Incidental Mutation 'R9199:Tlr1'
ID 698095
Institutional Source Beutler Lab
Gene Symbol Tlr1
Ensembl Gene ENSMUSG00000044827
Gene Name toll-like receptor 1
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9199 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 65082022-65090906 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65083534 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 348 (S348P)
Ref Sequence ENSEMBL: ENSMUSP00000060793 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059349] [ENSMUST00000197315]
AlphaFold Q9EPQ1
Predicted Effect possibly damaging
Transcript: ENSMUST00000059349
AA Change: S348P

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000060793
Gene: ENSMUSG00000044827
AA Change: S348P

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
LRR 71 94 5.72e0 SMART
LRR 116 140 3.27e2 SMART
low complexity region 240 256 N/A INTRINSIC
LRR 374 397 9.75e0 SMART
LRR 400 423 4.98e1 SMART
low complexity region 427 438 N/A INTRINSIC
LRR 448 469 6.23e1 SMART
LRR 470 494 4.57e0 SMART
LRRCT 527 581 2.5e-11 SMART
transmembrane domain 583 605 N/A INTRINSIC
TIR 639 782 4.03e-41 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000197315
AA Change: S348P

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000142500
Gene: ENSMUSG00000044827
AA Change: S348P

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
LRR 71 94 5.72e0 SMART
Pfam:LRR_1 97 114 2.3e-2 PFAM
LRR 116 140 3.27e2 SMART
low complexity region 240 256 N/A INTRINSIC
LRR 374 397 9.75e0 SMART
LRR 400 423 4.98e1 SMART
low complexity region 427 438 N/A INTRINSIC
LRR 448 469 6.23e1 SMART
LRR 470 494 4.57e0 SMART
LRRCT 527 581 2.5e-11 SMART
transmembrane domain 583 605 N/A INTRINSIC
TIR 639 782 4.03e-41 SMART
Meta Mutation Damage Score 0.1115 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (51/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is ubiquitously expressed, and at higher levels than other TLR genes. Different length transcripts presumably resulting from use of alternative polyadenylation site, and/or from alternative splicing, have been noted for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display decreased macrophage peptoglycan-stimulated IL-6 production. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110057P08Rik A T 16: 88,971,654 (GRCm39) probably benign Het
Abca9 A T 11: 110,056,770 (GRCm39) C17S possibly damaging Het
Acan T G 7: 78,736,057 (GRCm39) F168V probably damaging Het
Acp7 A G 7: 28,316,591 (GRCm39) L128P probably benign Het
Agtpbp1 C A 13: 59,613,808 (GRCm39) M1044I probably benign Het
Arhgef3 A G 14: 27,122,244 (GRCm39) Q361R possibly damaging Het
Brdt A T 5: 107,498,029 (GRCm39) R235* probably null Het
Cacna1d A G 14: 29,764,893 (GRCm39) S2013P probably benign Het
Cacna2d4 T A 6: 119,244,787 (GRCm39) D274E probably benign Het
Ccdc24 T A 4: 117,728,313 (GRCm39) I144F probably null Het
Ceacam5 C G 7: 17,479,350 (GRCm39) L156V probably benign Het
Cenpn G A 8: 117,664,014 (GRCm39) probably null Het
Cfap69 A T 5: 5,668,952 (GRCm39) V385E possibly damaging Het
Cldnd1 A G 16: 58,553,070 (GRCm39) H177R probably damaging Het
Cr1l A T 1: 194,786,177 (GRCm39) V439D probably benign Het
Cul2 A G 18: 3,423,577 (GRCm39) N329S probably benign Het
Cyp2c66 A G 19: 39,130,800 (GRCm39) K138R probably benign Het
Ddx46 G A 13: 55,825,342 (GRCm39) E996K probably damaging Het
