|Institutional Source||Beutler Lab|
|Gene Name||neurogenic differentiation 2|
|Is this an essential gene?||Probably essential (E-score: 0.842)|
|Stock #||PIT4362001 (G1)|
|Chromosomal Location||98325415-98329648 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 98327882 bp|
|Amino Acid Change||Tyrosine to Phenylalanine at position 152 (Y152F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000041373 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000041685]|
|Predicted Effect||probably damaging
AA Change: Y152F
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: Y152F
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the neuroD family of neurogenic basic helix-loop-helix (bHLH) proteins. Expression of this gene can induce transcription from neuron-specific promoters, such as the GAP-43 promoter, which contain a specific DNA sequence known as an E-box. The product of the human gene can induce neurogenic differentiation in non-neuronal cells in Xenopus embryos, and is thought to play a role in the determination and maintenance of neuronal cell fates. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation show elevated neuronal apoptosis resulting in ataxia, incoordination, elevated seizure susceptibility, and death by 35 days. Heterozygotes are moderately affected, and adults are subject to unexplained death. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Neurod2||
(F):5'- AGAGTTTAGCTGCAGGCAG -3'
(R):5'- AGAGATCCCTGAACCCACGTTG -3'
(F):5'- AGCCGGCCACCAGATTC -3'
(R):5'- TGAACCCACGTTGGCTGAG -3'