Incidental Mutation 'R5304:Aldh3a2'
ID 404449
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 042887-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.113) question?
Stock # R5304 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 61114240-61158267 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 61144538 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 340 (V340A)
Ref Sequence ENSEMBL: ENSMUSP00000104355 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066277] [ENSMUST00000074127] [ENSMUST00000108715]
AlphaFold P47740
Predicted Effect probably damaging
Transcript: ENSMUST00000066277
AA Change: V340A

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000067767
Gene: ENSMUSG00000010025
AA Change: V340A

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 damaging
Transcript: ENSMUST00000074127
AA Change: V340A

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000073764
Gene: ENSMUSG00000010025
AA Change: V340A

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 damaging
Transcript: ENSMUST00000108715
AA Change: V340A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104355
Gene: ENSMUSG00000010025
AA Change: V340A

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
Meta Mutation Damage Score 0.3590 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 99% (87/88)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 C T 11: 7,014,198 (GRCm39) A200V probably benign Het
Adgrv1 T C 13: 81,726,372 (GRCm39) D551G possibly damaging Het
Amy1 C A 3: 113,352,013 (GRCm39) C393F probably damaging Het
Ankrd16 T C 2: 11,794,545 (GRCm39) V310A probably benign Het
Arhgef15 T C 11: 68,838,063 (GRCm39) S686G probably null Het
Arid4b T A 13: 14,361,514 (GRCm39) N659K probably benign Het
Asz1 C T 6: 18,076,619 (GRCm39) R191Q probably benign Het
Atp2a3 A G 11: 72,879,383 (GRCm39) I947V probably damaging Het
AW011738 G A 4: 156,287,969 (GRCm39) probably benign Het
Bfsp1 G T 2: 143,669,211 (GRCm39) T456K probably benign Het
Cdc25c T C 18: 34,883,864 (GRCm39) T40A possibly damaging Het
Cdh20 G A 1: 110,036,569 (GRCm39) C583Y probably damaging Het
Ceacam23 A C 7: 17,636,617 (GRCm39) E231D probably benign Het
Cfap54 A T 10: 92,656,968 (GRCm39) L3028Q probably damaging Het
Chd1 A G 17: 15,975,213 (GRCm39) S1088G probably benign Het
Chd1 A T 17: 15,990,530 (GRCm39) H1694L possibly damaging Het
Cstf3 G T 2: 104,493,735 (GRCm39) E580* probably null Het
Dip2a A T 10: 76,130,357 (GRCm39) M622K possibly damaging Het
Dlgap1 A T 17: 71,122,202 (GRCm39) H877L probably damaging Het
Egfr G T 11: 16,834,260 (GRCm39) M122I probably benign Het
Etfbkmt T A 6: 149,048,704 (GRCm39) D114E probably damaging Het
Eva1c T C 16: 90,666,551 (GRCm39) L158P probably damaging Het
Exo1 G A 1: 175,720,542 (GRCm39) V287M probably damaging Het
Fam171a1 T C 2: 3,226,654 (GRCm39) Y471H probably damaging Het
Fermt1 T A 2: 132,783,986 (GRCm39) T8S probably benign Het
Fgfr2 G T 7: 129,769,504 (GRCm39) P630T probably damaging Het
Fmo5 G A 3: 97,558,938 (GRCm39) G466E probably damaging Het
Hcn4 A G 9: 58,751,215 (GRCm39) I280M probably benign Het
Ifi208 A C 1: 173,511,174 (GRCm39) K443T probably benign Het
Irs3 A G 5: 137,643,003 (GRCm39) F145S probably benign Het
Kirrel1 T A 3: 86,996,902 (GRCm39) H300L probably benign Het
