Incidental Mutation 'IGL02687:Mpc1'
ID 303603
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mpc1
Ensembl Gene ENSMUSG00000023861
Gene Name mitochondrial pyruvate carrier 1
Synonyms 0610006G08Rik, 3830411I18Rik, Brp44l
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # IGL02687
Quality Score
Status
Chromosome 17
Chromosomal Location 8502590-8516499 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 8515975 bp (GRCm39)
Zygosity Heterozygous
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] [ENSMUST00000155364] [ENSMUST00000142594] [ENSMUST00000145402]
AlphaFold P63030
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 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
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 noncoding transcript
Transcript: ENSMUST00000137344
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147427
Predicted Effect probably benign
Transcript: ENSMUST00000145402
SMART Domains Protein: ENSMUSP00000122214
Gene: ENSMUSG00000023861

DomainStartEndE-ValueType
Pfam:MPC 7 78 5.4e-30 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: 110,005,058 (GRCm39) V1315A probably damaging Het
Adam2 A T 14: 66,306,639 (GRCm39) C117S probably damaging Het
Arpp21 T A 9: 111,894,883 (GRCm39) R792* probably null Het
Atp13a3 A G 16: 30,156,369 (GRCm39) M938T probably damaging Het
Atp6v0a2 C T 5: 124,791,206 (GRCm39) T545M possibly damaging Het
BC051019 T C 7: 109,315,559 (GRCm39) D84G possibly damaging Het
Bdkrb1 T A 12: 105,571,091 (GRCm39) L219H probably damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cfap46 T C 7: 139,187,117 (GRCm39) D2415G probably damaging Het
Csgalnact2 T C 6: 118,101,376 (GRCm39) probably null Het
Cyp4a29 T C 4: 115,108,397 (GRCm39) C374R probably damaging Het
Dgkb C A 12: 38,680,628 (GRCm39) P776Q possibly damaging Het
Duox1 A T 2: 122,166,896 (GRCm39) K1005M probably damaging Het
Dusp6 C A 10: 99,102,044 (GRCm39) F343L probably damaging Het
Espl1 C T 15: 102,221,613 (GRCm39) probably benign Het
Filip1l T C 16: 57,391,490 (GRCm39) S455P probably benign Het
Gm7995 A G 14: 42,133,362 (GRCm39) I81V probably damaging Het
Lingo4 T C 3: 94,309,404 (GRCm39) L114P probably damaging Het
Mfsd6 A G 1: 52,747,834 (GRCm39) S344P probably damaging Het
Myh11 T A 16: 14,030,482 (GRCm39) K1143* probably null Het
Nek10 T C 14: 14,840,570 (GRCm38) L152P probably damaging Het
Or52ab7 C T 7: 102,978,607 (GRCm39) R305* probably null Het
Or5ak25 T A 2: 85,268,930 (GRCm39) N191Y possibly damaging Het
Or6c217 T C 10: 129,737,971 (GRCm39) M203V probably benign Het
Rab11a A G 9: 64,633,980 (GRCm39) I119T probably damaging Het
Spata31d1d T A 13: 59,875,678 (GRCm39) H619L possibly damaging Het
Ulk4 A T 9: 121,021,728 (GRCm39) V661E possibly damaging Het
Vmn1r199 T C 13: 22,566,961 (GRCm39) V85A possibly damaging Het
Other mutations in Mpc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1897:Mpc1 UTSW 17 8,515,710 (GRCm39) missense possibly damaging 0.82
R3942:Mpc1 UTSW 17 8,507,420 (GRCm39) splice site probably null
R4770:Mpc1 UTSW 17 8,512,377 (GRCm39) intron probably benign
R5188:Mpc1 UTSW 17 8,515,215 (GRCm39) intron probably benign
R6484:Mpc1 UTSW 17 8,515,788 (GRCm39) missense possibly damaging 0.90
R7852:Mpc1 UTSW 17 8,515,740 (GRCm39) missense probably damaging 0.99
R8090:Mpc1 UTSW 17 8,515,705 (GRCm39) missense probably benign 0.07
R8995:Mpc1 UTSW 17 8,502,784 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16