|Institutional Source||Beutler Lab|
|Gene Name||GLI-Kruppel family member GLI2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4613 (G1)|
|Chromosomal Location||118834132-119053619 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 118837511 bp (GRCm38)|
|Amino Acid Change||Valine to Alanine at position 970 (V970A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000054837 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000062483]|
AA Change: V970A
PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
AA Change: V970A
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which belongs to the C2H2-type zinc finger protein subclass of the Gli family. Members of this subclass are characterized as transcription factors which bind DNA through zinc finger motifs. These motifs contain conserved H-C links. Gli family zinc finger proteins are mediators of Sonic hedgehog (Shh) signaling and they are implicated as potent oncogenes in the embryonal carcinoma cell. The protein encoded by this gene localizes to the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. The encoded protein is associated with several phenotypes- Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit skeletal malformations, absence of floorplate and foregut, lung and anorectal defects, and altered commissural neuron guidance. Most mutants die before embryonic day 18.5. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gli2||
(F):5'- TACCACATCATCTGGCAGC -3'
(R):5'- GATCGTGTAAGCCTTCGTACCC -3'
(F):5'- AGGTCGCACTCTAGCCCTG -3'
(R):5'- TGAGCGTGCACTTCCTG -3'