Incidental Mutation 'R9223:Aldh3a2'
ID 699610
Institutional Source Beutler Lab
Gene Symbol Aldh3a2
Ensembl Gene ENSMUSG00000010025
Gene Name aldehyde dehydrogenase family 3, subfamily A2
Synonyms Ahd3-r, Ahd-3, Aldh4-r, Ahd-3r, Ahd3, Aldh4, FALDH
MMRRC Submission 068959-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.113) question?
Stock # R9223 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 61114240-61158267 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 61156037 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 80 (S80P)
Ref Sequence ENSEMBL: ENSMUSP00000073764 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066277] [ENSMUST00000074127] [ENSMUST00000108715]
AlphaFold P47740
Predicted Effect probably benign
Transcript: ENSMUST00000066277
AA Change: S80P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000067767
Gene: ENSMUSG00000010025
AA Change: S80P

DomainStartEndE-ValueType
Pfam:Aldedh 1 424 3.8e-91 PFAM
Pfam:LuxC 82 385 3.3e-8 PFAM
transmembrane domain 463 480 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000074127
AA Change: S80P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000073764
Gene: ENSMUSG00000010025
AA Change: S80P

DomainStartEndE-ValueType
Pfam:Aldedh 2 424 5.9e-93 PFAM
Pfam:LuxC 78 385 5.9e-9 PFAM
transmembrane domain 463 480 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108715
AA Change: S80P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000104355
Gene: ENSMUSG00000010025
AA Change: S80P

