|List |< first << previous [record 17 of 75] next >> last >||
|Institutional Source||Beutler Lab|
|Gene Name||dihydropyrimidine dehydrogenase|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0081 (G1)|
|Chromosomal Location||118562129-119432924 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 118944255 bp|
|Amino Acid Change||Valine to Isoleucine at position 482 (V482I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000039429 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000039177]|
|Predicted Effect||probably benign
AA Change: V482I
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: V482I
|Meta Mutation Damage Score||0.2043|
|Coding Region Coverage||
|Validation Efficiency||94% (159/169)|
|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'- GGTAACAGCTTCCTGGATGAGCAC -3'
(R):5'- TGTGGACTCACATAGGCACATGAAC -3'
(F):5'- GTGAACTAGATACTTGATACTGCCC -3'
(R):5'- TAGGCACATGAACCAGCTTAGATTC -3'