Incidental Mutation 'R7262:Adh5'
ID 564678
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 045353-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7262 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 138148854-138161260 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 138151133 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 32 (A32D)
Ref Sequence ENSEMBL: ENSMUSP00000005964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005964] [ENSMUST00000160201] [ENSMUST00000198126]
AlphaFold P28474
Predicted Effect possibly damaging
Transcript: ENSMUST00000005964
AA Change: A32D

PolyPhen 2 Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000005964
Gene: ENSMUSG00000028138
AA Change: A32D

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 damaging
Transcript: ENSMUST00000198126
AA Change: A32D

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000143676
Gene: ENSMUSG00000028138
AA Change: A32D

DomainStartEndE-ValueType
PDB:1MC5|B 1 38 7e-18 PDB
SCOP:d1heta1 2 43 3e-13 SMART
Meta Mutation Damage Score 0.2178 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (53/53)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 A G 16: 30,946,137 (GRCm39) probably null Het
Ap1m2 A G 9: 21,213,762 (GRCm39) I295T possibly damaging Het
B230104I21Rik T C 4: 154,434,091 (GRCm39) S92P unknown Het
Carnmt1 A T 19: 18,655,228 (GRCm39) N127I probably benign Het
Ccdc42 A G 11: 68,485,399 (GRCm39) T106A probably damaging Het
Cdcp1 T C 9: 123,002,680 (GRCm39) E797G probably damaging Het
Cep112 T A 11: 108,555,467 (GRCm39) V821D probably damaging Het
Cpvl A T 6: 53,909,500 (GRCm39) V212D probably damaging Het
Cttnbp2nl A T 3: 104,940,062 (GRCm39) N2K probably damaging Het
Cyp2c69 T C 19: 39,875,176 (GRCm39) probably benign Het
Cyp2u1 T C 3: 131,091,605 (GRCm39) D305G probably damaging Het
Dab2ip A G 2: 35,512,298 (GRCm39) probably null Het
Ddx55 T C 5: 124,704,919 (GRCm39) L396P probably benign Het
Dhx34 G A 7: 15,937,623 (GRCm39) A786V probably benign Het
Efcab3 G A 11: 104,745,432 (GRCm39) probably null Het
Ehbp1l1 A T 19: 5,768,474 (GRCm39) L943* probably null Het
Epm2aip1 A G 9: 111,101,728 (GRCm39) T234A probably benign Het
Flot2 T C 11: 77,948,175 (GRCm39) M145T probably damaging Het
Fn3k T C 11: 121,339,741 (GRCm39) F168L probably damaging Het
Gmfb A T 14: 47,052,386 (GRCm39) C87S probably damaging Het
H2-M3 T C 17: 37,582,084 (GRCm39) F180S probably damaging Het
Havcr2 C T 11: 46,360,388 (GRCm39) T205I probably benign Het
Hdac3 C T 18: 38,078,616 (GRCm39) C123Y probably damaging Het
Itpk1 T C 12: 102,641,712 (GRCm39) E37G possibly damaging Het
Jmjd7 A G 2: 119,862,467 (GRCm39) H283R probably benign Het
Kif26b T C 1: 178,745,219 (GRCm39) S1772P possibly damaging Het
Klhl6 T C 16: 19,801,546 (GRCm39) T70A probably damaging Het
Kntc1 C A 5: 123,925,036 (GRCm39) D1116E probably benign Het
Lama4 T A 10: 38,970,930 (GRCm39) H1498Q probably damaging Het
Lamp1 A T 8: 13,217,296 (GRCm39) T102S probably benign Het
Lrp8 A G 4: 107,704,661 (GRCm39) N168D probably benign Het
Ltbp1 G T 17: 75,671,363 (GRCm39) D1515Y probably damaging Het
Obscn A G 11: 59,006,715 (GRCm39) V1149A probably damaging Het
Or10q1 A T 19: 13,726,535 (GRCm39) T22S probably benign Het
Or4f6 A G 2: 111,838,902 (GRCm39) S210P probably damaging Het
Or52ad1 T C 7: 102,995,764 (GRCm39) R124G probably damaging Het
Pak4 C A 7: 28,264,625 (GRCm39) M92I possibly damaging Het
Pam T C 1: 97,782,448 (GRCm39) K157R Het
Pcdh9 A T 14: 93,253,141 (GRCm39) V1174E probably benign Het
Phf8-ps G A 17: 33,285,971 (GRCm39) T277I probably damaging Het
Ppp1r3a T C 6: 14,719,069 (GRCm39) D615G probably benign Het
Senp1 A T 15: 97,964,379 (GRCm39) D278E probably benign Het
Serpinc1 A G 1: 160,817,229 (GRCm39) N108D probably damaging Het
Srl C A 16: 4,315,415 (GRCm39) A76S probably damaging Het
Tbc1d16 C A 11: 119,045,921 (GRCm39) V509L probably benign Het
Tbc1d24 A G 17: 24,426,820 (GRCm39) F357S probably damaging Het
Tcaf3 A G 6: 42,570,735 (GRCm39) L339P probably damaging Het
Tmem232 A T 17: 65,807,112 (GRCm39) I27N probably benign Het
Ubr2 T C 17: 47,311,665 (GRCm39) D62G probably damaging Het
Vcan T G 13: 89,853,280 (GRCm39) D560A possibly damaging Het
Vmn2r80 T A 10: 79,005,579 (GRCm39) N405K probably damaging Het
Wdhd1 A T 14: 47,489,430 (GRCm39) I701K 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
R7452:Adh5 UTSW 3 138,160,506 (GRCm39) missense probably benign 0.11
R8525:Adh5 UTSW 3 138,157,095 (GRCm39) missense probably damaging 0.99
R9346:Adh5 UTSW 3 138,157,203 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GGCACACTAACATGAGCAGC -3'
(R):5'- ATGACCGTTCTATTGTGGCAATC -3'

Sequencing Primer
(F):5'- GAGCAGCATCATTATCTTGGTTGCC -3'
(R):5'- TGGCAATCCACTAATCCGTAGG -3'
Posted On 2019-06-26