|Institutional Source||Beutler Lab|
|Gene Name||c-mer proto-oncogene tyrosine kinase|
|Synonyms||Nyk, nmf12, Tyro 12, Eyk, Mer|
|Is this an essential gene?||Probably non essential (E-score: 0.145)|
|Stock #||R0628 (G1)|
|Chromosomal Location||128698956-128802894 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 128738313 bp (GRCm38)|
|Amino Acid Change||Asparagine to Isoleucine at position 229 (N229I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000014505 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000014505]|
AA Change: N229I
PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
AA Change: N229I
|Meta Mutation Damage Score||0.2661|
|Coding Region Coverage||
|Validation Efficiency||98% (58/59)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the MER/AXL/TYRO3 receptor kinase family and encodes a transmembrane protein with two fibronectin type-III domains, two Ig-like C2-type (immunoglobulin-like) domains, and one tyrosine kinase domain. Mutations in this gene have been associated with disruption of the retinal pigment epithelium (RPE) phagocytosis pathway and onset of autosomal recessive retinitis pigmentosa (RP). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations show increased sensitivity to LPS-induced shock, defective phagocytosis of apoptotic cells, lupus-like autoimmunity, degeneration of photoreceptors, decreased platelet aggregation and protection from induced pulmonary thromboembolism and thrombosis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mertk||
(F):5'- GGTTAAAGCATACTCTGCCCTGCTC -3'
(R):5'- TGTCAAGGGAGGCAACTGGACATC -3'
(F):5'- TACTCTGCCCTGCTCTCTCTG -3'
(R):5'- CTTCTTGATTGACCACTGTTGG -3'