Incidental Mutation 'R5408:Aldh2'
ID 426380
Institutional Source Beutler Lab
Gene Symbol Aldh2
Ensembl Gene ENSMUSG00000029455
Gene Name aldehyde dehydrogenase 2, mitochondrial
Synonyms Ahd5, Ahd-5
MMRRC Submission 042977-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5408 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 121704090-121731887 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) C to T at 121708620 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000031411] [ENSMUST00000129753] [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 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: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 99% (74/75)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430110L20Rik A G 1: 181,054,979 (GRCm39) noncoding transcript Het
Actn2 T C 13: 12,285,681 (GRCm39) I837V probably benign Het
Adora1 T A 1: 134,130,901 (GRCm39) T257S probably benign Het
Akap9 T A 5: 4,108,458 (GRCm39) M2954K possibly damaging Het
Akr1c13 G T 13: 4,244,715 (GRCm39) A98S probably benign Het
Ank1 A G 8: 23,572,209 (GRCm39) N48D probably damaging Het
Ash1l A G 3: 88,889,701 (GRCm39) T527A probably damaging Het
Atp13a1 T C 8: 70,249,490 (GRCm39) V251A probably benign Het
Baz1a A T 12: 54,969,835 (GRCm39) D608E probably damaging Het
Bend5 A T 4: 111,311,280 (GRCm39) probably null Het
Blm T G 7: 80,152,370 (GRCm39) T526P probably benign Het
Cacna1a T C 8: 85,276,336 (GRCm39) V559A probably damaging Het
Cacna2d4 A G 6: 119,325,752 (GRCm39) D1042G probably damaging Het
Cadps T C 14: 12,705,759 (GRCm38) H212R possibly damaging Het
Cdh3 T C 8: 107,263,269 (GRCm39) I106T probably damaging Het
Cenps C A 4: 149,214,658 (GRCm39) probably benign Het
Cfap68 T C 9: 50,676,057 (GRCm39) N87S probably damaging Het
Col16a1 A T 4: 129,986,898 (GRCm39) probably benign Het
Dctn6 C T 8: 34,562,056 (GRCm39) V89I possibly damaging Het
Dgkz C A 2: 91,766,168 (GRCm39) G798W possibly damaging Het
Epb41l2 A T 10: 25,343,992 (GRCm39) probably null Het
Fam171a2 T C 11: 102,328,344 (GRCm39) K805R possibly damaging Het
Fam89b G T 19: 5,779,421 (GRCm39) Y45* probably null Het
Fchsd2 A G 7: 100,920,781 (GRCm39) N462S possibly damaging Het
Fyco1 T G 9: 123,658,568 (GRCm39) H536P probably damaging Het
Galnt12 A T 4: 47,104,169 (GRCm39) E142D probably damaging Het
Gspt1 C T 16: 11,071,719 (GRCm39) G48D probably benign Het
H6pd A G 4: 150,067,322 (GRCm39) S355P probably damaging Het
Hectd2 T C 19: 36,532,296 (GRCm39) V38A possibly damaging Het
Jup C T 11: 100,267,607 (GRCm39) R572Q probably damaging Het
Kcng3 T C 17: 83,938,434 (GRCm39) D205G probably benign Het
Kif13b A T 14: 65,017,138 (GRCm39) probably null Het
Mapk3 A G 7: 126,363,007 (GRCm39) D253G probably damaging Het
Methig1 A T 15: 100,281,635 (GRCm39) Y253F possibly damaging Het
Mmp3 T C 9: 7,449,904 (GRCm39) S263P probably damaging Het
Mpo T A 11: 87,691,851 (GRCm39) probably null Het
Nbeal2 C A 9: 110,466,588 (GRCm39) G772W possibly damaging Het
Nr1d1 T A 11: 98,661,087 (GRCm39) H393L probably benign Het
Obscn A G 11: 58,942,437 (GRCm39) V4915A probably damaging Het
Olfml2b T A 1: 170,472,545 (GRCm39) W19R probably damaging Het
Or13p4 T C 4: 118,547,641 (GRCm39) T3A probably benign Het
Or56b1b C T 7: 108,164,376 (GRCm39) A209T probably damaging Het
Padi6 G A 4: 140,454,996 (GRCm39) T647I probably damaging Het
Pcyox1 A G 6: 86,369,280 (GRCm39) L113S probably damaging Het
Pde4dip T A 3: 97,704,052 (GRCm39) T192S probably benign Het
Pip4k2a T C 2: 18,911,119 (GRCm39) H87R probably benign Het
Pkd1l3 C A 8: 110,393,684 (GRCm39) T2004N probably damaging Het
Prex1 CGTTGTTGTTGT CGTTGTTGTTGTTGT 2: 166,417,573 (GRCm39) probably benign Het
Ptprz1 C T 6: 23,002,599 (GRCm39) T1563I probably damaging Het
Reg3b T C 6: 78,350,215 (GRCm39) V165A probably benign Het
Rreb1 A G 13: 38,115,320 (GRCm39) D893G probably benign Het
Sap18 A T 14: 58,039,431 (GRCm39) M78L probably benign Het
Scaper A T 9: 55,493,508 (GRCm39) F1226I probably damaging Het
Scyl3 A T 1: 163,782,245 (GRCm39) probably null Het
Shoc2 A G 19: 53,976,556 (GRCm39) M149V probably benign Het
Slc7a2 G A 8: 41,368,042 (GRCm39) R602K probably damaging Het
Sox30 A G 11: 45,882,694 (GRCm39) I575V possibly damaging Het
Trim14 A T 4: 46,507,134 (GRCm39) C361S possibly damaging Het
Ttn T C 2: 76,731,272 (GRCm39) probably benign Het
Uncx A T 5: 139,530,245 (GRCm39) K108* probably null Het
Usp54 A T 14: 20,600,501 (GRCm39) L1412Q probably damaging Het
Uty A G Y: 1,245,614 (GRCm39) V6A possibly damaging Het
Vmn1r30 C T 6: 58,412,029 (GRCm39) V268I probably benign Het
Wdsub1 T C 2: 59,691,887 (GRCm39) probably benign Het
Wipf3 A G 6: 54,458,896 (GRCm39) I84V probably benign Het
Xcr1 T A 9: 123,685,631 (GRCm39) I44F probably benign Het
Zfp687 T C 3: 94,916,586 (GRCm39) probably benign Het
Zfp729b A T 13: 67,739,563 (GRCm39) S901T probably benign Het
Zhx1 A T 15: 57,915,819 (GRCm39) M809K probably damaging Het
Zswim9 T C 7: 12,994,753 (GRCm39) K468E possibly 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
R2174:Aldh2 UTSW 5 121,710,731 (GRCm39) intron probably benign
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
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'- GCTTCTCTGGACACAGTCAC -3'
(R):5'- CAAGACCATCGAGGAGGTTG -3'

Sequencing Primer
(F):5'- CAGAGGGTACTGATCTCTATGCAGC -3'
(R):5'- CCATCGAGGAGGTTGTGGGG -3'
Posted On 2016-09-01