Incidental Mutation 'R8525:Adh5'
ID 658755
Institutional Source Beutler Lab
Gene Symbol Adh5
Ensembl Gene ENSMUSG00000028138
Gene Name alcohol dehydrogenase 5 (class III), chi polypeptide
Synonyms Adh3, Adh-5, GSNOR, S-nitrosoglutathione reductase
MMRRC Submission 067950-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8525 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 138148854-138161260 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 138157095 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 219 (I219F)
Ref Sequence ENSEMBL: ENSMUSP00000005964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005964] [ENSMUST00000160201] [ENSMUST00000198126]
AlphaFold P28474
Predicted Effect probably damaging
Transcript: ENSMUST00000005964
AA Change: I219F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000005964
Gene: ENSMUSG00000028138
AA Change: I219F

DomainStartEndE-ValueType
Pfam:ADH_N 32 160 6.5e-26 PFAM
Pfam:ADH_zinc_N 202 336 2.9e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160201
SMART Domains Protein: ENSMUSP00000142541
Gene: ENSMUSG00000028138

DomainStartEndE-ValueType
low complexity region 11 36 N/A INTRINSIC
low complexity region 39 57 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000198126
SMART Domains Protein: ENSMUSP00000143676
Gene: ENSMUSG00000028138

DomainStartEndE-ValueType
PDB:1MC5|B 1 38 7e-18 PDB
SCOP:d1heta1 2 43 3e-13 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (49/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. The encoded protein forms a homodimer. It has virtually no activity for ethanol oxidation, but exhibits high activity for oxidation of long-chain primary alcohols and for oxidation of S-hydroxymethyl-glutathione, a spontaneous adduct between formaldehyde and glutathione. This enzyme is an important component of cellular metabolism for the elimination of formaldehyde, a potent irritant and sensitizing agent that causes lacrymation, rhinitis, pharyngitis, and contact dermatitis. The human genome contains several non-transcribed pseudogenes related to this gene. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous null mutants are viable with increased S-nitrosothiols in RBCs, increased susceptibility to various toxins, and abnormal blood pressure regulation under anesthesia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik A T 7: 27,255,936 (GRCm39) N8Y possibly damaging Het
4932414N04Rik A T 2: 68,559,378 (GRCm39) D197V possibly damaging Het
Aar2 G A 2: 156,397,837 (GRCm39) R283Q probably benign Het
Acsf2 T A 11: 94,463,446 (GRCm39) I119F probably benign Het
Adamtsl1 C T 4: 86,195,247 (GRCm39) P572S probably damaging Het
Arhgap23 T A 11: 97,380,910 (GRCm39) F1098I probably damaging Het
Bicc1 G T 10: 70,779,365 (GRCm39) H674Q possibly damaging Het
Ccdc39 C T 3: 33,868,853 (GRCm39) R786H probably benign Het
Ccr1l1 A G 9: 123,777,589 (GRCm39) I286T possibly damaging Het
Ccr9 T A 9: 123,608,732 (GRCm39) M138K probably benign Het
Dbh T C 2: 27,055,798 (GRCm39) F91L probably benign Het
Dip2a T A 10: 76,110,115 (GRCm39) probably null Het
Eif3j1 A G 2: 121,880,991 (GRCm39) I148V probably damaging Het
Etl4 A G 2: 20,534,892 (GRCm39) R116G probably damaging Het
Exoc6 C A 19: 37,597,440 (GRCm39) Q614K possibly damaging Het
Gabpb1 A G 2: 126,494,194 (GRCm39) S144P possibly damaging Het
