm39) missense probably damaging 1.00
R1779:Pdcd6 UTSW 13 74,453,700 (GRCm39) missense probably damaging 0.99
R1983:Pdcd6 UTSW 13 74,452,119 (GRCm39) missense probably benign 0.05
R4665:Pdcd6 UTSW 13 74,465,325 (GRCm39) start codon destroyed probably null 0.02
R6329:Pdcd6 UTSW 13 74,452,098 (GRCm39) missense probably damaging 1.00
R6848:Pdcd6 UTSW 13 74,457,959 (GRCm39) missense possibly damaging 0.56
R9497:Pdcd6 UTSW 13 74,453,695 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAACGATACAGCCAACGGG -3'
(R):5'- GGTTCTGACTAAAGGTGTTCAAG -3'

Sequencing Primer
(F):5'- GAAGGACGGCATCTCACTG -3'
(R):5'- GTGTTCAAGAGTACTCAACCCGTG -3'
Posted On 2017-02-10