Dnah14 A G 1: 181,478,566 (GRCm39) K1444E possibly damaging Het
Evl G A 12: 108,647,814 (GRCm39) probably null Het
Flnc C T 6: 29,441,490 (GRCm39) T424I probably benign Het
Gadd45gip1 T A 8: 85,559,128 (GRCm39) V70E probably damaging Het
Garem2 A G 5: 30,319,471 (GRCm39) H311R probably damaging Het
Gm32742 G C 9: 51,060,607 (GRCm39) H899D possibly damaging Het
Gm5148 C T 3: 37,768,989 (GRCm39) C77Y probably benign Het
Gm5460 A G 14: 33,758,393 (GRCm39) D141G possibly damaging Het
Kcnj8 T C 6: 142,512,118 (GRCm39) N163S probably damaging Het
Klri1 A T 6: 129,674,264 (GRCm39) *249R probably null Het
Kmt5b A G 19: 3,865,525 (GRCm39) D863G probably damaging Het
Ltbp2 G T 12: 84,832,750 (GRCm39) T1538K probably benign Het
Or51ah3 G A 7: 103,210,143 (GRCm39) G153D probably damaging Het
Or5b120 A G 19: 13,480,436 (GRCm39) H243R probably damaging Het
Pheta2 A T 15: 82,227,877 (GRCm39) E132V probably damaging Het
Pramel16 A G 4: 143,675,656 (GRCm39) L390P probably damaging Het
Ptchd3 A G 11: 121,721,741 (GRCm39) I205V probably benign Het
Rab8b G A 9: 66,758,641 (GRCm39) A152V probably damaging Het
Rasef T C 4: 73,658,625 (GRCm39) D343G possibly damaging Het
Rcan2 G A 17: 44,264,423 (GRCm39) V28I probably benign Het
Sec1 G A 7: 45,328,009 (GRCm39) T346M probably benign Het
Sgk1 T A 10: 21,758,558 (GRCm39) N7K probably damaging Het
Slc39a12 A T 2: 14,394,321 (GRCm39) I64F possibly damaging Het
Spock3 A G 8: 63,798,764 (GRCm39) T259A probably damaging Het
Sypl1 A T 12: 33,016,463 (GRCm39) probably benign Het
Teddm2 G T 1: 153,726,767 (GRCm39) Q36K probably damaging Het
Ttll12 A G 15: 83,466,559 (GRCm39) F336S probably damaging Het
Ttll8 G A 15: 88,798,818 (GRCm39) P639L probably benign Het
Usp24 T C 4: 106,244,681 (GRCm39) V1212A probably damaging Het
Vcan C A 13: 89,838,615 (GRCm39) G2310* probably null Het
Vmn2r104 A T 17: 20,262,097 (GRCm39) N344K probably damaging Het
Zfp281 A G 1: 136,553,643 (GRCm39) N207S probably benign Het
Zfp534 T A 4: 147,760,439 (GRCm39) M77L probably benign Het
Zfp819 G A 7: 43,267,203 (GRCm39) S562N probably benign Het
Zmym1 C T 4: 126,944,623 (GRCm39) C188Y possibly damaging Het
Other mutations in Tlr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00571:Tlr1 APN 5 65,083,777 (GRCm39) missense probably benign 0.01
IGL01324:Tlr1 APN 5 65,082,522 (GRCm39) missense probably damaging 1.00
IGL01564:Tlr1 APN 5 65,083,189 (GRCm39) missense probably damaging 1.00
IGL01663:Tlr1 APN 5 65,082,416 (GRCm39) missense possibly damaging 0.48
IGL01689:Tlr1 APN 5 65,083,122 (GRCm39) missense probably damaging 0.97
IGL01749:Tlr1 APN 5 65,083,290 (GRCm39) nonsense probably null
IGL01751:Tlr1 APN 5 65,083,290 (GRCm39) nonsense probably null
IGL01769:Tlr1 APN 5 65,083,290 (GRCm39) nonsense probably null
IGL01899:Tlr1 APN 5 65,084,359 (GRCm39) missense probably damaging 0.97
IGL02197:Tlr1 APN 5 65,083,797 (GRCm39) missense probably damaging 1.00
IGL02295:Tlr1 APN 5 65,083,290 (GRCm39) nonsense probably null
IGL02308:Tlr1 APN 5 65,083,290 (GRCm39) nonsense probably null
IGL02309:Tlr1 APN 5 65,083,290 (GRCm39) nonsense probably null
IGL02311:Tlr1 APN 5 65,083,290 (GRCm39) nonsense probably null
IGL02591:Tlr1 APN 5 65,084,059 (GRCm39) missense probably damaging 1.00
IGL02739:Tlr1 APN 5 65,084,469 (GRCm39) missense probably benign 0.41
IGL03206:Tlr1 APN 5 65,082,400 (GRCm39) missense probably damaging 0.99
IGL03055:Tlr1 UTSW 5 65,083,939 (GRCm39) missense probably benign 0.05
