Incidental Mutation 'R7825:Treml1'
ID 602156
Institutional Source Beutler Lab
Gene Symbol Treml1
Ensembl Gene ENSMUSG00000023993
Gene Name triggering receptor expressed on myeloid cells-like 1
Synonyms TLT-1, 5430401J17Rik
MMRRC Submission 045879-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7825 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 48666944-48674204 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 48673784 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 270 (P270Q)
Ref Sequence ENSEMBL: ENSMUSP00000153300 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024792] [ENSMUST00000223956] [ENSMUST00000224001] [ENSMUST00000225849]
AlphaFold Q8K558
Predicted Effect probably damaging
Transcript: ENSMUST00000024792
AA Change: P265Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000024792
Gene: ENSMUSG00000023993
AA Change: P265Q

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IG 24 124 2.83e-3 SMART
transmembrane domain 179 201 N/A INTRINSIC
low complexity region 260 280 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000223956
Predicted Effect probably damaging
Transcript: ENSMUST00000224001
AA Change: P270Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000225849
AA Change: Q231K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Meta Mutation Damage Score 0.1066 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (55/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the triggering receptor expressed on myeloid cells-like (TREM) family. The encoded protein is a type 1 single Ig domain orphan receptor localized to the alpha-granule membranes of platelets. The encoded protein is involved in platelet aggregation, inflammation, and cellular activation and has been linked to Gray platelet syndrome. Alternative splicing results in multiple transcript variants [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a knock-out allele show a reduced platelet count, defective platelet aggregation, prolonged bleeding times, enhanced inflammatory hemorrhage, and increased susceptibility to death from endotoxin (LPS) challenge. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik C T 4: 137,182,654 (GRCm39) R270C probably damaging Het
Adprs C A 4: 126,215,489 (GRCm39) probably benign Het
Akp3 TCACCACCACCACCACCACCACCACCACCAC TCACCACCACCACCACCACCACCACCAC 1: 87,055,489 (GRCm39) probably benign Het
Ambra1 A G 2: 91,598,106 (GRCm39) H89R probably damaging Het
Atp1a1 T C 3: 101,493,485 (GRCm39) N540D probably benign Het
Cd38 A T 5: 44,058,797 (GRCm39) H137L probably damaging Het
Clasp1 T C 1: 118,473,123 (GRCm39) V3A probably benign Het
Cmya5 G T 13: 93,234,136 (GRCm39) H317Q possibly damaging Het
Cpeb2 A T 5: 43,394,882 (GRCm39) D95V probably damaging Het
Cyp2f2 G A 7: 26,828,678 (GRCm39) V183I probably benign Het
Dcst1 A G 3: 89,260,128 (GRCm39) L572P possibly damaging Het
Eif3e A C 15: 43,129,667 (GRCm39) probably null Het
Ephb4 T C 5: 137,370,699 (GRCm39) S911P probably damaging Het
Fam186b T C 15: 99,181,728 (GRCm39) T157A not run Het
Gnmt T C 17: 47,040,019 (GRCm39) D20G probably damaging Het
Gpatch8 A C 11: 102,372,268 (GRCm39) D423E unknown Het
Gtf3c2 T C 5: 31,315,715 (GRCm39) H790R probably damaging Het
Hepacam T C 9: 37,296,064 (GRCm39) I405T probably benign Het
Hspg2 T A 4: 137,286,160 (GRCm39) V3574E probably damaging Het
Ifi202b A C 1: 173,802,616 (GRCm39) F73V probably damaging Het
Kcnb1 A T 2: 166,947,892 (GRCm39) S319T probably damaging Het
Krt16 T A 11: 100,139,460 (GRCm39) D86V unknown Het
Krt76 T A 15: 101,795,938 (GRCm39) T411S possibly damaging Het
Myh8 A T 11: 67,194,538 (GRCm39) D1583V possibly damaging Het
