|Institutional Source||Beutler Lab|
|Gene Name||unc-51 like kinase 2|
|Is this an essential gene?||Possibly essential (E-score: 0.533)|
|Stock #||R1076 (G1)|
|Chromosomal Location||61775649-61855073 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 61819309 bp|
|Amino Acid Change||Histidine to Tyrosine at position 358 (H358Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000004920 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000004920]|
|Predicted Effect||probably damaging
AA Change: H358Y
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: H358Y
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.174|
|Coding Region Coverage||
|Validation Efficiency||100% (39/39)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is similar to a serine/threonine kinase in C. elegans which is involved in axonal elongation. The structure of this protein is similar to the C. elegans protein in that both proteins have an N-terminal kinase domain, a central proline/serine rich (PS) domain, and a C-terminal (C) domain. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Dec 2008]
PHENOTYPE: Homozygous mutation of this gene results in an increased anxiety-like response in males. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ulk2||
(F):5'- ACCTGGATTCCCTCCCAAACTTACT -3'
(R):5'- GCAAGGCCATGAGCTGGGAC -3'
(F):5'- acacccataataatcccaggac -3'
(R):5'- aaaaaaCTTAGCTTCTCCAAAGTTTC -3'