|Institutional Source||Beutler Lab|
|Gene Name||ornithine decarboxylase, structural 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8496 (G1)|
|Chromosomal Location||17544794-17551505 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 17548395 bp|
|Amino Acid Change||Leucine to Histidine at position 179 (L179H)|
|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]|
|Predicted Effect||probably damaging
AA Change: L179H
PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
AA Change: L179H
|Predicted Effect||probably benign
|Coding Region Coverage||
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'- TGTGTCAGACAAGCAGCAG -3'
(R):5'- CATGTCAAACACACAGCGGG -3'
(F):5'- GCAGCAGCACCTACACGTAG -3'
(R):5'- GGTCTCAGGATCAGTACATCCACTG -3'