Incidental Mutation 'R5506:Trem2'
ID 430947
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 043067-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R5506 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 48653429-48659304 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 48658802 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q99NH8
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: 137,773,708 (GRCm39) G966W probably damaging Het
A930009A15Rik G T 10: 115,414,267 (GRCm39) probably null Het
Cant1 G T 11: 118,302,268 (GRCm39) H16Q probably benign Het
Capn3 G T 2: 120,332,901 (GRCm39) V612F probably damaging Het
Cep112 A T 11: 108,555,429 (GRCm39) E141D probably damaging Het
Cept1 A G 3: 106,438,564 (GRCm39) V173A probably benign Het
CN725425 A G 15: 91,120,029 (GRCm39) D50G possibly damaging Het
Cubn A T 2: 13,496,506 (GRCm39) probably null Het
Dnajb12 GC G 10: 59,728,574 (GRCm39) probably null Het
Dpp8 A G 9: 64,985,391 (GRCm39) probably null Het
Ecm1 G A 3: 95,643,169 (GRCm39) T377I probably benign Het
Exosc8 A G 3: 54,638,600 (GRCm39) probably benign Het
Fasn C T 11: 120,700,336 (GRCm39) D2165N probably benign Het
Gab2 A G 7: 96,952,320 (GRCm39) E571G probably damaging Het
Galnt5 C A 2: 57,889,637 (GRCm39) H412Q probably benign Het
Galr1 T A 18: 82,423,989 (GRCm39) Y96F possibly damaging Het
Garin1b G A 6: 29,319,297 (GRCm39) E34K probably damaging Het
Gnl2 C A 4: 124,949,158 (GRCm39) probably benign Het
H2ac22 A C 13: 21,971,081 (GRCm39) I103S probably damaging Het
H2ax T C 9: 44,246,402 (GRCm39) V115A probably benign Het
Heatr9 T C 11: 83,405,592 (GRCm39) N317S possibly damaging Het
Kndc1 A G 7: 139,507,804 (GRCm39) Y1254C probably damaging Het
Lrp6 A T 6: 134,436,259 (GRCm39) D1302E probably benign Het
Mc2r A T 18: 68,541,019 (GRCm39) Y91* probably null Het
Meis1 T G 11: 18,891,747 (GRCm39) D267A possibly damaging Het
Mki67 T C 7: 135,301,710 (GRCm39) K1108R possibly damaging Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Myh3 T G 11: 66,974,915 (GRCm39) D219E probably damaging Het
Niban2 G A 2: 32,810,994 (GRCm39) V335M probably damaging Het
Or10g1b T C 14: 52,628,084 (GRCm39) I49V probably damaging Het
Or7e166 T C 9: 19,624,570 (GRCm39) L149P possibly damaging Het
Pi4ka A G 16: 17,111,817 (GRCm39) C1553R probably damaging Het
Plekhb1 C A 7: 100,294,150 (GRCm39) probably null Het
Polr3d A T 14: 70,678,199 (GRCm39) D165E possibly damaging Het
Prb1c T C 6: 132,338,819 (GRCm39) N133S unknown Het
Psmb1 A G 17: 15,710,478 (GRCm39) Y24H probably damaging Het
Rab11fip5 A G 6: 85,351,119 (GRCm39) L131P probably damaging Het
Raph1 A T 1: 60,532,657 (GRCm39) probably benign Het
Rmc1 A G 18: 12,322,013 (GRCm39) probably benign Het
Scgb2b27 T G 7: 33,711,484 (GRCm39) probably benign Het
Serpina10 T C 12: 103,592,920 (GRCm39) D264G probably damaging Het
Sftpb A G 6: 72,281,651 (GRCm39) T15A possibly damaging Het
Slc20a1 T C 2: 129,052,739 (GRCm39) F674L probably benign Het
Syne2 A T 12: 75,985,495 (GRCm39) N1648Y probably benign Het
Thsd7a G T 6: 12,332,016 (GRCm39) N1265K possibly damaging Het
Washc4 A T 10: 83,417,201 (GRCm39) R865S probably damaging Het
Zfp536 A G 7: 37,268,217 (GRCm39) S400P 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
R2878:Trem2 UTSW 17 48,658,141 (GRCm39) missense probably benign
R4825:Trem2 UTSW 17 48,658,719 (GRCm39) missense possibly damaging 0.86
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'- AATTGACAACAGAGTCCCCTG -3'
(R):5'- CTGCAACAGATACCTCTCAAGG -3'

Sequencing Primer
(F):5'- GAGTCCCCTGAGCCACATGAAG -3'
(R):5'- AAGGCTCCCATCGCTCC -3'
Posted On 2016-10-05