Incidental Mutation 'R3942:Mpc1'
ID 312913
Institutional Source Beutler Lab
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 # R3942 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 8502590-8516499 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 8507420 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046754] [ENSMUST00000124023] [ENSMUST00000142594] [ENSMUST00000142594] [ENSMUST00000145402] [ENSMUST00000155364]
AlphaFold P63030
Predicted Effect probably benign
Transcript: ENSMUST00000046754
SMART Domains Protein: ENSMUSP00000045654
Gene: ENSMUSG00000023861

DomainStartEndE-ValueType
Pfam:MPC 7 108 2.4e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124023
SMART Domains Protein: ENSMUSP00000118386
Gene: ENSMUSG00000023861

DomainStartEndE-ValueType
Pfam:MPC 1 85 5.5e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130639
Predicted Effect probably null
Transcript: ENSMUST00000142594
SMART Domains Protein: ENSMUSP00000119901
Gene: ENSMUSG00000023861

DomainStartEndE-ValueType
low complexity region 13 28 N/A INTRINSIC
Pfam:MPC 70 167 1.1e-37 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000142594
SMART Domains Protein: ENSMUSP00000119901
Gene: ENSMUSG00000023861

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
SMART Domains Protein: ENSMUSP00000119443
Gene: ENSMUSG00000023861

DomainStartEndE-ValueType
Pfam:MPC 7 108 2.4e-40 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T C 13: 81,330,908 (GRCm39) N6049S probably damaging Het
Aph1a C T 3: 95,801,573 (GRCm39) R31W probably damaging Het
Atp10b T C 11: 43,063,581 (GRCm39) V172A probably damaging Het
Atp13a2 T C 4: 140,733,733 (GRCm39) S1041P probably damaging Het
Best3 T A 10: 116,824,579 (GRCm39) F15Y possibly damaging Het
Brinp3 C A 1: 146,627,599 (GRCm39) D277E probably damaging Het
Crb1 A C 1: 139,265,211 (GRCm39) L69R possibly damaging Het
Crcp T C 5: 130,063,791 (GRCm39) probably null Het
Dysf G A 6: 84,163,491 (GRCm39) probably null Het
Hps3 T C 3: 20,051,103 (GRCm39) Y859C probably damaging Het
Irx5 C A 8: 93,086,314 (GRCm39) N132K probably damaging Het
Itgb2 A G 10: 77,393,867 (GRCm39) T436A probably benign Het
Kit A G 5: 75,769,978 (GRCm39) D130G probably benign Het
Krt12 A G 11: 99,312,922 (GRCm39) S41P unknown Het
Lypd6b G T 2: 49,833,552 (GRCm39) S64I probably damaging Het
Or4c109 T A 2: 88,818,455 (GRCm39) L30F probably benign Het
Or5b95 A T 19: 12,657,768 (GRCm39) M99L probably benign Het
Pard3b T A 1: 62,198,611 (GRCm39) I233N probably damaging Het
Pcdh1 A G 18: 38,332,511 (GRCm39) V164A probably benign Het
Pclo A G 5: 14,729,932 (GRCm39) probably benign Het
Pkhd1l1 T C 15: 44,455,422 (GRCm39) probably null Het
Slco1a7 A G 6: 141,673,440 (GRCm39) I366T probably damaging Het
Spata31d1d T C 13: 59,875,276 (GRCm39) Q753R probably benign Het
Stxbp6 A G 12: 44,949,641 (GRCm39) probably null Het
Trav6-5 T C 14: 53,728,838 (GRCm39) S32P probably benign Het
Zp3r A C 1: 130,504,791 (GRCm39) D470E possibly damaging Het
Other mutations in Mpc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02687:Mpc1 APN 17 8,515,975 (GRCm39) missense probably benign 0.14
R1897:Mpc1 UTSW 17 8,515,710 (GRCm39) missense possibly damaging 0.82
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
Predicted Primers PCR Primer
(F):5'- GGTCTGAAGACAGCTACAGTG -3'
(R):5'- GGTGAATGCTAACCTTTTATCCTGC -3'

Sequencing Primer
(F):5'- CTGAAGACAGCTACAGTGTACTTAC -3'
(R):5'- AGACAAAGTCTCCTCTTGTAGC -3'
Posted On 2015-04-30