Incidental Mutation 'R3949:Apcs'
ID 307808
Institutional Source Beutler Lab
Gene Symbol Apcs
Ensembl Gene ENSMUSG00000026542
Gene Name amyloid P component, serum
Synonyms Sap
MMRRC Submission 040929-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R3949 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 172721528-172722516 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 172722259 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 29 (F29S)
Ref Sequence ENSEMBL: ENSMUSP00000027824 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027824]
AlphaFold P12246
Predicted Effect probably damaging
Transcript: ENSMUST00000027824
AA Change: F29S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027824
Gene: ENSMUSG00000026542
AA Change: F29S

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
PTX 21 224 2.27e-132 SMART
Meta Mutation Damage Score 0.6328 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 100% (47/47)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb2 A T 13: 8,620,455 (GRCm39) M314L probably damaging Het
Arfgef1 CAGAG CAG 1: 10,212,811 (GRCm39) probably null Het
Avl9 T C 6: 56,705,650 (GRCm39) probably null Het
Ccdc38 A G 10: 93,386,081 (GRCm39) M66V probably damaging Het
Cfap46 T C 7: 139,258,467 (GRCm39) K269E probably benign Het
Chrdl2 A C 7: 99,678,412 (GRCm39) E328A possibly damaging Het
D430041D05Rik T C 2: 104,087,713 (GRCm39) N421S probably benign Het
Dbndd1 G T 8: 124,233,473 (GRCm39) Q207K probably benign Het
Disc1 A G 8: 125,814,874 (GRCm39) E246G probably damaging Het
Dyrk4 A G 6: 126,862,268 (GRCm39) I408T probably damaging Het
Entpd7 G A 19: 43,679,597 (GRCm39) R50Q probably benign Het
Fan1 C A 7: 64,021,292 (GRCm39) E591* probably null Het
Fpr1 C A 17: 18,097,191 (GRCm39) C266F probably benign Het
Gata4 C T 14: 63,478,146 (GRCm39) R151H possibly damaging Het
Gipr T C 7: 18,891,354 (GRCm39) N441S probably benign Het
Ino80d G T 1: 63,113,662 (GRCm39) Q263K probably benign Het
Ipo13 A G 4: 117,758,239 (GRCm39) I708T probably benign Het
Iqsec3 A T 6: 121,364,783 (GRCm39) Y835* probably null Het
Kctd8 C T 5: 69,498,617 (GRCm39) G10S probably benign Het
Lamb1 A C 12: 31,332,648 (GRCm39) K257Q probably damaging Het
Lcp1 A G 14: 75,443,569 (GRCm39) N195S possibly damaging Het
Or4k48 A T 2: 111,475,871 (GRCm39) I157K possibly damaging Het
Or5b121 T C 19: 13,507,384 (GRCm39) S160P probably damaging Het
Paxbp1 T C 16: 90,840,905 (GRCm39) D113G probably damaging Het
Pcdhb7 T C 18: 37,476,141 (GRCm39) S426P probably benign Het
Pcnx4 A G 12: 72,603,076 (GRCm39) D446G probably benign Het
Pkd1 T A 17: 24,797,011 (GRCm39) probably benign Het
Pld2 A G 11: 70,444,180 (GRCm39) D492G probably benign Het
Ranbp17 G A 11: 33,429,189 (GRCm39) A352V probably benign Het
Rasgrf1 A C 9: 89,863,797 (GRCm39) probably benign Het
Ryr3 C G 2: 112,506,218 (GRCm39) R3443P probably damaging Het
Serpinb10 T A 1: 107,468,636 (GRCm39) L170H probably damaging Het
Sfxn4 A G 19: 60,840,501 (GRCm39) Y165H probably damaging Het
Slc32a1 C T 2: 158,453,152 (GRCm39) probably benign Het
Slco5a1 A T 1: 13,059,833 (GRCm39) V296D probably damaging Het
Syn2 T A 6: 115,204,290 (GRCm39) probably null Het
Tbx2 C T 11: 85,729,101 (GRCm39) Q495* probably null Het
Trav6-1 G A 14: 52,875,993 (GRCm39) V8M probably benign Het
Usp7 A T 16: 8,534,428 (GRCm39) N46K probably damaging Het
Vmn2r58 A T 7: 41,513,348 (GRCm39) F432I probably benign Het
Vmn2r99 T C 17: 19,599,252 (GRCm39) M312T probably benign Het
Washc2 T C 6: 116,185,165 (GRCm39) probably benign Het
Yju2b A G 8: 84,985,453 (GRCm39) V272A probably benign Het
Other mutations in Apcs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01590:Apcs APN 1 172,722,034 (GRCm39) missense probably damaging 0.97
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
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
Predicted Primers PCR Primer
(F):5'- CGATGTATAGGCTGTATTCTCCAAC -3'
(R):5'- AAGCATGGACAAGCTACTGC -3'

Sequencing Primer
(F):5'- ATAGGCTGTATTCTCCAACTTTTTC -3'
(R):5'- CTTTGGATGTTTGTCTTCACCAG -3'
Posted On 2015-04-17