|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: 0.128)|
|Stock #||R5575 (G1)|
|Chromosomal Location||128698956-128802894 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 128736565 bp|
|Amino Acid Change||Isoleucine to Threonine at position 157 (I157T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000014505 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000014505]|
|Predicted Effect||probably damaging
AA Change: I157T
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: I157T
|Meta Mutation Damage Score||0.7776|
|Coding Region Coverage||
|Validation Efficiency||97% (57/59)|
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'- ATTAACGAATCTGAGGCCAGCC -3'
(R):5'- GTGTCATTTAGGAGACATGTGAC -3'
(F):5'- ACCTCAGTCTGCAGCTGATTAGAG -3'
(R):5'- TTTAGGAGACATGTGACACAGGCTC -3'