|Institutional Source||Beutler Lab|
|Gene Name||cytochrome P450, family 4, subfamily v, polypeptide 3|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5667 (G1)|
|Chromosomal Location||45304944-45333216 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 45308535 bp|
|Amino Acid Change||Threonine to Lysine at position 417 (T417K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000092966 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000095328]|
|Predicted Effect||possibly damaging
AA Change: T417K
PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
AA Change: T417K
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.0632|
|Coding Region Coverage||
|Validation Efficiency||96% (54/56)|
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 hemethiolate protein superfamily which are involved in oxidizing various substrates in the metabolic pathway. It is implicated in the metabolism of fatty acid precursors into n-3 polyunsaturated fatty acids. Mutations in this gene result in Bietti crystalline corneoretinal dystrophy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit corneoretinal crystal accumulation and systemic dyslipidemia characteristic of Bietti Crystalline Dystrophy. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cyp4v3||
(F):5'- CTATCACCTGGGCCTGAAAG -3'
(R):5'- TGCGTCATTAAGGAGACTCTC -3'
(F):5'- GTGAAAGTCACTTGCATGGATAC -3'
(R):5'- GGAGACTCTCCGAGTTTTCC -3'