|Institutional Source||Beutler Lab|
|Gene Name||hemolytic complement|
|Synonyms||He, C5, C5a|
|Is this an essential gene?||Possibly essential (E-score: 0.668)|
|Stock #||R0496 (G1)|
|Chromosomal Location||34983331-35061438 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 35013571 bp|
|Amino Acid Change||Tyrosine to Asparagine at position 1024 (Y1024N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028233 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028233]|
|Predicted Effect||probably damaging
AA Change: Y1024N
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: Y1024N
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.5293|
|Coding Region Coverage||
|Validation Efficiency||98% (99/101)|
FUNCTION: This gene encodes a component of the complement system, a part of the innate immune system that plays an important role in inflammation, host homeostasis, and host defense against pathogens. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the C5 alpha chain, C5 beta chain, C5a anaphylatoxin and C5b. The C5 protein is comprised of the alpha and beta chains, which are linked by a disulfide bridge. Cleavage of the alpha chain by a convertase enzyme results in the formation of the C5a anaphylatoxin, which possesses potent spasmogenic and chemotactic activity, and the C5b macromolecular cleavage product, a subunit of the membrane attack complex (MAC). Mice with a homozygous mutation in this gene exhibit impaired bone fracture healing and an enhanced inflammatory response in an allergic lung disease model. [provided by RefSeq, Nov 2015]
PHENOTYPE: Macrophage from mice homozygous for disruptions of this gene do not secrete complement C5.
The 2 bp deletion found in A/J and AKR/J strains is associated with susceptibility to allergen-induced bronchial hyperresponsiveness and is a candidate for QTL Abhr2.[provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hc||
(F):5'- GGCTTCTCACAGGAACTGTGTGAAC -3'
(R):5'- GCTGCTAATCAAATCCAGCTTGCTC -3'
(F):5'- TGAACTACTTGAGCTGGGAATC -3'
(R):5'- CTTCAGAATACACTGTTGGGAGC -3'