Incidental Mutation 'IGL02145:Aldh2'
ID 281706
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aldh2
Ensembl Gene ENSMUSG00000029455
Gene Name aldehyde dehydrogenase 2, mitochondrial
Synonyms Ahd5, Ahd-5
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02145
Quality Score
Status
Chromosome 5
Chromosomal Location 121704090-121731887 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) A to G at 121706056 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Glutamine at position 196 (*196Q)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031411] [ENSMUST00000129753] [ENSMUST00000199369]
AlphaFold P47738
Predicted Effect probably null
Transcript: ENSMUST00000031411
AA Change: *520Q
SMART Domains Protein: ENSMUSP00000031411
Gene: ENSMUSG00000029455
AA Change: *520Q

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 null
Transcript: ENSMUST00000199369
AA Change: *230Q
SMART Domains Protein: ENSMUSP00000143261
Gene: ENSMUSG00000029455
AA Change: *230Q

DomainStartEndE-ValueType
Pfam:Aldedh 1 129 4.2e-43 PFAM
Pfam:Aldedh 125 220 3.6e-36 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000200541
AA Change: *196Q
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agt A G 8: 125,291,187 (GRCm39) L40P probably damaging Het
Ahnak T C 19: 8,980,219 (GRCm39) I501T probably benign Het
Ankrd65 A G 4: 155,875,848 (GRCm39) D23G possibly damaging Het
Anln A T 9: 22,250,292 (GRCm39) probably null Het
Armc3 C T 2: 19,301,671 (GRCm39) S663L possibly damaging Het
Armc3 G A 2: 19,290,948 (GRCm39) probably null Het
Cul5 A T 9: 53,546,375 (GRCm39) probably benign Het
Cyba T C 8: 123,151,796 (GRCm39) I134V probably damaging Het
Cybb T A X: 9,323,257 (GRCm39) Q93H probably damaging Het
Cyp4f37 G T 17: 32,849,009 (GRCm39) K292N probably benign Het
Dmxl2 T C 9: 54,281,981 (GRCm39) I2850V probably benign Het
Ep300 T C 15: 81,485,367 (GRCm39) I118T unknown Het
Ercc6l G T X: 101,189,148 (GRCm39) P454T probably benign Het
Grxcr1 A G 5: 68,267,821 (GRCm39) E190G probably damaging Het
Heatr3 C T 8: 88,871,227 (GRCm39) R194C probably benign Het
Hspa12b C T 2: 130,985,655 (GRCm39) probably benign Het
Inpp5d T C 1: 87,642,777 (GRCm39) V644A probably damaging Het
Kif26a G A 12: 112,143,409 (GRCm39) R1221H probably benign Het
Klra8 T C 6: 130,102,199 (GRCm39) N79D probably benign Het
Kntc1 T C 5: 123,900,661 (GRCm39) I253T possibly damaging Het
Lamp5 T C 2: 135,901,509 (GRCm39) V111A possibly damaging Het
Lmo7 T C 14: 102,139,659 (GRCm39) S859P probably benign Het
Mgarp T C 3: 51,296,453 (GRCm39) Q205R possibly damaging Het
Morf4l1 A G 9: 89,975,848 (GRCm39) Y315H probably benign Het
Naip6 A T 13: 100,433,486 (GRCm39) V1117E possibly damaging Het
Nipal1 A G 5: 72,824,274 (GRCm39) D206G probably damaging Het
Notch3 A G 17: 32,373,715 (GRCm39) S498P probably benign Het
Npepps A G 11: 97,109,328 (GRCm39) probably null Het
Or14c46 C A 7: 85,918,466 (GRCm39) C177F probably damaging Het
Or2ak6 T C 11: 58,592,886 (GRCm39) Y120H probably damaging Het
Phlpp1 A G 1: 106,317,613 (GRCm39) H1278R probably damaging Het
Pprc1 C A 19: 46,053,329 (GRCm39) probably benign Het
Rab8b A T 9: 66,755,000 (GRCm39) probably benign Het
Ripor2 T A 13: 24,901,554 (GRCm39) I875N probably damaging Het
Samd9l T C 6: 3,374,105 (GRCm39) E1052G probably benign Het
Slit3 A T 11: 35,520,569 (GRCm39) I569F probably damaging Het
Spata2l C T 8: 123,960,770 (GRCm39) G173D possibly damaging Het
Stc2 T G 11: 31,317,875 (GRCm39) probably benign Het
Tm6sf1 C A 7: 81,513,000 (GRCm39) Y65* probably null Het
Tspan15 A G 10: 62,029,751 (GRCm39) probably benign Het
Vmn2r14 A T 5: 109,368,454 (GRCm39) Y179* probably null Het
Washc5 C A 15: 59,241,060 (GRCm39) V92L probably benign Het
Wiz A G 17: 32,575,893 (GRCm39) S838P probably benign Het
Zp2 T A 7: 119,739,074 (GRCm39) probably null Het
Other mutations in Aldh2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01813:Aldh2 APN 5 121,710,136 (GRCm39) missense probably benign 0.00
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
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
Posted On 2015-04-16