Incidental Mutation 'R6305:Me2'
ID 509625
Institutional Source Beutler Lab
Gene Symbol Me2
Ensembl Gene ENSMUSG00000024556
Gene Name malic enzyme 2, NAD(+)-dependent, mitochondrial
Synonyms D030040L20Rik
MMRRC Submission 044411-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6305 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 73902974-73948520 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 73924915 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 267 (R267S)
Ref Sequence ENSEMBL: ENSMUSP00000025439 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025439]
AlphaFold Q99KE1
Predicted Effect probably benign
Transcript: ENSMUST00000025439
AA Change: R267S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000025439
Gene: ENSMUSG00000024556
AA Change: R267S

DomainStartEndE-ValueType
malic 89 270 3.48e-98 SMART
Malic_M 280 535 2.21e-103 SMART
Meta Mutation Damage Score 0.0614 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 97% (61/63)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,773,741 (GRCm39) S977P probably damaging Het
Abraxas2 G A 7: 132,476,694 (GRCm39) A145T probably damaging Het
Adcy6 T A 15: 98,496,526 (GRCm39) I550L probably benign Het
Agbl3 G A 6: 34,759,145 (GRCm39) D19N unknown Het
Ankdd1a C T 9: 65,415,343 (GRCm39) A227T possibly damaging Het
Arhgap39 T A 15: 76,621,902 (GRCm39) D233V probably benign Het
Bcl9 G A 3: 97,113,254 (GRCm39) P1067L possibly damaging Het
Casd1 C T 6: 4,641,892 (GRCm39) T723I probably damaging Het
Cd209g T A 8: 4,186,809 (GRCm39) I118N probably benign Het
Cdh24 A T 14: 54,869,813 (GRCm39) D701E possibly damaging Het
Chd9 C T 8: 91,757,174 (GRCm39) P1858S possibly damaging Het
Csnk1g3 T A 18: 54,065,384 (GRCm39) Y322* probably null Het
Cyp2f2 G A 7: 26,828,649 (GRCm39) R173H probably damaging Het
D130043K22Rik T C 13: 25,069,668 (GRCm39) F909S probably damaging Het
Dll4 T A 2: 119,161,138 (GRCm39) S299T probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Dsg4 T A 18: 20,582,847 (GRCm39) Y162N probably damaging Het
Enpp1 T C 10: 24,517,780 (GRCm39) Y882C probably damaging Het
Fbxw7 T A 3: 84,883,630 (GRCm39) N520K probably damaging Het
Galc C T 12: 98,225,549 (GRCm39) A14T possibly damaging Het
Grm7 G A 6: 111,335,626 (GRCm39) R679Q probably damaging Het
Hnrnpdl T C 5: 100,186,517 (GRCm39) probably benign Het
Il12a A T 3: 68,601,511 (GRCm39) K77N possibly damaging Het
Il17rd C T 14: 26,817,899 (GRCm39) S196L possibly damaging Het
Kcnv2 T C 19: 27,301,237 (GRCm39) F363L probably benign Het
Lair1 A G 7: 4,013,727 (GRCm39) probably null Het
Lrit3 G A 3: 129,594,109 (GRCm39) T156I probably damaging Het
Mga T C 2: 119,778,179 (GRCm39) V1908A probably benign Het
Mylk3 T A 8: 86,077,048 (GRCm39) I463F probably damaging Het
Neb G A 2: 52,141,775 (GRCm39) R75* probably null Het
Niban1 T C 1: 151,571,469 (GRCm39) L248P probably damaging Het
Or10a3b C T 7: 108,444,761 (GRCm39) G152D possibly damaging Het
Or1j11 T A 2: 36,311,634 (GRCm39) S75T probably damaging Het
Or5p50 T G 7: 107,421,864 (GRCm39) T271P probably benign Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Or8b36 TG TGGTGTTGG 9: 37,937,838 (GRCm39) probably null Het
Or8k33 A G 2: 86,383,839 (GRCm39) S210P possibly damaging Het
Pfas A G 11: 68,892,023 (GRCm39) S162P possibly damaging Het
Pip5k1c T A 10: 81,151,768 (GRCm39) V654E probably benign Het
Plxdc1 C A 11: 97,829,416 (GRCm39) C318F probably damaging Het
Qrfprl A T 6: 65,431,975 (GRCm39) M293L probably benign Het
Rbm8a2 T C 1: 175,806,312 (GRCm39) D55G probably benign Het
Rexo5 A T 7: 119,427,348 (GRCm39) K419N probably damaging Het
Septin4 C T 11: 87,458,145 (GRCm39) T173M probably benign Het
Slc13a2 CGTTATCTGT CGT 11: 78,294,306 (GRCm39) probably benign Het
Slc24a4 C A 12: 102,188,360 (GRCm39) T151K possibly damaging Het
Slc6a15 A T 10: 103,225,031 (GRCm39) I40F probably benign Het
Slc6a21 T C 7: 44,930,028 (GRCm39) V172A possibly damaging Het
Thrap3 A G 4: 126,074,600 (GRCm39) probably benign Het
Tm9sf3 A G 19: 41,233,881 (GRCm39) probably null Het
Trp53 A T 11: 69,479,533 (GRCm39) H211L probably damaging Het
Ttc21b A T 2: 66,018,614 (GRCm39) N1264K probably damaging Het
Vmn1r120 A T 7: 20,787,531 (GRCm39) V60E possibly damaging Het
Ylpm1 A G 12: 85,077,319 (GRCm39) E890G probably damaging Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Zfp934 T C 13: 62,666,370 (GRCm39) Y102C probably damaging 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
R0119:Me2 UTSW 18 73,903,744 (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
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'- ATAACTCTTTGGGCCGCAAG -3'
(R):5'- CTGGCTCTAGATTTTCACAAGCTC -3'

Sequencing Primer
(F):5'- TCTTTGGGCCGCAAGAAGAC -3'
(R):5'- CTCTGAAGCTCATGGCCTTGAG -3'
Posted On 2018-04-02