|Institutional Source||Beutler Lab|
|Gene Name||engrailed 2|
|Is this an essential gene?||Possibly essential (E-score: 0.656)|
|Stock #||R7687 (G1)|
|Chromosomal Location||28165694-28172166 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 28170289 bp|
|Amino Acid Change||Serine to Proline at position 277 (S277P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000036761 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000036177]|
|Predicted Effect||probably damaging
AA Change: S277P
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: S277P
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Homeobox-containing genes are thought to have a role in controlling development. In Drosophila, the 'engrailed' (en) gene plays an important role during development in segmentation, where it is required for the formation of posterior compartments. Different mutations in the mouse homologs, En1 and En2, produced different developmental defects that frequently are lethal. The human engrailed homologs 1 and 2 encode homeodomain-containing proteins and have been implicated in the control of pattern formation during development of the central nervous system. [provided by RefSeq, Jul 2008]
PHENOTYPE: This locus affects anterior-posterior cerebellar patterning. Homozygous null mutants show altered foliation pattern and perform poorly in motor learning (rotarod) tests. Heterozygotes test intermediate on rotarod. Hypomorphs show no phenotypic effects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in En2||
(F):5'- TCCTCCATGACAACCAGGTC -3'
(R):5'- ACACTGGCCTTTTGTTCACG -3'
(F):5'- TGACAACCAGGTCCCAGGTC -3'
(R):5'- AAATTATTGCATTGTTTCTCGCGGC -3'