Incidental Mutation 'R0396:Mdh2'
ID 32030
Institutional Source Beutler Lab
Gene Symbol Mdh2
Ensembl Gene ENSMUSG00000019179
Gene Name malate dehydrogenase 2, NAD (mitochondrial)
Synonyms Mor-1, Mor1, Mdh-2
MMRRC Submission 038602-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0396 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 135778480-135790398 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 135789679 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 263 (V263L)
Ref Sequence ENSEMBL: ENSMUSP00000019323 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019323] [ENSMUST00000138101] [ENSMUST00000196285] [ENSMUST00000200556]
AlphaFold P08249
Predicted Effect probably benign
Transcript: ENSMUST00000019323
AA Change: V263L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000019323
Gene: ENSMUSG00000019179
AA Change: V263L

low complexity region 2 15 N/A INTRINSIC
Pfam:Ldh_1_N 25 168 7.2e-50 PFAM
Pfam:Ldh_1_C 170 334 4.9e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138101
SMART Domains Protein: ENSMUSP00000136225
Gene: ENSMUSG00000019179

low complexity region 2 15 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000196285
SMART Domains Protein: ENSMUSP00000143748
Gene: ENSMUSG00000019179

low complexity region 2 15 N/A INTRINSIC
Pfam:Ldh_1_N 25 79 9.5e-14 PFAM
Pfam:Ldh_1_N 74 140 8.2e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200556
SMART Domains Protein: ENSMUSP00000142993
Gene: ENSMUSG00000019179

Pfam:Ldh_1_N 9 145 1.7e-39 PFAM
Pfam:Ldh_1_C 147 198 3.8e-13 PFAM
Meta Mutation Damage Score 0.0850 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 89.8%
Validation Efficiency 92% (96/104)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Malate dehydrogenase catalyzes the reversible oxidation of malate to oxaloacetate, utilizing the NAD/NADH cofactor system in the citric acid cycle. The protein encoded by this gene is localized to the mitochondria and may play pivotal roles in the malate-aspartate shuttle that operates in the metabolic coordination between cytosol and mitochondria. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
Allele List at MGI
Other mutations in this stock
Total: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik T C 11: 78,268,377 (GRCm38) V467A possibly damaging Het
4933405L10Rik G A 8: 105,709,780 (GRCm38) V194I probably benign Het
Acsm1 A T 7: 119,636,455 (GRCm38) I133F probably damaging Het
Adamts9 T A 6: 92,798,005 (GRCm38) T1676S probably benign Het
Adcy4 T C 14: 55,772,288 (GRCm38) D769G probably benign Het
Aif1 T C 17: 35,171,109 (GRCm38) *148W probably null Het
Akna C T 4: 63,392,126 (GRCm38) probably benign Het
Arhgap32 G A 9: 32,245,255 (GRCm38) probably null Het
Atpaf1 G A 4: 115,785,252 (GRCm38) E92K possibly damaging Het
C1s1 T C 6: 124,533,354 (GRCm38) E378G probably benign Het
Caprin1 T A 2: 103,769,569 (GRCm38) Q108L probably damaging Het
Car13 A T 3: 14,656,239 (GRCm38) H154L probably benign Het
Cdon C A 9: 35,470,130 (GRCm38) N605K probably damaging Het
Ceacam10 G A 7: 24,781,014 (GRCm38) G70E probably damaging Het
