Incidental Mutation 'R8472:Pdp2'
ID 657076
Institutional Source Beutler Lab
Gene Symbol Pdp2
Ensembl Gene ENSMUSG00000048371
Gene Name pyruvate dehydrogenase phosphatase catalytic subunit 2
Synonyms LOC382051, 4833426J09Rik
MMRRC Submission 067916-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.130) question?
Stock # R8472 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 105318104-105325658 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 105320913 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 254 (E254G)
Ref Sequence ENSEMBL: ENSMUSP00000092821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059588]
AlphaFold Q504M2
Predicted Effect probably benign
Transcript: ENSMUST00000059588
AA Change: E254G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000092821
Gene: ENSMUSG00000048371
AA Change: E254G

DomainStartEndE-ValueType
PP2Cc 96 518 1.1e-92 SMART
PP2C_SIG 121 520 2.56e-1 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (61/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a mitochondrial protein that functions as a phosphatase and is involved in the enzymatic resetting of the pyruvate dehydrogenase complex. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Aug 2016]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik T A 7: 12,246,568 (GRCm39) H21Q possibly damaging Het
Ccdc7a A G 8: 129,754,138 (GRCm39) S152P probably damaging Het
Ccnj T C 19: 40,833,608 (GRCm39) S222P probably damaging Het
Cdcp2 C T 4: 106,959,981 (GRCm39) A132V probably damaging Het
Cnksr3 G T 10: 7,084,532 (GRCm39) P71Q probably damaging Het
Col9a3 C T 2: 180,247,057 (GRCm39) P185L probably damaging Het
Cpm T C 10: 117,515,883 (GRCm39) V319A probably damaging Het
Ctxn2 A G 2: 124,989,528 (GRCm39) I52V possibly damaging Het
Cyp2c66 A T 19: 39,165,021 (GRCm39) H334L probably benign Het
Dab1 A G 4: 104,336,439 (GRCm39) K12E possibly damaging Het
Efcab3 A T 11: 104,709,463 (GRCm39) D1815V probably benign Het
Emsy T C 7: 98,304,037 (GRCm39) probably benign Het
Etv4 G T 11: 101,674,827 (GRCm39) D56E probably damaging Het
Exoc3l2 C T 7: 19,215,190 (GRCm39) R484* probably null Het
Extl1 A G 4: 134,098,603 (GRCm39) C143R probably benign Het
Fat3 T C 9: 16,286,563 (GRCm39) I987V possibly damaging Het
Fbn1 A C 2: 125,151,722 (GRCm39) C2511G probably damaging Het
Fer T A 17: 64,280,144 (GRCm39) S72T probably benign Het
Gdf2 A G 14: 33,666,797 (GRCm39) D173G probably damaging Het
Grhl3 T C 4: 135,284,176 (GRCm39) E222G probably benign Het
Gria1 A T 11: 57,218,410 (GRCm39) M819L probably benign Het
Gsap A T 5: 21,427,432 (GRCm39) R187* probably null Het
Heatr6 A G 11: 83,656,679 (GRCm39) N314D probably benign Het
Hspd1 T C 1: 55,117,505 (GRCm39) D555G probably benign Het
Ighv3-4 T C 12: 114,217,649 (GRCm39) Y8C probably benign Het
Lcmt2 A G 2: 120,970,729 (GRCm39) V118A probably damaging Het
Lmf2 T C 15: 89,239,005 (GRCm39) E37G possibly damaging Het
Macf1 A G 4: 123,346,795 (GRCm39) L1161P probably damaging Het
Mbip T A 12: 56,377,054 (GRCm39) probably null Het
Mgam A T 6: 40,671,460 (GRCm39) probably null Het
Mmrn1 G A 6: 60,965,380 (GRCm39) S1136N probably damaging Het
