|Institutional Source||Beutler Lab|
|Gene Name||distal-less homeobox 2|
|Synonyms||Tes-1, Dlx-2, DII A|
|Is this an essential gene?||Probably essential (E-score: 0.900)|
|Stock #||R5554 (G1)|
|Chromosomal Location||71543408-71546754 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 71545461 bp|
|Amino Acid Change||Arginine to Cysteine at position 173 (R173C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000024159 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000024159]|
|Predicted Effect||possibly damaging
AA Change: R173C
PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
AA Change: R173C
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.7643|
|Coding Region Coverage||
|Validation Efficiency||97% (73/75)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. The DLX proteins are postulated to play a role in forebrain and craniofacial development. This gene is located in a tail-to-tail configuration with another member of the gene family on the long arm of chromosome 2. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants show morphogenetic abnormalities in first and second branchial arch-derived proximal skeletal and soft tissue structures; in double mutants with a Dlx1 null allele, maxillary molar teeth are missing. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dlx2||
(F):5'- AGCATTGGGCCTAGAAGTTTAC -3'
(R):5'- GAAGGCCTCCTCAAGTCTCTAAAG -3'
(F):5'- GGGCCTAGAAGTTTACTTTGCCC -3'
(R):5'- TCAAGTCTCTAAAGGCCTCCG -3'