|Institutional Source||Beutler Lab|
|Gene Name||jagged 2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6968 (G1)|
|Chromosomal Location||112907819-112929776 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 112914258 bp|
|Amino Acid Change||Glutamic Acid to Lysine at position 592 (E592K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000075224 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000075827]|
|Predicted Effect||probably benign
AA Change: E592K
PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
AA Change: E592K
|Coding Region Coverage||
|Validation Efficiency||97% (57/59)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Notch signaling pathway is an intercellular signaling mechanism that is essential for proper embryonic development. Members of the Notch gene family encode transmembrane receptors that are critical for various cell fate decisions. The protein encoded by this gene is one of several ligands that activate Notch and related receptors. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation die perinatally with craniofacial defects, fused digits, and increased numbers of sensory hair cells in the cochlea. Homozygotes for a spontaneous mutation exhibit fused digits and sometimes tail kinks. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Jag2||
(F):5'- GTCGTCAATGTCTGAGGGAG -3'
(R):5'- CTTGAGGGTGACTACTACTGCG -3'
(F):5'- AGGATGGGTGAGCTGTCCC -3'
(R):5'- GCCTGCCCAGAAGACTTTG -3'