|Institutional Source||Beutler Lab|
|Gene Name||complement component 3|
|Synonyms||complement factor 3, acylation stimulating protein, Plp|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1908 (G1)|
|Chromosomal Location||57203970-57228136 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 57209489 bp|
|Amino Acid Change||Tyrosine to Histidine at position 1348 (Y1348H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000024988 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000024988] [ENSMUST00000177425]|
|Predicted Effect||probably damaging
AA Change: Y1348H
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y1348H
AA Change: Y56H
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: This gene encodes complement protein C3 which plays a central role in the classical, alternative and lectin activation pathways of the complement system. The encoded preproprotein undergoes a multi-step processing to generate various functional peptides. Mice deficient in the encoded protein fail to clear bacteria from the blood stream upon infection, display diminished airway hyperresponsiveness and lung eosinophilia upon allergen-induced pulmonary allergy, and develop severe lung injury after deposition of IgG immune complexes. Deficiency of the homolog of the encoded protein in humans was found to be associated with increased susceptibility to infections, age-related macular degeneration, and atypical hemolytic uremic syndrome. [provided by RefSeq, Mar 2015]
PHENOTYPE: Homozygous mutant mice exhibit abnormal immune responses, including increased mortality upon bacterial infection and decreased inflammatory response. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in C3||
(F):5'- AGGAACATGGTATTCTTGGCTTC -3'
(R):5'- TCTCTGCAGACCAAGCAAAATG -3'
(F):5'- CGGGCTTCTTGGCTACAAACATAG -3'
(R):5'- AATGAGGCCTTCTCTCTAACAG -3'