|Institutional Source||Beutler Lab|
|Gene Name||triggering receptor expressed on myeloid cells 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6538 (G1)|
|Chromosomal Location||48232768-48246924 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 48237090 bp|
|Amino Acid Change||Tyrosine to Histidine at position 48 (Y48H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000038636 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000048782] [ENSMUST00000113251]|
|Predicted Effect||possibly damaging
AA Change: Y48H
PolyPhen 2 Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: Y48H
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a receptor belonging to the Ig superfamily that is expressed on myeloid cells. This protein amplifies neutrophil and monocyte-mediated inflammatory responses triggered by bacterial and fungal infections by stimulating release of pro-inflammatory chemokines and cytokines, as well as increased surface expression of cell activation markers. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jun 2011]
PHENOTYPE: Mice homozygous for a reporter allele exhibit decreased susceptibility to DEN induced tumors and liver damage. Mice homozygous for a knock-out allele of Trem1 and Trem3 exhibit increased susceptibility to P. aeruginosa infection with reduced neutrophil transepithelial migration. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Trem1||
(F):5'- ACAAGTCCTTCCCAGTTGAG -3'
(R):5'- GAGCACAACAGGGTCATTCG -3'
(F):5'- AGAGTTTGGACAGACGTCATTCCC -3'
(R):5'- CAATCCAGAGTCTGTCACTTGAAGG -3'