Incidental Mutation 'R6538:Trem1'
ID 520562
Institutional Source Beutler Lab
Gene Symbol Trem1
Ensembl Gene ENSMUSG00000042265
Gene Name triggering receptor expressed on myeloid cells 1
Synonyms
MMRRC Submission 044664-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6538 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 48539796-48553952 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 48544118 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9JKE2
PDB Structure Crystal Structure of Mouse Triggering Receptor Expressed on Myeloid Cells 1 (TREM-1) at 1.76 [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000048782
AA Change: Y48H

PolyPhen 2 Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000038636
Gene: ENSMUSG00000042265
AA Change: Y48H

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IG 26 134 1.25e-4 SMART
low complexity region 159 170 N/A INTRINSIC
transmembrane domain 202 224 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113251
SMART Domains Protein: ENSMUSP00000108877
Gene: ENSMUSG00000042265

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 40 51 N/A INTRINSIC
transmembrane domain 83 105 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency
MGI Phenotype 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
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930009A15Rik A G 10: 115,406,104 (GRCm39) probably benign Het
Abcd4 T A 12: 84,658,535 (GRCm39) M223L probably benign Het
Adat1 T C 8: 112,695,094 (GRCm39) I482V probably benign Het
Adrm1b C T 3: 92,336,562 (GRCm39) V47M possibly damaging Het
Arfgef2 A G 2: 166,735,541 (GRCm39) probably null Het
Atn1 A G 6: 124,723,512 (GRCm39) probably benign Het
Cyb561d2 C A 9: 107,417,216 (GRCm39) M178I possibly damaging Het
Dnah14 A T 1: 181,412,550 (GRCm39) H30L unknown Het
Dnah2 T C 11: 69,328,023 (GRCm39) I3367V possibly damaging Het
Fcmr A G 1: 130,802,762 (GRCm39) Y125C possibly damaging Het
Gm7298 G T 6: 121,753,132 (GRCm39) V870L probably damaging Het
Grin3a T C 4: 49,770,856 (GRCm39) S639G probably damaging Het
H1f6 A G 13: 23,879,904 (GRCm39) E19G probably benign Het
Ighv9-1 T A 12: 114,057,685 (GRCm39) T72S possibly damaging Het
Klra2 T A 6: 131,219,953 (GRCm39) H76L probably damaging Het
Lamp1 A G 8: 13,221,285 (GRCm39) T209A probably benign Het
Lrrc9 T A 12: 72,547,703 (GRCm39) Y1294N probably benign Het
Or2b11 C T 11: 59,462,411 (GRCm39) V52I probably benign Het
Or5t9 A T 2: 86,659,869 (GRCm39) T258S possibly damaging Het
Peg10 GAT GATCAT 6: 4,756,449 (GRCm39) probably benign Het
Pik3ca T C 3: 32,493,853 (GRCm39) Y272H probably damaging Het
Spindoc T C 19: 7,360,064 (GRCm39) I35V probably benign Het
St6galnac4 A C 2: 32,487,090 (GRCm39) M262L possibly damaging Het
Szt2 C T 4: 118,247,674 (GRCm39) probably null Het
Tcstv7b T C 13: 120,702,468 (GRCm39) V88A possibly damaging Het
Trim38 A T 13: 23,969,932 (GRCm39) T164S probably damaging Het
Zfp715 A T 7: 42,948,573 (GRCm39) H462Q possibly damaging Het
Zfyve16 C T 13: 92,641,024 (GRCm39) G1240E probably damaging Het
Other mutations in Trem1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01120:Trem1 APN 17 48,544,277 (GRCm39) missense probably benign 0.14
IGL01729:Trem1 APN 17 48,551,603 (GRCm39) missense possibly damaging 0.90
IGL01756:Trem1 APN 17 48,544,141 (GRCm39) nonsense probably null
IGL02348:Trem1 APN 17 48,539,824 (GRCm39) start codon destroyed probably null 1.00
IGL02720:Trem1 APN 17 48,539,869 (GRCm39) missense probably benign 0.03
R0589:Trem1 UTSW 17 48,544,245 (GRCm39) missense possibly damaging 0.93
R1807:Trem1 UTSW 17 48,548,663 (GRCm39) nonsense probably null
R1878:Trem1 UTSW 17 48,548,516 (GRCm39) missense possibly damaging 0.83
R4648:Trem1 UTSW 17 48,551,590 (GRCm39) missense probably benign 0.10
R5121:Trem1 UTSW 17 48,539,864 (GRCm39) missense probably null 0.00
R5387:Trem1 UTSW 17 48,548,541 (GRCm39) missense possibly damaging 0.92
R5623:Trem1 UTSW 17 48,544,083 (GRCm39) missense probably damaging 1.00
R5953:Trem1 UTSW 17 48,544,220 (GRCm39) missense probably benign 0.01
R8898:Trem1 UTSW 17 48,544,374 (GRCm39) missense probably damaging 1.00
R9099:Trem1 UTSW 17 48,544,271 (GRCm39) missense possibly damaging 0.61
Predicted Primers PCR Primer
(F):5'- ACAAGTCCTTCCCAGTTGAG -3'
(R):5'- GAGCACAACAGGGTCATTCG -3'

Sequencing Primer
(F):5'- AGAGTTTGGACAGACGTCATTCCC -3'
(R):5'- CAATCCAGAGTCTGTCACTTGAAGG -3'
Posted On 2018-06-06