Incidental Mutation 'IGL01963:Trem3'
ID182474
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trem3
Ensembl Gene ENSMUSG00000041754
Gene Nametriggering receptor expressed on myeloid cells 3
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01963
Quality Score
Status
Chromosome17
Chromosomal Location48247777-48258841 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 48247852 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 2 (S2P)
Ref Sequence ENSEMBL: ENSMUSP00000044478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048065] [ENSMUST00000048782] [ENSMUST00000113251]
Predicted Effect possibly damaging
Transcript: ENSMUST00000048065
AA Change: S2P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000044478
Gene: ENSMUSG00000041754
AA Change: S2P

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610042L04Rik G A 14: 4,350,856 G130D probably damaging Het
Abca8b T A 11: 109,971,763 D392V probably damaging Het
Clptm1l T A 13: 73,617,569 probably benign Het
Creb3l1 G A 2: 91,993,333 T178I probably benign Het
Ctsd A G 7: 142,376,599 probably null Het
Dcstamp A T 15: 39,760,359 I401F possibly damaging Het
Dnah5 A G 15: 28,370,536 D2874G probably benign Het
Fgfr1op A T 17: 8,192,277 D354V probably damaging Het
Fli1 T A 9: 32,424,207 K310* probably null Het
Fndc4 C T 5: 31,295,212 probably null Het
Fuk A G 8: 110,893,402 F281S probably damaging Het
Gc G A 5: 89,422,122 probably benign Het
Krtap26-1 A G 16: 88,647,668 C22R probably damaging Het
Obscn C T 11: 59,020,541 G6422S probably benign Het
Olfr1444 T A 19: 12,862,382 F202L probably benign Het
Olfr418 T A 1: 173,270,352 M59K probably damaging Het
Olfr975 C A 9: 39,950,240 C177F probably damaging Het
Pgr C T 9: 8,922,668 P613L probably damaging Het
Pnpla8 C A 12: 44,296,033 A524E possibly damaging Het
Psma2 A T 13: 14,619,363 I105F probably damaging Het
Ptprg A G 14: 12,220,661 R458G probably damaging Het
Rbm44 A G 1: 91,163,108 I755V probably benign Het
Rev3l A G 10: 39,822,737 K1077E possibly damaging Het
Rps20 A C 4: 3,834,494 probably benign Het
Sel1l3 A C 5: 53,200,338 V104G probably damaging Het
Sirpb1c T C 3: 15,838,773 N89S probably benign Het
Slc25a16 G A 10: 62,930,441 probably null Het
Sulf1 C T 1: 12,818,507 R339C probably damaging Het
Tedc2 C T 17: 24,217,952 A270T probably benign Het
Vps37a G T 8: 40,540,730 Q255H probably damaging Het
Zfp352 C T 4: 90,224,154 A177V possibly damaging Het
Other mutations in Trem3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01124:Trem3 APN 17 48249801 missense probably damaging 1.00
IGL01414:Trem3 APN 17 48249815 missense probably benign
IGL01951:Trem3 APN 17 48249875 missense probably damaging 1.00
IGL02477:Trem3 APN 17 48249836 missense probably benign
R2850:Trem3 UTSW 17 48249641 missense probably benign 0.06
R3687:Trem3 UTSW 17 48257927 missense probably damaging 0.98
R4360:Trem3 UTSW 17 48249773 missense probably benign 0.43
R4581:Trem3 UTSW 17 48249611 missense possibly damaging 0.92
R5116:Trem3 UTSW 17 48249552 missense probably benign 0.00
R5137:Trem3 UTSW 17 48249728 missense possibly damaging 0.93
R5894:Trem3 UTSW 17 48258455 missense probably benign
R7074:Trem3 UTSW 17 48249881 missense probably damaging 1.00
R7438:Trem3 UTSW 17 48258470 makesense probably null
R7472:Trem3 UTSW 17 48249845 missense probably benign 0.05
R7491:Trem3 UTSW 17 48257941 missense probably benign 0.28
Posted On2014-05-07