|Institutional Source||Beutler Lab|
|Gene Name||CD93 antigen|
|Synonyms||C1qrp, AA4.1, Ly68, 6030404G09Rik, C1qr1|
|Is this an essential gene?||Probably non essential (E-score: 0.071)|
|Stock #||R5940 (G1)|
|Chromosomal Location||148436640-148443563 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 148442232 bp|
|Amino Acid Change||Isoleucine to Asparagine at position 398 (I398N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000096876 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000099269]|
|Predicted Effect||probably benign
AA Change: I398N
PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: I398N
|Meta Mutation Damage Score||0.104|
|Coding Region Coverage||
|Validation Efficiency||96% (88/92)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cell-surface glycoprotein and type I membrane protein that was originally identified as a myeloid cell-specific marker. The encoded protein was once thought to be a receptor for C1q, but now is thought to instead be involved in intercellular adhesion and in the clearance of apoptotic cells. The intracellular cytoplasmic tail of this protein has been found to interact with moesin, a protein known to play a role in linking transmembrane proteins to the cytoskeleton and in the remodelling of the cytoskeleton. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants have a defect in clearance of apoptotic cells. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cd93||
(F):5'- CAGTGCCCCTGCTACAAAAG -3'
(R):5'- TAGCCAAGTGCACTGTGTGG -3'
(F):5'- TGCTACAAAAGACCCCATTGG -3'
(R):5'- GATATAGATGAGTGCCAGGACTCCC -3'