Incidental Mutation 'R6743:Cda'
ID 532731
Institutional Source Beutler Lab
Gene Symbol Cda
Ensembl Gene ENSMUSG00000028755
Gene Name cytidine deaminase
Synonyms 2210401N16Rik
MMRRC Submission 044860-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R6743 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 138065735-138095303 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 138066253 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 128 (T128K)
Ref Sequence ENSEMBL: ENSMUSP00000030535 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030535]
AlphaFold P56389
PDB Structure Crystal Structure of Mouse Cytidine Deaminase Complexed with 3-Deazauridine [X-RAY DIFFRACTION]
Crystal Structure of Mouse Cytidine Deaminase Complexed with Tetrahydrouridine [X-RAY DIFFRACTION]
Crystal Structure of Mouse Cytidine Deaminase Complexed with Cytidine [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000030535
AA Change: T128K

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000030535
Gene: ENSMUSG00000028755
AA Change: T128K

DomainStartEndE-ValueType
Pfam:dCMP_cyt_deam_2 2 92 3.3e-12 PFAM
Pfam:dCMP_cyt_deam_1 12 118 1.9e-18 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 100% (39/39)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme involved in pyrimidine salvaging. The encoded protein forms a homotetramer that catalyzes the irreversible hydrolytic deamination of cytidine and deoxycytidine to uridine and deoxyuridine, respectively. It is one of several deaminases responsible for maintaining the cellular pyrimidine pool. Mutations in this gene are associated with decreased sensitivity to the cytosine nucleoside analogue cytosine arabinoside used in the treatment of certain childhood leukemias. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg1 C T 17: 31,327,321 (GRCm39) R339C possibly damaging Het
Adamts6 G A 13: 104,565,436 (GRCm39) G721R probably damaging Het
Adnp2 A G 18: 80,171,274 (GRCm39) V1045A probably benign Het
Agbl3 T C 6: 34,823,888 (GRCm39) I856T probably benign Het
Anapc1 T A 2: 128,526,454 (GRCm39) K115* probably null Het
Arc A G 15: 74,543,636 (GRCm39) S196P probably benign Het
Atp10a T C 7: 58,447,562 (GRCm39) I768T possibly damaging Het
Blk C T 14: 63,622,375 (GRCm39) R55H probably benign Het
Ccdc158 T C 5: 92,810,005 (GRCm39) S168G probably benign Het
Celsr1 T A 15: 85,791,799 (GRCm39) T2601S probably damaging Het
Dmxl1 T C 18: 50,013,847 (GRCm39) V1545A possibly damaging Het
Dst T A 1: 34,309,971 (GRCm39) N6264K probably damaging Het
Ednra T C 8: 78,401,718 (GRCm39) S191G probably damaging Het
Elk3 A T 10: 93,100,912 (GRCm39) S280T possibly damaging Het
Etnk1 A G 6: 143,126,343 (GRCm39) I63V possibly damaging Het
Fscb A G 12: 64,518,347 (GRCm39) S1040P unknown Het
Gm14295 T G 2: 176,502,420 (GRCm39) C637G probably damaging Het
Gm5114 T C 7: 39,057,997 (GRCm39) T541A probably benign Het
Man2c1 T C 9: 57,042,849 (GRCm39) F240L probably benign Het
Map2 A T 1: 66,454,766 (GRCm39) I1219L probably benign Het
Map3k13 A G 16: 21,711,173 (GRCm39) Y152C probably damaging Het
Morc1 G A 16: 48,322,683 (GRCm39) A327T probably damaging Het
Myo3a A T 2: 22,366,475 (GRCm39) Y553F probably benign Het
Myo9b T A 8: 71,804,803 (GRCm39) probably null Het
Or14j1 A C 17: 38,146,694 (GRCm39) D268A probably damaging Het
Or5b3 C T 19: 13,387,957 (GRCm39) T8I probably damaging Het
Pam A G 1: 97,823,774 (GRCm39) V219A probably benign Het
Panx1 A G 9: 14,918,929 (GRCm39) I310T possibly damaging Het
Pde6a T A 18: 61,397,057 (GRCm39) F634L possibly damaging Het
Pkd1l2 C A 8: 117,757,370 (GRCm39) C1556F probably damaging Het
Prdm5 G A 6: 65,860,635 (GRCm39) V440I probably damaging Het
Rasa2 T C 9: 96,493,493 (GRCm39) T64A probably damaging Het
Sec24b A T 3: 129,834,881 (GRCm39) Y106N probably damaging Het
Sfswap C T 5: 129,627,883 (GRCm39) Q689* probably null Het
Slamf8 C T 1: 172,417,965 (GRCm39) probably null Het
Tektl1 G A 10: 78,588,726 (GRCm39) T28M probably benign Het
Tmt1a3 A G 15: 100,233,123 (GRCm39) K105E probably benign Het
Tsr1 T C 11: 74,799,177 (GRCm39) V786A probably benign Het
Yod1 G A 1: 130,645,275 (GRCm39) G19S probably damaging Het
Zmynd10 T C 9: 107,425,079 (GRCm39) I58T possibly damaging Het
Other mutations in Cda
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00233:Cda APN 4 138,095,157 (GRCm39) missense probably damaging 1.00
IGL02527:Cda APN 4 138,070,832 (GRCm39) nonsense probably null
R1302:Cda UTSW 4 138,078,502 (GRCm39) missense probably damaging 1.00
R9385:Cda UTSW 4 138,078,598 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- ATGTGGCAAGTGTCCCCAAG -3'
(R):5'- GCCAATGCTTTTCCACTGAG -3'

Sequencing Primer
(F):5'- AAGTGTCCCCAAGGCCCAG -3'
(R):5'- CTCTGTGAGCCAGGTACAACTATTG -3'
Posted On 2018-08-29