|Institutional Source||Beutler Lab|
|Gene Name||aldehyde dehydrogenase family 1, subfamily A2|
|Synonyms||retinaldehyde dehydrogenase, Aldh1a7, Raldh2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R1717 (G1)|
|Chromosomal Location||71215789-71296243 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 71293671 bp|
|Amino Acid Change||Asparagine to Isoleucine at position 517 (N517I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034723 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034723]|
|Predicted Effect||probably damaging
AA Change: N517I
PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: N517I
|Meta Mutation Damage Score||0.1386|
|Coding Region Coverage||
|Validation Efficiency||98% (81/83)|
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||
|Other mutations in Aldh1a2||
(F):5'- CCATGACCTTCTGCTCAGAACTGAC -3'
(R):5'- GCATCAATTGCTGAAGCTCCCTCAC -3'
(F):5'- TGCTCAGAACTGACAGCTTC -3'
(R):5'- AGGCAACTCCTTCCAGAGTG -3'