Incidental Mutation 'R6112:Odc1'
ID 484921
Institutional Source Beutler Lab
Gene Symbol Odc1
Ensembl Gene ENSMUSG00000011179
Gene Name ornithine decarboxylase, structural 1
Synonyms ODC
MMRRC Submission 044261-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6112 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 17594906-17601503 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 17599473 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 267 (S267A)
Ref Sequence ENSEMBL: ENSMUSP00000128661 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171737] [ENSMUST00000222617]
AlphaFold P00860
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 benign
Transcript: ENSMUST00000171737
AA Change: S267A

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000128661
Gene: ENSMUSG00000011179
AA Change: S267A

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 probably benign
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 0.0812 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.1%
Validation Efficiency 98% (54/55)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 A G 16: 14,278,780 (GRCm39) Y1030C probably damaging Het
Adh5 G T 3: 138,157,029 (GRCm39) V197F probably damaging Het
Ankmy1 A T 1: 92,798,684 (GRCm39) F936I probably damaging Het
Aoc1 A T 6: 48,885,625 (GRCm39) D710V probably damaging Het
Aplp1 T C 7: 30,134,902 (GRCm39) E622G probably damaging Het
Arhgap20 T C 9: 51,740,684 (GRCm39) Y219H probably damaging Het
Bag3 A G 7: 128,143,556 (GRCm39) D184G probably damaging Het
Cacna1g C T 11: 94,300,072 (GRCm39) A2216T probably damaging Het
Cbarp T C 10: 79,971,205 (GRCm39) probably null Het
Cep250 C A 2: 155,836,503 (GRCm39) L2211I possibly damaging Het
Cfap65 A G 1: 74,942,298 (GRCm39) I1752T probably benign Het
Col4a4 A G 1: 82,431,604 (GRCm39) V1560A unknown Het
Dapk3 A T 10: 81,019,864 (GRCm39) Q6L probably benign Het
Dctn5 A G 7: 121,732,460 (GRCm39) probably benign Het
Eef1akmt1 A T 14: 57,787,330 (GRCm39) I182N possibly damaging Het
Eef1g T C 19: 8,954,955 (GRCm39) F346S probably damaging Het
Erap1 G T 13: 74,794,398 (GRCm39) W19L probably benign Het
Gm10801 A G 2: 98,494,409 (GRCm39) H162R probably benign Het
Gpm6a G A 8: 55,507,845 (GRCm39) A194T probably benign Het
Grip1 C A 10: 119,829,137 (GRCm39) N32K probably benign Het
Hmcn1 A G 1: 150,494,687 (GRCm39) I4134T probably damaging Het
Hspa14 G A 2: 3,499,105 (GRCm39) H230Y probably benign Het
Ift172 T C 5: 31,414,241 (GRCm39) T1435A probably benign Het
Igsf3 T A 3: 101,358,322 (GRCm39) Y738N probably damaging Het
Lcor T C 19: 41,547,520 (GRCm39) V368A possibly damaging Het
Lmna C A 3: 88,393,928 (GRCm39) E217* probably null Het
Lrp1b C T 2: 41,231,894 (GRCm39) G337E probably benign Het
Maf1 A G 15: 76,236,312 (GRCm39) probably benign Het
Magi1 T C 6: 93,722,571 (GRCm39) I436V probably damaging Het
Muc4 C T 16: 32,596,157 (GRCm39) T3123I possibly damaging Het
Muc5b T A 7: 141,417,042 (GRCm39) H3329Q probably benign Het
Noa1 C T 5: 77,457,593 (GRCm39) R104Q probably benign Het
Or5p60 T A 7: 107,724,369 (GRCm39) I34F probably benign Het
Pam A G 1: 97,762,193 (GRCm39) Y691H probably damaging Het
