|Institutional Source||Beutler Lab|
|Gene Name||pentraxin related gene|
|Synonyms||TSG-14, pentraxin 3|
|Is this an essential gene?||Probably non essential (E-score: 0.191)|
|Stock #||R2114 (G1)|
|Chromosomal Location||66219910-66225805 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 66224766 bp|
|Amino Acid Change||Isoleucine to Asparagine at position 236 (I236N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029421 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029419] [ENSMUST00000029421]|
|Predicted Effect||probably benign
|Predicted Effect||probably damaging
AA Change: I236N
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: I236N
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
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'- GTTGTGAAACAGCAATTTTCTTCCC -3'
(R):5'- TTGGCCAATCTGTAGGAGTCC -3'
(F):5'- GAAACAGCAATTTTCTTCCCAATGCG -3'
(R):5'- CCCTCAGGAACAGAGTGACTTTTG -3'