Incidental Mutation 'R4052:Me2'
ID 314227
Institutional Source Beutler Lab
Gene Symbol Me2
Ensembl Gene ENSMUSG00000024556
Gene Name malic enzyme 2, NAD(+)-dependent, mitochondrial
Synonyms D030040L20Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4052 ()
Quality Score 82
Status Not validated
Chromosome 18
Chromosomal Location 73902974-73948520 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 73924156 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 352 (K352R)
Ref Sequence ENSEMBL: ENSMUSP00000025439 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025439]
AlphaFold Q99KE1
Predicted Effect probably benign
Transcript: ENSMUST00000025439
AA Change: K352R

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000025439
Gene: ENSMUSG00000024556
AA Change: K352R

DomainStartEndE-ValueType
malic 89 270 3.48e-98 SMART
Malic_M 280 535 2.21e-103 SMART
Meta Mutation Damage Score 0.0807 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.5%
Validation Efficiency
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110070M22Rik T G 13: 119,624,738 (GRCm39) probably benign Het
Abca8b G A 11: 109,872,551 (GRCm39) Q17* probably null Het
Abcc6 A C 7: 45,635,987 (GRCm39) L1020R probably damaging Het
Ace2 A G X: 162,952,581 (GRCm39) I110V probably benign Het
Adam29 T C 8: 56,325,317 (GRCm39) Y379C probably damaging Het
Apol10a A T 15: 77,373,185 (GRCm39) I274L probably benign Het
BC005537 T A 13: 24,993,881 (GRCm39) F119I possibly damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Cts3 T A 13: 61,716,535 (GRCm39) I34L probably benign Het
Cyp4a30b A G 4: 115,311,539 (GRCm39) D69G probably benign Het
Dclk2 A G 3: 86,738,129 (GRCm39) probably null Het
Dhx30 A G 9: 109,929,889 (GRCm39) V69A possibly damaging Het
Dis3 T G 14: 99,332,752 (GRCm39) I227L probably benign Het
Dock3 A G 9: 106,850,995 (GRCm39) S836P probably damaging Het
Efhc2 T C X: 17,096,789 (GRCm39) N186S possibly damaging Het
Erap1 A G 13: 74,823,459 (GRCm39) N831S probably benign Het
Gimap3 T A 6: 48,743,447 (GRCm39) T3S possibly damaging Het
Gpr82 C T X: 13,531,898 (GRCm39) P149S probably damaging Het
H3f3a C T 1: 180,630,703 (GRCm39) R117H probably benign Het
Hcn2 A C 10: 79,569,521 (GRCm39) probably null Het
Helz2 A G 2: 180,882,268 (GRCm39) L175P probably damaging Het
Il36b T C 2: 24,049,844 (GRCm39) F152L probably damaging Het
Ino80b G C 6: 83,099,314 (GRCm39) P178R probably damaging Het
Ldlrad3 C T 2: 101,783,507 (GRCm39) D240N probably damaging Het
Lef1 A G 3: 130,988,338 (GRCm39) N236D probably damaging Het
Macf1 A G 4: 123,365,810 (GRCm39) S1419P probably benign Het
Ncapd3 T A 9: 27,000,679 (GRCm39) probably null Het
Or52n3 A G 7: 104,530,810 (GRCm39) T299A probably damaging Het
P2rx7 T C 5: 122,804,340 (GRCm39) F293S probably damaging Het
Pabpc1l T C 2: 163,885,533 (GRCm39) W429R probably benign Het
Parp14 T C 16: 35,678,771 (GRCm39) E399G probably benign Het
Pde6h A G 6: 136,936,266 (GRCm39) D3G unknown Het
Pfkfb1 A T X: 149,405,184 (GRCm39) D208V possibly damaging Het
Rasgrp3 T C 17: 75,803,963 (GRCm39) F89L probably damaging Het
Rif1 A T 2: 51,988,483 (GRCm39) K741* probably null Het
Rnase4 A G 14: 51,342,462 (GRCm39) K62R probably benign Het
Rnf207 C A 4: 152,395,894 (GRCm39) Q533H probably benign Het
Slc24a2 A G 4: 87,145,442 (GRCm39) V204A probably damaging Het
Spry2 A T 14: 106,130,635 (GRCm39) C184S probably damaging Het
Sulf2 T C 2: 165,936,510 (GRCm39) Y152C probably damaging Het
Thrap3 G A 4: 126,070,012 (GRCm39) A625V probably damaging Het
Tmem39a T A 16: 38,406,650 (GRCm39) V329D probably damaging Het
Trav7-3 A G 14: 53,681,203 (GRCm39) T82A probably benign Het
Trim30b T A 7: 104,006,685 (GRCm39) Q57L possibly damaging Het
Uggt1 A G 1: 36,203,570 (GRCm39) V1020A probably damaging Het
Zfp941 T G 7: 140,392,340 (GRCm39) K340Q possibly 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
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'- TAGGCTTAGATGGACAGCCTG -3'
(R):5'- AACAAAGCATATGGGCGTTCC -3'

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