R0315:Tlr1 UTSW 5 65,084,271 (GRCm39) missense probably damaging 0.99
R0317:Tlr1 UTSW 5 65,083,310 (GRCm39) nonsense probably null
R0511:Tlr1 UTSW 5 65,083,963 (GRCm39) missense probably damaging 0.98
R1539:Tlr1 UTSW 5 65,084,319 (GRCm39) missense probably damaging 1.00
R1552:Tlr1 UTSW 5 65,084,203 (GRCm39) missense probably damaging 1.00
R1835:Tlr1 UTSW 5 65,083,043 (GRCm39) missense probably benign 0.01
R1933:Tlr1 UTSW 5 65,082,781 (GRCm39) missense possibly damaging 0.94
R1956:Tlr1 UTSW 5 65,082,520 (GRCm39) missense probably damaging 1.00
R2099:Tlr1 UTSW 5 65,082,411 (GRCm39) missense probably damaging 1.00
R2507:Tlr1 UTSW 5 65,082,639 (GRCm39) missense probably damaging 1.00
R2508:Tlr1 UTSW 5 65,082,639 (GRCm39) missense probably damaging 1.00
R2937:Tlr1 UTSW 5 65,083,251 (GRCm39) missense probably damaging 0.96
R2938:Tlr1 UTSW 5 65,083,251 (GRCm39) missense probably damaging 0.96
R3033:Tlr1 UTSW 5 65,082,912 (GRCm39) missense probably damaging 1.00
R4164:Tlr1 UTSW 5 65,084,545 (GRCm39) missense possibly damaging 0.47
R4226:Tlr1 UTSW 5 65,083,060 (GRCm39) missense probably damaging 0.96
R4366:Tlr1 UTSW 5 65,083,180 (GRCm39) missense probably benign 0.00
R5009:Tlr1 UTSW 5 65,083,567 (GRCm39) missense probably damaging 1.00
R5029:Tlr1 UTSW 5 65,083,024 (GRCm39) missense probably damaging 0.97
R5069:Tlr1 UTSW 5 65,083,743 (GRCm39) missense probably benign 0.01
R5186:Tlr1 UTSW 5 65,082,564 (GRCm39) missense probably damaging 1.00
R5336:Tlr1 UTSW 5 65,083,145 (GRCm39) missense probably damaging 1.00
R5500:Tlr1 UTSW 5 65,084,441 (GRCm39) missense probably benign 0.08
R5503:Tlr1 UTSW 5 65,083,635 (GRCm39) missense probably damaging 0.99
R5577:Tlr1 UTSW 5 65,083,428 (GRCm39) missense possibly damaging 0.94
R6141:Tlr1 UTSW 5 65,082,556 (GRCm39) missense possibly damaging 0.92
R6210:Tlr1 UTSW 5 65,082,629 (GRCm39) missense probably damaging 1.00
R6238:Tlr1 UTSW 5 65,084,472 (GRCm39) missense possibly damaging 0.86
R6284:Tlr1 UTSW 5 65,084,442 (GRCm39) missense possibly damaging 0.93
R6311:Tlr1 UTSW 5 65,084,188 (GRCm39) missense probably damaging 0.99
R7021:Tlr1 UTSW 5 65,083,056 (GRCm39) missense possibly damaging 0.75
R7140:Tlr1 UTSW 5 65,083,021 (GRCm39) missense probably benign 0.01
R7234:Tlr1 UTSW 5 65,084,067 (GRCm39) missense probably damaging 0.96
R7278:Tlr1 UTSW 5 65,084,115 (GRCm39) missense probably benign 0.03
R7378:Tlr1 UTSW 5 65,082,571 (GRCm39) missense not run
R7652:Tlr1 UTSW 5 65,084,130 (GRCm39) nonsense probably null
R7781:Tlr1 UTSW 5 65,084,079 (GRCm39) missense possibly damaging 0.94
R7783:Tlr1 UTSW 5 65,082,264 (GRCm39) missense probably damaging 1.00
R7851:Tlr1 UTSW 5 65,082,307 (GRCm39) missense possibly damaging 0.58
R8546:Tlr1 UTSW 5 65,084,374 (GRCm39) missense probably damaging 0.99
R8696:Tlr1 UTSW 5 65,084,094 (GRCm39) missense probably benign 0.00
R8744:Tlr1 UTSW 5 65,083,873 (GRCm39) missense possibly damaging 0.77
R9086:Tlr1 UTSW 5 65,083,198 (GRCm39) missense probably damaging 1.00
R9160:Tlr1 UTSW 5 65,083,653 (GRCm39) missense probably benign 0.00
R9778:Tlr1 UTSW 5 65,083,371 (GRCm39) missense probably damaging 1.00
X0067:Tlr1 UTSW 5 65,083,918 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCGCTGTACCTTAGAGAATTCTGG -3'
(R):5'- TCAAATGTGAAGCTACAAGGTCAAC -3'

Sequencing Primer
(F):5'- ACCTTAGAGAATTCTGGCTAATGTC -3'
(R):5'- AAGGTCAACTTGCCTTCAGG -3'
Posted On 2022-02-07