Incidental Mutation 'R8483:Pdp1'
ID 657610
Institutional Source Beutler Lab
Gene Symbol Pdp1
Ensembl Gene ENSMUSG00000049225
Gene Name pyruvate dehydrogenase phosphatase catalytic subunit 1
Synonyms LOC381511, Ppm2c
MMRRC Submission 067927-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8483 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 11958183-11966450 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 11961982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 110 (R110G)
Ref Sequence ENSEMBL: ENSMUSP00000103937 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056050] [ENSMUST00000095144] [ENSMUST00000108297] [ENSMUST00000108299] [ENSMUST00000108301] [ENSMUST00000108302]
AlphaFold Q3UV70
Predicted Effect probably benign
Transcript: ENSMUST00000056050
AA Change: R70G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000050521
Gene: ENSMUSG00000049225
AA Change: R70G

DomainStartEndE-ValueType
PP2Cc 99 523 3.36e-97 SMART
PP2C_SIG 177 525 2.77e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000095144
AA Change: R95G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000092766
Gene: ENSMUSG00000049225
AA Change: R95G

DomainStartEndE-ValueType
PP2Cc 124 548 3.36e-97 SMART
PP2C_SIG 202 550 2.77e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108297
AA Change: R70G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103932
Gene: ENSMUSG00000049225
AA Change: R70G

DomainStartEndE-ValueType
PP2Cc 99 523 3.36e-97 SMART
PP2C_SIG 177 525 2.77e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108299
AA Change: R95G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103934
Gene: ENSMUSG00000049225
AA Change: R95G

DomainStartEndE-ValueType
PP2Cc 124 548 3.36e-97 SMART
PP2C_SIG 202 550 2.77e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108301
AA Change: R129G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103936
Gene: ENSMUSG00000049225
AA Change: R129G

DomainStartEndE-ValueType
low complexity region 11 18 N/A INTRINSIC
PP2Cc 158 582 3.36e-97 SMART
PP2C_SIG 236 584 2.77e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108302
AA Change: R110G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103937
Gene: ENSMUSG00000049225
AA Change: R110G

