|Institutional Source||Beutler Lab|
|Gene Name||vitamin D (1,25-dihydroxyvitamin D3) receptor|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5845 (G1)|
|Chromosomal Location||97854425-97910630 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 97869766 bp|
|Amino Acid Change||Glutamic Acid to Aspartic acid at position 114 (E114D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023119 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023119]|
|Predicted Effect||possibly damaging
AA Change: E114D
PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
AA Change: E114D
|Meta Mutation Damage Score||0.0793|
|Coding Region Coverage||
|Validation Efficiency||97% (59/61)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the nuclear hormone receptor for vitamin D3. This receptor also functions as a receptor for the secondary bile acid lithocholic acid. The receptor belongs to the family of trans-acting transcriptional regulatory factors and shows sequence similarity to the steroid and thyroid hormone receptors. Downstream targets of this nuclear hormone receptor are principally involved in mineral metabolism though the receptor regulates a variety of other metabolic pathways, such as those involved in the immune response and cancer. Mutations in this gene are associated with type II vitamin D-resistant rickets. A single nucleotide polymorphism in the initiation codon results in an alternate translation start site three codons downstream. Alternative splicing results in multiple transcript variants encoding different proteins. [provided by RefSeq, Feb 2011]
PHENOTYPE: Homozygous null mutants fail to thrive after weaning and may exhibit excess mortality. Postweaning mutant mice develop alopecia, hypocalcemia, infertility, and rickets. Mutant females exhibit uterine hypoplasia with impaired follicular development. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Vdr||
(F):5'- TGCCTGGGCTATACCTGATTC -3'
(R):5'- ACCGGGTTGTCTCCATGATAAG -3'
(F):5'- GGGCTATACCTGATTCTCCACTAG -3'
(R):5'- TGTCTCCATGATAAGGCATCGGC -3'