|Institutional Source||Beutler Lab|
|Gene Name||ornithine decarboxylase, structural 1|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R7638 (G1)|
|Chromosomal Location||17544794-17551505 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 17550002 bp (GRCm38)|
|Amino Acid Change||Tyrosine to Cysteine at position 389 (Y389C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000128661 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000171737] [ENSMUST00000222617]|
|PDB Structure||CRYSTAL STRUCTURE ORNITHINE DECARBOXYLASE FROM MOUSE, TRUNCATED 37 RESIDUES FROM THE C-TERMINUS, TO 1.6 ANGSTROM RESOLUTION [X-RAY DIFFRACTION]|
AA Change: Y389C
PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: Y389C
|Coding Region Coverage||
|Validation Efficiency||100% (71/71)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the rate-limiting enzyme of the polyamine biosynthesis pathway which catalyzes ornithine to putrescine. The activity level for the enzyme varies in response to growth-promoting stimuli and exhibits a high turnover rate in comparison to other mammalian proteins. Originally localized to both chromosomes 2 and 7, the gene encoding this enzyme has been determined to be located on 2p25, with a pseudogene located on 7q31-qter. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Dec 2013]
PHENOTYPE: Homozygous null embryos die prior to gastrulation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Odc1||
(F):5'- GAAGGTAAGTTCTGAGCATGCTC -3'
(R):5'- ATGTGTGTATGTATGCACCAGG -3'
(F):5'- CTCTTTAGCAGTGAGAATGGTGGAC -3'
(R):5'- TGTATGTATGCACCAGGGATAGAACC -3'