|Institutional Source||Beutler Lab|
|Gene Name||unc-51 like kinase 2|
|Is this an essential gene?||Possibly essential (E-score: 0.567)|
|Stock #||R1573 (G1)|
|Chromosomal Location||61775649-61855073 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 61779755 bp|
|Amino Acid Change||Arginine to Cysteine at position 992 (R992C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000004920 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000004920]|
|Predicted Effect||probably damaging
AA Change: R992C
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: R992C
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.544|
|Coding Region Coverage||
|Validation Efficiency||98% (90/92)|
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'- GTAATCGTTCTGAGCCCTGCTGTG -3'
(R):5'- ACTCTTGGCTTTACCTTGACAGCTACTA -3'
(F):5'- TGAGCCCTGCTGTGGAAAG -3'
(R):5'- tcagaaatccgcctgcc -3'