Incidental Mutation 'F5426:Odc1'
ID581
Institutional Source Beutler Lab
Gene Symbol Odc1
Ensembl Gene ENSMUSG00000011179
Gene Nameornithine decarboxylase, structural 1
SynonymsODC
Accession Numbers

Genbank: NM_013614.2

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #F5426 (G1) of strain 24G1
Quality Score
Status Validated
Chromosome12
Chromosomal Location17544794-17551505 bp(+) (GRCm38)
Type of Mutationcritical splice acceptor site
DNA Base Change (assembly) G to A at 17549423 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000128661 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171737] [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 noncoding transcript
Transcript: ENSMUST00000082493
Predicted Effect probably null
Transcript: ENSMUST00000171737
SMART Domains Protein: ENSMUSP00000128661
Gene: ENSMUSG00000011179

DomainStartEndE-ValueType
Pfam:Orn_Arg_deC_N 44 282 2.2e-93 PFAM
Pfam:Orn_DAP_Arg_deC 286 407 1.7e-37 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000171737
SMART Domains Protein: ENSMUSP00000128661
Gene: ENSMUSG00000011179

DomainStartEndE-ValueType
Pfam:Orn_Arg_deC_N 44 282 2.2e-93 PFAM
Pfam:Orn_DAP_Arg_deC 286 407 1.7e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220849
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220947
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221354
Predicted Effect silent
Transcript: ENSMUST00000221613
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221701
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222250
Predicted Effect probably benign
Transcript: ENSMUST00000222617
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222758
Meta Mutation Damage Score 0.494 question?
Coding Region Coverage
  • 1x: 78.1%
  • 3x: 56.4%
Het Detection Efficiency35.2%
Validation Efficiency 91% (29/32)
MGI Phenotype 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

All alleles(9) : Targeted, other(3) Gene trapped(6)  

Other mutations in this stock
Total: 10 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cdk5rap2 A T 4: 70,254,803 V1344E probably benign Het
D16Ertd472e C T 16: 78,548,001 C73Y probably damaging Het
Grk4 G A 5: 34,745,159 probably benign Het
Olfr110 A C 17: 37,499,536 K295T probably damaging Het
Prss12 T C 3: 123,506,472 V744A probably damaging Het
Pudp A T 18: 50,568,541 N40K probably benign Het
Rab30 T C 7: 92,829,668 I107T possibly damaging Het
Ryr3 T A 2: 112,766,338 probably benign Het
Sh2d1b1 C A 1: 170,279,781 probably null Het
Tmc5 T A 7: 118,623,323 V82D probably benign Het
Other mutations in Odc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02135:Odc1 APN 12 17547673 missense probably damaging 1.00
IGL02234:Odc1 APN 12 17548620 missense possibly damaging 0.95
IGL03007:Odc1 APN 12 17548810 missense probably benign 0.01
H8562:Odc1 UTSW 12 17548037 missense probably benign 0.11
R1648:Odc1 UTSW 12 17548537 splice site probably benign
R1898:Odc1 UTSW 12 17548841 missense probably damaging 1.00
R2224:Odc1 UTSW 12 17547335 missense probably benign 0.05
R2274:Odc1 UTSW 12 17548424 missense probably benign 0.01
R3932:Odc1 UTSW 12 17548800 missense probably benign 0.38
R4883:Odc1 UTSW 12 17547385 missense possibly damaging 0.82
R4956:Odc1 UTSW 12 17547957 missense probably damaging 1.00
R5036:Odc1 UTSW 12 17548019 missense probably damaging 1.00
R6112:Odc1 UTSW 12 17549472 missense probably benign 0.23
R6261:Odc1 UTSW 12 17550654 missense probably benign 0.00
R7092:Odc1 UTSW 12 17548313 missense possibly damaging 0.90
R7101:Odc1 UTSW 12 17547318 missense probably benign
R7243:Odc1 UTSW 12 17550057 nonsense probably null
Nature of Mutation

DNA sequencing using the SOLiD technique identified a G to A transition at base pair 17556229 in the Genbank genomic region NC_000078 for the Odc1 gene on chromosome 12 (TCCCTCTTAG ->TCCCTCTTAA). Two transcripts of the Odc1 gene are displayed on Ensembl. The mutation is located within intron 6 from the ATG exon, one nucleotide to the next exon. The Odc1 gene contains 12 total exons using Genbank record NM_013614.2. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

Protein Function and Prediction

The Odc1 gene encodes the 461 amino acid ornithine decarboxylase, the first enzyme in polyamine synthesis. The proton donor occurs at amino acid 360 (Uniprot P00860). Homozygous null mice die prior to gastrulation.  In humans, a minor ODC1 allele reduces the risk of colonic adenoma recurrence in patients who take aspirin.

Posted On2011-03-09