Incidental Mutation 'IGL01361:Mpc2'
ID 75737
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mpc2
Ensembl Gene ENSMUSG00000026568
Gene Name mitochondrial pyruvate carrier 2
Synonyms 2010002I07Rik, ESTM43, 0610006C01Rik, Brp44, 2610205H19Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.137) question?
Stock # IGL01361
Quality Score
Status
Chromosome 1
Chromosomal Location 165288829-165308787 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 165307092 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 98 (A98S)
Ref Sequence ENSEMBL: ENSMUSP00000027853 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027853] [ENSMUST00000193575]
AlphaFold Q9D023
Predicted Effect probably benign
Transcript: ENSMUST00000027853
AA Change: A98S

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000027853
Gene: ENSMUSG00000026568
AA Change: A98S

DomainStartEndE-ValueType
Pfam:MPC 27 127 2.5e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128633
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138999
Predicted Effect probably benign
Transcript: ENSMUST00000193575
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd36 T A 11: 5,546,706 (GRCm39) probably benign Het
C1qtnf3 G A 15: 10,960,768 (GRCm39) G157D probably damaging Het
Cacna1b T C 2: 24,569,107 (GRCm39) E940G possibly damaging Het
Camta1 A G 4: 151,229,149 (GRCm39) L561P probably damaging Het
Car15 T C 16: 17,655,718 (GRCm39) Y27C probably damaging Het
Catsper1 G T 19: 5,389,507 (GRCm39) S474I probably damaging Het
Cps1 A G 1: 67,234,304 (GRCm39) D897G probably benign Het
Crtc1 A G 8: 70,840,253 (GRCm39) L540P probably damaging Het
Fdps A G 3: 89,001,749 (GRCm39) probably benign Het
Gprc6a A G 10: 51,491,526 (GRCm39) I741T probably damaging Het
Hdac7 A C 15: 97,709,323 (GRCm39) M47R possibly damaging Het
Kalrn T C 16: 33,996,092 (GRCm39) probably benign Het
Kat14 C A 2: 144,248,540 (GRCm39) probably null Het
Kcnu1 T C 8: 26,376,796 (GRCm39) V390A possibly damaging Het
Kdm5a T A 6: 120,375,977 (GRCm39) Y578N probably damaging Het
Lrp1b T C 2: 41,000,763 (GRCm39) probably benign Het
Nek10 T C 14: 14,850,957 (GRCm38) I334T probably damaging Het
Nufip2 T A 11: 77,583,196 (GRCm39) V370E possibly damaging Het
Nup160 C A 2: 90,514,356 (GRCm39) Y101* probably null Het
Obscn T A 11: 58,919,715 (GRCm39) Y6174F probably damaging Het
Omp A T 7: 97,794,489 (GRCm39) I46N probably benign Het
Pcbp4 A T 9: 106,340,448 (GRCm39) probably null Het
Pctp A G 11: 89,879,552 (GRCm39) V103A probably damaging Het
Pla2r1 A G 2: 60,309,814 (GRCm39) Y590H probably damaging Het
Ppfibp2 T C 7: 107,343,508 (GRCm39) probably null Het
Reln G A 5: 22,124,019 (GRCm39) T2829M probably benign Het
Sh3yl1 T A 12: 30,989,563 (GRCm39) probably benign Het
Sipa1l3 A T 7: 29,048,112 (GRCm39) Y210N probably damaging Het
Slc33a1 C A 3: 63,850,833 (GRCm39) C497F probably damaging Het
Srp9 G A 1: 181,958,902 (GRCm39) C25Y probably damaging Het
Traf4 C A 11: 78,056,226 (GRCm39) R14L possibly damaging Het
Tut7 A T 13: 59,933,614 (GRCm39) I894K probably damaging Het
Usf3 C A 16: 44,033,000 (GRCm39) probably null Het
Vmn2r85 T C 10: 130,254,690 (GRCm39) T665A probably benign Het
Vps13a C T 19: 16,720,371 (GRCm39) A405T probably damaging Het
Zan A T 5: 137,412,604 (GRCm39) probably benign Het
Other mutations in Mpc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6631:Mpc2 UTSW 1 165,307,081 (GRCm39) missense probably benign 0.44
R7346:Mpc2 UTSW 1 165,307,080 (GRCm39) missense probably damaging 0.98
R8174:Mpc2 UTSW 1 165,308,458 (GRCm39) splice site probably null
Posted On 2013-10-07