Incidental Mutation 'IGL01087:Trem2'
ID53037
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trem2
Ensembl Gene ENSMUSG00000023992
Gene Nametriggering receptor expressed on myeloid cells 2
SynonymsTrem2a, Trem2b, Trem2c
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.070) question?
Stock #IGL01087
Quality Score
Status
Chromosome17
Chromosomal Location48346401-48354147 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 48351928 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 222 (T222I)
Ref Sequence ENSEMBL: ENSMUSP00000024791 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024791] [ENSMUST00000113237]
Predicted Effect probably damaging
Transcript: ENSMUST00000024791
AA Change: T222I

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000024791
Gene: ENSMUSG00000023992
AA Change: T222I

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 silent
Transcript: ENSMUST00000113237
SMART Domains Protein: ENSMUSP00000108863
Gene: ENSMUSG00000023992

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
Coding Region Coverage
Validation Efficiency
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik A T 6: 83,162,788 probably null Het
Abca6 C A 11: 110,191,650 A1166S probably benign Het
Arhgdib C A 6: 136,933,624 K46N probably damaging Het
Ash1l T A 3: 89,063,902 V2507D probably damaging Het
B4galnt1 A T 10: 127,166,191 I63F probably damaging Het
Bclaf1 A G 10: 20,325,310 D394G probably damaging Het
Btbd10 T C 7: 113,316,556 D442G probably damaging Het
Cd44 A T 2: 102,822,262 L492H probably damaging Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Chsy1 T G 7: 66,172,126 V703G possibly damaging Het
Clrn2 T C 5: 45,463,969 probably benign Het
Crtc3 T C 7: 80,598,739 probably benign Het
Cul1 A G 6: 47,509,044 T342A probably benign Het
Dgki T C 6: 37,012,911 D631G probably damaging Het
Eif3b T C 5: 140,441,107 I706T probably damaging Het
Fam120a A G 13: 48,902,073 L713P probably damaging Het
I830077J02Rik C A 3: 105,928,733 probably null Het
Jmjd8 A C 17: 25,829,171 probably benign Het
Kmt5a T C 5: 124,451,380 probably benign Het
Krt87 C A 15: 101,431,825 C486F probably benign Het
Lrp2 A T 2: 69,524,073 N470K probably damaging Het
Med1 C A 11: 98,180,285 D79Y probably damaging Het
Myo1d A G 11: 80,682,435 S189P probably damaging Het
Myo9a T A 9: 59,790,078 Y381N possibly damaging Het
Nipbl C A 15: 8,350,497 S937I possibly damaging Het
Nlrp4g A G 9: 124,353,858 noncoding transcript Het
Nutm2 A G 13: 50,469,629 T121A probably damaging Het
Olfr93 C T 17: 37,151,441 C177Y probably damaging Het
Opa1 C T 16: 29,586,997 P127S probably damaging Het
Pcdh15 A T 10: 74,342,632 I574F possibly damaging Het
Pcnx G A 12: 81,995,339 probably benign Het
Prex2 A G 1: 11,068,104 T136A probably benign Het
Prph2 A G 17: 46,911,159 T155A probably damaging Het
Rsl1d1 T C 16: 11,194,675 K296E possibly damaging Het
Syne1 A T 10: 5,425,708 I128N probably damaging Het
Tlk1 A T 2: 70,752,316 N156K possibly damaging Het
Trip12 A T 1: 84,757,859 F872L probably damaging Het
Trrap T A 5: 144,846,539 S3393T probably damaging Het
Vwa8 T A 14: 78,935,229 S304T probably benign Het
Zc3h7a T C 16: 11,153,182 T328A probably benign Het
Other mutations in Trem2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5506:Trem2 UTSW 17 48351774 missense probably benign 0.03
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
Posted On2013-06-21