DomainStartEndE-ValueType
Pfam:Aldedh 2 424 4e-93 PFAM
Pfam:LuxC 78 385 8.5e-9 PFAM
transmembrane domain 462 484 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This gene product catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acid. Mutations in the gene cause Sjogren-Larsson syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit impaired long-chain base metabolism, hyperproliferation of keratinocytes, widened intercellular spaces in the basal layer of the epidermis, and delayed barrier recovery after stratum corneum perturbation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9630041A04Rik C A 9: 101,820,193 (GRCm39) D204E possibly damaging Het
Bcl6b A T 11: 70,117,400 (GRCm39) Y407* probably null Het
Ccn2 T C 10: 24,471,856 (GRCm39) V49A probably benign Het
Cel TTA TTATA 2: 28,449,441 (GRCm39) probably null Het
Cerkl A T 2: 79,171,674 (GRCm39) C395S probably damaging Het
Chst5 C A 8: 112,617,492 (GRCm39) V43L probably benign Het
Clip1 A T 5: 123,784,337 (GRCm39) F271I probably damaging Het
Clspn A G 4: 126,484,411 (GRCm39) T1190A possibly damaging Het
Col20a1 A T 2: 180,648,528 (GRCm39) E938D probably damaging Het
Dmrta2 G A 4: 109,839,779 (GRCm39) V509M probably damaging Het
Dnah7b T A 1: 46,361,420 (GRCm39) M3440K probably benign Het
Erlin1 A G 19: 44,029,184 (GRCm39) probably null Het
Fam24b A G 7: 130,927,869 (GRCm39) S107P probably benign Het
Fancm T A 12: 65,149,358 (GRCm39) I708N probably benign Het
Fbxo11 A T 17: 88,323,124 (GRCm39) D12E Het
Fbxw13 T C 9: 109,024,116 (GRCm39) D39G probably damaging Het
Gabrb3 T G 7: 57,466,152 (GRCm39) L322R probably damaging Het
Gm5239 A T 18: 35,669,672 (GRCm39) I13F possibly damaging Het
Heatr1 A G 13: 12,419,802 (GRCm39) Y375C probably benign Het
Helq A T 5: 100,946,303 (GRCm39) S13T possibly damaging Het
Helz A G 11: 107,509,918 (GRCm39) T514A probably benign Het
Hook3 A G 8: 26,522,552 (GRCm39) V32A Het
Htra4 A G 8: 25,527,048 (GRCm39) I249T possibly damaging Het
Htt G T 5: 35,062,692 (GRCm39) V2809L probably benign Het
Ifi203 T A 1: 173,765,437 (GRCm39) I46F probably benign Het
Kcna2 A T 3: 107,012,306 (GRCm39) I296F possibly damaging Het
Kndc1 A G 7: 139,501,357 (GRCm39) E882G possibly damaging Het
Krtap16-1 A T 11: 99,876,071 (GRCm39) D444E probably benign Het
Lrrtm3 ATTTT ATTTTT 10: 63,925,035 (GRCm39) probably null Het
Mdga2 C T 12: 66,615,634 (GRCm39) D658N possibly damaging Het
Mkrn1 T C 6: 39,378,183 (GRCm39) K316R possibly damaging Het
Mmd2 C T 5: 142,553,666 (GRCm39) C165Y probably damaging Het
Mpdz A G 4: 81,202,867 (GRCm39) F1843L probably damaging Het
Mrc2 G A 11: 105,220,093 (GRCm39) R338Q probably damaging Het
Naip5 C T 13: 100,364,184 (GRCm39) R372H probably benign Het
Nav2 C A 7: 49,202,599 (GRCm39) S1461Y probably damaging Het
Nol8 T A 13: 49,814,738 (GRCm39) V282D possibly damaging Het
Nup98 C A 7: 101,834,167 (GRCm39) G265V possibly damaging Het
Or1ak2 T C 2: 36,827,911 (GRCm39) F260S probably damaging Het
Or2d3b A G 7: 106,513,980 (GRCm39) T192A possibly damaging Het
Or2h15 C T 17: 38,442,012 (GRCm39) E24K possibly damaging Het
Or4f58 T A 2: 111,851,517 (GRCm39) K227N possibly damaging Het
Or4f62 T A 2: 111,986,473 (GRCm39) M59K possibly damaging Het
Or8k18 G T 2: 86,085,544 (GRCm39) F164L possibly damaging Het
Otogl T A 10: 107,690,205 (GRCm39) E888D probably damaging Het
Pcdhgc4 A G 18: 37,948,685 (GRCm39) I34V possibly damaging Het
Ppp1r12b T C 1: 134,807,376 (GRCm39) R417G probably benign Het
Rtn4 A G 11: 29,656,778 (GRCm39) S311G probably benign Het
Serinc3 A G 2: 163,478,812 (GRCm39) V105A probably benign Het
Serpina3f A G 12: 104,183,444 (GRCm39) D102G possibly damaging Het
Sik3 A G 9: 46,066,772 (GRCm39) I184V probably damaging Het
Spopfm2 A C 3: 94,082,950 (GRCm39) L287R probably damaging Het
Tex35 A T 1: 156,935,436 (GRCm39) C21S probably benign Het
Tfap2b T C 1: 19,282,649 (GRCm39) probably null Het
Thbs4 C T 13: 92,897,998 (GRCm39) C607Y probably damaging Het
Tmem144 A T 3: 79,734,964 (GRCm39) N151K probably benign Het
Tomm70a T A 16: 56,963,166 (GRCm39) M395K probably benign Het
Trim43b A C 9: 88,967,663 (GRCm39) H324Q probably benign Het
Vmn2r116 A T 17: 23,620,141 (GRCm39) Y625F probably damaging Het
Yipf3 A T 17: 46,559,798 (GRCm39) N38I probably damaging Het
Zfp804b T A 5: 6,821,496 (GRCm39) E522D probably benign Het
Other mutations in Aldh3a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00941:Aldh3a2 APN 11 61,153,082 (GRCm39) missense probably damaging 1.00
IGL01374:Aldh3a2 APN 11 61,139,828 (GRCm39) missense probably benign 0.01
IGL01514:Aldh3a2 APN 11 61,144,624 (GRCm39) unclassified probably benign
IGL01633:Aldh3a2 APN 11 61,139,731 (GRCm39) missense probably benign 0.38
IGL03153:Aldh3a2 APN 11 61,149,665 (GRCm39) missense probably damaging 0.99
R0095:Aldh3a2 UTSW 11 61,141,774 (GRCm39) missense probably damaging 1.00
R0126:Aldh3a2 UTSW 11 61,115,384 (GRCm39) missense probably benign 0.04
R0164:Aldh3a2 UTSW 11 61,139,714 (GRCm39) missense probably benign 0.23
R0164:Aldh3a2 UTSW 11 61,139,714 (GRCm39) missense probably benign 0.23
R0646:Aldh3a2 UTSW 11 61,144,541 (GRCm39) missense probably damaging 0.97
R0699:Aldh3a2 UTSW 11 61,153,148 (GRCm39) missense probably benign 0.01
R1398:Aldh3a2 UTSW 11 61,147,562 (GRCm39) splice site probably null
R1443:Aldh3a2 UTSW 11 61,155,133 (GRCm39) missense probably damaging 1.00
R1454:Aldh3a2 UTSW 11 61,155,928 (GRCm39) missense probably benign 0.00
R1551:Aldh3a2 UTSW 11 61,144,470 (GRCm39) missense probably benign 0.01
R1557:Aldh3a2 UTSW 11 61,139,885 (GRCm39) missense probably damaging 1.00
R1701:Aldh3a2 UTSW 11 61,147,598 (GRCm39) missense probably damaging 1.00
R3808:Aldh3a2 UTSW 11 61,149,623 (GRCm39) missense probably damaging 1.00
R4871:Aldh3a2 UTSW 11 61,153,065 (GRCm39) nonsense probably null
R5304:Aldh3a2 UTSW 11 61,144,538 (GRCm39) missense probably damaging 0.99
R6318:Aldh3a2 UTSW 11 61,153,245 (GRCm39) nonsense probably null
R6759:Aldh3a2 UTSW 11 61,156,088 (GRCm39) missense probably benign 0.00
R6768:Aldh3a2 UTSW 11 61,144,536 (GRCm39) missense probably benign 0.01
R7939:Aldh3a2 UTSW 11 61,115,424 (GRCm39) missense probably benign 0.00
R8803:Aldh3a2 UTSW 11 61,139,756 (GRCm39) missense probably benign
R9130:Aldh3a2 UTSW 11 61,139,758 (GRCm39) missense probably benign
R9265:Aldh3a2 UTSW 11 61,153,094 (GRCm39) missense probably damaging 1.00
Z1176:Aldh3a2 UTSW 11 61,155,109 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TAAAGACACCACAGCTGGCG -3'
(R):5'- GGGGTGGTGTCTAATAATACCAG -3'

Sequencing Primer
(F):5'- GCCAGACCTGCAGCAATG -3'
(R):5'- TCCAAACAGTTGTGGTGACC -3'
Posted On 2022-02-07