Cfap221 G A 1: 119,954,200 (GRCm38) T286M probably benign Het
Cfap61 T C 2: 145,949,944 (GRCm38) F107S possibly damaging Het
Coil C A 11: 88,981,623 (GRCm38) T270N probably benign Het
Crocc2 T G 1: 93,224,214 (GRCm38) probably benign Het
Crot T C 5: 8,969,959 (GRCm38) E461G probably damaging Het
D130052B06Rik G T 11: 33,623,391 (GRCm38) R41L unknown Het
D630045J12Rik T C 6: 38,196,736 (GRCm38) S166G possibly damaging Het
Dennd4a T G 9: 64,862,391 (GRCm38) V460G probably damaging Het
Depdc7 A T 2: 104,727,323 (GRCm38) probably benign Het
Dgkb G A 12: 38,190,135 (GRCm38) probably null Het
Dhx57 T G 17: 80,274,797 (GRCm38) S407R probably benign Het
Dnase2a G T 8: 84,909,763 (GRCm38) probably benign Het
Dqx1 T G 6: 83,059,005 (GRCm38) M106R probably benign Het
Eno1b T C 18: 48,047,739 (GRCm38) I328T probably benign Het
Ephx2 T G 14: 66,108,063 (GRCm38) I151L probably benign Het
Gdf3 C T 6: 122,607,135 (GRCm38) G91D probably damaging Het
Gm14124 G A 2: 150,268,053 (GRCm38) G221D probably damaging Het
Gpc5 T A 14: 115,428,208 (GRCm38) N481K possibly damaging Het
Gsdme T A 6: 50,221,107 (GRCm38) H291L probably benign Het
H2-Bl A G 17: 36,083,722 (GRCm38) I103T possibly damaging Het
Hif3a G A 7: 17,052,021 (GRCm38) probably benign Het
Hmox2 A T 16: 4,765,763 (GRCm38) I232L probably benign Het
Itgb2 A G 10: 77,561,189 (GRCm38) Y686C probably damaging Het
Jmjd1c A G 10: 67,219,523 (GRCm38) T528A possibly damaging Het
Kdr T C 5: 75,960,728 (GRCm38) I541V possibly damaging Het
Khdrbs2 C A 1: 32,519,973 (GRCm38) V343L probably damaging Het
Kif16b C T 2: 142,853,659 (GRCm38) R175H probably damaging Het
Klri2 T G 6: 129,740,288 (GRCm38) E44A possibly damaging Het
Kmt2b G T 7: 30,576,755 (GRCm38) T1773K probably damaging Het
Lair1 A G 7: 4,010,786 (GRCm38) L154P probably damaging Het
Larp1b G A 3: 40,970,561 (GRCm38) V158M probably damaging Het
Lgi3 T A 14: 70,534,840 (GRCm38) I275N probably damaging Het
Lrba A G 3: 86,295,179 (GRCm38) N246D probably damaging Het
Lrrc45 T A 11: 120,714,907 (GRCm38) probably benign Het
Myom1 T A 17: 71,034,693 (GRCm38) V149E probably damaging Het
Nanos1 A T 19: 60,757,041 (GRCm38) D259V probably damaging Het
Nedd4l T A 18: 65,161,654 (GRCm38) probably benign Het
Npas3 A G 12: 53,831,745 (GRCm38) Y150C probably damaging Het
Olfr1066 T C 2: 86,456,019 (GRCm38) N84S possibly damaging Het
Olfr1129 T A 2: 87,575,567 (GRCm38) V161D possibly damaging Het
Olfr1392 A T 11: 49,293,338 (GRCm38) I6F probably benign Het
Olfr479 A T 7: 108,055,963 (GRCm38) H327L probably benign Het
Olfr672 G A 7: 104,996,706 (GRCm38) A66V probably damaging Het
Olfr93 C T 17: 37,151,555 (GRCm38) C139Y probably damaging Het
Pde4c A G 8: 70,750,076 (GRCm38) N637S probably benign Het
Pds5b T A 5: 150,779,275 (GRCm38) V824D possibly damaging Het
Pole2 A T 12: 69,222,386 (GRCm38) probably benign Het
Ppig C T 2: 69,735,976 (GRCm38) probably benign Het
Prep A G 10: 45,092,676 (GRCm38) Y90C probably damaging Het
Proca1 A T 11: 78,194,905 (GRCm38) R11S probably damaging Het
Prph T A 15: 99,056,991 (GRCm38) W313R probably benign Het
Prune2 C T 19: 17,123,080 (GRCm38) P1983S probably benign Het
