|Institutional Source||Beutler Lab|
|Gene Name||notch 2|
|Synonyms||N2, Motch B|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5156 (G1)|
|Chromosomal Location||98013527-98150361 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 98124310 bp|
|Amino Acid Change||Phenylalanine to Valine at position 1167 (F1167V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000078741 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000079812]|
|Predicted Effect||possibly damaging
AA Change: F1167V
PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: F1167V
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0948|
|Coding Region Coverage||
|Validation Efficiency||100% (52/52)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Notch family. Members of this Type 1 transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple, different domain types. Notch family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play a role in vascular, renal and hepatic development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Homozygotes for null alleles exhibit defects in embryonic development resulting in embryonic or neonatal lethality. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Notch2||
(F):5'- CAGGCTCACTTGCTTTTGG -3'
(R):5'- GCTATGGGAAAGCATGGCTG -3'
(F):5'- CACTTGCTTTTGGGTTGAACC -3'
(R):5'- CTGAAAATAAAAATGCTGGCTGC -3'