Incidental Mutation 'R2174:Aldh2'
ID 237684
Institutional Source Beutler Lab
Gene Symbol Aldh2
Ensembl Gene ENSMUSG00000029455
Gene Name aldehyde dehydrogenase 2, mitochondrial
Synonyms Ahd5, Ahd-5
MMRRC Submission 040176-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2174 (G1)
Quality Score 178
Status Validated
Chromosome 5
Chromosomal Location 121704090-121731887 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 121710731 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000031411] [ENSMUST00000129753] [ENSMUST00000152945] [ENSMUST00000199369]
AlphaFold P47738
Predicted Effect probably benign
Transcript: ENSMUST00000031411
SMART Domains Protein: ENSMUSP00000031411
Gene: ENSMUSG00000029455

DomainStartEndE-ValueType
low complexity region 10 26 N/A INTRINSIC
Pfam:Aldedh 47 510 2.9e-185 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129753
SMART Domains Protein: ENSMUSP00000142906
Gene: ENSMUSG00000029455

DomainStartEndE-ValueType
low complexity region 10 26 N/A INTRINSIC
Pfam:Aldedh 47 471 1e-170 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133033
Predicted Effect probably benign
Transcript: ENSMUST00000152945
SMART Domains Protein: ENSMUSP00000123545
Gene: ENSMUSG00000029455

DomainStartEndE-ValueType
low complexity region 10 26 N/A INTRINSIC
Pfam:Aldedh 47 185 1.8e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196694
Predicted Effect probably benign
Transcript: ENSMUST00000199369
SMART Domains Protein: ENSMUSP00000143261
Gene: ENSMUSG00000029455

