|Institutional Source||Beutler Lab|
|Gene Name||kinase D-interacting substrate 220|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R6151 (G1)|
|Chromosomal Location||24974925-25063152 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 25056909 bp (GRCm38)|
|Amino Acid Change||Serine to Proline at position 1454 (S1454P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000152683 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000066652] [ENSMUST00000220459] [ENSMUST00000222941]|
AA Change: S1484P
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: S1484P
AA Change: S1363P
PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
AA Change: S1454P
PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein that is preferentially expressed in the nervous system where it controls neuronal cell survival, differentiation into exons and dendrites, and synaptic plasticity. The encoded protein interacts with membrane receptors, cytosolic signaling components, and cytoskeletal proteins, serving as a scaffold that mediates crosstalk between the neurotrophin pathway and several other intracellular signaling pathways. Aberrant expression of this gene is associated with the onset of various neuropsychiatric disorders and neurodegenerative diseases, including Alzheimer's disease. Naturally occurring mutations in this gene are associated with a syndrome characterized by spastic paraplegia, intellectual disability, nystagmus and obesity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality. Mice heterozygous for a knock-out allele exhibit decreased dendritic complexity in the barrel somatosensory cortex and dentate gyrus neurons. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kidins220||
(F):5'- GGGTCGTCAACAATAAGCGG -3'
(R):5'- GGGGTATTATCTGACTCTTCTGTCC -3'
(F):5'- ATAAGCGGCAGATCTTCTCC -3'
(R):5'- AGACTCATCTTCATCACTGGGCAG -3'