|Institutional Source||Beutler Lab|
|Gene Name||cytochrome P450, family 24, subfamily a, polypeptide 1|
|Synonyms||CP24, 24-OHase, Cyp24, 25-hydroxyvitamin D-24-hydroxylase|
|Is this an essential gene?||Possibly essential (E-score: 0.574)|
|Stock #||R5649 (G1)|
|Chromosomal Location||170482708-170497145 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 170496309 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 105 (D105G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000047954 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000038824] [ENSMUST00000075087]|
|Predicted Effect||possibly damaging
AA Change: D105G
PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: D105G
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
FUNCTION: The protein encoded by this gene localizes to the mitochondrion, where it degrades calcitriol to calcitetrol. This gene is upregulated by binding of calcitriol to the upstream regulatory region and to a downstream enhancer region, thereby allowing calcitriol to autoregulate its concentration in the cell. The encoded protein may also play a role in calcium homeostasis. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for disruption of this gene suffer a 50% mortality rate between birth and weaning. abnormalities are seen in the development of membranous bones. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cyp24a1||
(F):5'- GGAACTCTAACGACTCCCCTTC -3'
(R):5'- GTGGCCTGAAGAAACAGCAC -3'
(F):5'- ACGTCCAGCCTCCCATCG -3'
(R):5'- GCACGACACACTGGTAAATAGTTTG -3'