Incidental Mutation 'R6266:Aldh2'
ID 506996
Institutional Source Beutler Lab
Gene Symbol Aldh2
Ensembl Gene ENSMUSG00000029455
Gene Name aldehyde dehydrogenase 2, mitochondrial
Synonyms Ahd5, Ahd-5
MMRRC Submission 044378-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6266 (G1)
Quality Score 214.009
Status Not validated
Chromosome 5
Chromosomal Location 121704090-121731887 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 121706997 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 217 (V217L)
Ref Sequence ENSEMBL: ENSMUSP00000143261 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031411] [ENSMUST00000129753] [ENSMUST00000199369]
AlphaFold P47738
Predicted Effect possibly damaging
Transcript: ENSMUST00000031411
AA Change: V507L

PolyPhen 2 Score 0.849 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000031411
Gene: ENSMUSG00000029455
AA Change: V507L

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 damaging
Transcript: ENSMUST00000199369
AA Change: V217L

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000143261
Gene: ENSMUSG00000029455
AA Change: V217L

DomainStartEndE-ValueType
Pfam:Aldedh 1 129 4.2e-43 PFAM
Pfam:Aldedh 125 220 3.6e-36 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000200541
AA Change: V183L
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 98.8%
  • 20x: 96.7%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c12 T C 13: 4,320,206 (GRCm39) T295A probably benign Het
Arap3 G A 18: 38,123,844 (GRCm39) R392C probably damaging Het
Aurkaip1 T G 4: 155,916,977 (GRCm39) L75R probably damaging Het
Blm C A 7: 80,149,688 (GRCm39) K640N probably benign Het
Brap A T 5: 121,823,328 (GRCm39) T487S probably benign Het
Ccser2 G A 14: 36,601,632 (GRCm39) P276L probably damaging Het
Cdc42bpg A G 19: 6,361,503 (GRCm39) E343G probably damaging Het
Cecr2 A G 6: 120,738,647 (GRCm39) S1097G probably benign Het
D7Ertd443e A T 7: 133,951,514 (GRCm39) V53D probably damaging Het
Ddx3y G A Y: 1,266,635 (GRCm39) T274I probably damaging Homo
Dnah5 T A 15: 28,335,773 (GRCm39) F2246L possibly damaging Het
Dock3 T A 9: 106,841,952 (GRCm39) H959L probably damaging Het
Dpy19l1 A G 9: 24,350,442 (GRCm39) S406P probably damaging Het
Efcab8 T C 2: 153,625,688 (GRCm39) L116P probably damaging Het
Efnb2 T C 8: 8,710,524 (GRCm39) I31V probably benign Het
Fbxl12 A T 9: 20,549,911 (GRCm39) L271Q probably damaging Het
Fmn1 T A 2: 113,426,683 (GRCm39) N1133K probably damaging Het
Frmpd2 T C 14: 33,287,864 (GRCm39) S1219P probably benign Het
Gm7298 A T 6: 121,759,663 (GRCm39) R1187S probably damaging Het
H6pd T C 4: 150,080,414 (GRCm39) I136V probably benign Het
Hyal2 A G 9: 107,447,914 (GRCm39) N189S probably benign Het
Jmjd1c C T 10: 67,085,439 (GRCm39) P2410S probably damaging Het
Larp1 A G 11: 57,933,089 (GRCm39) D231G probably damaging Het
Lilra5 T A 7: 4,244,927 (GRCm39) S233T possibly damaging Het
Lrrc43 T C 5: 123,641,340 (GRCm39) F508S probably damaging Het
Marchf4 T C 1: 72,491,647 (GRCm39) Y208C probably damaging Het
Mtarc2 T C 1: 184,566,140 (GRCm39) R85G probably damaging Het
Nr1h2 A T 7: 44,201,476 (GRCm39) C45* probably null Het
Or10ag2 T A 2: 87,249,350 (GRCm39) S319R probably benign Het
Or2n1e A G 17: 38,586,039 (GRCm39) I126V probably benign Het
Ppp2r5d G T 17: 46,996,629 (GRCm39) probably null Het
Prpf40a A T 2: 53,046,639 (GRCm39) S324T probably benign Het
Psmb7 T C 2: 38,530,199 (GRCm39) D94G probably damaging Het
Psmd11 A G 11: 80,336,767 (GRCm39) T140A probably benign Het
Pygm T C 19: 6,448,169 (GRCm39) I737T probably damaging Het
Rbp3 G A 14: 33,676,418 (GRCm39) R122H probably benign Het
Relch T G 1: 105,659,007 (GRCm39) probably null Het
Rrp8 T C 7: 105,385,596 (GRCm39) E3G probably damaging Het
Sacm1l T C 9: 123,371,485 (GRCm39) S37P probably damaging Het
Slc12a3 A G 8: 95,085,099 (GRCm39) R939G possibly damaging Het
Slc20a1 T C 2: 129,051,814 (GRCm39) S608P possibly damaging Het
Sntg1 T C 1: 8,624,953 (GRCm39) Q281R possibly damaging Het
Spata31d1e C T 13: 59,890,126 (GRCm39) V147I probably benign Het
Tefm A G 11: 80,028,814 (GRCm39) L194P probably damaging Het
Terf2ip T A 8: 112,738,547 (GRCm39) V145E probably damaging Het
Tmem231 T A 8: 112,641,897 (GRCm39) E219V probably null Het
Tmx3 T A 18: 90,555,334 (GRCm39) probably null Het
Tns3 G A 11: 8,442,987 (GRCm39) P459S probably damaging Het
Trav13d-1 T A 14: 53,089,220 (GRCm39) S76R probably benign Het
Trp63 A G 16: 25,681,210 (GRCm39) N254S probably damaging Het
Tsen34 A G 7: 3,696,984 (GRCm39) probably benign Het
Unc13d A G 11: 115,959,064 (GRCm39) V701A probably damaging Het
Usp36 A G 11: 118,159,411 (GRCm39) S513P probably damaging Het
Uspl1 T A 5: 149,141,176 (GRCm39) S392T probably damaging Het
Vmn2r102 T A 17: 19,899,007 (GRCm39) C450S probably benign Het
Zfp128 T C 7: 12,624,897 (GRCm39) Y422H possibly damaging Het
Zkscan7 C T 9: 122,724,299 (GRCm39) Q423* probably null 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
R5408:Aldh2 UTSW 5 121,708,620 (GRCm39) intron probably benign
R5934:Aldh2 UTSW 5 121,717,678 (GRCm39) missense probably benign
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'- CTGACCAACTCTGTGGCAAG -3'
(R):5'- TCTGCACAGACAAGGATGAC -3'

Sequencing Primer
(F):5'- AACTCTGTGGCAAGTGACC -3'
(R):5'- GCCTCCATTTTCCATATAAGGTGGTG -3'
Posted On 2018-03-15