Incidental Mutation 'R5506:Trem2'
ID430947
Institutional Source Beutler Lab
Gene Symbol Trem2
Ensembl Gene ENSMUSG00000023992
Gene Nametriggering receptor expressed on myeloid cells 2
SynonymsTrem2a, Trem2b, Trem2c
MMRRC Submission 043067-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.064) question?
Stock #R5506 (G1)
Quality Score225
Status Validated
Chromosome17
Chromosomal Location48346401-48354147 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 48351774 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 189 (L189P)
Ref Sequence ENSEMBL: ENSMUSP00000108863 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024791] [ENSMUST00000113237]
Predicted Effect probably benign
Transcript: ENSMUST00000024791
AA Change: S171P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000024791
Gene: ENSMUSG00000023992
AA Change: S171P

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: L189P

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000108863
Gene: ENSMUSG00000023992
AA Change: L189P

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: 98.3%
  • 3x: 97.3%
  • 10x: 95.4%
  • 20x: 91.4%
Validation Efficiency 100% (53/53)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G T 3: 138,067,947 G966W probably damaging Het
3110002H16Rik A G 18: 12,188,956 probably benign Het
A930009A15Rik G T 10: 115,578,362 probably null Het
Cant1 G T 11: 118,411,442 H16Q probably benign Het
Capn3 G T 2: 120,502,420 V612F probably damaging Het
Cep112 A T 11: 108,664,603 E141D probably damaging Het
Cept1 A G 3: 106,531,248 V173A probably benign Het
CN725425 A G 15: 91,235,826 D50G possibly damaging Het
Cubn A T 2: 13,491,695 probably null Het
Dnajb12 GC G 10: 59,892,752 probably null Het
Dpp8 A G 9: 65,078,109 probably null Het
Ecm1 G A 3: 95,735,857 T377I probably benign Het
Exosc8 A G 3: 54,731,179 probably benign Het
Fam129b G A 2: 32,920,982 V335M probably damaging Het
Fam71f1 G A 6: 29,319,298 E34K probably damaging Het
Fasn C T 11: 120,809,510 D2165N probably benign Het
Gab2 A G 7: 97,303,113 E571G probably damaging Het
Galnt5 C A 2: 57,999,625 H412Q probably benign Het
Galr1 T A 18: 82,405,864 Y96F possibly damaging Het
Gm8882 T C 6: 132,361,856 N133S unknown Het
Gnl2 C A 4: 125,055,365 probably benign Het
H2afx T C 9: 44,335,105 V115A probably benign Het
Heatr9 T C 11: 83,514,766 N317S possibly damaging Het
Hist1h2an A C 13: 21,786,911 I103S probably damaging Het
Kndc1 A G 7: 139,927,891 Y1254C probably damaging Het
Lrp6 A T 6: 134,459,296 D1302E probably benign Het
Mc2r A T 18: 68,407,948 Y91* probably null Het
Meis1 T G 11: 18,941,747 D267A possibly damaging Het
Mki67 T C 7: 135,699,981 K1108R possibly damaging Het
Mroh2a A G 1: 88,258,664 S64G probably benign Het
Myh3 T G 11: 67,084,089 D219E probably damaging Het
Olfr1511 T C 14: 52,390,627 I49V probably damaging Het
Olfr857 T C 9: 19,713,274 L149P possibly damaging Het
Pi4ka A G 16: 17,293,953 C1553R probably damaging Het
Plekhb1 C A 7: 100,644,943 probably null Het
Polr3d A T 14: 70,440,759 D165E possibly damaging Het
Psmb1 A G 17: 15,490,216 Y24H probably damaging Het
Rab11fip5 A G 6: 85,374,137 L131P probably damaging Het
Raph1 A T 1: 60,493,498 probably benign Het
Scgb2b27 T G 7: 34,012,059 probably benign Het
Serpina10 T C 12: 103,626,661 D264G probably damaging Het
Sftpb A G 6: 72,304,667 T15A possibly damaging Het
Slc20a1 T C 2: 129,210,819 F674L probably benign Het
Syne2 A T 12: 75,938,721 N1648Y probably benign Het
Thsd7a G T 6: 12,332,017 N1265K possibly damaging Het
Washc4 A T 10: 83,581,337 R865S probably damaging Het
Zfp536 A G 7: 37,568,792 S400P probably damaging Het
Other mutations in Trem2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01087:Trem2 APN 17 48351928 missense probably damaging 0.98
R2566:Trem2 UTSW 17 48351835 nonsense probably null
R2878:Trem2 UTSW 17 48351113 missense probably benign
R4825:Trem2 UTSW 17 48351691 missense possibly damaging 0.86
R5597:Trem2 UTSW 17 48351812 missense probably benign 0.09
R5913:Trem2 UTSW 17 48346633 intron probably benign
R6162:Trem2 UTSW 17 48348666 missense probably damaging 1.00
R7751:Trem2 UTSW 17 48346539 start gained probably benign
R7938:Trem2 UTSW 17 48351749 missense probably benign 0.09
R8236:Trem2 UTSW 17 48351906 missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AATTGACAACAGAGTCCCCTG -3'
(R):5'- CTGCAACAGATACCTCTCAAGG -3'

Sequencing Primer
(F):5'- GAGTCCCCTGAGCCACATGAAG -3'
(R):5'- AAGGCTCCCATCGCTCC -3'
Posted On2016-10-05