|Institutional Source||Beutler Lab|
|Gene Name||CD55 molecule, decay accelerating factor for complement|
|Synonyms||complement-glycosylphosphatidylinositol, Daf1, Cromer blood group, GPI-DAF, Daf-GPI|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R8010 (G1)|
|Chromosomal Location||130439027-130462744 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 130459616 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 148 (D148E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027650 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027650]|
|Predicted Effect||probably benign
AA Change: D148E
PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
AA Change: D148E
|Coding Region Coverage||
FUNCTION: This gene encodes an inhibitor of both the classical and the alternative pathways of complement activation. The encoded preproprotein undergoes post-translational processing to generate a mature polypeptide anchored to the plasma membrane via a glycosylphosphatidylinositol moiety. Erythrocytes from mice deficient in the encoded protein exhibit impaired regulation of complement activation resulting in enhanced complement deposition. Mice lacking the encoded protein exhibit enhanced susceptibility to experimentally induced myasthenia gravis. This gene is located adjacent to a closely related gene on chromosome 1. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygous mutant mice show increased susceptibility to injury following ethanol exposure, to experimental autoimmune myasthenia gravis and to acute nephrotoxic nephritis. Another allele results in an abnormal complement cascade leading to increased C3 deposition. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cd55||
(F):5'- GAGCTCTGTCAGTACGTATTCC -3'
(R):5'- AACGACTAGCTATTAGATTGCCTG -3'
(F):5'- AGACATGGTATCTCCCCA -3'
(R):5'- TGCCTGGATTATAAACTAAGTTCAC -3'