Galnt13 G A 2: 54,950,488 (GRCm39) V390M possibly damaging Het
Gimap5 T C 6: 48,729,501 (GRCm39) S24P probably benign Het
Gm4924 T A 10: 82,213,701 (GRCm39) probably benign Het
Gucy1a2 T A 9: 3,865,365 (GRCm39) I613K probably damaging Het
Hsp90ab1 T A 17: 45,880,726 (GRCm39) E115D probably benign Het
Hspg2 T C 4: 137,266,759 (GRCm39) V1949A probably damaging Het
Ice2 A G 9: 69,318,698 (GRCm39) Y294C probably damaging Het
Il17ra T G 6: 120,451,298 (GRCm39) Y157* probably null Het
Ipo13 T C 4: 117,762,126 (GRCm39) E416G probably damaging Het
Large1 C T 8: 73,564,120 (GRCm39) V549M probably damaging Het
Mmp17 A G 5: 129,679,271 (GRCm39) D390G probably damaging Het
Mrps10 T G 17: 47,683,371 (GRCm39) I102R probably damaging Het
Mycbp2 A G 14: 103,450,155 (GRCm39) L1712P probably damaging Het
Nipal2 A G 15: 34,584,815 (GRCm39) M251T probably damaging Het
Nup160 G A 2: 90,548,440 (GRCm39) probably null Het
Or5ac19 A T 16: 59,089,571 (GRCm39) V153D probably benign Het
Or6f2 T C 7: 139,756,255 (GRCm39) I74T probably damaging Het
Pdcd11 G A 19: 47,081,337 (GRCm39) D34N possibly damaging Het
Pigb G T 9: 72,924,809 (GRCm39) P450Q probably damaging Het
Radil A C 5: 142,474,256 (GRCm39) L730R probably damaging Het
Rsbn1 G T 3: 103,821,538 (GRCm39) probably benign Het
Sec24b T C 3: 129,805,467 (GRCm39) D264G probably damaging Het
Shank3 C G 15: 89,431,973 (GRCm39) S906C probably damaging Het
Slc1a3 A G 15: 8,672,459 (GRCm39) V340A possibly damaging Het
Slc1a3 A T 15: 8,680,423 (GRCm39) I145N possibly damaging Het
Slc35f4 A T 14: 49,541,681 (GRCm39) S208T possibly damaging Het
Spopfm1 A G 3: 94,173,862 (GRCm39) N290S probably benign Het
Tmem132b A G 5: 125,715,380 (GRCm39) D363G probably benign Het
Tox3 T G 8: 91,001,309 (GRCm39) N34T probably damaging Het
Vmn1r231 T A 17: 21,110,001 (GRCm39) I305L probably benign Het
Vps18 A G 2: 119,120,711 (GRCm39) I57V possibly damaging Het
Zfhx4 T G 3: 5,464,603 (GRCm39) L1587R probably damaging Het
Zfp112 A G 7: 23,825,322 (GRCm39) N430S probably benign Het
Other mutations in Adh5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00796:Adh5 APN 3 138,156,742 (GRCm39) missense probably benign 0.01
IGL02185:Adh5 APN 3 138,156,815 (GRCm39) missense probably benign 0.00
IGL02711:Adh5 APN 3 138,160,434 (GRCm39) missense probably damaging 1.00
R0081:Adh5 UTSW 3 138,157,174 (GRCm39) missense probably benign
R0846:Adh5 UTSW 3 138,156,835 (GRCm39) missense probably damaging 1.00
R1860:Adh5 UTSW 3 138,159,539 (GRCm39) missense probably benign 0.00
R2113:Adh5 UTSW 3 138,157,245 (GRCm39) missense probably benign
R3854:Adh5 UTSW 3 138,156,776 (GRCm39) missense probably benign 0.08
R4597:Adh5 UTSW 3 138,151,118 (GRCm39) missense probably damaging 1.00
R6054:Adh5 UTSW 3 138,151,136 (GRCm39) missense possibly damaging 0.66
R6112:Adh5 UTSW 3 138,157,029 (GRCm39) missense probably damaging 0.97
R7069:Adh5 UTSW 3 138,156,812 (GRCm39) nonsense probably null
R7209:Adh5 UTSW 3 138,148,909 (GRCm39) unclassified probably benign
R7262:Adh5 UTSW 3 138,151,133 (GRCm39) missense possibly damaging 0.73
R7452:Adh5 UTSW 3 138,160,506 (GRCm39) missense probably benign 0.11
R9346:Adh5 UTSW 3 138,157,203 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGTGAACACTGCCAAGGTAAG -3'
(R):5'- ATGACCTTCACGTTGCCAATG -3'

Sequencing Primer
(F):5'- CCTCATTCAGTTCAGTGAGACATTG -3'
(R):5'- TGCCAATGCACTCAAAGGAG -3'
Posted On 2021-01-18