Incidental Mutation 'IGL02749:Pdpr'
ID306222
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdpr
Ensembl Gene ENSMUSG00000033624
Gene Namepyruvate dehydrogenase phosphatase regulatory subunit
Synonyms4930402E16Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.275) question?
Stock #IGL02749
Quality Score
Status
Chromosome8
Chromosomal Location111094630-111137074 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 111118090 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 373 (V373E)
Ref Sequence ENSEMBL: ENSMUSP00000046639 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039333] [ENSMUST00000144377]
Predicted Effect probably benign
Transcript: ENSMUST00000039333
AA Change: V373E

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000046639
Gene: ENSMUSG00000033624
AA Change: V373E

DomainStartEndE-ValueType
low complexity region 20 35 N/A INTRINSIC
Pfam:FAD_binding_2 43 235 8.3e-8 PFAM
Pfam:DAO 43 401 1.5e-58 PFAM
Pfam:FAO_M 404 459 1.2e-19 PFAM
Pfam:GCV_T 461 738 4.7e-71 PFAM
Pfam:GCV_T_C 746 854 1.4e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144377
AA Change: V373E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000121325
Gene: ENSMUSG00000033624
AA Change: V373E

DomainStartEndE-ValueType
low complexity region 20 35 N/A INTRINSIC
Pfam:FAD_binding_2 43 236 2.4e-8 PFAM
Pfam:DAO 43 401 3.3e-72 PFAM
Pfam:GCV_T 522 667 1.4e-29 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Pyruvate dehydrogenase complex (PDC) catalyzes the oxidative decarboxylation of pyruvate and links glycolysis to the tricarboxylic acid cycle and fatty acid synthesis. The dephosphorylation and reactivation of PDC is catalyzed by pyruvate dehydrogenase phosphatase (PDP). The dimeric PDP has a catalytic subunit and a regulatory subunit. This gene encodes the FAD-containing regulatory subunit of PDP. The encoded protein acts to decrease the sensitivity of the PDP catalytic subunit to magnesium ions. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2017]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830473C10Rik T C 5: 90,571,765 V240A possibly damaging Het
9230104M06Rik T C 12: 113,000,175 D61G probably benign Het
Ascc2 G A 11: 4,640,481 probably null Het
Atrn G T 2: 130,947,734 probably benign Het
Atrn C T 2: 130,970,144 Q670* probably null Het
Calr A C 8: 84,844,488 W236G probably damaging Het
Camk2g T A 14: 20,766,016 probably null Het
Cd101 G T 3: 101,020,399 T122K probably damaging Het
Col4a3bp T A 13: 96,629,135 N469K possibly damaging Het
Cryl1 T C 14: 57,303,724 T168A probably benign Het
Diaph3 A G 14: 86,918,825 I684T probably damaging Het
Ednrb A T 14: 103,823,059 M266K possibly damaging Het
Eif4h T C 5: 134,639,292 D3G probably damaging Het
Eny2 C T 15: 44,429,635 R28C possibly damaging Het
Epsti1 A G 14: 77,939,923 E181G probably damaging Het
Ezh2 A G 6: 47,533,764 F598S probably damaging Het
Fat3 G T 9: 16,006,711 T1472K possibly damaging Het
Gabra4 T A 5: 71,638,147 I262F probably benign Het
Gm15448 A G 7: 3,822,625 I415T probably damaging Het
Gpat4 A T 8: 23,180,870 Y109N probably damaging Het
Gpsm1 C T 2: 26,339,675 T36I probably damaging Het
Hikeshi C T 7: 89,935,889 V36I possibly damaging Het
Hip1 T C 5: 135,444,751 M238V probably benign Het
Hnrnpll A T 17: 80,061,991 M1K probably null Het
Irx2 G A 13: 72,631,310 D238N probably damaging Het
Kcnip4 T A 5: 48,409,785 probably benign Het
Lair1 G A 7: 4,028,901 T69I possibly damaging Het
Lamc1 A G 1: 153,249,853 I558T possibly damaging Het
Map4k5 C T 12: 69,815,806 E639K probably benign Het
Mc4r A G 18: 66,859,662 S127P probably damaging Het
Mmp23 A G 4: 155,651,532 M221T possibly damaging Het
Mre11a T C 9: 14,826,591 S587P possibly damaging Het
Myh9 A T 15: 77,807,986 Y124* probably null Het
Nek9 C A 12: 85,305,507 A861S probably benign Het
Nup155 T A 15: 8,134,076 Y576N probably damaging Het
Olfr1128 C T 2: 87,544,657 V296M probably damaging Het
Pcca A T 14: 122,534,388 T8S probably benign Het
Pcdh15 A G 10: 74,631,068 D1573G probably benign Het
Pdzph1 A T 17: 58,932,483 L950Q possibly damaging Het
Prss35 A C 9: 86,756,244 K356Q probably damaging Het
Psg22 A T 7: 18,723,019 T237S possibly damaging Het
Rdh13 A G 7: 4,427,704 Y252H probably damaging Het
Sema3d T C 5: 12,563,145 probably benign Het
Slc35b2 G A 17: 45,566,567 V207I probably benign Het
Sparcl1 T G 5: 104,092,880 E226A possibly damaging Het
Srms C A 2: 181,209,509 A155S possibly damaging Het
Tas2r107 A T 6: 131,659,954 I44N probably damaging Het
Tmem236 C T 2: 14,219,321 T307M probably damaging Het
Ush2a C T 1: 188,946,958 P4788S probably damaging Het
Vmn1r170 A T 7: 23,606,291 L39F probably benign Het
Vmn2r90 T A 17: 17,726,860 *121R probably null Het
Other mutations in Pdpr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Pdpr APN 8 111102072 missense possibly damaging 0.69
IGL01116:Pdpr APN 8 111112710 missense possibly damaging 0.84
IGL01353:Pdpr APN 8 111121278 splice site probably null
IGL01681:Pdpr APN 8 111132936 missense probably damaging 1.00
IGL01785:Pdpr APN 8 111129656 missense probably damaging 0.98
IGL02115:Pdpr APN 8 111103998 missense probably damaging 1.00
IGL02292:Pdpr APN 8 111125680 missense probably damaging 1.00
IGL03296:Pdpr APN 8 111114798 missense probably damaging 1.00
R0730:Pdpr UTSW 8 111125755 critical splice donor site probably null
R1510:Pdpr UTSW 8 111124475 splice site probably benign
R1837:Pdpr UTSW 8 111134734 missense probably damaging 1.00
R1838:Pdpr UTSW 8 111134734 missense probably damaging 1.00
R2144:Pdpr UTSW 8 111118036 missense probably damaging 0.97
R4214:Pdpr UTSW 8 111129580 intron probably benign
R4812:Pdpr UTSW 8 111116717 missense probably benign 0.00
R4863:Pdpr UTSW 8 111101951 missense probably benign 0.01
R4998:Pdpr UTSW 8 111114768 missense probably damaging 1.00
R5579:Pdpr UTSW 8 111123816 missense probably damaging 1.00
R5665:Pdpr UTSW 8 111114811 missense possibly damaging 0.55
R5739:Pdpr UTSW 8 111134620 missense possibly damaging 0.78
R6675:Pdpr UTSW 8 111101900 nonsense probably null
R6785:Pdpr UTSW 8 111124611 missense probably benign 0.00
R6889:Pdpr UTSW 8 111124613 critical splice donor site probably null
Posted On2015-04-16