Incidental Mutation 'IGL03380:Aldh1a2'
ID420668
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aldh1a2
Ensembl Gene ENSMUSG00000013584
Gene Namealdehyde dehydrogenase family 1, subfamily A2
Synonymsretinaldehyde dehydrogenase, Aldh1a7, Raldh2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03380
Quality Score
Status
Chromosome9
Chromosomal Location71215789-71296243 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to G at 71255117 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 149 (Y149*)
Ref Sequence ENSEMBL: ENSMUSP00000034723 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034723]
Predicted Effect probably null
Transcript: ENSMUST00000034723
AA Change: Y149*
SMART Domains Protein: ENSMUSP00000034723
Gene: ENSMUSG00000013584
AA Change: Y149*

DomainStartEndE-ValueType
Pfam:Aldedh 46 509 2.5e-187 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein belongs to the aldehyde dehydrogenase family of proteins. The product of this gene is an enzyme that catalyzes the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic acid, the active derivative of vitamin A (retinol), is a hormonal signaling molecule that functions in developing and adult tissues. The studies of a similar mouse gene suggest that this enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels which facilitate posterior organ development and prevent spina bifida. Four transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2011]
PHENOTYPE: Homozygotes for null mutations are largely devoid of retinoic acid and die by embryonic day 10.5 with impaired hindbrain development, failure to turn, lack of limb buds, heart abnormalities, reduced otocysts and a truncated frontonasal region. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,298,574 N2774D probably benign Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Arhgap23 A G 11: 97,452,518 D542G probably damaging Het
Atp8a1 T C 5: 67,732,186 E582G probably benign Het
C4b A T 17: 34,740,286 V438D probably benign Het
Caps2 A G 10: 112,200,696 E345G probably benign Het
Cdk19 C T 10: 40,476,912 P308L probably benign Het
Drc3 A G 11: 60,377,905 E307G probably benign Het
Dst G A 1: 34,257,800 A1041T probably damaging Het
Elp2 T C 18: 24,622,480 V428A probably benign Het
Eml5 G T 12: 98,874,647 probably benign Het
Fam120b G A 17: 15,403,134 probably benign Het
Fpr-rs6 G A 17: 20,182,983 L39F possibly damaging Het
Fsd1 T C 17: 55,995,456 I300T probably benign Het
Hsd17b6 T C 10: 127,994,338 probably null Het
Hspa1a T C 17: 34,970,277 K550R probably benign Het
Krba1 A G 6: 48,403,453 H37R possibly damaging Het
Lama2 T C 10: 27,050,265 D2117G probably damaging Het
Map4k2 T C 19: 6,344,590 F332S possibly damaging Het
Mindy1 T C 3: 95,291,018 probably benign Het
Nhsl1 T G 10: 18,523,879 Y284* probably null Het
Olfr1463 T A 19: 13,235,001 F250L probably benign Het
Pkhd1 T A 1: 20,200,670 T3220S probably damaging Het
Pramel7 A T 2: 87,491,372 D106E probably benign Het
Psme3 T C 11: 101,320,026 probably null Het
Rsph1 T C 17: 31,277,236 E7G unknown Het
Slc13a2 T C 11: 78,399,082 T469A probably benign Het
Slc30a9 C T 5: 67,315,711 T46I probably benign Het
Slc37a4 T G 9: 44,400,023 S204A probably benign Het
Slc8b1 T C 5: 120,519,735 F88L probably damaging Het
Smpd3 C T 8: 106,259,659 V504I probably benign Het
Tbx4 A G 11: 85,914,639 N418S probably benign Het
Tmem132c A G 5: 127,536,442 T470A probably benign Het
Tmem207 A T 16: 26,526,657 C20S probably damaging Het
Usp43 G A 11: 67,875,316 A761V possibly damaging Het
Vmn1r191 C T 13: 22,178,885 S233N probably damaging Het
Vmn2r58 T A 7: 41,864,450 E256D probably benign Het
Zc3hav1 T C 6: 38,336,558 Y184C probably damaging Het
Other mutations in Aldh1a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00931:Aldh1a2 APN 9 71215969 splice site probably benign
IGL01327:Aldh1a2 APN 9 71285966 missense possibly damaging 0.95
IGL02293:Aldh1a2 APN 9 71285277 splice site probably null
R0574:Aldh1a2 UTSW 9 71281708 critical splice donor site probably null
R1189:Aldh1a2 UTSW 9 71263823 missense possibly damaging 0.69
R1217:Aldh1a2 UTSW 9 71281682 missense possibly damaging 0.94
R1270:Aldh1a2 UTSW 9 71281706 missense probably benign 0.03
R1445:Aldh1a2 UTSW 9 71285210 missense possibly damaging 0.82
R1717:Aldh1a2 UTSW 9 71293671 missense probably damaging 0.99
R1737:Aldh1a2 UTSW 9 71285171 missense possibly damaging 0.56
R1755:Aldh1a2 UTSW 9 71261741 nonsense probably null
R1984:Aldh1a2 UTSW 9 71253052 missense probably damaging 1.00
R2248:Aldh1a2 UTSW 9 71215862 missense possibly damaging 0.90
R2407:Aldh1a2 UTSW 9 71252598 missense probably damaging 0.99
R3772:Aldh1a2 UTSW 9 71252920 missense probably damaging 1.00
R4945:Aldh1a2 UTSW 9 71215916 missense probably benign 0.00
R5042:Aldh1a2 UTSW 9 71285004 missense possibly damaging 0.69
R5066:Aldh1a2 UTSW 9 71281700 missense possibly damaging 0.82
R5406:Aldh1a2 UTSW 9 71255121 missense possibly damaging 0.93
R5425:Aldh1a2 UTSW 9 71253004 missense probably benign 0.00
R5588:Aldh1a2 UTSW 9 71283450 missense probably damaging 1.00
R6048:Aldh1a2 UTSW 9 71261767 missense probably damaging 0.98
R6455:Aldh1a2 UTSW 9 71252914 critical splice acceptor site probably null
R6642:Aldh1a2 UTSW 9 71252986 missense probably damaging 1.00
R7253:Aldh1a2 UTSW 9 71215934 missense probably benign
R7514:Aldh1a2 UTSW 9 71284963 missense probably damaging 1.00
RF018:Aldh1a2 UTSW 9 71285270 missense probably damaging 1.00
Z1177:Aldh1a2 UTSW 9 71283522 missense probably benign 0.40
Posted On2016-08-02