|Institutional Source||Beutler Lab|
|Gene Name||cytochrome P450, family 2, subfamily c, polypeptide 55|
|Is this an essential gene?||Probably non essential (E-score: 0.080)|
|Stock #||R6431 (G1)|
|Chromosomal Location||39007019-39042693 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 39031409 bp|
|Amino Acid Change||Isoleucine to Phenylalanine at position 264 (I264F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025966 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025966]|
|Predicted Effect||probably damaging
AA Change: I264F
PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
AA Change: I264F
|Meta Mutation Damage Score||0.5109|
|Coding Region Coverage||
|Validation Efficiency||100% (68/68)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum but its specific substrate has not yet been determined. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. An additional gene, CYP2C17, was once thought to exist; however, CYP2C17 is now considered an artefact based on a chimera of CYP2C18 and CYP2C19. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cyp2c55||
(F):5'- CAAATGTGAGTGACTACATTCAGC -3'
(R):5'- AAGTGCTTCTTGCCTGGAAAG -3'
(F):5'- GAGTGACTACATTCAGCCTAATAAAC -3'
(R):5'- GACTGCTCTTCCAAAGATCTGGAG -3'