Incidental Mutation 'IGL01951:Trem3'
ID181056
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 #IGL01951
Quality Score
Status
Chromosome17
Chromosomal Location48247777-48258841 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 48249875 bp
ZygosityHeterozygous
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]
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: 103,235,668 I152T probably damaging Het
A2m C T 6: 121,667,190 T949I possibly damaging Het
Begain T A 12: 109,033,645 Y605F probably benign Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Cavin2 A G 1: 51,289,411 E9G possibly damaging Het
Cdh16 A G 8: 104,617,691 V72A probably damaging Het
Dgkd T C 1: 87,916,916 L268P probably damaging Het
Eps8 T A 6: 137,537,671 Y28F possibly damaging Het
Erap1 T C 13: 74,675,295 I816T probably damaging Het
Fli1 A T 9: 32,461,364 F126Y probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21957 A T 7: 125,219,832 noncoding transcript Het
Gm5862 A C 5: 26,022,771 W41G probably benign Het
Gm9833 G A 3: 10,089,058 V296M probably damaging Het
Hectd1 T A 12: 51,794,497 R618* probably null Het
Homez T C 14: 54,858,176 E25G probably damaging Het
Ifngr1 C A 10: 19,609,454 N400K possibly damaging Het
Lin7a G A 10: 107,412,025 V186I possibly damaging Het
Lpcat2 G T 8: 92,918,047 S448I probably damaging Het
Lrp10 C A 14: 54,468,662 Y436* probably null Het
Myo1f A G 17: 33,598,017 H707R possibly damaging Het
Neurl4 A G 11: 69,909,623 N1147D probably damaging Het
Olfr1272 G T 2: 90,282,007 D189E probably damaging Het
Olfr1414 T C 1: 92,511,131 D299G probably null Het
Pak6 T C 2: 118,693,260 S299P probably benign Het
Panx2 A G 15: 89,068,767 D487G probably damaging Het
Sbspon T C 1: 15,858,934 N211S probably benign Het
Sgsm1 T A 5: 113,286,767 probably benign Het
Slc38a4 T C 15: 97,019,763 Y27C probably benign Het
Sorbs1 A G 19: 40,318,016 probably benign Het
Ssh1 A T 5: 113,966,247 Y35N possibly damaging Het
Stx2 A T 5: 128,992,265 F127L probably damaging Het
Synm A T 7: 67,739,137 I325N probably damaging Het
Szt2 A G 4: 118,376,493 probably benign Het
Tbc1d23 A G 16: 57,186,685 probably benign Het
Tmem50a T C 4: 134,898,428 probably benign Het
Tpx2 T G 2: 152,884,176 L354V probably benign Het
Trafd1 G A 5: 121,374,031 R399C possibly damaging Het
Ubp1 T A 9: 113,951,618 Y92* probably null Het
Wnk1 T A 6: 119,963,485 T62S probably damaging Het
Zbtb6 T C 2: 37,429,331 E195G probably benign Het
Zc3h15 A G 2: 83,661,485 D306G probably 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
IGL01963:Trem3 APN 17 48247852 missense possibly damaging 0.73
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