|Institutional Source||Beutler Lab|
|Gene Name||mannose receptor, C type 1|
|Is this an essential gene?||Probably non essential (E-score: 0.111)|
|Stock #||R1428 (G1)|
|Chromosomal Location||14229392-14332057 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 14315263 bp|
|Amino Acid Change||Threonine to Serine at position 1003 (T1003S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028045 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028045]|
CRYSTAL STRUCTURE OF THE CYSTEINE RICH DOMAIN OF MANNOSE RECEPTOR [X-RAY DIFFRACTION]
Crystal structure of the cysteine rich domain of mannose receptor complexed with Acetylgalactosamine-4-sulfate [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE CYSTEINE-RICH DOMAIN OF MANNOSE RECEPTOR COMPLEXED WITH 3-SO4-LEWIS(X) [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE CYSTEINE-RICH DOMAIN OF MANNOSE RECEPTOR COMPLEXED WITH 3-SO4-LEWIS(A) [X-RAY DIFFRACTION]
|Predicted Effect||probably benign
AA Change: T1003S
PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
AA Change: T1003S
|Meta Mutation Damage Score||0.1155|
|Coding Region Coverage||
|Validation Efficiency||98% (56/57)|
|MGI Phenotype||Strain: 2656742; 2448258
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The recognition of complex carbohydrate structures on glycoproteins is an important part of several biological processes, including cell-cell recognition, serum glycoprotein turnover, and neutralization of pathogens. The protein encoded by this gene is a type I membrane receptor that mediates the endocytosis of glycoproteins by macrophages. The protein has been shown to bind high-mannose structures on the surface of potentially pathogenic viruses, bacteria, and fungi so that they can be neutralized by phagocytic engulfment.[provided by RefSeq, Sep 2015]
PHENOTYPE: Male homozygotes for one targeted null mutation die in utero. Heterozygous females clear lutropin from the circulation more slowly and have smaller litters due to reduced implantation. Another targeted knockout is viable and homozygotes are less susceptible to parasitic infection. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mrc1||
(F):5'- CGGGACACAACGTTCCCAACTATG -3'
(R):5'- TTCTACTGCTCACTGCCAACGAAG -3'
(F):5'- acgttcccaactatgtgcag -3'
(R):5'- AAACATCCCTCCTCTAAGGTTG -3'