Incidental Mutation 'IGL02687:Mpc1'
ID303603
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mpc1
Ensembl Gene ENSMUSG00000023861
Gene Namemitochondrial pyruvate carrier 1
SynonymsBrp44l, 3830411I18Rik, 0610006G08Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.094) question?
Stock #IGL02687
Quality Score
Status
Chromosome17
Chromosomal Location8282904-8297661 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 8297143 bp
ZygosityHeterozygous
Amino Acid Change Serine to Asparagine at position 162 (S162N)
Ref Sequence ENSEMBL: ENSMUSP00000119901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046754] [ENSMUST00000124023] [ENSMUST00000130559] [ENSMUST00000142594] [ENSMUST00000145402] [ENSMUST00000155364]
Predicted Effect probably benign
Transcript: ENSMUST00000046754
AA Change: S104N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000045654
Gene: ENSMUSG00000023861
AA Change: S104N

DomainStartEndE-ValueType
Pfam:MPC 7 108 2.4e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123009
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123341
Predicted Effect probably benign
Transcript: ENSMUST00000124023
AA Change: S80N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000118386
Gene: ENSMUSG00000023861
AA Change: S80N

DomainStartEndE-ValueType
Pfam:MPC 1 85 5.5e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130559
AA Change: S81N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000116307
Gene: ENSMUSG00000023861
AA Change: S81N

DomainStartEndE-ValueType
Pfam:MPC 1 86 7.1e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130639
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137344
Predicted Effect probably benign
Transcript: ENSMUST00000142594
AA Change: S162N

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000119901
Gene: ENSMUSG00000023861
AA Change: S162N

DomainStartEndE-ValueType
low complexity region 13 28 N/A INTRINSIC
Pfam:MPC 70 167 1.1e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145402
SMART Domains Protein: ENSMUSP00000122214
Gene: ENSMUSG00000023861

DomainStartEndE-ValueType
Pfam:MPC 7 78 5.4e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147427
Predicted Effect probably benign
Transcript: ENSMUST00000155364
AA Change: S104N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000119443
Gene: ENSMUSG00000023861
AA Change: S104N

DomainStartEndE-ValueType
Pfam:MPC 7 108 2.4e-40 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of an MPC1/MPC2 heterodimer that is responsible for transporting pyruvate into mitochondria. The encoded protein is found in the inner mitochondrial membrane. Defects in this gene are a cause of mitochondrial pyruvate carrier deficiency. Several transcript variants, some protein coding and one non-protein coding, have been found for this gene. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for a conditional allele activated in the liver exhibit altered gluconeogenesis and whole body glucose homeostasis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,114,232 V1315A probably damaging Het
Adam2 A T 14: 66,069,190 C117S probably damaging Het
Arpp21 T A 9: 112,065,815 R792* probably null Het
Atp13a3 A G 16: 30,337,551 M938T probably damaging Het
Atp6v0a2 C T 5: 124,714,142 T545M possibly damaging Het
BC051019 T C 7: 109,716,352 D84G possibly damaging Het
Bdkrb1 T A 12: 105,604,832 L219H probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cfap46 T C 7: 139,607,201 D2415G probably damaging Het
Csgalnact2 T C 6: 118,124,415 probably null Het
Cyp4a29 T C 4: 115,251,200 C374R probably damaging Het
Dgkb C A 12: 38,630,629 P776Q possibly damaging Het
Duox1 A T 2: 122,336,415 K1005M probably damaging Het
Dusp6 C A 10: 99,266,182 F343L probably damaging Het
Espl1 C T 15: 102,313,178 probably benign Het
Filip1l T C 16: 57,571,127 S455P probably benign Het
Gm7995 A G 14: 42,311,405 I81V probably damaging Het
Lingo4 T C 3: 94,402,097 L114P probably damaging Het
Mfsd6 A G 1: 52,708,675 S344P probably damaging Het
Myh11 T A 16: 14,212,618 K1143* probably null Het
Nek10 T C 14: 14,840,570 L152P probably damaging Het
Olfr598 C T 7: 103,329,400 R305* probably null Het
Olfr815 T C 10: 129,902,102 M203V probably benign Het
Olfr995 T A 2: 85,438,586 N191Y possibly damaging Het
Rab11a A G 9: 64,726,698 I119T probably damaging Het
Spata31d1d T A 13: 59,727,864 H619L possibly damaging Het
Ulk4 A T 9: 121,192,662 V661E possibly damaging Het
Vmn1r199 T C 13: 22,382,791 V85A possibly damaging Het
Other mutations in Mpc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1897:Mpc1 UTSW 17 8296878 missense possibly damaging 0.82
R3942:Mpc1 UTSW 17 8288588 splice site probably null
R4770:Mpc1 UTSW 17 8293545 intron probably benign
R5188:Mpc1 UTSW 17 8296383 intron probably benign
R6484:Mpc1 UTSW 17 8296956 missense possibly damaging 0.90
R7852:Mpc1 UTSW 17 8296908 missense probably damaging 0.99
R7935:Mpc1 UTSW 17 8296908 missense probably damaging 0.99
R8090:Mpc1 UTSW 17 8296873 missense probably benign 0.07
Posted On2015-04-16