DomainStartEndE-ValueType
PP2Cc 139 563 3.36e-97 SMART
PP2C_SIG 217 565 2.77e0 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (54/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Pyruvate dehydrogenase (E1) is one of the three components (E1, E2, and E3) of the large pyruvate dehydrogenase complex. Pyruvate dehydrogenase kinases catalyze phosphorylation of serine residues of E1 to inactivate the E1 component and inhibit the complex. Pyruvate dehydrogenase phosphatases catalyze the dephosphorylation and activation of the E1 component to reverse the effects of pyruvate dehydrogenase kinases. Pyruvate dehydrogenase phosphatase is a heterodimer consisting of catalytic and regulatory subunits. Two catalytic subunits have been reported; one is predominantly expressed in skeletal muscle and another one is is much more abundant in the liver. The catalytic subunit, encoded by this gene, is the former, and belongs to the protein phosphatase 2C (PP2C) superfamily. Along with the pyruvate dehydrogenase complex and pyruvate dehydrogenase kinases, this enzyme is located in the mitochondrial matrix. Mutation in this gene causes pyruvate dehydrogenase phosphatase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ang6 A G 14: 44,239,285 (GRCm39) *148Q probably null Het
Ankrd28 A T 14: 31,457,048 (GRCm39) probably null Het
Ark2c G A 18: 77,556,034 (GRCm39) A174V probably benign Het
Aurkc T A 7: 6,999,664 (GRCm39) L57* probably null Het
Brca1 T C 11: 101,416,802 (GRCm39) D444G probably damaging Het
Cd200l1 T A 16: 45,240,235 (GRCm39) I134F possibly damaging Het
Cdhr4 T C 9: 107,872,198 (GRCm39) V204A probably damaging Het
Chd7 A G 4: 8,822,412 (GRCm39) D835G possibly damaging Het
Cux1 C A 5: 136,303,944 (GRCm39) A1328S possibly damaging Het
Cwc27 G T 13: 104,940,772 (GRCm39) P196T probably benign Het
Cwc27 C A 13: 104,940,776 (GRCm39) L194F possibly damaging Het
Cyp39a1 A G 17: 43,993,898 (GRCm39) D186G probably benign Het
Dnah3 T C 7: 119,536,253 (GRCm39) I3677V probably benign Het
Dnmt3b A G 2: 153,516,306 (GRCm39) D477G probably damaging Het
Drc1 A T 5: 30,507,785 (GRCm39) Y269F probably benign Het
Esco2 T C 14: 66,069,118 (GRCm39) H64R probably benign Het
Gcnt3 A T 9: 69,941,959 (GRCm39) V203E probably damaging Het
Gpam A C 19: 55,077,374 (GRCm39) V139G probably damaging Het
Gsta3 G A 1: 21,333,063 (GRCm39) S104N probably damaging Het
Hsd17b13 C T 5: 104,125,049 (GRCm39) G45R probably damaging Het
Ighe T C 12: 113,235,808 (GRCm39) M173V Het
Ipo5 A G 14: 121,183,560 (GRCm39) E1046G probably benign Het
Kank4 T A 4: 98,659,615 (GRCm39) Q821L probably damaging Het
Kat6b G T 14: 21,719,461 (GRCm39) S1271I probably damaging Het
Klhl1 A G 14: 96,619,370 (GRCm39) S176P probably benign Het
Lbhd2 G A 12: 111,378,190 (GRCm39) D86N probably damaging Het
Lrp1 G A 10: 127,394,519 (GRCm39) R2565C probably damaging Het
Lrrc55 A T 2: 85,022,295 (GRCm39) C299S probably benign Het
Mtres1 T C 10: 43,408,915 (GRCm39) Y76C probably benign Het
Nprl3 T A 11: 32,213,083 (GRCm39) S44C probably damaging Het
Nucks1 A G 1: 131,855,829 (GRCm39) H86R possibly damaging Het
Or14j3 A G 17: 37,900,866 (GRCm39) V126A possibly damaging Het
Or4s2 A G 2: 88,473,678 (GRCm39) D189G probably benign Het
Or6c219 T A 10: 129,780,998 (GRCm39) H311L probably benign Het
Ovgp1 T A 3: 105,894,311 (GRCm39) probably benign Het
Oxa1l G A 14: 54,606,001 (GRCm39) probably null Het
Patj C A 4: 98,312,539 (GRCm39) H292Q probably damaging Het
Pcdha9 A G 18: 37,131,636 (GRCm39) N235S probably benign Het
Pcdhb12 A T 18: 37,570,590 (GRCm39) T579S possibly damaging Het
Pde3b A G 7: 114,118,803 (GRCm39) I647M probably benign Het
Prb1a T G 6: 132,185,398 (GRCm39) R78S unknown Het
Prmt8 A C 6: 127,680,976 (GRCm39) probably null Het
Semp2l2a T A 8: 13,888,229 (GRCm39) probably benign Het
Slc35f2 T A 9: 53,716,985 (GRCm39) Y249* probably null Het
Smok2b A C 17: 13,453,908 (GRCm39) M23L probably benign Het
Sra1 A G 18: 36,800,879 (GRCm39) I153T probably benign Het
Stk38l T A 6: 146,660,017 (GRCm39) H16Q possibly damaging Het
Tent5c T A 3: 100,379,784 (GRCm39) H324L probably damaging Het
Unc80 T C 1: 66,732,869 (GRCm39) S3073P possibly damaging Het
Usp24 T C 4: 106,230,953 (GRCm39) I844T probably damaging Het
V1ra8 A T 6: 90,179,916 (GRCm39) I40F probably benign Het
Vmn2r88 T A 14: 51,650,530 (GRCm39) M81K possibly damaging Het
Vps8 T C 16: 21,393,763 (GRCm39) I1182T probably damaging Het
Wdr54 A G 6: 83,130,591 (GRCm39) V181A probably benign Het
Zbed4 A G 15: 88,665,990 (GRCm39) Y686C probably damaging Het
Zfyve28 T C 5: 34,393,480 (GRCm39) N62S possibly damaging Het
Zic1 T C 9: 91,246,424 (GRCm39) Y216C probably damaging Het
Other mutations in Pdp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02243:Pdp1 APN 4 11,961,873 (GRCm39) missense probably benign 0.20
IGL02643:Pdp1 APN 4 11,962,062 (GRCm39) missense probably benign
R1931:Pdp1 UTSW 4 11,962,074 (GRCm39) missense probably benign 0.01
R2162:Pdp1 UTSW 4 11,961,123 (GRCm39) missense probably damaging 0.98
R2418:Pdp1 UTSW 4 11,961,838 (GRCm39) missense probably damaging 0.98
R3843:Pdp1 UTSW 4 11,961,961 (GRCm39) missense probably benign 0.00
R5699:Pdp1 UTSW 4 11,960,907 (GRCm39) missense possibly damaging 0.79
R6479:Pdp1 UTSW 4 11,961,327 (GRCm39) missense probably damaging 1.00
R7221:Pdp1 UTSW 4 11,961,004 (GRCm39) missense probably damaging 0.99
R7263:Pdp1 UTSW 4 11,960,821 (GRCm39) missense possibly damaging 0.82
R9184:Pdp1 UTSW 4 11,962,143 (GRCm39) missense possibly damaging 0.80
R9712:Pdp1 UTSW 4 11,961,607 (GRCm39) missense probably benign 0.41
Z1177:Pdp1 UTSW 4 11,961,639 (GRCm39) missense possibly damaging 0.67
Predicted Primers PCR Primer
(F):5'- TCCTCTATGGGTGCATTTGC -3'
(R):5'- ATCCCAGTCAGAACGTCCAG -3'

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