Ptbp2 G A 3: 119,724,198 (GRCm38) probably benign Het
Rsph6a C T 7: 19,074,106 (GRCm38) P398L probably damaging Het
Sdk2 T C 11: 113,829,967 (GRCm38) I1379V probably benign Het
Sf3b1 C T 1: 55,019,271 (GRCm38) G53E probably damaging Het
Slc9a3 T C 13: 74,157,784 (GRCm38) probably null Het
Smarcal1 A T 1: 72,626,473 (GRCm38) H710L probably benign Het
Soat2 GAGAAG GAG 15: 102,150,707 (GRCm38) probably benign Het
Sptan1 T C 2: 29,991,033 (GRCm38) V438A probably damaging Het
Sstr4 T A 2: 148,396,261 (GRCm38) V264D probably damaging Het
Susd2 A G 10: 75,639,911 (GRCm38) L418P probably damaging Het
Synj1 A G 16: 90,938,640 (GRCm38) V1475A probably benign Het
Szt2 G A 4: 118,376,347 (GRCm38) probably benign Het
Tbc1d4 T C 14: 101,458,063 (GRCm38) probably null Het
Tesk1 A G 4: 43,446,000 (GRCm38) E311G probably damaging Het
Tmed5 A T 5: 108,126,016 (GRCm38) V119E probably damaging Het
Tmem260 T C 14: 48,486,867 (GRCm38) S201P possibly damaging Het
Tnxb A G 17: 34,671,733 (GRCm38) Y350C probably damaging Het
Tpte T C 8: 22,335,608 (GRCm38) probably benign Het
Trim37 A T 11: 87,146,968 (GRCm38) D161V probably damaging Het
Trrap C A 5: 144,814,556 (GRCm38) Q1640K probably damaging Het
Tspoap1 T C 11: 87,776,346 (GRCm38) probably benign Het
Ttk T A 9: 83,847,260 (GRCm38) probably benign Het
Vmn1r172 A G 7: 23,660,532 (GRCm38) S281G probably benign Het
Vmn1r177 A G 7: 23,865,597 (GRCm38) S285P probably damaging Het
Vmn1r231 C T 17: 20,890,399 (GRCm38) V85I probably damaging Het
Vmn2r100 C A 17: 19,522,120 (GRCm38) P252Q possibly damaging Het
Vmn2r118 T C 17: 55,608,643 (GRCm38) I436V probably benign Het
Vmn2r12 T C 5: 109,092,899 (GRCm38) K116R probably benign Het
Vmn2r28 T A 7: 5,488,514 (GRCm38) I245L probably benign Het
Wdr26 A T 1: 181,180,651 (GRCm38) probably benign Het
Xrcc3 A T 12: 111,809,957 (GRCm38) H67Q probably benign Het
Zbbx A T 3: 75,078,495 (GRCm38) S417T possibly damaging Het
Zc3h13 A G 14: 75,323,482 (GRCm38) D504G unknown Het
Zfp217 C T 2: 170,115,462 (GRCm38) A539T probably benign Het
Zyg11b A T 4: 108,255,308 (GRCm38) F388I probably damaging Het
Other mutations in Mdh2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Mdh2 APN 5 135,786,284 (GRCm38) missense probably damaging 1.00
IGL01413:Mdh2 APN 5 135,786,025 (GRCm38) missense probably damaging 0.99
IGL01418:Mdh2 APN 5 135,786,025 (GRCm38) missense probably damaging 0.99
IGL03290:Mdh2 APN 5 135,789,713 (GRCm38) missense probably damaging 1.00
R0492:Mdh2 UTSW 5 135,790,150 (GRCm38) missense possibly damaging 0.54
R4977:Mdh2 UTSW 5 135,783,409 (GRCm38) missense probably damaging 1.00
R5162:Mdh2 UTSW 5 135,783,475 (GRCm38) critical splice donor site probably null
R5839:Mdh2 UTSW 5 135,783,292 (GRCm38) splice site probably null
R6821:Mdh2 UTSW 5 135,789,671 (GRCm38) missense possibly damaging 0.49
R8690:Mdh2 UTSW 5 135,786,028 (GRCm38) missense probably benign 0.39
R8734:Mdh2 UTSW 5 135,784,129 (GRCm38) intron probably benign
R8973:Mdh2 UTSW 5 135,790,165 (GRCm38) missense possibly damaging 0.71
Z1176:Mdh2 UTSW 5 135,789,629 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2013-04-24