Incidental Mutation 'IGL02797:Treml2'
ID359985
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Treml2
Ensembl Gene ENSMUSG00000071068
Gene Nametriggering receptor expressed on myeloid cells-like 2
SynonymsLOC328833
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.056) question?
Stock #IGL02797
Quality Score
Status
Chromosome17
Chromosomal Location48300038-48312534 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 48302711 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 57 (A57V)
Ref Sequence ENSEMBL: ENSMUSP00000128215 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170941]
Predicted Effect possibly damaging
Transcript: ENSMUST00000170941
AA Change: A57V

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000128215
Gene: ENSMUSG00000071068
AA Change: A57V

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IG 31 129 3.13e-5 SMART
low complexity region 181 199 N/A INTRINSIC
transmembrane domain 268 290 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TREML2 is located in a gene cluster on chromosome 6 with the single Ig variable (IgV) domain activating receptors TREM1 (MIM 605085) and TREM2 (MIM 605086), but it has distinct structural and functional properties (Allcock et al., 2003 [PubMed 12645956]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A G 16: 20,368,464 M924T probably benign Het
B3gat2 A G 1: 23,815,279 Y218C probably damaging Het
Bcs1l T C 1: 74,590,461 probably null Het
C77080 C T 4: 129,223,311 R565H probably damaging Het
Cd109 T A 9: 78,661,713 I358N probably damaging Het
Cd276 T C 9: 58,537,436 D84G possibly damaging Het
Chsy1 T C 7: 66,171,664 F549S probably damaging Het
Clca2 T C 3: 145,081,263 N549S probably benign Het
Cma1 A G 14: 55,943,814 S32P possibly damaging Het
Col23a1 G A 11: 51,561,916 probably null Het
Ctps A T 4: 120,562,824 I131K probably benign Het
Cyp2w1 T C 5: 139,356,873 L441P probably damaging Het
Dnajc21 A G 15: 10,461,355 Y170H probably damaging Het
Eif3a A T 19: 60,772,726 L648Q probably damaging Het
Eif3l T A 15: 79,075,277 D6E probably benign Het
Fam228a A T 12: 4,731,484 L125Q probably damaging Het
Foxa2 A G 2: 148,044,125 C263R possibly damaging Het
Gm17455 A G 10: 60,403,328 E124G possibly damaging Het
Gm8882 T A 6: 132,363,045 probably null Het
Gpc6 T G 14: 116,925,982 L16R probably damaging Het
Hdac9 A G 12: 34,393,274 probably benign Het
Herc3 A G 6: 58,868,694 N400S probably benign Het
Herc4 G A 10: 63,316,807 probably null Het
Il12b A G 11: 44,410,353 probably null Het
Lama4 A G 10: 39,056,924 R599G probably null Het
Lrp1b T A 2: 41,671,057 E286V Het
Mink1 C T 11: 70,610,350 P784S probably damaging Het
Musk T C 4: 58,366,921 F513S probably benign Het
Nfasc T A 1: 132,610,448 D474V probably damaging Het
Nos2 T G 11: 78,940,344 F420V probably damaging Het
Olfr597 A T 7: 103,320,851 I147L probably benign Het
Pcdhb14 A G 18: 37,449,851 Y670C probably damaging Het
Polr1b A G 2: 129,102,979 E65G probably damaging Het
Ppp1r10 T G 17: 35,928,012 probably null Het
Prag1 C T 8: 36,139,501 R799C probably damaging Het
Ptch1 T C 13: 63,533,607 N485S probably benign Het
Rgsl1 T C 1: 153,807,708 T19A probably damaging Het
Sgpl1 A C 10: 61,101,728 S507A probably benign Het
Sgpp2 A G 1: 78,417,182 D274G probably benign Het
Skap1 A G 11: 96,713,017 D211G possibly damaging Het
Smc3 A G 19: 53,638,758 T830A probably benign Het
Smpd2 G A 10: 41,488,078 T215I possibly damaging Het
Sntg2 T G 12: 30,226,892 Y387S possibly damaging Het
Sorl1 T G 9: 42,037,059 D810A probably damaging Het
Spata5 A G 3: 37,458,316 probably benign Het
Spop T A 11: 95,482,083 I217N probably damaging Het
Stac2 T C 11: 98,043,519 R120G possibly damaging Het
Stau1 A T 2: 166,949,346 *496R probably null Het
Tmeff2 C T 1: 50,928,047 R34C probably damaging Het
Vmn2r15 T C 5: 109,297,384 D58G probably benign Het
Vmn2r7 T C 3: 64,691,245 I721M possibly damaging Het
Vmn2r70 C A 7: 85,559,087 M727I probably benign Het
Vwa8 T A 14: 78,925,262 C161S probably benign Het
Other mutations in Treml2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01767:Treml2 APN 17 48302810 missense probably benign
R0105:Treml2 UTSW 17 48302828 missense probably damaging 0.99
R0105:Treml2 UTSW 17 48302828 missense probably damaging 0.99
R0670:Treml2 UTSW 17 48307836 intron probably null
R1538:Treml2 UTSW 17 48302758 missense possibly damaging 0.77
R1796:Treml2 UTSW 17 48309502 makesense probably null
R4396:Treml2 UTSW 17 48308114 missense probably benign 0.00
R4679:Treml2 UTSW 17 48308175 missense probably benign 0.36
R4687:Treml2 UTSW 17 48309397 splice site probably null
R4801:Treml2 UTSW 17 48309159 missense probably benign 0.18
R4802:Treml2 UTSW 17 48309159 missense probably benign 0.18
R5314:Treml2 UTSW 17 48300573 missense probably damaging 0.99
R6791:Treml2 UTSW 17 48309219 missense probably benign 0.24
R6818:Treml2 UTSW 17 48302897 missense probably damaging 1.00
R6958:Treml2 UTSW 17 48308152 missense probably damaging 1.00
R7250:Treml2 UTSW 17 48309127 missense probably benign 0.05
R7535:Treml2 UTSW 17 48302819 missense probably damaging 1.00
Posted On2015-12-18