Pamr1 T C 2: 102,441,953 (GRCm39) Y181H probably damaging Het
Pcdhga2 T A 18: 37,802,612 (GRCm39) I152N probably damaging Het
Pigt C T 2: 164,348,365 (GRCm39) Q437* probably null Het
Prx T C 7: 27,215,973 (GRCm39) L158P probably damaging Het
Ptprh T A 7: 4,600,922 (GRCm39) T152S probably benign Het
Pum1 G A 4: 130,457,591 (GRCm39) R201H probably damaging Het
Rad51ap2 T C 12: 11,507,290 (GRCm39) I404T probably benign Het
Radil C T 5: 142,529,399 (GRCm39) R99H probably damaging Het
Rc3h2 C T 2: 37,268,899 (GRCm39) V856I possibly damaging Het
Slx4ip T A 2: 136,888,664 (GRCm39) V115E probably damaging Het
Snx3 C A 10: 42,402,042 (GRCm39) S85R probably benign Het
Sppl2c A T 11: 104,077,963 (GRCm39) E254D probably benign Het
Srms C A 2: 180,849,780 (GRCm39) E237* probably null Het
Tenm1 C T X: 41,916,072 (GRCm39) G404E probably damaging Het
Trank1 T C 9: 111,220,805 (GRCm39) L2514P probably damaging Het
Trib1 C T 15: 59,523,487 (GRCm39) R174* probably null Het
Usp4 A G 9: 108,233,703 (GRCm39) Y108C probably damaging Het
Vmn2r60 A T 7: 41,844,847 (GRCm39) I737F probably damaging Het
Zfp600 A T 4: 146,131,701 (GRCm39) H123L probably benign Het
Zfp646 G T 7: 127,478,190 (GRCm39) R122S possibly damaging Het
Znfx1 A G 2: 166,880,126 (GRCm39) Y553H probably benign Het
Other mutations in Odc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02135:Odc1 APN 12 17,597,674 (GRCm39) missense probably damaging 1.00
IGL02234:Odc1 APN 12 17,598,621 (GRCm39) missense possibly damaging 0.95
IGL03007:Odc1 APN 12 17,598,811 (GRCm39) missense probably benign 0.01
F5426:Odc1 UTSW 12 17,599,424 (GRCm39) critical splice acceptor site probably null
H8562:Odc1 UTSW 12 17,598,038 (GRCm39) missense probably benign 0.11
R1648:Odc1 UTSW 12 17,598,538 (GRCm39) splice site probably benign
R1898:Odc1 UTSW 12 17,598,842 (GRCm39) missense probably damaging 1.00
R2224:Odc1 UTSW 12 17,597,336 (GRCm39) missense probably benign 0.05
R2274:Odc1 UTSW 12 17,598,425 (GRCm39) missense probably benign 0.01
R3932:Odc1 UTSW 12 17,598,801 (GRCm39) missense probably benign 0.38
R4883:Odc1 UTSW 12 17,597,386 (GRCm39) missense possibly damaging 0.82
R4956:Odc1 UTSW 12 17,597,958 (GRCm39) missense probably damaging 1.00
R5036:Odc1 UTSW 12 17,598,020 (GRCm39) missense probably damaging 1.00
R6261:Odc1 UTSW 12 17,600,655 (GRCm39) missense probably benign 0.00
R7092:Odc1 UTSW 12 17,598,314 (GRCm39) missense possibly damaging 0.90
R7101:Odc1 UTSW 12 17,597,319 (GRCm39) missense probably benign
R7243:Odc1 UTSW 12 17,600,058 (GRCm39) nonsense probably null
R7638:Odc1 UTSW 12 17,600,003 (GRCm39) missense probably damaging 0.99
R8496:Odc1 UTSW 12 17,598,396 (GRCm39) missense probably damaging 1.00
R8924:Odc1 UTSW 12 17,598,329 (GRCm39) missense possibly damaging 0.93
R9218:Odc1 UTSW 12 17,598,312 (GRCm39) nonsense probably null
R9647:Odc1 UTSW 12 17,598,614 (GRCm39) missense possibly damaging 0.93
Z1177:Odc1 UTSW 12 17,600,723 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGGCAATGGTGTGCAGACTG -3'
(R):5'- ACATGGGCATGATCATAAAGAATGC -3'

Sequencing Primer
(F):5'- CAATGGTGTGCAGACTGGTTTCC -3'
(R):5'- CATGAAGGTTTGTTCATTTGACTC -3'
Posted On 2017-08-16