Incidental Mutation 'R6162:Trem2'
ID 489939
Institutional Source Beutler Lab
Gene Symbol Trem2
Ensembl Gene ENSMUSG00000023992
Gene Name triggering receptor expressed on myeloid cells 2
Synonyms Trem2b, Trem2c, Trem2a
MMRRC Submission 044309-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R6162 (G1)
Quality Score 115.008
Status Validated
Chromosome 17
Chromosomal Location 48653429-48659304 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48655694 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 84 (I84V)
Ref Sequence ENSEMBL: ENSMUSP00000108863 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024791] [ENSMUST00000113237]
AlphaFold Q99NH8
Predicted Effect probably damaging
Transcript: ENSMUST00000024791
AA Change: I84V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000024791
Gene: ENSMUSG00000023992
AA Change: I84V

DomainStartEndE-ValueType
low complexity region 8 19 N/A INTRINSIC
IG 21 129 2.64e-3 SMART
transmembrane domain 172 194 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113237
AA Change: I84V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108863
Gene: ENSMUSG00000023992
AA Change: I84V

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IG 21 129 2.64e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132340
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148545
Meta Mutation Damage Score 0.3017 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 98% (40/41)
MGI Phenotype FUNCTION: The protein encoded by this gene is part of the immunoglobulin and lectin-like superfamily and functions as part of the innate immune system. This gene forms part of a cluster of genes on mouse chromosome 17 thought to be involved in innate immunity. This protein associates with the adaptor protein Dap-12 and recruits several factors, such as kinases and phospholipase C-gamma, to form a receptor signaling complex that activates myeloid cells, including dendritic cells and microglia. In humans homozygous loss-of-function mutations in this gene cause Nasu-Hakola disease and mutations in this gene may be risk factors to the development of Alzheimer's disease. In mouse mutations of this gene serve as a pathophysiological model for polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (Nasu-Hakola disease) and for inflammatory bowel disease. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a knock-out allele display enhanced cytokine production by macrophages in response to toll-like receptor agonists. Mice homozygous for a different knock-out allele show reduced microglial cell survival, proliferation and activation and cell cycle arrest at the G1/S checkpoint. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T G 11: 9,259,047 (GRCm39) C2924W probably damaging Het
Adh4 T A 3: 138,121,250 (GRCm39) probably null Het
Aox3 A T 1: 58,198,890 (GRCm39) D695V possibly damaging Het
Ccnj A G 19: 40,833,606 (GRCm39) Y221C probably damaging Het
Cct2 T A 10: 116,894,091 (GRCm39) D221V probably damaging Het
Cd5 G A 19: 10,703,244 (GRCm39) T138M probably damaging Het
Cep78 A T 19: 15,952,304 (GRCm39) M307K probably benign Het
Dclk1 C A 3: 55,163,575 (GRCm39) D222E probably benign Het
Dhrs11 C T 11: 84,719,605 (GRCm39) G40D probably damaging Het
Dnah10 A G 5: 124,900,382 (GRCm39) S3823G probably benign Het
Dnai3 T A 3: 145,750,617 (GRCm39) I821F probably damaging Het
Dock3 A T 9: 106,841,998 (GRCm39) Y944N possibly damaging Het
Dst A G 1: 34,045,318 (GRCm39) D17G probably damaging Het
Ehmt2 C T 17: 35,118,067 (GRCm39) R40* probably null Het
Fam20a G T 11: 109,573,696 (GRCm39) S229* probably null Het
Fbn1 T C 2: 125,202,147 (GRCm39) D1242G probably damaging Het
Ggt5 T A 10: 75,425,626 (GRCm39) V28D possibly damaging Het
Gimap4 A T 6: 48,667,655 (GRCm39) I137F probably damaging Het
Git2 T A 5: 114,899,717 (GRCm39) H212L probably damaging Het
Gprc6a T A 10: 51,491,008 (GRCm39) I739F probably benign Het
Il1rl2 A G 1: 40,391,038 (GRCm39) Y327C probably damaging Het
Lmf1 A G 17: 25,831,368 (GRCm39) I205V probably benign Het
Mipep C A 14: 61,024,853 (GRCm39) P98Q probably damaging Het
Mroh2b A G 15: 4,944,707 (GRCm39) D436G probably damaging Het
Mtcl2 T A 2: 156,881,784 (GRCm39) E756V possibly damaging Het
Myorg A G 4: 41,497,899 (GRCm39) V577A possibly damaging Het
Notch1 C T 2: 26,352,207 (GRCm39) V2035I probably benign Het
Or1e28-ps1 T A 11: 73,615,713 (GRCm39) I46F probably damaging Het
Or2ag16 A T 7: 106,352,227 (GRCm39) Y123N probably damaging Het
Or4c118 G T 2: 88,975,114 (GRCm39) F84L probably benign Het
Oxa1l A G 14: 54,605,789 (GRCm39) T395A probably damaging Het
Phospho2 T A 2: 69,626,375 (GRCm39) I177K probably damaging Het
Prpf40a T C 2: 53,049,317 (GRCm39) T224A probably benign Het
Reln T A 5: 22,116,048 (GRCm39) T2987S probably damaging Het
Scn5a T A 9: 119,351,621 (GRCm39) I787F probably damaging Het
Sgsm2 A T 11: 74,782,847 (GRCm39) D36E probably damaging Het
Slc12a3 A G 8: 95,072,401 (GRCm39) probably null Het
Tas2r134 T C 2: 51,517,571 (GRCm39) S17P probably damaging Het
Top3a T C 11: 60,636,763 (GRCm39) Y609C probably damaging Het
Vmn2r12 A G 5: 109,234,430 (GRCm39) L594P probably damaging Het
Zdbf2 A T 1: 63,319,977 (GRCm39) probably benign Het
Zfr C T 15: 12,146,331 (GRCm39) A294V unknown Het
Other mutations in Trem2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01087:Trem2 APN 17 48,658,956 (GRCm39) missense probably damaging 0.98
R2566:Trem2 UTSW 17 48,658,863 (GRCm39) nonsense probably null
R2878:Trem2 UTSW 17 48,658,141 (GRCm39) missense probably benign
R4825:Trem2 UTSW 17 48,658,719 (GRCm39) missense possibly damaging 0.86
R5506:Trem2 UTSW 17 48,658,802 (GRCm39) missense probably benign 0.03
R5597:Trem2 UTSW 17 48,658,840 (GRCm39) missense probably benign 0.09
R5913:Trem2 UTSW 17 48,653,661 (GRCm39) intron probably benign
R7751:Trem2 UTSW 17 48,653,567 (GRCm39) start gained probably benign
R7938:Trem2 UTSW 17 48,658,777 (GRCm39) missense probably benign 0.09
R8236:Trem2 UTSW 17 48,658,934 (GRCm39) missense probably benign 0.01
R8974:Trem2 UTSW 17 48,655,599 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCACTCCTGGAACTGCTTC -3'
(R):5'- TAAGACCTGGCACAAGGACC -3'

Sequencing Primer
(F):5'- AAGTGGCTGTCTCCTCTGCAG -3'
(R):5'- GGACCAGCCAAAGGTGCAC -3'
Posted On 2017-10-10