|Institutional Source||Beutler Lab|
|Gene Name||dihydropyrimidine dehydrogenase|
|Is this an essential gene?||Possibly non essential (E-score: 0.329)|
|Stock #||R0387 (G1)|
|Chromosomal Location||118562129-119432924 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 119427226 bp|
|Amino Acid Change||Aspartic acid to Asparagine at position 949 (D949N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000039429 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000039177]|
|Predicted Effect||probably benign
AA Change: D949N
PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
AA Change: D949N
|Meta Mutation Damage Score||0.148|
|Coding Region Coverage||
|Validation Efficiency||99% (77/78)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a pyrimidine catabolic enzyme and the initial and rate-limiting factor in the pathway of uracil and thymidine catabolism. Mutations in this gene result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidine metabolism associated with thymine-uraciluria and an increased risk of toxicity in cancer patients receiving 5-fluorouracil chemotherapy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dpyd||
(F):5'- CCAGGTAAGCCAAGTGTCACTTACAGAA -3'
(R):5'- GGAGACATCTTTGACATACGTGGTTTGA -3'
(F):5'- CAAGTGTCACTTACAGAAAGTGC -3'
(R):5'- GAATTGTACATTTAGCATCAGAAGAC -3'
|Posted On||Apr 24, 2013|