Incidental Mutation 'IGL03182:Aldh2'
ID412312
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aldh2
Ensembl Gene ENSMUSG00000029455
Gene Namealdehyde dehydrogenase 2, mitochondrial
SynonymsAhd5, Ahd-5
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03182
Quality Score
Status
Chromosome5
Chromosomal Location121566027-121593824 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to G at 121580724 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143261 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031411] [ENSMUST00000129753] [ENSMUST00000152945] [ENSMUST00000199369]
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 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 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
Coding Region Coverage
Validation Efficiency
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl3 A T 6: 34,803,500 K469N probably damaging Het
Ankfy1 T C 11: 72,728,754 probably benign Het
Ankhd1 C T 18: 36,578,774 T209I probably benign Het
Aox3 G A 1: 58,165,887 V754I probably benign Het
Arfgef3 C T 10: 18,600,544 R1509H probably damaging Het
AU019823 T C 9: 50,612,398 N50S possibly damaging Het
Ccdc157 A G 11: 4,151,832 S30P probably damaging Het
Cept1 T A 3: 106,504,550 E369D probably damaging Het
Clcnka T C 4: 141,394,487 Y236C probably damaging Het
Ddx42 A T 11: 106,247,527 L717F probably benign Het
Dnah11 A T 12: 118,030,291 I2340N probably damaging Het
Dsel T C 1: 111,860,138 E889G probably damaging Het
Fasn T C 11: 120,812,726 Y1560C probably damaging Het
Fermt2 A T 14: 45,461,768 M623K possibly damaging Het
Gm21970 T A 16: 91,393,838 S110T possibly damaging Het
Gm826 T A 2: 160,327,115 R91S unknown Het
Lrrn3 A G 12: 41,454,021 L99S probably damaging Het
Megf8 T A 7: 25,347,348 M1552K possibly damaging Het
Mgll G T 6: 88,823,191 V191F probably damaging Het
Nol8 C A 13: 49,664,081 H778N probably damaging Het
Olfr1090 A T 2: 86,754,022 S239T probably damaging Het
Olfr1471 A C 19: 13,445,443 T144P possibly damaging Het
Olfr385 T A 11: 73,589,442 T99S probably benign Het
Olfr948 A T 9: 39,318,981 M211K probably benign Het
Pfkfb3 A T 2: 11,501,663 I13N probably damaging Het
Pim1 T A 17: 29,491,766 D114E possibly damaging Het
Pkd1 T C 17: 24,573,818 L1493P probably damaging Het
Plb1 A T 5: 32,344,915 probably benign Het
Plch1 A T 3: 63,702,594 Y872* probably null Het
Rictor A G 15: 6,789,598 D1434G probably benign Het
Rptor G A 11: 119,725,145 G162R probably damaging Het
Serping1 T C 2: 84,765,818 D424G probably damaging Het
Slit2 A G 5: 48,220,053 I475V possibly damaging Het
Snx31 G T 15: 36,525,687 Q289K probably benign Het
Tbc1d13 G A 2: 30,147,367 A254T probably damaging Het
Tek T C 4: 94,851,765 I750T probably damaging Het
Tet2 A T 3: 133,471,398 L1296* probably null Het
Tmem145 T A 7: 25,314,879 F459I probably damaging Het
Uba5 A T 9: 104,054,129 V247D possibly damaging Het
Vmn1r83 T C 7: 12,321,690 M147V probably benign Het
Vwde T C 6: 13,187,139 D783G probably damaging Het
Zfp609 A G 9: 65,701,005 S1198P probably benign Het
Other mutations in Aldh2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01813:Aldh2 APN 5 121572073 missense probably benign 0.00
IGL02145:Aldh2 APN 5 121567993 makesense probably null
IGL02352:Aldh2 APN 5 121575897 missense probably null 1.00
IGL02359:Aldh2 APN 5 121575897 missense probably null 1.00
IGL02473:Aldh2 APN 5 121572078 missense probably damaging 1.00
IGL02818:Aldh2 APN 5 121575125 missense probably benign
IGL03324:Aldh2 APN 5 121575125 missense probably benign
Flushed UTSW 5 121572816 nonsense probably null
R0595:Aldh2 UTSW 5 121573500 missense probably damaging 0.99
R0595:Aldh2 UTSW 5 121573501 missense probably damaging 0.97
R1697:Aldh2 UTSW 5 121578341 critical splice donor site probably null
R1992:Aldh2 UTSW 5 121575963 missense possibly damaging 0.93
R2174:Aldh2 UTSW 5 121572668 intron probably benign
R4786:Aldh2 UTSW 5 121572824 missense probably benign 0.21
R4793:Aldh2 UTSW 5 121568979 missense probably damaging 0.99
R5408:Aldh2 UTSW 5 121570557 intron probably benign
R5934:Aldh2 UTSW 5 121579615 missense probably benign
R6266:Aldh2 UTSW 5 121568934 missense probably damaging 0.97
R6294:Aldh2 UTSW 5 121572816 nonsense probably null
R6792:Aldh2 UTSW 5 121580649 missense probably damaging 0.98
R7659:Aldh2 UTSW 5 121568960 missense probably damaging 1.00
X0009:Aldh2 UTSW 5 121572774 missense possibly damaging 0.94
X0027:Aldh2 UTSW 5 121593462 unclassified probably benign
Posted On2016-08-02