Incidental Mutation 'R8287:Apcs'
| ID |
638483 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Apcs
|
| Ensembl Gene |
ENSMUSG00000026542 |
| Gene Name |
amyloid P component, serum |
| Synonyms |
Sap |
| MMRRC Submission |
067709-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R8287 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
172721528-172722516 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 172721814 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 177
(L177F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027824
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027824]
|
| AlphaFold |
P12246 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027824
AA Change: L177F
PolyPhen 2
Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000027824
Gene: ENSMUSG00000026542
AA Change: L177F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
PTX
|
21 |
224 |
2.27e-132 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (27/27) |
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
A |
G |
12: 80,220,852 (GRCm39) |
|
probably null |
Het |
| Arsa |
G |
T |
15: 89,357,593 (GRCm39) |
H457N |
probably benign |
Het |
| Atg10 |
A |
T |
13: 91,170,799 (GRCm39) |
|
probably benign |
Het |
| Blnk |
T |
C |
19: 40,917,735 (GRCm39) |
Y419C |
probably damaging |
Het |
| Cdon |
A |
G |
9: 35,375,225 (GRCm39) |
D417G |
probably benign |
Het |
| Cntnap4 |
T |
C |
8: 113,585,775 (GRCm39) |
S1133P |
probably damaging |
Het |
| Cops2 |
T |
A |
2: 125,701,037 (GRCm39) |
|
probably benign |
Het |
| Cyp2c40 |
T |
A |
19: 39,755,899 (GRCm39) |
M472L |
probably damaging |
Het |
| Dlg5 |
T |
A |
14: 24,214,453 (GRCm39) |
Q379L |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,534,560 (GRCm39) |
I2019V |
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,866,157 (GRCm39) |
Y1241C |
unknown |
Het |
| Dock8 |
T |
C |
19: 25,107,825 (GRCm39) |
Y852H |
probably damaging |
Het |
| Fcrlb |
T |
A |
1: 170,739,653 (GRCm39) |
Y83F |
probably damaging |
Het |
| Foxj2 |
G |
A |
6: 122,805,226 (GRCm39) |
A33T |
possibly damaging |
Het |
| Gcnt2 |
T |
C |
13: 41,014,108 (GRCm39) |
F93S |
probably damaging |
Het |
| Gm14180 |
A |
G |
11: 99,625,068 (GRCm39) |
S17P |
unknown |
Het |
| Gucy1b2 |
T |
C |
14: 62,649,265 (GRCm39) |
Q437R |
probably damaging |
Het |
| Hyou1 |
A |
G |
9: 44,299,430 (GRCm39) |
D707G |
probably benign |
Het |
| Ncam2 |
A |
G |
16: 81,323,883 (GRCm39) |
Q509R |
probably benign |
Het |
| Npsr1 |
T |
C |
9: 24,201,258 (GRCm39) |
V214A |
probably damaging |
Het |
| Or8g51 |
T |
C |
9: 38,609,633 (GRCm39) |
T14A |
probably benign |
Het |
| Slc50a1 |
G |
A |
3: 89,177,710 (GRCm39) |
|
probably null |
Het |
| Speg |
T |
A |
1: 75,398,880 (GRCm39) |
M2109K |
probably benign |
Het |
| Stxbp5 |
T |
C |
10: 9,660,129 (GRCm39) |
H722R |
probably benign |
Het |
| Vmn2r19 |
A |
G |
6: 123,308,588 (GRCm39) |
N555S |
probably damaging |
Het |
| Xrcc1 |
G |
A |
7: 24,271,703 (GRCm39) |
R562H |
probably damaging |
Het |
| Zscan18 |
T |
G |
7: 12,509,298 (GRCm39) |
K67N |
unknown |
Het |
|
| Other mutations in Apcs |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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'- AGTGAATTCTGCTGCCTTGAC -3'
(R):5'- ATGTACCACTTGGGAGTCCTC -3'
Sequencing Primer
(F):5'- ATCGGCCATCTGATGTCCATGAG -3'
(R):5'- GGAGTCCTCCTCTGGCATTG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation