|Institutional Source||Beutler Lab|
|Gene Name||tweety family member 2|
|Is this an essential gene?||Probably non essential (E-score: 0.062)|
|Stock #||R7957 (G1)|
|Chromosomal Location||114675431-114720977 bp(+) (GRCm38)|
|Type of Mutation||splice site (3 bp from exon)|
|DNA Base Change (assembly)||A to G at 114708864 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000037821 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000045779]|
|Predicted Effect||probably null
|Coding Region Coverage||
|Validation Efficiency||98% (46/47)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tweety family of proteins. Members of this family function as chloride anion channels. The encoded protein functions as a calcium(2+)-activated large conductance chloride(-) channel, and may play a role in kidney tumorigenesis. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ttyh2||
(F):5'- TTCTAGGGAAAGGCCTCTCTG -3'
(R):5'- GTTCCTTTCATAGGGTGCCC -3'
(F):5'- GAAAGGCCTCTCTGCACAG -3'
(R):5'- TGCCCCTCAGCAGCCATC -3'