DomainStartEndE-ValueType
Pfam:Aldedh 1 129 4.2e-43 PFAM
Pfam:Aldedh 125 220 3.6e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200541
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 99% (73/74)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein belongs to the aldehyde dehydrogenase family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. Two major liver isoforms of aldehyde dehydrogenase, cytosolic and mitochondrial, can be distinguished by their electrophoretic mobilities, kinetic properties, and subcellular localizations. Most Caucasians have two major isozymes, while approximately 50% of East Asians have the cytosolic isozyme but not the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among East Asians than among Caucasians could be related to the absence of a catalytically active form of the mitochondrial isozyme. The increased exposure to acetaldehyde in individuals with the catalytically inactive form may also confer greater susceptibility to many types of cancer. This gene encodes a mitochondrial isoform, which has a low Km for acetaldehydes, and is localized in mitochondrial matrix. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Nov 2016]
PHENOTYPE: Homozygous mutation of this gene results in the absence of oxidation activity in the mitochondria. Mice homozygous for a different allele exhibit decreased litter size. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600014C10Rik T C 7: 37,894,252 (GRCm39) I95T possibly damaging Het
Adarb1 A G 10: 77,131,632 (GRCm39) I619T probably benign Het
Antxrl T A 14: 33,782,357 (GRCm39) L180Q probably damaging Het
Asnsd1 A T 1: 53,386,760 (GRCm39) I289N probably benign Het
Asxl3 T G 18: 22,586,701 (GRCm39) S164A possibly damaging Het
Cacnb2 C T 2: 14,963,578 (GRCm39) T108I probably benign Het
Capn2 A T 1: 182,307,290 (GRCm39) I516N probably benign Het
Ccdc59 A T 10: 105,677,388 (GRCm39) K9M possibly damaging Het
Cenpo T C 12: 4,267,318 (GRCm39) K73R probably benign Het
Cfap20dc T C 14: 8,558,109 (GRCm38) I159V probably benign Het
Clasp1 A G 1: 118,487,825 (GRCm39) H823R probably damaging Het
Col6a4 T C 9: 105,937,331 (GRCm39) D1395G probably damaging Het
Ddx60 A G 8: 62,409,175 (GRCm39) I404V probably damaging Het
Ddx60 G T 8: 62,470,234 (GRCm39) M1407I probably benign Het
Dennd3 A T 15: 73,427,154 (GRCm39) R844W probably damaging Het
Depdc1b A T 13: 108,498,787 (GRCm39) K157* probably null Het
Dnai7 T C 6: 145,120,896 (GRCm39) H641R probably damaging Het
Dnajc1 T C 2: 18,312,762 (GRCm39) D196G probably damaging Het
Fanca A G 8: 123,998,009 (GRCm39) W1226R probably benign Het
Fbxl13 A G 5: 21,787,046 (GRCm39) V297A possibly damaging Het
Fnta A T 8: 26,503,498 (GRCm39) F96I possibly damaging Het
Fzd3 T C 14: 65,449,680 (GRCm39) probably benign Het
Gckr T C 5: 31,484,353 (GRCm39) V597A possibly damaging Het
Gm43302 T C 5: 105,422,216 (GRCm39) K496R probably benign Het
Gm5283 A G 3: 17,285,005 (GRCm39) noncoding transcript Het
Gm6741 A G 17: 91,544,332 (GRCm39) I32V probably benign Het
Gnptab T A 10: 88,269,906 (GRCm39) F870I probably damaging Het
Gpx8 G A 13: 113,182,140 (GRCm39) P98S probably benign Het
Grm2 T C 9: 106,524,994 (GRCm39) I574V probably benign Het
Gtf3c5 T C 2: 28,457,787 (GRCm39) D468G probably benign Het
Hectd3 A T 4: 116,856,898 (GRCm39) M482L probably benign Het
Ier5 G T 1: 154,974,599 (GRCm39) P193H possibly damaging Het
Inpp4a A G 1: 37,435,211 (GRCm39) N827S probably damaging Het
Kif13a A G 13: 46,922,652 (GRCm39) L387P probably damaging Het
Map3k1 G C 13: 111,889,016 (GRCm39) H1314D possibly damaging Het
Mbl2 G A 19: 30,211,412 (GRCm39) C11Y possibly damaging Het
Msr1 A G 8: 40,084,381 (GRCm39) L58P probably damaging Het
Mtmr10 T A 7: 63,986,512 (GRCm39) F530Y possibly damaging Het
Myo7b A G 18: 32,116,610 (GRCm39) L999P probably damaging Het
Myoz3 T C 18: 60,723,296 (GRCm39) E8G probably benign Het
Naip6 C A 13: 100,435,495 (GRCm39) M1009I probably benign Het
