|Institutional Source||Beutler Lab|
|Gene Name||pentraxin related gene|
|Synonyms||TSG-14, pentraxin 3|
|Is this an essential gene?||Probably non essential (E-score: 0.101)|
|Stock #||R5426 (G1)|
|Chromosomal Location||66219910-66225805 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 66220722 bp (GRCm38)|
|Amino Acid Change||Methionine to Threonine at position 68 (M68T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029421 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029419] [ENSMUST00000029421]|
AA Change: M68T
PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: M68T
|Meta Mutation Damage Score||0.3225|
|Coding Region Coverage||
|Validation Efficiency||97% (85/88)|
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||
|Other mutations in Ptx3||
(F):5'- CTTAGAAGGAGAGCGGTTGC -3'
(R):5'- CCACAAAAGCTTGCCTCTAGG -3'
(F):5'- AGTCACCAAGAGTGCAAC -3'
(R):5'- AAGCTTGCCTCTAGGGACAG -3'