Incidental Mutation 'IGL01124:Trem3'
ID 53096
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 # IGL01124
Quality Score
Status
Chromosome 17
Chromosomal Location 48554805-48565869 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 48556829 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 100 (L100R)
Ref Sequence ENSEMBL: ENSMUSP00000044478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048065] [ENSMUST00000048782] [ENSMUST00000113251]
AlphaFold Q9JKE1
Predicted Effect probably damaging
Transcript: ENSMUST00000048065
AA Change: L100R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000044478
Gene: ENSMUSG00000041754
AA Change: L100R

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
Ascc3 T C 10: 50,608,569 (GRCm39) I1477T probably damaging Het
Baat A G 4: 49,490,391 (GRCm39) I231T possibly damaging Het
Cactin T C 10: 81,160,184 (GRCm39) S426P possibly damaging Het
Cfh A T 1: 140,110,999 (GRCm39) F6I probably benign Het
Clec4a2 C T 6: 123,116,037 (GRCm39) probably benign Het
Col12a1 A G 9: 79,611,129 (GRCm39) S148P probably damaging Het
Cubn G T 2: 13,482,904 (GRCm39) Q281K possibly damaging Het
Cyp2c65 T A 19: 39,081,954 (GRCm39) probably benign Het
Dennd4b A T 3: 90,176,381 (GRCm39) T243S possibly damaging Het
Epha8 C T 4: 136,663,394 (GRCm39) G518D probably damaging Het
Fmo3 G A 1: 162,785,830 (GRCm39) R387C probably damaging Het
Foxo6 T C 4: 120,126,349 (GRCm39) T149A probably benign Het
Fthl17d T C X: 8,852,827 (GRCm39) E3G probably benign Het
Gm10521 A G 1: 171,724,010 (GRCm39) Y107C unknown Het
Ipo8 T A 6: 148,678,874 (GRCm39) E908V probably benign Het
Kcnd2 T C 6: 21,217,216 (GRCm39) S307P probably damaging Het
Klf3 A G 5: 64,974,123 (GRCm39) M3V possibly damaging Het
Ldb3 T A 14: 34,266,157 (GRCm39) E417D probably damaging Het
Lrch1 A T 14: 74,994,503 (GRCm39) D673E probably benign Het
Map3k4 T C 17: 12,474,087 (GRCm39) K865E probably benign Het
Muc4 G A 16: 32,589,104 (GRCm39) V754I possibly damaging Het
Nek4 A G 14: 30,692,219 (GRCm39) N223D probably benign Het
Nell2 G A 15: 95,194,060 (GRCm39) T551M probably damaging Het
Nup155 T A 15: 8,183,163 (GRCm39) M1241K probably damaging Het
Or2t49 A T 11: 58,393,020 (GRCm39) S121T possibly damaging Het
Or5i1 T C 2: 87,613,720 (GRCm39) F279L probably benign Het
Orc1 T C 4: 108,445,984 (GRCm39) probably benign Het
Pclo T C 5: 14,764,343 (GRCm39) I4272T unknown Het
Ppp1r12c A G 7: 4,500,344 (GRCm39) probably benign Het
Prcp A G 7: 92,559,416 (GRCm39) E160G probably benign Het
Prl3d3 G A 13: 27,343,090 (GRCm39) R92Q possibly damaging Het
Prl6a1 T A 13: 27,500,347 (GRCm39) M106K possibly damaging Het
Slc22a1 T A 17: 12,869,749 (GRCm39) probably benign Het
Slco3a1 A G 7: 73,934,295 (GRCm39) Y626H probably damaging Het
Smtn A G 11: 3,476,326 (GRCm39) probably null Het
Snx30 T C 4: 59,886,404 (GRCm39) probably benign Het
Spock2 A G 10: 59,967,209 (GRCm39) D393G unknown Het
Trpm2 A T 10: 77,781,659 (GRCm39) probably benign Het
Ubr1 T C 2: 120,745,386 (GRCm39) M901V probably benign Het
Usp28 T A 9: 48,948,513 (GRCm39) S873T probably damaging Het
Vmn1r86 T C 7: 12,836,856 (GRCm39) I7V probably benign Het
Xirp2 T C 2: 67,338,959 (GRCm39) L400P probably damaging Het
Other mutations in Trem3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02477:Trem3 APN 17 48,556,864 (GRCm39) missense probably benign
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 2013-06-21