Krit1 A G 5: 3,869,326 (GRCm39) Q340R probably damaging Het
Lipo5 T C 19: 33,445,149 (GRCm39) D140G unknown Het
Lrrtm4 A T 6: 79,999,683 (GRCm39) Q365L probably benign Het
Lrwd1 G T 5: 136,160,004 (GRCm39) T353K possibly damaging Het
Lsm14a A T 7: 34,053,154 (GRCm39) S240R possibly damaging Het
Map3k5 A G 10: 19,983,984 (GRCm39) I870V probably benign Het
Matcap2 A T 9: 22,335,528 (GRCm39) T49S probably benign Het
Mmp17 A T 5: 129,671,678 (GRCm39) E76V probably null Het
Mphosph10 A G 7: 64,038,732 (GRCm39) F272L probably damaging Het
Mtcl2 G A 2: 156,865,737 (GRCm39) Q1127* probably null Het
Myh10 A G 11: 68,655,071 (GRCm39) K380R probably damaging Het
Myo3b C T 2: 70,257,232 (GRCm39) P1282L probably damaging Het
Nemp2 T C 1: 52,682,238 (GRCm39) probably benign Het
Ola1 T C 2: 73,029,778 (GRCm39) I114V probably damaging Het
Or4c3d T A 2: 89,882,257 (GRCm39) H137L probably benign Het
Or8k28 T A 2: 86,285,779 (GRCm39) T279S probably damaging Het
Pabpc4 T G 4: 123,184,100 (GRCm39) D204E probably benign Het
Pigr A T 1: 130,777,230 (GRCm39) M679L probably benign Het
Pik3c2b A T 1: 132,998,146 (GRCm39) M341L possibly damaging Het
Plin4 T A 17: 56,413,132 (GRCm39) T498S probably benign Het
Ppp2r5e A G 12: 75,562,459 (GRCm39) S15P possibly damaging Het
Prdm13 T C 4: 21,678,984 (GRCm39) Y502C probably damaging Het
Ptprk T C 10: 28,468,050 (GRCm39) probably null Het
Rapgef6 T C 11: 54,548,200 (GRCm39) S505P probably benign Het
Rgmb G T 17: 16,040,990 (GRCm39) S199* probably null Het
Rgsl1 T C 1: 153,703,238 (GRCm39) T173A probably damaging Het
Rhobtb1 G T 10: 69,105,742 (GRCm39) K102N probably damaging Het
Ripor2 A T 13: 24,858,649 (GRCm39) D147V probably damaging Het
Rsad2 A T 12: 26,500,681 (GRCm39) V202E probably damaging Het
Slc1a6 A G 10: 78,629,141 (GRCm39) N186S probably damaging Het
Sorbs3 G A 14: 70,422,345 (GRCm39) R622* probably null Het
Spag9 C A 11: 93,959,838 (GRCm39) D342E probably damaging Het
Srgap3 T C 6: 112,743,900 (GRCm39) Y446C probably damaging Het
Thsd7b C T 1: 129,605,980 (GRCm39) R574* probably null Het
Tmem74 A T 15: 43,730,217 (GRCm39) Y275* probably null Het
Topors A T 4: 40,262,541 (GRCm39) S248T possibly damaging Het
Trpm1 A T 7: 63,858,694 (GRCm39) Y239F probably benign Het
Ttn T A 2: 76,548,527 (GRCm39) Y30179F possibly damaging Het
Ugt2b34 A T 5: 87,040,724 (GRCm39) F399L probably damaging Het
Ush2a A T 1: 188,088,995 (GRCm39) I317F probably damaging Het
Usp1 T C 4: 98,822,855 (GRCm39) V723A probably benign Het
Usp34 T G 11: 23,293,616 (GRCm39) L237V probably damaging Het
Vgf A T 5: 137,061,140 (GRCm39) D434V probably damaging Het
Vmn1r179 A G 7: 23,628,100 (GRCm39) N97S probably benign Het
Vps13a A G 19: 16,687,751 (GRCm39) L899P possibly damaging Het
Vps33b A T 7: 79,924,001 (GRCm39) I41F probably damaging Het
Zap70 A T 1: 36,817,299 (GRCm39) H210L probably damaging Het
Zc3h8 T C 2: 128,770,835 (GRCm39) D300G probably benign Het
Zfp958 C A 8: 4,676,196 (GRCm39) H55N possibly damaging 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
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'- TCGGTCAGTCAACGTTGATATAC -3'
(R):5'- CTTGTGTAGTGGATGCCCAG -3'

Sequencing Primer
(F):5'- GCGTACCTTATTGTTACGAGA -3'
(R):5'- ATGCCCAGTGGGTGGTTAACC -3'
Posted On 2016-07-22