|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: 0.147)|
|Stock #||R5605 (G1)|
|Chromosomal Location||128698956-128802894 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 128738307 bp|
|Amino Acid Change||Valine to Alanine at position 227 (V227A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000014505 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000014505]|
|Predicted Effect||probably benign
AA Change: V227A
PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
AA Change: V227A
|Meta Mutation Damage Score||0.1197|
|Coding Region Coverage||
|Validation Efficiency||100% (55/55)|
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'- GTGTCCTAGAAAGCTGGCTG -3'
(R):5'- GTTGGGGTATAGCAATCGGC -3'
(F):5'- GTGACAATTGGCTATGTCAGACC -3'
(R):5'- GCAATCGGCACCAAAGTTTTGTC -3'