|Institutional Source||Beutler Lab|
|Gene Name||RAR-related orphan receptor alpha|
|Synonyms||tmgc26, Nr1f1, 9530021D13Rik|
|Is this an essential gene?||Probably essential (E-score: 0.878)|
|Stock #||R7028 (G1)|
|Chromosomal Location||68653786-69388246 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 69196083 bp (GRCm38)|
|Amino Acid Change||Valine to Isoleucine at position 31 (V31I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000134291 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034766] [ENSMUST00000174296]|
AA Change: V59I
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: V59I
AA Change: V31I
PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|Coding Region Coverage||
FUNCTION: The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of those genes. The encoded protein has been shown to interact with NM23-2, a nucleoside diphosphate kinase involved in organogenesis and differentiation, as well as with NM23-1, the product of a tumor metastasis suppressor candidate gene. Also, it has been shown to aid in the transcriptional regulation of some genes involved in circadian rhythm. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2014]
PHENOTYPE: Homozygotes for null mutations exhibit ataxia, cerebellar dysgenesis, impaired Purkinje and granule cell development, olfactory defects, hypoalphalipoproteinemia, and death around 4 weeks. Heterozygotes show slow Purkinje cell dedritic atrophy and loss. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rora||
(F):5'- AAGTGGATGGGCTCACAGTC -3'
(R):5'- TCAGCTTATGCGTGACCTC -3'
(F):5'- AGTCCCTGCCACAAAGCTTTG -3'
(R):5'- GTGGTGGAGATGTGCCAAATC -3'