Nav1 A T 1: 135,377,782 (GRCm39) V1689D probably damaging Het
Ncor2 T C 5: 125,114,141 (GRCm39) T611A possibly damaging Het
Nipbl T A 15: 8,320,971 (GRCm39) Y2712F probably damaging Het
Ntng2 T A 2: 29,094,090 (GRCm39) H427L probably benign Het
Pcdhga4 T A 18: 37,820,374 (GRCm39) L641Q probably damaging Het
Phc1 T C 6: 122,299,340 (GRCm39) K623R probably benign Het
Polr1b C A 2: 128,967,464 (GRCm39) F952L probably damaging Het
Prcc T A 3: 87,777,052 (GRCm39) E307D possibly damaging Het
Prss27 T C 17: 24,261,932 (GRCm39) F80S probably damaging Het
Rsf1 G GACGGCGGCC 7: 97,229,116 (GRCm39) probably benign Het
Serpina11 T C 12: 103,950,836 (GRCm39) Q295R probably benign Het
Sgk2 G T 2: 162,848,801 (GRCm39) V284L possibly damaging Het
Slc15a2 C T 16: 36,573,396 (GRCm39) V603I possibly damaging Het
Smpd3 A C 8: 106,982,254 (GRCm39) C617G probably benign Het
Stat1 A G 1: 52,190,467 (GRCm39) H574R probably damaging Het
Ston1 T C 17: 88,943,881 (GRCm39) V429A possibly damaging Het
Tep1 T C 14: 51,081,344 (GRCm39) probably null Het
Tesk1 A C 4: 43,447,143 (GRCm39) R510S probably damaging Het
Themis A G 10: 28,658,470 (GRCm39) E499G probably benign Het
Thra G A 11: 98,653,774 (GRCm39) V202I probably benign Het
Tiam1 A T 16: 89,694,977 (GRCm39) M160K probably benign Het
Tmc1 T C 19: 20,782,009 (GRCm39) I570V possibly damaging Het
Ttc39d A G 17: 80,523,575 (GRCm39) N78S probably damaging Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Ttll3 AAGTA AAGTAGAGTA 6: 113,376,120 (GRCm39) probably null Het
Ube3b T A 5: 114,539,373 (GRCm39) L388Q probably damaging Het
Ugt2b35 T A 5: 87,149,218 (GRCm39) C156* probably null Het
Vmn1r35 A T 6: 66,656,443 (GRCm39) C76S probably damaging Het
Wwc2 A G 8: 48,443,197 (GRCm39) L12P probably damaging Het
Zfat T C 15: 68,051,769 (GRCm39) E668G probably benign Het
Zfp40 T C 17: 23,395,301 (GRCm39) T429A probably benign Het
Other mutations in Treml1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Treml1 APN 17 48,672,627 (GRCm39) splice site probably benign
IGL01868:Treml1 APN 17 48,673,035 (GRCm39) missense probably benign 0.41
IGL02543:Treml1 APN 17 48,667,459 (GRCm39) missense possibly damaging 0.93
IGL03136:Treml1 APN 17 48,671,879 (GRCm39) splice site probably benign
IGL03242:Treml1 APN 17 48,673,016 (GRCm39) splice site probably benign
R0047:Treml1 UTSW 17 48,672,008 (GRCm39) nonsense probably null
R0047:Treml1 UTSW 17 48,672,008 (GRCm39) nonsense probably null
R0226:Treml1 UTSW 17 48,667,486 (GRCm39) missense probably damaging 0.99
R1385:Treml1 UTSW 17 48,667,226 (GRCm39) missense probably damaging 1.00
R1602:Treml1 UTSW 17 48,671,917 (GRCm39) missense probably damaging 0.97
R4379:Treml1 UTSW 17 48,667,424 (GRCm39) missense probably damaging 1.00
R4865:Treml1 UTSW 17 48,673,885 (GRCm39) missense probably benign 0.00
R5837:Treml1 UTSW 17 48,667,180 (GRCm39) missense possibly damaging 0.74
R7102:Treml1 UTSW 17 48,673,700 (GRCm39) missense probably damaging 0.98
R7107:Treml1 UTSW 17 48,667,247 (GRCm39) missense probably damaging 1.00
R7442:Treml1 UTSW 17 48,673,719 (GRCm39) missense probably damaging 1.00
R8843:Treml1 UTSW 17 48,673,852 (GRCm39) missense probably damaging 1.00
R8997:Treml1 UTSW 17 48,667,466 (GRCm39) missense probably damaging 1.00
R9229:Treml1 UTSW 17 48,673,774 (GRCm39) missense probably benign
R9510:Treml1 UTSW 17 48,673,771 (GRCm39) missense probably damaging 0.96
R9619:Treml1 UTSW 17 48,672,006 (GRCm39) missense probably benign 0.12
RF058:Treml1 UTSW 17 48,666,975 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ACTTTGTGTGACTTGCCTGC -3'
(R):5'- AAAGGCAGAGCTAGTTGGCC -3'

Sequencing Primer
(F):5'- GACATTCCACATGTGAGG -3'
(R):5'- AGAATTCCCCAGGGGTGATC -3'
Posted On 2019-12-03