Nav2 T A 7: 49,102,411 (GRCm39) M342K probably damaging Het
Ndufaf6 T C 4: 11,070,228 (GRCm39) H131R probably benign Het
Nlrp4a T C 7: 26,148,849 (GRCm39) L152P probably damaging Het
Or9s23 A G 1: 92,501,379 (GRCm39) N162S probably benign Het
Pan3 T C 5: 147,387,463 (GRCm39) I144T possibly damaging Het
Prkdc A T 16: 15,552,786 (GRCm39) Q2074L probably benign Het
Pthlh G A 6: 147,158,510 (GRCm39) T150I probably benign Het
Ptprq A T 10: 107,541,414 (GRCm39) Y371N probably damaging Het
Rfwd3 A G 8: 112,009,975 (GRCm39) S377P probably damaging Het
Rpl31-ps17 C T 12: 54,748,397 (GRCm39) noncoding transcript Het
Sap130 T C 18: 31,810,532 (GRCm39) probably null Het
Sap25 T G 5: 137,640,891 (GRCm39) M229R possibly damaging Het
Scaper A T 9: 55,766,321 (GRCm39) V479E probably null Het
Scn3a T A 2: 65,337,550 (GRCm39) D649V probably damaging Het
Slco1a7 A T 6: 141,673,319 (GRCm39) Y406* probably null Het
Smc1b A G 15: 85,006,052 (GRCm39) probably benign Het
Sowahb T C 5: 93,192,284 (GRCm39) E145G possibly damaging Het
Stxbp5 T A 10: 9,711,590 (GRCm39) I277F possibly damaging Het
Tanc1 T C 2: 59,674,177 (GRCm39) S1754P possibly damaging Het
Tanc2 A G 11: 105,801,135 (GRCm39) D1117G probably benign Het
Tbc1d31 A G 15: 57,815,137 (GRCm39) M605V possibly damaging Het
Tekt3 A T 11: 62,985,514 (GRCm39) D440V possibly damaging Het
Tmem67 C T 4: 12,063,730 (GRCm39) W477* probably null Het
Tra2a T C 6: 49,227,861 (GRCm39) probably benign Het
Trappc12 A G 12: 28,797,380 (GRCm39) F51L possibly damaging Het
Trrap C A 5: 144,758,665 (GRCm39) P2183Q probably benign Het
Ubn2 T A 6: 38,447,076 (GRCm39) probably null Het
Unc5d A T 8: 29,184,568 (GRCm39) V644E probably damaging Het
Xpo4 A G 14: 57,827,547 (GRCm39) L883P probably damaging Het
Zbbx T G 3: 74,959,721 (GRCm39) D616A possibly damaging Het
Zfp943 T A 17: 22,211,804 (GRCm39) C297S probably damaging Het
Other mutations in Aldh2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01813:Aldh2 APN 5 121,710,136 (GRCm39) missense probably benign 0.00
IGL02145:Aldh2 APN 5 121,706,056 (GRCm39) makesense probably null
IGL02352:Aldh2 APN 5 121,713,960 (GRCm39) missense probably null 1.00
IGL02359:Aldh2 APN 5 121,713,960 (GRCm39) missense probably null 1.00
IGL02473:Aldh2 APN 5 121,710,141 (GRCm39) missense probably damaging 1.00
IGL02818:Aldh2 APN 5 121,713,188 (GRCm39) missense probably benign
IGL03182:Aldh2 APN 5 121,718,787 (GRCm39) unclassified probably benign
IGL03324:Aldh2 APN 5 121,713,188 (GRCm39) missense probably benign
Flushed UTSW 5 121,710,879 (GRCm39) nonsense probably null
R0595:Aldh2 UTSW 5 121,711,564 (GRCm39) missense probably damaging 0.97
R0595:Aldh2 UTSW 5 121,711,563 (GRCm39) missense probably damaging 0.99
R1697:Aldh2 UTSW 5 121,716,404 (GRCm39) critical splice donor site probably null
R1992:Aldh2 UTSW 5 121,714,026 (GRCm39) missense possibly damaging 0.93
R4786:Aldh2 UTSW 5 121,710,887 (GRCm39) missense probably benign 0.21
R4793:Aldh2 UTSW 5 121,707,042 (GRCm39) missense probably damaging 0.99
R5408:Aldh2 UTSW 5 121,708,620 (GRCm39) intron probably benign
R5934:Aldh2 UTSW 5 121,717,678 (GRCm39) missense probably benign
R6266:Aldh2 UTSW 5 121,706,997 (GRCm39) missense probably damaging 0.97
R6294:Aldh2 UTSW 5 121,710,879 (GRCm39) nonsense probably null
R6792:Aldh2 UTSW 5 121,718,712 (GRCm39) missense probably damaging 0.98
R7659:Aldh2 UTSW 5 121,707,023 (GRCm39) missense probably damaging 1.00
R9070:Aldh2 UTSW 5 121,707,032 (GRCm39) missense probably damaging 1.00
R9241:Aldh2 UTSW 5 121,710,220 (GRCm39) missense probably benign 0.00
X0009:Aldh2 UTSW 5 121,710,837 (GRCm39) missense possibly damaging 0.94
X0027:Aldh2 UTSW 5 121,731,525 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- CAGGTTTGGTGGCCATTCTC -3'
(R):5'- AGTTAACATCTCCTCGTGTCAC -3'

Sequencing Primer
(F):5'- CCTTCCATGGTCTATGAAGAATAAG -3'
(R):5'- TGTGGAGCAGGCCCACTTTG -3'
Posted On 2014-10-02