|Institutional Source||Beutler Lab|
|Gene Name||hairy/enhancer-of-split related with YRPW motif 2|
|Synonyms||bHLHb32, Hesr2, CHF1, Herp1, Hrt2|
|Is this an essential gene?||Probably essential (E-score: 0.878)|
|Stock #||R6927 (G1)|
|Chromosomal Location||30832359-30842801 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 30834417 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 113 (D113E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000019924 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000019924]|
|Predicted Effect||probably benign
AA Change: D113E
PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
AA Change: D113E
|Coding Region Coverage||
|Validation Efficiency||98% (57/58)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcription factors. The encoded protein forms homo- or hetero-dimers that localize to the nucleus and interact with a histone deacetylase complex to repress transcription. Expression of this gene is induced by the Notch signal transduction pathway. Two similar and redundant genes in mouse are required for embryonic cardiovascular development, and are also implicated in neurogenesis and somitogenesis. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit cardiac hypertrophy, ventricular septal defects, pulmonary and liver congestion, and reduced preweaning viability. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hey2||
(F):5'- CATGGAGGATGTCATCACTGC -3'
(R):5'- CTGCTAAAGTTGTTGTGCATGC -3'
(F):5'- AGGATGTCATCACTGCTGCCTC -3'
(R):5'- GTGCATGCCACTTGTAGAGTATCC -3'