Mrc1 - SNV Details



 Gene Information 
Gene Name Mrc1
Old Gene Names for Mrc1 Aw259686
Gene Description mannose receptor, C type 1 [Source:MGI Symbol;Acc:MGI:97142]
MGI phenotype Male homozygotes for one targeted null mutation are reported to 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.
Uniprot Name
CCDS Name
Gene GO
endosome membrane; integral to membrane; receptor activity; transmembrane signaling receptor activity; cell surface; carbohydrate binding; receptor-mediated endocytosis; plasma membrane; mannose binding
Homolog in other species MRC1
Omim http://omim.org/entry/153618
Immgen Expression
LOW(HIGH IN MYELOID GROUP, DC.LC.SK, TGD.SP )
Gnf Expression
MEDIAN/HIGH(HIGH IN RETINA, PITUITARY, DORSALROOTGANGLION, TRIGEMINAL, KIDNEY, LIVER, IMM.G1, IMM.G3, OSTEO GROUP, C2C12, UMBLICALCORD, NIH.3T3, EPITH GROUP, TRACHEA, LUNG, BLADDER, UTERUS, OVARY, ADIPOSETISSUE, ADRENALGLAND)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000026712
Chromosome 2
Coordinate 14,328,425     (Assembly: GRCm38)    
Ref Base T
Codon Change Tgg/Cgg
Var Base C
Zygosity Heterozygous
Read Depth 33
Allele Frequency
T:R0.58
C:V0.42
Amino Acid Position 1306
Amino Acid Change W->R (Tryptophan -> Arginine)
Sample ID IGL01013
Median Base Quality 37
Backgrounds Balb/C,C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 45 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.05
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000028045:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
C-type lectin C-type_lectin IPR001304 ENSMUSP00000028045 Smart 1229
1355 Description available Search pathways
C-type lectin fold C-type_lectin_fold IPR016187 ENSMUSP00000028045 Superfamily 1229
1357 Description available Search pathways
C-type lectin C-type_lectin IPR001304 ENSMUSP00000028045 Prosite_profiles 1240
1355 Description available Search pathways
C-type lectin C-type_lectin IPR001304 ENSMUSP00000028045 Pfam 1253
1356 Description available Search pathways

 Availability Details 
Availability Cryopreserved