Incidental Mutation 'R1551:Aldh3a2'
ID 169937
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 039590-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.113) question?
Stock # R1551 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 61114240-61158267 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 61144470 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 363 (V363I)
Ref Sequence ENSEMBL: ENSMUSP00000067767 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066277] [ENSMUST00000074127] [ENSMUST00000108715]
AlphaFold P47740
Predicted Effect probably benign
Transcript: ENSMUST00000066277
AA Change: V363I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000067767
Gene: ENSMUSG00000010025
AA Change: V363I

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: V363I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000073764
Gene: ENSMUSG00000010025
AA Change: V363I

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: V363I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000104355
Gene: ENSMUSG00000010025
AA Change: V363I

DomainStartEndE-ValueType
Pfam:Aldedh 2 424 4e-93 PFAM
Pfam:LuxC 78 385 8.5e-9 PFAM
transmembrane domain 462 484 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141368
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147291
Predicted Effect probably benign
Transcript: ENSMUST00000208086
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.0%
  • 20x: 83.4%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,918,101 (GRCm39) I1534M probably benign Het
Acad11 G A 9: 104,003,785 (GRCm39) A626T probably damaging Het
Akap9 T A 5: 4,119,174 (GRCm39) N3560K probably benign Het
Anks1b A G 10: 89,912,843 (GRCm39) T289A probably benign Het
Atp11a A G 8: 12,862,340 (GRCm39) N64S probably damaging Het
Atp11c T C X: 59,282,072 (GRCm39) probably null Het
Cd101 T C 3: 100,919,329 (GRCm39) H591R probably damaging Het
Cd36 C T 5: 18,002,120 (GRCm39) V294I probably benign Het
Cfap47 C A X: 78,532,251 (GRCm39) L842F probably damaging Het
Cgref1 T C 5: 31,090,929 (GRCm39) E295G probably benign Het
Cit A G 5: 116,083,901 (GRCm39) M787V probably benign Het
Clcn6 G A 4: 148,097,235 (GRCm39) P611S possibly damaging Het
Clec12a A C 6: 129,327,384 (GRCm39) M1L probably damaging Het
Cmtm6 C T 9: 114,575,573 (GRCm39) R161W probably damaging Het
Colec10 G T 15: 54,325,658 (GRCm39) V163L probably damaging Het
Coq8b A G 7: 26,956,907 (GRCm39) Y520C probably damaging Het
Ctsll3 C A 13: 60,948,821 (GRCm39) E45* probably null Het
Dsg3 A G 18: 20,669,975 (GRCm39) E663G possibly damaging Het
Dst G A 1: 34,231,293 (GRCm39) R2962H probably benign Het
Etnk2 T C 1: 133,300,995 (GRCm39) I254T probably damaging Het
Fbxo36 T C 1: 84,858,835 (GRCm39) I40T probably damaging Het
Fgd2 G A 17: 29,597,383 (GRCm39) V568M probably damaging Het
Fmn1 T C 2: 113,356,207 (GRCm39) Y883H possibly damaging Het
Fpr-rs4 A T 17: 18,242,589 (GRCm39) T199S possibly damaging Het
Gm12789 A G 4: 101,846,131 (GRCm39) K131E probably benign Het
Gm17641 C A 3: 68,777,448 (GRCm39) silent Het
Gm6665 G T 18: 31,953,340 (GRCm39) R43S probably damaging Het
Gzmc T A 14: 56,470,203 (GRCm39) H98L probably damaging Het
Hecw1 T A 13: 14,491,528 (GRCm39) E75V probably damaging Het
Herc2 G T 7: 55,796,417 (GRCm39) V1930L probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Htr6 A T 4: 138,801,776 (GRCm39) C99* probably null Het
Lgals2 C T 15: 78,736,511 (GRCm39) M16I probably benign Het
Lrrc8c A G 5: 105,756,090 (GRCm39) N622D probably damaging Het
Myo15a A T 11: 60,383,791 (GRCm39) I1613F possibly damaging Het
Oacyl C T 18: 65,875,280 (GRCm39) R455C probably benign Het
Or13c25 A T 4: 52,911,397 (GRCm39) Y132* probably null Het
Or5ac21 T A 16: 59,123,766 (GRCm39) N84K probably benign Het
Or5bh3 T C X: 49,098,872 (GRCm39) T81A possibly damaging Het
Orm3 A G 4: 63,275,146 (GRCm39) probably null Het
Phf2 G C 13: 48,985,579 (GRCm39) T67S unknown Het
Phf2 A G 13: 48,957,079 (GRCm39) L1096P probably damaging Het
Pigt T C 2: 164,349,323 (GRCm39) V542A probably damaging Het
Pnpla7 T C 2: 24,937,720 (GRCm39) F992L probably benign Het
Ppp2r5e C G 12: 75,516,341 (GRCm39) A239P probably damaging Het
Pramel11 A G 4: 143,622,263 (GRCm39) M364T probably benign Het
Prmt7 A G 8: 106,964,014 (GRCm39) T303A probably benign Het
Prpf4b A T 13: 35,078,426 (GRCm39) I679F possibly damaging Het
Psd4 T A 2: 24,293,292 (GRCm39) M719K probably benign Het
Ranbp9 A T 13: 43,578,593 (GRCm39) M160K probably benign Het
Rfc1 A G 5: 65,434,706 (GRCm39) Y687H probably damaging Het
Rimbp2 T C 5: 128,883,423 (GRCm39) K119R probably damaging Het
Rnf113a1 T C X: 36,455,046 (GRCm39) M1T probably null Het
Rnf40 A C 7: 127,195,506 (GRCm39) K511Q possibly damaging Het
Ryr2 T A 13: 11,800,029 (GRCm39) probably null Het
Scrib A T 15: 75,937,011 (GRCm39) V365E probably damaging Het
Slc6a17 A G 3: 107,379,443 (GRCm39) V575A possibly damaging Het
Spta1 A G 1: 174,067,732 (GRCm39) N2053S possibly damaging Het
Ssbp2 G A 13: 91,790,511 (GRCm39) probably null Het
Stab1 G T 14: 30,882,456 (GRCm39) N460K probably benign Het
Tbc1d9 T A 8: 83,992,787 (GRCm39) C964S probably benign Het
Tmed11 A G 5: 108,927,680 (GRCm39) probably null Het
Tmem191 C A 16: 17,095,984 (GRCm39) R285S probably damaging Het
Tpr T C 1: 150,312,552 (GRCm39) S1917P probably benign Het
Vill A T 9: 118,892,440 (GRCm39) H357L probably benign Het
Vmn1r229 A G 17: 21,035,051 (GRCm39) T99A probably benign Het
Vmn2r14 A G 5: 109,369,283 (GRCm39) S97P probably damaging Het
Wasf2 G T 4: 132,917,483 (GRCm39) R194L unknown 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
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
R9223:Aldh3a2 UTSW 11 61,156,037 (GRCm39) missense probably benign 0.00
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'- TGTCATTTAAAAGCCCACTCGCCC -3'
(R):5'- TCACAGTGTGACCACAGTGTGACC -3'

Sequencing Primer
(F):5'- TGTGGATTCGGCTCTAACC -3'
(R):5'- tgtttgtttgtttgtttgtttgtttg -3'
Posted On 2014-04-13