|Institutional Source||Beutler Lab|
|Gene Name||nuclear receptor subfamily 4, group A, member 3|
|Synonyms||Nor1, TEC, MINOR, NOR-1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7348 (G1)|
|Chromosomal Location||48045153-48086447 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 48051290 bp|
|Amino Acid Change||Serine to Alanine at position 15 (S15A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030025 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030025]|
|Predicted Effect||possibly damaging
AA Change: S15A
PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
AA Change: S15A
AA Change: S44A
|Coding Region Coverage||
|Validation Efficiency||99% (80/81)|
FUNCTION: This gene encodes a member of the NR4A subfamily of nuclear hormone receptors that bind to DNA and modulate gene expression. The encoded protein has been implicated in T and B lymphocyte apoptosis, and immune cell proliferation. Mice lacking the encoded protein exhibit partial bidirectional circling behavior and inner ear dysfunction. Disruption of this gene in mice also results in defective hippocampal axonal growth and postnatal neuronal cell death. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit defects in the semicircular canals of the inner ear and bidirectional circling behavior. Mice homozygous for another null allele display embryonic lethality with impaired cell migration during gastrulation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nr4a3||
(F):5'- TAGGAGCATTCAGTCTTTGCCAG -3'
(R):5'- ATCTTGATCAAAGGCCGAGGC -3'
(F):5'- CATTCAGTCTTTGCCAGCAGGTG -3'
(R):5'- CCAGAAGGCGGCATTTGGTAC -3'