|Institutional Source||Beutler Lab|
|Gene Name||mesenchyme homeobox 2|
|Synonyms||Gax, Mox2, Mox-2|
|Is this an essential gene?||Possibly essential (E-score: 0.740)|
|Stock #||R2104 (G1)|
|Chromosomal Location||37108540-37179534 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 37167477 bp|
|Amino Acid Change||Threonine to Alanine at position 226 (T226A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000043587 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000041183]|
|Predicted Effect||probably damaging
AA Change: T226A
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: T226A
|Meta Mutation Damage Score||0.208|
|Coding Region Coverage||
|Validation Efficiency||100% (80/80)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a subfamily of non-clustered, diverged, antennapedia-like homeobox-containing genes. The encoded protein may play a role in the regulation of vertebrate limb myogenesis. Mutations in the related mouse protein may be associated with craniofacial and/or skeletal abnormalities, in addition to neurovascular dysfunction observed in Alzheimer's disease. [provided by RefSeq, Jul 2008]
PHENOTYPE: Several mutations that inactivate the gene result in mild defects of rib and vertebrae development. Inactivation in conjunction with a null mutation in a related homeobox gene results in more severe defects stemming from impaired somite formation, patterning, and differentiation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Meox2||
(F):5'- GCATGACTGTGTTAACACCAATC -3'
(R):5'- GGGAGTATCAACATCACAAAGC -3'
(F):5'- GACTGTGTTAACACCAATCTTCTTG -3'
(R):5'- GGAGTATCAACATCACAAAGCATTCC -3'