|Institutional Source||Beutler Lab|
|Gene Name||macrophage receptor with collagenous structure|
|Is this an essential gene?||Possibly non essential (E-score: 0.251)|
|Stock #||T0722 (G3) of strain 711|
|Chromosomal Location||120474538-120505024 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 120474712 bp|
|Amino Acid Change||Tryptophan to Arginine at position 502 (W502R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027639 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027639]|
|Predicted Effect||probably damaging
AA Change: W502R
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: W502R
|Meta Mutation Damage Score||0.25|
|Coding Region Coverage||
|Validation Efficiency||95% (42/44)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the class A scavenger receptor family and is part of the innate antimicrobial immune system. The protein may bind both Gram-negative and Gram-positive bacteria via an extracellular, C-terminal, scavenger receptor cysteine-rich (SRCR) domain. In addition to short cytoplasmic and transmembrane domains, there is an extracellular spacer domain and a long, extracellular collagenous domain. The protein may form a trimeric molecule by the association of the collagenous domains of three identical polypeptide chains. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele show altered spleen marginal zone architecture and impaired IgM responses to a pneumococcal polysaccharide vaccine. Mice homozygous for another null allele show increased susceptibility to bacterial pneumonia and enhanced inflammatory responses to inhaled particles. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Marco||
(F):5'- CGCTAGTTCAGGGACATTCAACCAC -3'
(R):5'- TTAGAGCAGAGCTGACTGCCATCC -3'
(F):5'- CATCAGATCCCCACTTGAGC -3'
(R):5'- CACGCATACTGTGTGGATTAAG -3'