|Institutional Source||Beutler Lab|
|Gene Name||mannose receptor, C type 2|
|Synonyms||Endo180, uPARAP, novel lectin|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R8042 (G1)|
|Chromosomal Location||105292643-105351139 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 105348355 bp|
|Amino Acid Change||Valine to Alanine at position 1312 (V1312A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000097909 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021038] [ENSMUST00000100335]|
|Predicted Effect||probably benign
|Predicted Effect||probably damaging
AA Change: V1312A
PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: V1312A
|Meta Mutation Damage Score||0.5565|
|Coding Region Coverage||
|Validation Efficiency||100% (46/46)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the mannose receptor family of proteins that contain a fibronectin type II domain and multiple C-type lectin-like domains. The encoded protein plays a role in extracellular matrix remodeling by mediating the internalization and lysosomal degradation of collagen ligands. Expression of this gene may play a role in the tumorigenesis and metastasis of several malignancies including breast cancer, gliomas and metastatic bone disease. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygous mice are visibly normal, viable and have no reproductive defects. Mouse embryonic fibroblasts derived from null mice exhibit decreased migration while bone marrow-derived macrophages exhibit increased migration. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mrc2||
(F):5'- ATATCCCACGGTCCACAAGTG -3'
(R):5'- TCTAGGTGGGAGGCGATAAC -3'
(F):5'- GGTCCACAAGTGCTGAGATTCAC -3'
(R):5'- GGAGGCGATAACCACGATCC -3'