Incidental Mutation 'R0119:Me2'
ID 21013
Institutional Source Beutler Lab
Gene Symbol Me2
Ensembl Gene ENSMUSG00000024556
Gene Name malic enzyme 2, NAD(+)-dependent, mitochondrial
Synonyms D030040L20Rik
MMRRC Submission 038405-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0119 (G1)
Quality Score 206
Status Validated (trace)
Chromosome 18
Chromosomal Location 73902974-73948520 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 73903744 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 575 (S575P)
Ref Sequence ENSEMBL: ENSMUSP00000025439 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025439]
AlphaFold Q99KE1
Predicted Effect probably benign
Transcript: ENSMUST00000025439
AA Change: S575P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025439
Gene: ENSMUSG00000024556
AA Change: S575P

DomainStartEndE-ValueType
malic 89 270 3.48e-98 SMART
Malic_M 280 535 2.21e-103 SMART
Meta Mutation Damage Score 0.0761 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.2%
Validation Efficiency 99% (68/69)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial NAD-dependent malic enzyme, a homotetrameric protein, that catalyzes the oxidative decarboxylation of malate to pyruvate. It had previously been weakly linked to a syndrome known as Friedreich ataxia that has since been shown to be the result of mutation in a completely different gene. Certain single-nucleotide polymorphism haplotypes of this gene have been shown to increase the risk for idiopathic generalized epilepsy. Alternatively spliced transcript variants encoding different isoforms found for this gene. [provided by RefSeq, Dec 2009]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik G A 18: 70,602,553 (GRCm39) Q87* probably null Het
Abca13 G A 11: 9,248,076 (GRCm39) E2608K probably benign Het
Acad9 T C 3: 36,139,564 (GRCm39) V388A probably damaging Het
Acp3 T C 9: 104,197,201 (GRCm39) E146G probably damaging Het
Adamts18 A G 8: 114,501,585 (GRCm39) I346T possibly damaging Het
Adcy8 T A 15: 64,588,015 (GRCm39) D894V probably damaging Het
Ap3d1 A G 10: 80,559,449 (GRCm39) probably benign Het
Arg2 A G 12: 79,194,386 (GRCm39) D70G probably damaging Het
Cap1 A T 4: 122,761,492 (GRCm39) L130Q probably damaging Het
Carmil1 T A 13: 24,266,003 (GRCm39) N253I probably damaging Het
Caskin2 A G 11: 115,693,253 (GRCm39) probably benign Het
Cd69 C T 6: 129,247,025 (GRCm39) S64N probably benign Het
Cd96 T C 16: 45,858,942 (GRCm39) probably benign Het
Celf6 C A 9: 59,510,161 (GRCm39) T86K probably benign Het
Ces1c A T 8: 93,833,345 (GRCm39) probably benign Het
Ces1c A T 8: 93,834,238 (GRCm39) L351M probably benign Het
Cnih3 T A 1: 181,282,309 (GRCm39) probably benign Het
Col15a1 A T 4: 47,262,950 (GRCm39) D534V probably damaging Het
Cry1 A G 10: 84,969,104 (GRCm39) probably null Het
Csmd3 T C 15: 47,710,527 (GRCm39) T1687A probably benign Het
Def8 G A 8: 124,183,234 (GRCm39) A278T probably damaging Het
