Incidental Mutation 'IGL02292:Pdpr'
ID290085
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 #IGL02292
Quality Score
Status
Chromosome8
Chromosomal Location111094630-111137074 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 111125680 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 560 (V560I)
Ref Sequence ENSEMBL: ENSMUSP00000046639 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039333] [ENSMUST00000144377]
Predicted Effect probably damaging
Transcript: ENSMUST00000039333
AA Change: V560I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000046639
Gene: ENSMUSG00000033624
AA Change: V560I

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 noncoding transcript
Transcript: ENSMUST00000127301
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143719
Predicted Effect possibly damaging
Transcript: ENSMUST00000144377
AA Change: V560I

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121325
Gene: ENSMUSG00000033624
AA Change: V560I

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik A G 7: 27,564,557 M51V probably benign Het
Abcb5 C T 12: 118,918,197 G599D probably damaging Het
Aim2 T A 1: 173,462,274 I261N probably benign Het
Alpk3 A G 7: 81,077,905 H261R possibly damaging Het
Ankrd12 G A 17: 66,042,587 H84Y probably damaging Het
Ankrd17 T C 5: 90,252,859 probably benign Het
Apc2 C T 10: 80,302,424 P139S possibly damaging Het
Cct7 A G 6: 85,461,109 Y111C probably benign Het
Cd226 G A 18: 89,207,092 V38I possibly damaging Het
Cdh3 A G 8: 106,545,201 Y582C probably damaging Het
Csmd1 T C 8: 16,211,870 D871G probably damaging Het
Cyp4a31 A T 4: 115,566,501 N133I probably damaging Het
Fem1b T C 9: 62,796,695 I428V probably benign Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Flrt3 G A 2: 140,660,125 P528S probably damaging Het
Gm9476 A C 10: 100,307,184 noncoding transcript Het
Itgae T C 11: 73,118,535 I515T probably damaging Het
Itih1 T A 14: 30,933,355 probably null Het
Map3k4 A G 17: 12,235,158 V1419A possibly damaging Het
Mfsd6l A T 11: 68,557,750 I476L probably benign Het
Mrpl2 T C 17: 46,648,231 probably benign Het
Mrpl37 A G 4: 107,060,532 L314P probably damaging Het
Msto1 C A 3: 88,911,824 R205S probably benign Het
Myh9 A T 15: 77,807,996 I121N probably damaging Het
Olfr1201 G A 2: 88,795,287 V302I probably benign Het
Omt2a G A 9: 78,313,339 R20C possibly damaging Het
Rimkla A T 4: 119,468,352 C287S probably damaging Het
Shcbp1l T A 1: 153,436,145 probably benign Het
Tm7sf2 T A 19: 6,063,568 K111I probably damaging Het
Tnfrsf21 A G 17: 43,039,911 E322G probably benign Het
Ttn A G 2: 76,881,199 probably benign Het
Zbtb20 T A 16: 43,610,648 Y507* 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
IGL02749:Pdpr APN 8 111118090 missense probably benign 0.01
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