Incidental Mutation 'IGL01361:Mpc2'
ID75737
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mpc2
Ensembl Gene ENSMUSG00000026568
Gene Namemitochondrial pyruvate carrier 2
Synonyms2010002I07Rik, Brp44, 0610006C01Rik, 2610205H19Rik, ESTM43
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.184) question?
Stock #IGL01361
Quality Score
Status
Chromosome1
Chromosomal Location165460637-165481214 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 165479523 bp
ZygosityHeterozygous
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]
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: 5,596,706 probably benign Het
C1qtnf3 G A 15: 10,960,682 G157D probably damaging Het
Cacna1b T C 2: 24,679,095 E940G possibly damaging Het
Camta1 A G 4: 151,144,692 L561P probably damaging Het
Car15 T C 16: 17,837,854 Y27C probably damaging Het
Catsper1 G T 19: 5,339,479 S474I probably damaging Het
Cps1 A G 1: 67,195,145 D897G probably benign Het
Crtc1 A G 8: 70,387,603 L540P probably damaging Het
Fdps A G 3: 89,094,442 probably benign Het
Gprc6a A G 10: 51,615,430 I741T probably damaging Het
Hdac7 A C 15: 97,811,442 M47R possibly damaging Het
Kalrn T C 16: 34,175,722 probably benign Het
Kat14 C A 2: 144,406,620 probably null Het
Kcnu1 T C 8: 25,886,768 V390A possibly damaging Het
Kdm5a T A 6: 120,399,016 Y578N probably damaging Het
Lrp1b T C 2: 41,110,751 probably benign Het
Nek10 T C 14: 14,850,957 I334T probably damaging Het
Nufip2 T A 11: 77,692,370 V370E possibly damaging Het
Nup160 C A 2: 90,684,012 Y101* probably null Het
Obscn T A 11: 59,028,889 Y6174F probably damaging Het
Omp A T 7: 98,145,282 I46N probably benign Het
Pcbp4 A T 9: 106,463,249 probably null Het
Pctp A G 11: 89,988,726 V103A probably damaging Het
Pla2r1 A G 2: 60,479,470 Y590H probably damaging Het
Ppfibp2 T C 7: 107,744,301 probably null Het
Reln G A 5: 21,919,021 T2829M probably benign Het
Sh3yl1 T A 12: 30,939,564 probably benign Het
Sipa1l3 A T 7: 29,348,687 Y210N probably damaging Het
Slc33a1 C A 3: 63,943,412 C497F probably damaging Het
Srp9 G A 1: 182,131,337 C25Y probably damaging Het
Traf4 C A 11: 78,165,400 R14L possibly damaging Het
Usf3 C A 16: 44,212,637 probably null Het
Vmn2r85 T C 10: 130,418,821 T665A probably benign Het
Vps13a C T 19: 16,743,007 A405T probably damaging Het
Zan A T 5: 137,414,342 probably benign Het
Zcchc6 A T 13: 59,785,800 I894K probably damaging Het
Other mutations in Mpc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6631:Mpc2 UTSW 1 165479512 missense probably benign 0.44
R7346:Mpc2 UTSW 1 165479511 missense probably damaging 0.98
Posted On2013-10-07