Defb13 T C 8: 22,436,877 (GRCm39) probably benign Het
Dnah1 C T 14: 30,998,115 (GRCm39) G2574D probably damaging Het
Dnah8 T A 17: 30,934,483 (GRCm39) F1489L possibly damaging Het
Elmo3 T C 8: 106,036,400 (GRCm39) L668S probably damaging Het
Elp2 T C 18: 24,767,466 (GRCm39) I716T probably benign Het
Fshr C G 17: 89,316,713 (GRCm39) S169T probably benign Het
Gm6327 T C 16: 12,579,061 (GRCm39) noncoding transcript Het
Gm839 A T 6: 89,189,362 (GRCm39) noncoding transcript Het
Gng5 T A 3: 146,209,048 (GRCm39) C39S probably damaging Het
Gpr55 C T 1: 85,869,146 (GRCm39) W145* probably null Het
Hdlbp A C 1: 93,349,059 (GRCm39) probably benign Het
Man2a2 G T 7: 80,017,153 (GRCm39) N305K probably damaging Het
Mier3 T C 13: 111,851,572 (GRCm39) V490A probably damaging Het
Mpdz T C 4: 81,210,768 (GRCm39) T1693A probably benign Het
Mss51 T A 14: 20,534,756 (GRCm39) Q338L possibly damaging Het
Muc4 A T 16: 32,569,013 (GRCm39) probably benign Het
Mug2 T A 6: 122,013,022 (GRCm39) H311Q probably benign Het
Neto1 G A 18: 86,479,445 (GRCm39) R211Q probably benign Het
Nfat5 C T 8: 108,065,707 (GRCm39) R156W probably damaging Het
Nisch A G 14: 30,893,881 (GRCm39) Y1231H probably damaging Het
Obox3 T A 7: 15,360,252 (GRCm39) probably null Het
Optn C T 2: 5,028,926 (GRCm39) G526R probably damaging Het
Or1e34 C T 11: 73,778,656 (GRCm39) V181I probably benign Het
Pcdh15 T C 10: 74,006,407 (GRCm39) F95S probably damaging Het
Pcsk6 T C 7: 65,688,791 (GRCm39) V820A probably benign Het
Pde5a A G 3: 122,542,107 (GRCm39) N199S probably damaging Het
Pdgfrb T A 18: 61,201,924 (GRCm39) V496E probably benign Het
Per3 A G 4: 151,109,005 (GRCm39) probably benign Het
Pip4k2b A T 11: 97,613,762 (GRCm39) probably benign Het
Podn G T 4: 107,878,791 (GRCm39) L359I probably damaging Het
Rad21 A T 15: 51,828,426 (GRCm39) D547E probably benign Het
Rere T G 4: 150,699,779 (GRCm39) probably benign Het
Serpina1d A T 12: 103,732,016 (GRCm39) L281Q probably damaging Het
Serpina9 T C 12: 103,967,729 (GRCm39) N222S probably benign Het
Sh3bgrl2 A G 9: 83,459,612 (GRCm39) K57E probably damaging Het
Sh3bgrl3 A T 4: 133,855,347 (GRCm39) I33N probably damaging Het
Sik3 T C 9: 46,120,038 (GRCm39) M659T possibly damaging Het
Sppl3 T A 5: 115,227,053 (GRCm39) probably benign Het
Tacc2 C A 7: 130,223,605 (GRCm39) Q116K probably damaging Het
Tecta T C 9: 42,263,359 (GRCm39) D1409G probably damaging Het
Tnpo3 A G 6: 29,568,921 (GRCm39) V477A possibly damaging Het
Trim7 G T 11: 48,740,539 (GRCm39) R212L probably damaging Het
Trpm6 T A 19: 18,809,957 (GRCm39) C1118S probably benign Het
Ugcg G C 4: 59,217,036 (GRCm39) V187L possibly damaging Het
Vmn1r27 A G 6: 58,192,704 (GRCm39) F100S possibly damaging Het
Zbtb18 A G 1: 177,275,723 (GRCm39) E361G probably benign Het
Zzef1 T C 11: 72,712,677 (GRCm39) V199A probably benign Het
Other mutations in Me2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:Me2 APN 18 73,903,713 (GRCm39) missense probably benign 0.01
