Incidental Mutation 'IGL01951:Trem3'
ID 181056
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 # IGL01951
Quality Score
Status
Chromosome 17
Chromosomal Location 48554805-48565869 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 48556903 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 125 (R125W)
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: R125W

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000044478
Gene: ENSMUSG00000041754
AA Change: R125W

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik A G 4: 103,092,865 (GRCm39) I152T probably damaging Het
A2m C T 6: 121,644,149 (GRCm39) T949I possibly damaging Het
Begain T A 12: 108,999,571 (GRCm39) Y605F probably benign Het
Cavin2 A G 1: 51,328,570 (GRCm39) E9G possibly damaging Het
Cdh16 A G 8: 105,344,323 (GRCm39) V72A probably damaging Het
Dgkd T C 1: 87,844,638 (GRCm39) L268P probably damaging Het
Eps8 T A 6: 137,514,669 (GRCm39) Y28F possibly damaging Het
Erap1 T C 13: 74,823,414 (GRCm39) I816T probably damaging Het
Fli1 A T 9: 32,372,660 (GRCm39) F126Y probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21957 A T 7: 124,819,004 (GRCm39) noncoding transcript Het
Gm5862 A C 5: 26,227,769 (GRCm39) W41G probably benign Het
Hectd1 T A 12: 51,841,280 (GRCm39) R618* probably null Het
Homez T C 14: 55,095,633 (GRCm39) E25G probably damaging Het
Ifngr1 C A 10: 19,485,202 (GRCm39) N400K possibly damaging Het
Lin7a G A 10: 107,247,886 (GRCm39) V186I possibly damaging Het
Lpcat2 G T 8: 93,644,675 (GRCm39) S448I probably damaging Het
Lrp10 C A 14: 54,706,119 (GRCm39) Y436* probably null Het
Myef2l G A 3: 10,154,118 (GRCm39) V296M probably damaging Het
Myo1f A G 17: 33,816,991 (GRCm39) H707R possibly damaging Het
Neurl4 A G 11: 69,800,449 (GRCm39) N1147D probably damaging Het
Or4b1b G T 2: 90,112,351 (GRCm39) D189E probably damaging Het
Or6b3 T C 1: 92,438,853 (GRCm39) D299G probably null Het
Pak6 T C 2: 118,523,741 (GRCm39) S299P probably benign Het
Panx2 A G 15: 88,952,970 (GRCm39) D487G probably damaging Het
Sbspon T C 1: 15,929,158 (GRCm39) N211S probably benign Het
Sgsm1 T A 5: 113,434,633 (GRCm39) probably benign Het
Slc38a4 T C 15: 96,917,644 (GRCm39) Y27C probably benign Het
Sorbs1 A G 19: 40,306,460 (GRCm39) probably benign Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Ssh1 A T 5: 114,104,308 (GRCm39) Y35N possibly damaging Het
Stx2 A T 5: 129,069,329 (GRCm39) F127L probably damaging Het
Synm A T 7: 67,388,885 (GRCm39) I325N probably damaging Het
Szt2 A G 4: 118,233,690 (GRCm39) probably benign Het
Tbc1d23 A G 16: 57,007,048 (GRCm39) probably benign Het
Tmem50a T C 4: 134,625,739 (GRCm39) probably benign Het
Tpx2 T G 2: 152,726,096 (GRCm39) L354V probably benign Het
Trafd1 G A 5: 121,512,094 (GRCm39) R399C possibly damaging Het
Ubp1 T A 9: 113,780,686 (GRCm39) Y92* probably null Het
Wnk1 T A 6: 119,940,446 (GRCm39) T62S probably damaging Het
Zbtb6 T C 2: 37,319,343 (GRCm39) E195G probably benign Het
Zc3h15 A G 2: 83,491,829 (GRCm39) D306G probably damaging 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
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 2014-05-07