Incidental Mutation 'IGL02877:Ptx3'
| ID |
362672 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ptx3
|
| Ensembl Gene |
ENSMUSG00000027832 |
| Gene Name |
pentraxin related gene |
| Synonyms |
TSG-14, pentraxin 3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
IGL02877
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
66127331-66133226 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 66132196 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 239
(Y239C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029421
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029419]
[ENSMUST00000029421]
|
| AlphaFold |
P48759 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029419
|
| SMART Domains |
Protein: ENSMUSP00000029419
Gene: ENSMUSG00000027831
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
59 |
76 |
N/A |
INTRINSIC |
|
Blast:PH
|
586 |
626 |
1e-5 |
BLAST |
|
PH
|
717 |
821 |
1.44e-14 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029421
AA Change: Y239C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029421
Gene: ENSMUSG00000027832
AA Change: Y239C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
144 |
N/A |
INTRINSIC |
|
PTX
|
175 |
381 |
5.82e-89 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182521
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the pentraxin protein family. The expression of this protein is induced by inflammatory cytokines in response to inflammatory stimuli in several mesenchymal and epithelial cell types, particularly endothelial cells and mononuclear phagocytes. The protein promotes fibrocyte differentiation and is involved in regulating inflammation and complement activation. It also plays a role in angiogenesis and tissue remodeling. The protein serves as a biomarker for several inflammatory conditions. [provided by RefSeq, Jun 2016]
PHENOTYPE: Homozygous mutant mice display female subfertility due to abnormalities of the cumulus oophorus and are susceptible to invasive pulmonary aspergillosis associated with defective recognition of conidia by alveolar macrophages and dendritic cells and impaired induction of adaptive type 2 responses. [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 |
|---|
| Aass |
A |
T |
6: 23,078,875 (GRCm39) |
Y712* |
probably null |
Het |
| Adcy5 |
A |
G |
16: 35,118,970 (GRCm39) |
D1107G |
probably damaging |
Het |
| Ankhd1 |
C |
A |
18: 36,727,876 (GRCm39) |
T504K |
probably damaging |
Het |
| Asb18 |
C |
T |
1: 89,880,533 (GRCm39) |
C160Y |
possibly damaging |
Het |
| Capn13 |
A |
G |
17: 73,629,050 (GRCm39) |
S586P |
probably damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,882,550 (GRCm39) |
T1199S |
probably benign |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Cnot8 |
A |
G |
11: 58,002,228 (GRCm39) |
E87G |
probably benign |
Het |
| Crnkl1 |
C |
A |
2: 145,762,591 (GRCm39) |
E525* |
probably null |
Het |
| Eif2d |
T |
C |
1: 131,092,854 (GRCm39) |
|
probably benign |
Het |
| Flywch1 |
A |
G |
17: 23,979,388 (GRCm39) |
S416P |
probably damaging |
Het |
| Glcci1 |
T |
C |
6: 8,582,757 (GRCm39) |
S373P |
probably damaging |
Het |
| Gli3 |
A |
G |
13: 15,899,327 (GRCm39) |
R905G |
probably damaging |
Het |
| Hcn4 |
T |
C |
9: 58,766,450 (GRCm39) |
V706A |
unknown |
Het |
| Ift74 |
T |
C |
4: 94,513,018 (GRCm39) |
|
probably null |
Het |
| Ighv8-6 |
A |
T |
12: 115,129,700 (GRCm39) |
S19T |
probably damaging |
Het |
| Knl1 |
T |
A |
2: 118,919,312 (GRCm39) |
N1821K |
probably benign |
Het |
| Msx1 |
G |
A |
5: 37,981,344 (GRCm39) |
P112S |
possibly damaging |
Het |
| Nes |
A |
G |
3: 87,882,968 (GRCm39) |
D409G |
probably benign |
Het |
| Nsmf |
A |
T |
2: 24,945,968 (GRCm39) |
I152F |
possibly damaging |
Het |
| Nt5c1a |
T |
A |
4: 123,109,867 (GRCm39) |
I322N |
probably damaging |
Het |
| Or7g27 |
T |
C |
9: 19,250,497 (GRCm39) |
V247A |
possibly damaging |
Het |
| Pnpla8 |
A |
G |
12: 44,330,248 (GRCm39) |
T49A |
probably benign |
Het |
| Rarg |
G |
T |
15: 102,150,374 (GRCm39) |
|
probably null |
Het |
| Slc33a1 |
G |
A |
3: 63,850,806 (GRCm39) |
T506I |
probably benign |
Het |
| Spem2 |
T |
G |
11: 69,708,521 (GRCm39) |
H148P |
probably benign |
Het |
| Trim24 |
A |
G |
6: 37,942,581 (GRCm39) |
D961G |
probably damaging |
Het |
| Vmn2r14 |
G |
A |
5: 109,368,054 (GRCm39) |
H313Y |
probably damaging |
Het |
|
| Other mutations in Ptx3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0674:Ptx3
|
UTSW |
3 |
66,132,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1966:Ptx3
|
UTSW |
3 |
66,132,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2114:Ptx3
|
UTSW |
3 |
66,132,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2116:Ptx3
|
UTSW |
3 |
66,132,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3717:Ptx3
|
UTSW |
3 |
66,132,376 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4222:Ptx3
|
UTSW |
3 |
66,132,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4898:Ptx3
|
UTSW |
3 |
66,132,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5426:Ptx3
|
UTSW |
3 |
66,128,143 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5942:Ptx3
|
UTSW |
3 |
66,127,484 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R6061:Ptx3
|
UTSW |
3 |
66,132,130 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6216:Ptx3
|
UTSW |
3 |
66,132,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7165:Ptx3
|
UTSW |
3 |
66,132,391 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7253:Ptx3
|
UTSW |
3 |
66,132,368 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8411:Ptx3
|
UTSW |
3 |
66,132,201 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8458:Ptx3
|
UTSW |
3 |
66,128,419 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8958:Ptx3
|
UTSW |
3 |
66,128,391 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9046:Ptx3
|
UTSW |
3 |
66,132,153 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Ptx3
|
UTSW |
3 |
66,128,256 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2015-12-18 |
Incidental Mutation