|Institutional Source||Beutler Lab|
|Gene Name||short stature homeobox 2|
|Synonyms||Prx3, 6330543G17Rik, Og12x|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6528 (G1)|
|Chromosomal Location||66971727-66981771 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 66981285 bp|
|Amino Acid Change||Arginine to Leucine at position 91 (R91L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029422 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029422]|
|Predicted Effect||probably benign
AA Change: R91L
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: R91L
|Coding Region Coverage||
|Validation Efficiency||98% (55/56)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the homeobox family of genes that encode proteins containing a 60-amino acid residue motif that represents a DNA binding domain. Homeobox genes have been characterized extensively as transcriptional regulators involved in pattern formation in both invertebrate and vertebrate species. Several human genetic disorders are caused by aberrations in human homeobox genes. This locus represents a pseudoautosomal homeobox gene that is thought to be responsible for idiopathic short stature, and it is implicated in the short stature phenotype of Turner syndrome patients. This gene is considered to be a candidate gene for Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]
PHENOTYPE: Homozygous null mice display incomplete penetrance of embryonic lethality during organogenesis and incomplete clefting of the anterior part of the palate. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Shox2||
(F):5'- ATCCCGGTATCTCCCAAAGCTG -3'
(R):5'- AGAAGGAGGCCATCACGTAC -3'
(F):5'- CAGGGCCCTCTGCGATG -3'
(R):5'- GCCATCACGTACCGGGAG -3'