Incidental Mutation 'R6054:Adh5'
ID 484290
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 044222-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6054 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 138148854-138161260 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 138151136 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 33 (H33R)
Ref Sequence ENSEMBL: ENSMUSP00000143676 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005964] [ENSMUST00000160201] [ENSMUST00000198126]
AlphaFold P28474
Predicted Effect probably benign
Transcript: ENSMUST00000005964
AA Change: H33R

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000005964
Gene: ENSMUSG00000028138
AA Change: H33R

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 noncoding transcript
Transcript: ENSMUST00000160625
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162024
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197643
Predicted Effect possibly damaging
Transcript: ENSMUST00000198126
AA Change: H33R

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000143676
Gene: ENSMUSG00000028138
AA Change: H33R

DomainStartEndE-ValueType
PDB:1MC5|B 1 38 7e-18 PDB
SCOP:d1heta1 2 43 3e-13 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T C 16: 4,653,729 (GRCm39) S93P unknown Het
Adam28 T A 14: 68,879,601 (GRCm39) N149I probably benign Het
Adam4 A C 12: 81,466,828 (GRCm39) F598V probably damaging Het
Apoh A G 11: 108,286,801 (GRCm39) N75S probably damaging Het
Arrdc5 T C 17: 56,601,420 (GRCm39) E235G possibly damaging Het
Atm T C 9: 53,371,173 (GRCm39) D2225G probably damaging Het
Atp6v0a1 C T 11: 100,930,715 (GRCm39) P514L possibly damaging Het
Brd9 T A 13: 74,088,860 (GRCm39) M195K probably damaging Het
Cacna1a T G 8: 85,283,414 (GRCm39) S755A probably damaging Het
Ccdc85c T A 12: 108,241,028 (GRCm39) H122L unknown Het
Ccs A T 19: 4,875,893 (GRCm39) D192E probably benign Het
Cd3e G A 9: 44,913,459 (GRCm39) T92M possibly damaging Het
Celsr2 A G 3: 108,314,279 (GRCm39) F1249L possibly damaging Het
Col16a1 G A 4: 129,955,515 (GRCm39) probably benign Het
Col17a1 A G 19: 47,668,859 (GRCm39) Y122H probably damaging Het
Col28a1 G A 6: 8,083,748 (GRCm39) P570S possibly damaging Het
Dchs2 A T 3: 83,253,543 (GRCm39) I2318L probably benign Het
Dhx35 T A 2: 158,660,219 (GRCm39) Y184N probably benign Het
Dmxl1 T G 18: 49,990,453 (GRCm39) N297K probably benign Het
Dsp G A 13: 38,351,585 (GRCm39) G135S probably benign Het
Efhb C T 17: 53,706,027 (GRCm39) V837I possibly damaging Het
Efs C T 14: 55,158,614 (GRCm39) D15N probably damaging Het
Fbxl19 C T 7: 127,351,681 (GRCm39) T314I probably damaging Het
Gm11595 A T 11: 99,663,474 (GRCm39) C69S unknown Het
Grxcr2 A G 18: 42,119,743 (GRCm39) V199A probably benign Het
Hadha T C 5: 30,328,682 (GRCm39) E468G probably benign Het
Hax1 GTCATCATCATCATCATC GTCATCATCATCATCATCATC 3: 89,905,247 (GRCm39) probably benign Het
Hps1 A T 19: 42,759,217 (GRCm39) V125E probably damaging Het
Hrg A T 16: 22,772,412 (GRCm39) T74S probably benign Het
Idh3a T C 9: 54,493,829 (GRCm39) probably null Het
Leng8 C A 7: 4,148,522 (GRCm39) probably null Het
Maml2 TCAGCAGCAGCAGCAGCAGC TCAGCAGCAGCAGCAGC 9: 13,532,695 (GRCm39) probably benign Het
Mctp2 T C 7: 71,908,851 (GRCm39) H154R probably benign Het
Megf6 A G 4: 154,347,636 (GRCm39) E777G probably benign Het
Miip A G 4: 147,950,135 (GRCm39) S154P probably benign Het
Mprip T C 11: 59,649,251 (GRCm39) V985A probably benign Het
Nmrk2 G A 10: 81,035,468 (GRCm39) R158W probably damaging Het
Nsd2 T C 5: 34,039,505 (GRCm39) S180P probably damaging Het
Oga A G 19: 45,764,571 (GRCm39) S190P probably damaging Het
Opa1 T G 16: 29,433,952 (GRCm39) S596A probably damaging Het
Or1ad1 G A 11: 50,875,631 (GRCm39) M34I probably benign Het
Or51b4 A G 7: 103,531,033 (GRCm39) V139A probably damaging Het
Pcdha2 A G 18: 37,073,857 (GRCm39) E496G probably damaging Het
Pcdhb5 T G 18: 37,454,133 (GRCm39) V171G probably damaging Het
Pramel6 A G 2: 87,339,003 (GRCm39) T68A probably benign Het
Ptprq T C 10: 107,418,219 (GRCm39) Y1719C probably damaging Het
Pzp T C 6: 128,490,727 (GRCm39) N412S probably benign Het
Rb1cc1 G T 1: 6,320,058 (GRCm39) R1159L probably benign Het
Rev3l T A 10: 39,700,146 (GRCm39) S1548T probably benign Het
Rora A G 9: 69,286,084 (GRCm39) I471M probably benign Het
Scube1 C A 15: 83,535,877 (GRCm39) V266L probably benign Het
Sema6a C T 18: 47,416,470 (GRCm39) D386N possibly damaging Het
Siglecf T A 7: 43,004,430 (GRCm39) L253Q probably damaging Het
Spata31d1b A G 13: 59,863,464 (GRCm39) H204R probably benign Het
Syt17 T C 7: 118,007,356 (GRCm39) T313A possibly damaging Het
Tbc1d32 T C 10: 56,038,304 (GRCm39) T578A possibly damaging Het
Trpm1 A G 7: 63,918,450 (GRCm39) S597G probably benign Het
Vmn2r9 T A 5: 108,996,126 (GRCm39) H174L probably damaging Het
Vrk2 A T 11: 26,436,975 (GRCm39) S281T probably benign Het
Wdr48 A G 9: 119,736,843 (GRCm39) D22G probably damaging Het
Zfp408 C A 2: 91,479,636 (GRCm39) V61L probably benign Het
Zfp652 G A 11: 95,640,689 (GRCm39) A205T 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
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
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'- TGGCACACTAACATGAGCAGC -3'
(R):5'- TGACCGTTCTATTGTGGCAATCC -3'

Sequencing Primer
(F):5'- GAGCAGCATCATTATCTTGGTTGCC -3'
(R):5'- TGGCAATCCACTAATCCGTAGG -3'
Posted On 2017-07-14