|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: 0.158)|
|Stock #||R7883 (G1)|
|Chromosomal Location||128698956-128802894 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 128776345 bp|
|Amino Acid Change||Isoleucine to Valine at position 499 (I499V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000014505 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000014505]|
|Predicted Effect||probably benign
AA Change: I499V
PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
AA Change: I499V
|Coding Region Coverage||
|Validation Efficiency||99% (79/80)|
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'- ACAAAGTGAGAATGATCTGCGTTC -3'
(R):5'- GAGAGGCGCTATTATCTGTTACAAC -3'
(F):5'- GAGAATGATCTGCGTTCATTGCTCAC -3'
(R):5'- CTCAGCTCTATGTAGACCAGATTGG -3'