|Institutional Source||Beutler Lab|
|Gene Name||macrophage scavenger receptor 1|
|Synonyms||SR-AI, MSR-A, SR-AII, Scara1, Scvr, MRS-A|
|Is this an essential gene?||Probably non essential (E-score: 0.076)|
|Stock #||R2039 (G1)|
|Chromosomal Location||39581685-39642673 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 39589377 bp|
|Amino Acid Change||Tryptophan to Arginine at position 386 (W386R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000026021 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026021]|
|Predicted Effect||probably damaging
AA Change: W386R
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: W386R
|Meta Mutation Damage Score||0.7006|
|Coding Region Coverage||
|Validation Efficiency||96% (45/47)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the class A macrophage scavenger receptors, which include three different types (1, 2, 3) generated by alternative splicing of this gene. These receptors or isoforms are macrophage-specific trimeric integral membrane glycoproteins and have been implicated in many macrophage-associated physiological and pathological processes including atherosclerosis, Alzheimer's disease, and host defense. The isoforms type 1 and type 2 are functional receptors and are able to mediate the endocytosis of modified low density lipoproteins (LDLs). The isoform type 3 does not internalize modified LDL (acetyl-LDL) despite having the domain shown to mediate this function in the types 1 and 2 isoforms. It has an altered intracellular processing and is trapped within the endoplasmic reticulum, making it unable to perform endocytosis. The isoform type 3 can inhibit the function of isoforms type 1 and type 2 when co-expressed, indicating a dominant negative effect and suggesting a mechanism for regulation of scavenger receptor activity in macrophages. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal uptake and degradation of acetylated low density lipoproteins by macrophages, increased interleukin-12 secretion in response to CpG oligodeoxynucleotide administration, and increased bacterial and viral infection induced morbidity/mortality. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Msr1||
(F):5'- GCTTTCAAGAATTGGGACGATAGAG -3'
(R):5'- AATACTCGGGTCCAACCACG -3'
(F):5'- AGACAGTGCTGCACATGC -3'
(R):5'- GGTCCAACCACGACCCCTG -3'