Incidental Mutation 'IGL01590:Apcs'
ID 91560
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Apcs
Ensembl Gene ENSMUSG00000026542
Gene Name amyloid P component, serum
Synonyms Sap
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # IGL01590
Quality Score
Status
Chromosome 1
Chromosomal Location 172721528-172722516 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 172722034 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 104 (G104D)
Ref Sequence ENSEMBL: ENSMUSP00000027824 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027824]
AlphaFold P12246
Predicted Effect probably damaging
Transcript: ENSMUST00000027824
AA Change: G104D

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000027824
Gene: ENSMUSG00000026542
AA Change: G104D

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
PTX 21 224 2.27e-132 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik T A 2: 19,482,590 (GRCm39) probably benign Het
Adgrb2 T G 4: 129,907,606 (GRCm39) probably benign Het
Atp10b G A 11: 43,063,548 (GRCm39) R161H probably benign Het
Cep250 A T 2: 155,834,237 (GRCm39) Q2054L possibly damaging Het
Dennd6a T G 14: 26,340,507 (GRCm39) V207G probably benign Het
Ehbp1 C A 11: 22,045,611 (GRCm39) D688Y possibly damaging Het
Fam83a C A 15: 57,873,173 (GRCm39) S334Y probably damaging Het
Fam83e T A 7: 45,373,360 (GRCm39) F242Y probably null Het
Fnip1 A T 11: 54,384,126 (GRCm39) D341V probably damaging Het
Gpatch3 A G 4: 133,308,028 (GRCm39) probably benign Het
Gpc2 C A 5: 138,272,640 (GRCm39) V558F probably damaging Het
H2-M10.6 A G 17: 37,123,641 (GRCm39) N112D probably benign Het
Hs6st1 A T 1: 36,142,785 (GRCm39) D240V probably damaging Het
Inpp5f T A 7: 128,266,031 (GRCm39) probably null Het
Itga8 G T 2: 12,165,144 (GRCm39) H822N probably damaging Het
Kif20b T A 19: 34,932,126 (GRCm39) N1263K possibly damaging Het
Krt28 A G 11: 99,265,220 (GRCm39) probably null Het
Muc5ac A T 7: 141,352,630 (GRCm39) M706L probably benign Het
Or1j12 A T 2: 36,343,004 (GRCm39) M136L probably benign Het
Or52h9 A C 7: 104,202,782 (GRCm39) I219L probably benign Het
Prox2 A G 12: 85,134,845 (GRCm39) W479R probably damaging Het
Rps19 A T 7: 24,587,881 (GRCm39) D152V probably damaging Het
Slc20a1 G A 2: 129,051,146 (GRCm39) probably benign Het
Slc7a2 C T 8: 41,367,137 (GRCm39) P564S probably damaging Het
Slco1a5 C A 6: 142,196,045 (GRCm39) M319I probably benign Het
Spmip2 A C 3: 79,356,647 (GRCm39) N150T probably damaging Het
Spopfm3 G A 3: 94,105,674 (GRCm39) probably benign Het
Tanc1 A G 2: 59,615,817 (GRCm39) T275A probably benign Het
Tenm3 A G 8: 48,681,837 (GRCm39) S2598P probably damaging Het
Tiparp G A 3: 65,439,397 (GRCm39) E56K probably benign Het
Trpm5 G A 7: 142,636,471 (GRCm39) R489C probably damaging Het
Vmn2r84 C A 10: 130,221,964 (GRCm39) G752V probably damaging Het
Wnt5b T A 6: 119,417,515 (GRCm39) T130S possibly damaging Het
Other mutations in Apcs
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0040:Apcs UTSW 1 172,722,023 (GRCm39) missense probably benign
R0040:Apcs UTSW 1 172,722,023 (GRCm39) missense probably benign
R0865:Apcs UTSW 1 172,721,782 (GRCm39) missense probably benign 0.30
R1691:Apcs UTSW 1 172,722,160 (GRCm39) missense probably damaging 1.00
R2158:Apcs UTSW 1 172,722,100 (GRCm39) missense probably damaging 1.00
R3411:Apcs UTSW 1 172,722,130 (GRCm39) missense probably damaging 1.00
R3949:Apcs UTSW 1 172,722,259 (GRCm39) missense probably damaging 1.00
R4636:Apcs UTSW 1 172,721,989 (GRCm39) missense probably damaging 1.00
R6911:Apcs UTSW 1 172,721,752 (GRCm39) missense probably benign 0.02
R7218:Apcs UTSW 1 172,722,231 (GRCm39) missense possibly damaging 0.85
R8143:Apcs UTSW 1 172,721,900 (GRCm39) missense probably damaging 1.00
R8287:Apcs UTSW 1 172,721,814 (GRCm39) missense possibly damaging 0.66
R8867:Apcs UTSW 1 172,722,004 (GRCm39) missense possibly damaging 0.94
R9005:Apcs UTSW 1 172,721,776 (GRCm39) missense probably benign 0.41
R9132:Apcs UTSW 1 172,722,061 (GRCm39) missense probably damaging 0.97
R9329:Apcs UTSW 1 172,722,391 (GRCm39) missense probably benign 0.00
RF005:Apcs UTSW 1 172,721,809 (GRCm39) missense probably damaging 1.00
RF024:Apcs UTSW 1 172,721,809 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09