|Institutional Source||Beutler Lab|
|Gene Name||serum amyloid P-component|
|Is this an essential gene?||Probably non essential (E-score: 0.068)|
|Stock #||R0040 (G1)|
|Chromosomal Location||172893961-172895041 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 172894456 bp|
|Amino Acid Change||Tyrosine to Histidine at position 108 (Y108H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027824 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027824]|
|Predicted Effect||probably benign
AA Change: Y108H
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: Y108H
|Meta Mutation Damage Score||0.1268|
|Coding Region Coverage||
|Validation Efficiency||100% (88/88)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a glycoprotein, belonging to the pentraxin family of proteins, which has a characteristic pentameric organization. These family members have considerable sequence homology which is thought to be the result of gene duplication. The binding of the encoded protein to proteins in the pathological amyloid cross-beta fold suggests its possible role as a chaperone. This protein is also thought to control the degradation of chromatin. It has been demonstrated that this protein binds to apoptotic cells at an early stage, which raises the possibility that it is involved in dealing with apoptotic cells in vivo. [provided by RefSeq, Sep 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased antibody productions, increased autoimmune antibodies, reduced amyloidosis and glomerulonephrosis depending on strain background. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Apcs||
(F):5'- AGAGTGAATTCTGCTGCCTTGACC -3'
(R):5'- CTGTGTTTCCGAACCTACAGTGACC -3'
(F):5'- AGGACTGTGACCTTTGAAACC -3'
(R):5'- GAACCTACAGTGACCTTTCCCG -3'