Incidental Mutation 'IGL02477:Trem3'
ID 294996
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trem3
Ensembl Gene ENSMUSG00000041754
Gene Name triggering receptor expressed on myeloid cells 3
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02477
Quality Score
Status
Chromosome 17
Chromosomal Location 48554805-48565869 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 48556864 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 112 (V112I)
Ref Sequence ENSEMBL: ENSMUSP00000044478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048065] [ENSMUST00000048782] [ENSMUST00000113251]
AlphaFold Q9JKE1
Predicted Effect probably benign
Transcript: ENSMUST00000048065
AA Change: V112I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000044478
Gene: ENSMUSG00000041754
AA Change: V112I

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IG 23 139 1.18e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000048782
SMART Domains Protein: ENSMUSP00000038636
Gene: ENSMUSG00000042265

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IG 26 134 1.25e-4 SMART
low complexity region 159 170 N/A INTRINSIC
transmembrane domain 202 224 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113251
SMART Domains Protein: ENSMUSP00000108877
Gene: ENSMUSG00000042265

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 40 51 N/A INTRINSIC
transmembrane domain 83 105 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is part of the immunoglobulin and lectin-like superfamily and is thought to function 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 has been reported to associate with the adaptor protein Dap-12 to form a receptor signaling complex that activates myeloid cells. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a knock-out allele of Trem1 and Trem3 exhibit increased susceptibility to P. aeruginosa infection with reduced neutrophil transepithelial migration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T A 4: 103,127,943 (GRCm39) I61F probably benign Het
Abr T C 11: 76,352,186 (GRCm39) K280E probably damaging Het
Acaca T C 11: 84,197,994 (GRCm39) probably benign Het
Cep131 C T 11: 119,961,406 (GRCm39) V582I probably damaging Het
Colec12 A G 18: 9,859,858 (GRCm39) N613D unknown Het
Cyp4f39 A G 17: 32,708,619 (GRCm39) T389A probably benign Het
D630003M21Rik T C 2: 158,059,408 (GRCm39) N164S probably benign Het
Eef1akmt2 A T 7: 132,452,318 (GRCm39) probably null Het
Elp3 T C 14: 65,800,760 (GRCm39) T283A probably benign Het
Fads3 C A 19: 10,033,806 (GRCm39) P397Q probably damaging Het
Fam171a1 T C 2: 3,203,612 (GRCm39) V198A possibly damaging Het
Fam171a2 T C 11: 102,330,854 (GRCm39) I208M probably benign Het
Fbxw17 G A 13: 50,577,853 (GRCm39) V119M possibly damaging Het
Gtf2ird1 G A 5: 134,408,832 (GRCm39) T140M probably damaging Het
Hspa14 C T 2: 3,497,661 (GRCm39) S277N probably damaging Het
Hspg2 C T 4: 137,271,823 (GRCm39) probably benign Het
Ing2 G T 8: 48,122,303 (GRCm39) R82S possibly damaging Het
Kat6a A G 8: 23,419,316 (GRCm39) Y693C probably damaging Het
Kcna7 A G 7: 45,059,047 (GRCm39) M445V probably benign Het
Lifr T G 15: 7,216,404 (GRCm39) I793S probably damaging Het
Lrrd1 T A 5: 3,915,770 (GRCm39) M789K probably benign Het
Myom3 T A 4: 135,506,679 (GRCm39) L484Q probably benign Het
Nav2 T A 7: 49,232,623 (GRCm39) M1860K probably damaging Het
Nipbl C T 15: 8,353,131 (GRCm39) probably null Het
Nsun7 T A 5: 66,433,992 (GRCm39) I214K probably damaging Het
Or5k17 T C 16: 58,746,126 (GRCm39) I269M probably benign Het
Or8c20 C T 9: 38,260,421 (GRCm39) S8L probably benign Het
Osm T A 11: 4,189,604 (GRCm39) N129K probably damaging Het
Plce1 C T 19: 38,707,997 (GRCm39) probably benign Het
Plch1 A G 3: 63,660,714 (GRCm39) F302L probably damaging Het
Pld2 T C 11: 70,431,751 (GRCm39) V27A possibly damaging Het
Prex2 A G 1: 11,274,378 (GRCm39) D1350G probably benign Het
Psme4 T A 11: 30,792,083 (GRCm39) V1190D probably damaging Het
Sema3g G T 14: 30,949,823 (GRCm39) R668L probably damaging Het
Sprr2f T A 3: 92,273,204 (GRCm39) M1K probably null Het
Sult6b2 G A 6: 142,747,447 (GRCm39) P101S probably damaging Het
Ttll9 T A 2: 152,842,117 (GRCm39) F324I possibly damaging Het
Ttn T A 2: 76,557,104 (GRCm39) D29967V probably damaging Het
Ubr4 A G 4: 139,163,516 (GRCm39) K2639E probably damaging Het
Vwce T C 19: 10,641,982 (GRCm39) probably null Het
Zbtb14 T A 17: 69,694,690 (GRCm39) D129E probably benign Het
Zmym6 C T 4: 126,972,295 (GRCm39) Q16* probably null Het
Other mutations in Trem3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01124:Trem3 APN 17 48,556,829 (GRCm39) missense probably damaging 1.00
IGL01414:Trem3 APN 17 48,556,843 (GRCm39) missense probably benign
IGL01951:Trem3 APN 17 48,556,903 (GRCm39) missense probably damaging 1.00
IGL01963:Trem3 APN 17 48,554,880 (GRCm39) missense possibly damaging 0.73
R2850:Trem3 UTSW 17 48,556,669 (GRCm39) missense probably benign 0.06
R3687:Trem3 UTSW 17 48,564,955 (GRCm39) missense probably damaging 0.98
R4360:Trem3 UTSW 17 48,556,801 (GRCm39) missense probably benign 0.43
R4581:Trem3 UTSW 17 48,556,639 (GRCm39) missense possibly damaging 0.92
R5116:Trem3 UTSW 17 48,556,580 (GRCm39) missense probably benign 0.00
R5137:Trem3 UTSW 17 48,556,756 (GRCm39) missense possibly damaging 0.93
R5894:Trem3 UTSW 17 48,565,483 (GRCm39) missense probably benign
R7074:Trem3 UTSW 17 48,556,909 (GRCm39) missense probably damaging 1.00
R7438:Trem3 UTSW 17 48,565,498 (GRCm39) makesense probably null
R7472:Trem3 UTSW 17 48,556,873 (GRCm39) missense probably benign 0.05
R7491:Trem3 UTSW 17 48,564,969 (GRCm39) missense probably benign 0.28
R8829:Trem3 UTSW 17 48,556,865 (GRCm39) missense probably benign 0.08
R8832:Trem3 UTSW 17 48,556,865 (GRCm39) missense probably benign 0.08
Posted On 2015-04-16