|Institutional Source||Beutler Lab|
|Gene Name||nuclear receptor subfamily 2, group E, member 1|
|Synonyms||Mtll, Tlx, tailless, Nr2e1|
|Is this an essential gene?||Probably essential (E-score: 0.852)|
|Stock #||R7765 (G1)|
|Chromosomal Location||42561963-42583632 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 42574437 bp|
|Amino Acid Change||Cysteine to Arginine at position 60 (C60R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000019938 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000019938]|
|Predicted Effect||probably benign
AA Change: C60R
PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: C60R
|Coding Region Coverage||
|Validation Efficiency||100% (62/62)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an orphan receptor involved in retinal development. The encoded protein also regulates adult neural stem cell proliferation and may be involved in control of aggressive behavior. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygotes have small brains, hypoplasia of cerebrum and olfactory lobes, thin optic layers, reduced retinal vessels and hydrocephaly on some genetic backgrounds. Mutants do poorly in sensorimotor tests, are aggressive and females lack maternal behavior. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nr2e1||
(F):5'- ACATGCATAGGAGTGCCATC -3'
(R):5'- TAACCTGAGGTCGAGGACTG -3'
(F):5'- GCATAGGAGTGCCATCTATTTTC -3'
(R):5'- GACACTCACTTACCTGGTAATGC -3'