Incidental Mutation 'IGL00586:Crp'
| ID |
26570 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Crp
|
| Ensembl Gene |
ENSMUSG00000037942 |
| Gene Name |
C-reactive protein, pentraxin-related |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00586
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
172525623-172527533 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 172526568 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 218
(F218L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044665
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038495]
|
| AlphaFold |
P14847 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038495
AA Change: F218L
PolyPhen 2
Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000044665
Gene: ENSMUSG00000037942
AA Change: F218L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
PTX
|
20 |
225 |
4.55e-132 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194251
|
| 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 belongs to the pentaxin family. It is involved in several host defense related functions based on its ability to recognize foreign pathogens and damaged cells of the host and to initiate their elimination by interacting with humoral and cellular effector systems in the blood. Consequently, the level of this protein in plasma increases greatly during acute phase response to tissue injury, infection, or other inflammatory stimuli. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele lack detectable C-reactive protein in the serum but are otherwise healthy and fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl5b |
T |
C |
2: 15,074,746 (GRCm39) |
S76P |
probably benign |
Het |
| Asap3 |
A |
C |
4: 135,933,879 (GRCm39) |
D17A |
probably damaging |
Het |
| Ccdc24 |
C |
T |
4: 117,729,243 (GRCm39) |
R78H |
probably damaging |
Het |
| Dab2 |
T |
C |
15: 6,459,306 (GRCm39) |
L385P |
probably benign |
Het |
| Dip2c |
C |
A |
13: 9,660,791 (GRCm39) |
T855N |
probably damaging |
Het |
| Dnai7 |
A |
T |
6: 145,137,302 (GRCm39) |
F269I |
possibly damaging |
Het |
| Dync2i1 |
A |
T |
12: 116,205,400 (GRCm39) |
D396E |
probably benign |
Het |
| Ep400 |
A |
G |
5: 110,887,460 (GRCm39) |
V541A |
probably damaging |
Het |
| Gbgt1 |
A |
T |
2: 28,392,207 (GRCm39) |
|
probably null |
Het |
| Gm6871 |
A |
T |
7: 41,195,845 (GRCm39) |
D297E |
possibly damaging |
Het |
| Gpr107 |
T |
A |
2: 31,062,006 (GRCm39) |
F145I |
probably benign |
Het |
| Itgb6 |
T |
G |
2: 60,450,696 (GRCm39) |
D581A |
probably benign |
Het |
| Lce1a1 |
C |
T |
3: 92,554,470 (GRCm39) |
M1I |
probably null |
Het |
| Lmbrd2 |
G |
A |
15: 9,157,382 (GRCm39) |
V207M |
probably damaging |
Het |
| Muc5b |
T |
A |
7: 141,395,129 (GRCm39) |
V45E |
unknown |
Het |
| Mybpc2 |
A |
G |
7: 44,154,806 (GRCm39) |
V977A |
probably damaging |
Het |
| Oas1c |
T |
C |
5: 120,946,744 (GRCm39) |
T29A |
probably benign |
Het |
| Pdzd2 |
G |
T |
15: 12,365,853 (GRCm39) |
|
probably null |
Het |
| Plk2 |
T |
C |
13: 110,532,912 (GRCm39) |
Y158H |
possibly damaging |
Het |
| Prss1l |
T |
C |
6: 41,373,049 (GRCm39) |
I107T |
probably damaging |
Het |
| Ptprq |
A |
G |
10: 107,443,983 (GRCm39) |
|
probably benign |
Het |
| Rnf17 |
C |
T |
14: 56,658,539 (GRCm39) |
T76I |
probably damaging |
Het |
| Serpinb1c |
T |
C |
13: 33,067,958 (GRCm39) |
K213E |
probably damaging |
Het |
| Sidt2 |
A |
G |
9: 45,854,350 (GRCm39) |
V624A |
possibly damaging |
Het |
| Sin3b |
T |
C |
8: 73,483,628 (GRCm39) |
V1005A |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,182,495 (GRCm39) |
V358A |
possibly damaging |
Het |
| Zfp120 |
T |
C |
2: 149,961,748 (GRCm39) |
I67V |
possibly damaging |
Het |
| Zfp942 |
A |
T |
17: 22,147,605 (GRCm39) |
H341Q |
probably damaging |
Het |
|
| Other mutations in Crp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0920:Crp
|
UTSW |
1 |
172,526,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1871:Crp
|
UTSW |
1 |
172,526,172 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4543:Crp
|
UTSW |
1 |
172,526,304 (GRCm39) |
missense |
probably benign |
|
|
R4648:Crp
|
UTSW |
1 |
172,525,704 (GRCm39) |
start codon destroyed |
probably null |
0.24 |
|
R5213:Crp
|
UTSW |
1 |
172,526,086 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5407:Crp
|
UTSW |
1 |
172,525,676 (GRCm39) |
start gained |
probably null |
|
|
R5822:Crp
|
UTSW |
1 |
172,525,635 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R7816:Crp
|
UTSW |
1 |
172,526,277 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8786:Crp
|
UTSW |
1 |
172,526,293 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9234:Crp
|
UTSW |
1 |
172,526,413 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9274:Crp
|
UTSW |
1 |
172,526,072 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
| Posted On |
2013-04-17 |
Incidental Mutation