|Institutional Source||Beutler Lab|
|Gene Name||mannose-binding lectin (protein C) 2|
|Synonyms||MBL-C, MBL, MBP-C|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R2174 (G1)|
|Chromosomal Location||30232928-30239685 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 30234012 bp|
|Amino Acid Change||Cysteine to Tyrosine at position 11 (C11Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025797 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025797]|
|Predicted Effect||possibly damaging
AA Change: C11Y
PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: C11Y
|Meta Mutation Damage Score||0.0616|
|Coding Region Coverage||
|Validation Efficiency||99% (73/74)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the soluble mannose-binding lectin or mannose-binding protein found in serum. The protein encoded belongs to the collectin family and is an important element in the innate immune system. The protein recognizes mannose and N-acetylglucosamine on many microorganisms, and is capable of activating the classical complement pathway. Deficiencies of this gene have been associated with susceptibility to autoimmune and infectious diseases. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mbl2||
(F):5'- CCACGCAGTATCACAAGGAATG -3'
(R):5'- GGGTGCACACTCACTCACAC -3'
(F):5'- GGAATGCTTGATTTTCAAAATACCC -3'
(R):5'- AGAGGTCCTGAGTTCAATTCCCAG -3'