IGL00977:Me2 APN 18 73,924,248 (GRCm39) missense probably benign 0.24
IGL01161:Me2 APN 18 73,903,887 (GRCm39) splice site probably benign
IGL02351:Me2 APN 18 73,931,038 (GRCm39) missense probably benign 0.20
IGL02358:Me2 APN 18 73,931,038 (GRCm39) missense probably benign 0.20
IGL02647:Me2 APN 18 73,930,974 (GRCm39) missense probably benign 0.00
IGL03172:Me2 APN 18 73,903,797 (GRCm39) missense probably benign
Baako UTSW 18 73,931,016 (GRCm39) missense probably damaging 1.00
excavator UTSW 18 73,914,129 (GRCm39) missense probably damaging 1.00
first_born UTSW 18 73,924,199 (GRCm39) nonsense probably null
muster UTSW 18 73,924,915 (GRCm39) missense probably benign 0.01
powerhouse UTSW 18 73,918,800 (GRCm39) missense probably damaging 1.00
roundup UTSW 18 73,903,744 (GRCm39) missense probably benign
R0018:Me2 UTSW 18 73,924,923 (GRCm39) missense possibly damaging 0.93
R0018:Me2 UTSW 18 73,924,923 (GRCm39) missense possibly damaging 0.93
R0032:Me2 UTSW 18 73,927,596 (GRCm39) missense probably benign
R0136:Me2 UTSW 18 73,903,744 (GRCm39) missense probably benign
R0299:Me2 UTSW 18 73,903,744 (GRCm39) missense probably benign
R0657:Me2 UTSW 18 73,903,744 (GRCm39) missense probably benign
R1597:Me2 UTSW 18 73,931,016 (GRCm39) missense probably damaging 1.00
R1638:Me2 UTSW 18 73,906,205 (GRCm39) missense probably benign 0.03
R1765:Me2 UTSW 18 73,924,929 (GRCm39) missense probably damaging 1.00
R1861:Me2 UTSW 18 73,918,785 (GRCm39) missense probably benign 0.11
R2410:Me2 UTSW 18 73,924,183 (GRCm39) missense probably damaging 0.98
R3422:Me2 UTSW 18 73,924,265 (GRCm39) missense probably damaging 0.99
R3954:Me2 UTSW 18 73,914,203 (GRCm39) missense probably damaging 1.00
R3957:Me2 UTSW 18 73,914,203 (GRCm39) missense probably damaging 1.00
R4052:Me2 UTSW 18 73,924,156 (GRCm39) missense probably benign 0.05
R4207:Me2 UTSW 18 73,924,156 (GRCm39) missense probably benign 0.05
R4208:Me2 UTSW 18 73,924,156 (GRCm39) missense probably benign 0.05
R4694:Me2 UTSW 18 73,934,930 (GRCm39) missense probably benign 0.01
R4962:Me2 UTSW 18 73,918,847 (GRCm39) missense probably damaging 1.00
R5527:Me2 UTSW 18 73,924,187 (GRCm39) missense probably damaging 1.00
R6170:Me2 UTSW 18 73,918,852 (GRCm39) missense probably benign 0.07
R6185:Me2 UTSW 18 73,924,199 (GRCm39) nonsense probably null
R6305:Me2 UTSW 18 73,924,915 (GRCm39) missense probably benign 0.01
R6462:Me2 UTSW 18 73,908,470 (GRCm39) missense probably benign 0.17
R7015:Me2 UTSW 18 73,914,218 (GRCm39) splice site probably null
R7085:Me2 UTSW 18 73,914,129 (GRCm39) missense probably damaging 1.00
R7096:Me2 UTSW 18 73,927,961 (GRCm39) missense probably benign 0.05
R9373:Me2 UTSW 18 73,918,800 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCACGTTAACAGCGACAGTACCG -3'
(R):5'- TTCATTTCCCAGCTTGCAGAGTACC -3'

Sequencing Primer
(F):5'- ACAGTATAGCCAGCATGTCTGTC -3'
(R):5'- TTGCAGAGTACCTGTACGC -3'
Posted On 2013-04-11