Incidental Mutation 'R2878:Trem2'
ID 260202
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 040466-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R2878 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 48653429-48659304 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48658141 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 135 (D135G)
Ref Sequence ENSEMBL: ENSMUSP00000108863 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024791] [ENSMUST00000113237]
AlphaFold Q99NH8
Predicted Effect probably benign
Transcript: ENSMUST00000024791
AA Change: D135G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000024791
Gene: ENSMUSG00000023992
AA Change: D135G

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 benign
Transcript: ENSMUST00000113237
AA Change: D135G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108863
Gene: ENSMUSG00000023992
AA Change: D135G

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 92% (58/63)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C T 11: 9,241,889 (GRCm39) L1251F possibly damaging Het
Accsl A T 2: 93,689,755 (GRCm39) M384K probably damaging Het
Adgrg7 A G 16: 56,570,817 (GRCm39) F404L probably benign Het
Akr1c20 G A 13: 4,557,774 (GRCm39) T251M probably damaging Het
Amph G A 13: 19,288,437 (GRCm39) V309I possibly damaging Het
Ano2 T G 6: 125,840,481 (GRCm39) F384C probably damaging Het
Aplf G A 6: 87,645,409 (GRCm39) R32* probably null Het
Arhgef18 A G 8: 3,482,759 (GRCm39) M155V probably benign Het
Atg2b A T 12: 105,630,268 (GRCm39) Y374* probably null Het
Camkmt T C 17: 85,738,979 (GRCm39) probably benign Het
Capn2 T A 1: 182,344,798 (GRCm39) E41V probably benign Het
Cd53 T C 3: 106,674,732 (GRCm39) T112A probably benign Het
Cyp2a4 G A 7: 26,011,612 (GRCm39) E278K possibly damaging Het
Dact2 A T 17: 14,416,176 (GRCm39) S675T probably damaging Het
Dync1li2 A C 8: 105,156,047 (GRCm39) Y265D probably damaging Het
Eml4 T A 17: 83,717,603 (GRCm39) H58Q probably benign Het
F13b T C 1: 139,429,485 (GRCm39) M1T probably null Het
Fam83b A G 9: 76,398,092 (GRCm39) F1004L probably damaging Het
Fbxo48 A G 11: 16,903,382 (GRCm39) K3E possibly damaging Het
Fbxw13 A G 9: 109,010,534 (GRCm39) F368S probably damaging Het
Fbxw19 A T 9: 109,315,038 (GRCm39) W175R probably damaging Het
Fibcd1 G A 2: 31,728,678 (GRCm39) P60S probably benign Het
Fscb A T 12: 64,519,348 (GRCm39) V706E unknown Het
Gfm2 A G 13: 97,289,757 (GRCm39) R181G possibly damaging Het
Gm17546 A T 15: 95,727,805 (GRCm39) probably benign Het
Grin1 A G 2: 25,187,641 (GRCm39) V594A probably damaging Het
Itpripl1 A G 2: 126,983,534 (GRCm39) V196A probably benign Het
Kcns1 A G 2: 164,006,682 (GRCm39) I427T probably damaging Het
Map3k19 T A 1: 127,751,530 (GRCm39) E607V possibly damaging Het
Map3k4 T C 17: 12,482,954 (GRCm39) S588G probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Naa80 A T 9: 107,460,367 (GRCm39) E87D possibly damaging Het
Nebl C A 2: 17,439,740 (GRCm39) D178Y probably damaging Het
Nfatc3 C A 8: 106,818,776 (GRCm39) T498K probably damaging Het
Nfkb2 G A 19: 46,295,880 (GRCm39) R158H possibly damaging Het
Obscn T C 11: 58,947,014 (GRCm39) E4337G possibly damaging Het
Or5b106 A G 19: 13,123,771 (GRCm39) L84P probably benign Het
Palb2 A G 7: 121,713,652 (GRCm39) V877A probably damaging Het
Rbm6 T C 9: 107,729,649 (GRCm39) E333G probably damaging Het
Rem2 A G 14: 54,713,819 (GRCm39) T31A possibly damaging Het
Ric1 A G 19: 29,579,730 (GRCm39) D1224G possibly damaging Het
Rp1 A G 1: 4,418,362 (GRCm39) S917P probably damaging Het
Scn2a G A 2: 65,518,715 (GRCm39) G363D probably damaging Het
Shcbp1l A T 1: 153,313,264 (GRCm39) probably benign Het
Skor2 G T 18: 76,948,419 (GRCm39) E714* probably null Het
Slc15a1 T A 14: 121,703,345 (GRCm39) K545N probably benign Het
Slc1a2 T A 2: 102,591,512 (GRCm39) M414K probably damaging Het
Slc7a8 A G 14: 54,997,143 (GRCm39) S70P probably damaging Het
Spopfm1 G T 3: 94,173,787 (GRCm39) C265F possibly damaging Het
Taf1a A G 1: 183,179,173 (GRCm39) E117G probably damaging Het
Ttn T C 2: 76,567,409 (GRCm39) D27828G probably damaging Het
Ulk4 T C 9: 121,089,105 (GRCm39) D258G probably benign Het
Unc80 TGTATTCCAGGCG TG 1: 66,710,735 (GRCm39) probably benign Het
Vmn2r56 A C 7: 12,444,954 (GRCm39) M433R probably benign Het
Wdr45 C T X: 7,593,611 (GRCm39) P271S probably damaging Het
Zfp410 A C 12: 84,378,411 (GRCm39) N245T probably damaging 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
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
R6162:Trem2 UTSW 17 48,655,694 (GRCm39) missense probably damaging 1.00
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'- CCCGCTACTGCAAAGGATAG -3'
(R):5'- GCTACAAAGGGCTCCAATTTC -3'

Sequencing Primer
(F):5'- CTACTGCAAAGGATAGGGAATCGACC -3'
(R):5'- AGGGCTCCAATTTCTCAATATCTAGC -3'
Posted On 2015-01-23