|Institutional Source||Beutler Lab|
|Gene Name||ventral anterior homeobox 2|
|Is this an essential gene?||Possibly essential (E-score: 0.735)|
|Stock #||R1006 (G1)|
|Chromosomal Location||83711264-83738313 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 83737777 bp|
|Amino Acid Change||Serine to Proline at position 225 (S225P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000035976 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000037807]|
|Predicted Effect||probably damaging
AA Change: S225P
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: S225P
|Meta Mutation Damage Score||0.2961|
|Coding Region Coverage||
|Validation Efficiency||100% (43/43)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a homeobox protein and is almost exclusively expressed in the ventral portion of the retina during development. In mouse studies, this gene was found to be required for the correct formation of the optic fissure and other aspects of retinal development. [provided by RefSeq, Sep 2008]
PHENOTYPE: Homozygous null mutants for one allele show incomplete closure of optic fissure leading to coloboma, the frequency of which is strongly influenced by genetic background. Homozygous null mutants for 2 different alleles have abnormal projections of ventralretinal ganglion cells. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Vax2||
(F):5'- ACTTGACGCAGCTCCTCAGTACAG -3'
(R):5'- AAGTGTCACACAGGGATGGGACTC -3'
(F):5'- cccctttaccctaccccac -3'
(R):5'- GATGGGACTCTTAAATGTCAGC -3'