Mms22l T C 4: 24,502,943 (GRCm39) V73A possibly damaging Het
Mtbp C T 15: 55,449,748 (GRCm39) L24F probably damaging Het
Ncr1 T A 7: 4,341,120 (GRCm39) I37N probably benign Het
Nkx3-1 A G 14: 69,429,507 (GRCm39) N175S probably damaging Het
Nlrp4f A G 13: 65,342,145 (GRCm39) I500T possibly damaging Het
Or10a3 T A 7: 108,479,973 (GRCm39) Q280L possibly damaging Het
Or1e1f C T 11: 73,856,223 (GRCm39) S263L possibly damaging Het
Or6c33 A G 10: 129,853,445 (GRCm39) T72A probably damaging Het
Pcdha2 A G 18: 37,074,325 (GRCm39) D652G probably damaging Het
Pde6a T A 18: 61,354,018 (GRCm39) N114K probably damaging Het
Pip5kl1 T C 2: 32,470,018 (GRCm39) V241A probably benign Het
Prkdc T A 16: 15,469,400 (GRCm39) D168E probably damaging Het
Psg27 A T 7: 18,296,015 (GRCm39) H143Q probably benign Het
Serpina16 T A 12: 103,638,796 (GRCm39) I264F probably benign Het
Slc25a41 G A 17: 57,348,582 (GRCm39) H4Y probably benign Het
Slco1a8 T G 6: 141,949,115 (GRCm39) H87P probably damaging Het
Smc3 T G 19: 53,617,142 (GRCm39) H518Q probably benign Het
Snrpb G T 2: 130,015,042 (GRCm39) T158K probably damaging Het
Sobp A G 10: 42,898,392 (GRCm39) F398L probably damaging Het
Spidr T A 16: 15,958,591 (GRCm39) Q57L probably benign Het
Srd5a3 T G 5: 76,297,648 (GRCm39) V26G possibly damaging Het
Stx17 A G 4: 48,166,972 (GRCm39) T131A probably benign Het
Susd1 A G 4: 59,332,985 (GRCm39) L553P possibly damaging Het
Tbc1d30 C A 10: 121,187,009 (GRCm39) G59C probably benign Het
Tekt1 T C 11: 72,242,850 (GRCm39) D219G possibly damaging Het
Trav9d-1 A T 14: 53,030,163 (GRCm39) D89V possibly damaging Het
Trim34b T C 7: 103,980,545 (GRCm39) I211T probably benign Het
Vmn1r25 A T 6: 57,955,531 (GRCm39) L253M possibly damaging Het
Vmn1r56 C T 7: 5,198,904 (GRCm39) V238M probably damaging Het
Wipf3 A G 6: 54,466,070 (GRCm39) I443V probably benign Het
Other mutations in Pdp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00487:Pdp2 APN 8 105,320,829 (GRCm39) missense probably benign
IGL01771:Pdp2 APN 8 105,320,754 (GRCm39) missense probably benign 0.06
IGL01946:Pdp2 APN 8 105,320,824 (GRCm39) missense probably benign 0.00
IGL02313:Pdp2 APN 8 105,321,531 (GRCm39) missense probably benign 0.44
IGL02588:Pdp2 APN 8 105,321,536 (GRCm39) missense possibly damaging 0.73
IGL02981:Pdp2 APN 8 105,320,267 (GRCm39) missense probably benign 0.00
R0456:Pdp2 UTSW 8 105,320,421 (GRCm39) missense probably damaging 1.00
R1260:Pdp2 UTSW 8 105,321,249 (GRCm39) missense probably damaging 0.96
R1974:Pdp2 UTSW 8 105,320,538 (GRCm39) missense probably benign
R3008:Pdp2 UTSW 8 105,320,898 (GRCm39) missense probably benign 0.08
R4580:Pdp2 UTSW 8 105,321,576 (GRCm39) missense probably damaging 1.00
R4655:Pdp2 UTSW 8 105,321,168 (GRCm39) missense probably benign 0.03
R5677:Pdp2 UTSW 8 105,321,320 (GRCm39) missense probably damaging 1.00
R6813:Pdp2 UTSW 8 105,321,131 (GRCm39) missense probably damaging 1.00
R8176:Pdp2 UTSW 8 105,321,687 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AACGGAAAACATGAAGCCTTTGC -3'
(R):5'- CGTTGTGGTCACAGGTAAGAGG -3'

Sequencing Primer
(F):5'- ATCCTGCGTTGGCTCAAG -3'
(R):5'- GTAAACATGACCAGGCACCGTTTTC -3'
Posted On 2021-01-18