|Institutional Source||Beutler Lab|
|Gene Name||zinc finger protein of the cerebellum 2|
|Synonyms||odd-paired homolog, GENA 29, Ku|
|Is this an essential gene?||Probably essential (E-score: 0.908)|
|Stock #||R6930 (G1)|
|Chromosomal Location||122475435-122479852 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 122476457 bp|
|Amino Acid Change||Aspartic acid to Valine at position 261 (D261V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000075283 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000075888]|
|Predicted Effect||probably damaging
AA Change: D261V
PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
AA Change: D261V
|Coding Region Coverage||
|Validation Efficiency||100% (63/63)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This protein functions as a transcriptional repressor and may regulate tissue specific expression of dopamine receptor D1. Expansion of an alanine repeat in the C-terminus of the encoded protein and other mutations in this gene cause holoprosencephaly type 5. Holoprosencephaly is the most common structural anomaly of the human brain. A polyhistidine tract polymorphism in this gene may be associated with increased risk of neural tube defects. This gene is closely linked to a gene encoding zinc finger protein of the cerebellum 5, a related family member on chromosome 13. [provided by RefSeq, Jul 2016]
PHENOTYPE: Defects in neurulation and forebrain development have been identified in both targeted and ENU induced homozygous mutants. Death occurs perinatally in the targeted mouse and during midgestation in the ENU mouse. Mice homozygous for a knock-down allele exhibit cognitive and social behavior defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Zic2||
(F):5'- GTGCTCAATGGGCAAATGC -3'
(R):5'- ACCAGTTTGTATTTGGCCTTAAAGG -3'
(F):5'- CGGAGCAATACCGCCAAGTG -3'
(R):5'- TGGCCTTAAAGGGTTTGCC -3'