Incidental Mutation 'R8422:Tlr12'
ID 653246
Institutional Source Beutler Lab
Gene Symbol Tlr12
Ensembl Gene ENSMUSG00000062545
Gene Name toll-like receptor 12
Synonyms LOC384059, Tlr11
MMRRC Submission 067817-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8422 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 128509239-128512412 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 128510427 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 608 (S608P)
Ref Sequence ENSEMBL: ENSMUSP00000074381 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074829]
AlphaFold Q6QNU9
Predicted Effect probably damaging
Transcript: ENSMUST00000074829
AA Change: S608P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074381
Gene: ENSMUSG00000062545
AA Change: S608P

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 253 266 N/A INTRINSIC
LRR 291 314 1.67e2 SMART
LRR 315 338 9.24e1 SMART
LRR_TYP 341 364 2.79e-4 SMART
LRR 365 388 4.34e-1 SMART
LRR 389 412 1.37e1 SMART
LRR 413 436 1.71e2 SMART
low complexity region 443 459 N/A INTRINSIC
low complexity region 494 502 N/A INTRINSIC
LRR 591 614 5.56e0 SMART
Pfam:TIR 760 905 5.5e-13 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null mutation exhibit a greatly increased susceptibility to kidney infection by uropathogenic bacteria. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik G T 14: 32,384,254 (GRCm39) S570R possibly damaging Het
4921517D22Rik T C 13: 59,839,443 (GRCm39) M1V probably null Het
4921524J17Rik T G 8: 86,138,918 (GRCm39) K57T possibly damaging Het
4930596D02Rik G T 14: 35,532,009 (GRCm39) Q189K probably benign Het
Anapc1 T C 2: 128,517,757 (GRCm39) T296A probably benign Het
Aqp7 T A 4: 41,035,622 (GRCm39) M78L probably benign Het
C1qtnf5 C A 9: 44,019,961 (GRCm39) A195E possibly damaging Het
Calhm2 T C 19: 47,121,579 (GRCm39) I197V probably benign Het
Ccdc186 G A 19: 56,801,617 (GRCm39) L167F probably benign Het
Ccr3 T C 9: 123,828,799 (GRCm39) Y45H probably damaging Het
Cct3 G C 3: 88,208,126 (GRCm39) R38P probably damaging Het
Clstn2 T C 9: 97,340,239 (GRCm39) D711G probably benign Het
Dab2ip T A 2: 35,597,767 (GRCm39) I157N probably damaging Het
Dchs2 T C 3: 83,232,570 (GRCm39) V2185A probably benign Het
Dis3l2 A G 1: 86,782,099 (GRCm39) T219A probably benign Het
F2rl3 G T 8: 73,489,813 (GRCm39) V347L probably benign Het
Fastkd1 A G 2: 69,532,778 (GRCm39) S530P probably damaging Het
Fgfr3 T A 5: 33,892,249 (GRCm39) Y689* probably null Het
Gm10521 A G 1: 171,724,026 (GRCm39) I112M unknown Het
Gm9736 C A 10: 77,586,714 (GRCm39) V159F unknown Het
Hba-x A T 11: 32,227,736 (GRCm39) H88L probably benign Het
Il12rb2 A T 6: 67,337,800 (GRCm39) V27E probably benign Het
Imp4 G T 1: 34,482,997 (GRCm39) G196V probably damaging Het
Itga11 A C 9: 62,674,960 (GRCm39) I831L probably benign Het
Macf1 C T 4: 123,303,279 (GRCm39) V408I possibly damaging Het
Nedd4 T A 9: 72,649,964 (GRCm39) D771E probably damaging Het
Noc3l T C 19: 38,795,547 (GRCm39) Y413C probably benign Het
Npas3 C A 12: 54,115,292 (GRCm39) T738K probably benign Het
Ntrk2 A T 13: 59,133,715 (GRCm39) D498V probably damaging Het
Nyap1 T C 5: 137,734,083 (GRCm39) T317A probably benign Het
Or10g7 T C 9: 39,905,850 (GRCm39) L248P probably damaging Het
Or14a256 T A 7: 86,265,466 (GRCm39) H129L probably benign Het
Or4c107 T C 2: 88,789,341 (GRCm39) M177T probably benign Het
Or5d47 T A 2: 87,804,143 (GRCm39) I289L probably benign Het
Pcdhb20 A T 18: 37,637,849 (GRCm39) D125V probably damaging Het
Phc3 G A 3: 30,984,039 (GRCm39) Q692* probably null Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Ppp1r12a T A 10: 108,077,042 (GRCm39) H339Q probably benign Het
Ppp1r3a G A 6: 14,718,434 (GRCm39) Q827* probably null Het
Ptpra T A 2: 130,374,091 (GRCm39) I265N possibly damaging Het
Rabggta G T 14: 55,955,915 (GRCm39) H447Q probably benign Het
Ralgps1 T C 2: 33,062,442 (GRCm39) D277G possibly damaging Het
Riok3 A T 18: 12,269,869 (GRCm39) E100V probably null Het
Rtcb C T 10: 85,779,168 (GRCm39) V362M probably benign Het
Scd2 G T 19: 44,289,743 (GRCm39) C246F probably benign Het
Slco6c1 T C 1: 97,053,508 (GRCm39) E131G probably damaging Het
Tanc2 A G 11: 105,726,014 (GRCm39) M393V probably benign Het
Tas2r136 A T 6: 132,754,290 (GRCm39) I279N probably damaging Het
Tbx3 G T 5: 119,818,581 (GRCm39) K405N possibly damaging Het
Thumpd2 A T 17: 81,334,373 (GRCm39) V405D probably damaging Het
Wfs1 T C 5: 37,131,219 (GRCm39) K165E probably benign Het
Zfp810 C A 9: 22,194,518 (GRCm39) E57* probably null Het
Other mutations in Tlr12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00568:Tlr12 APN 4 128,511,215 (GRCm39) missense probably benign 0.00
IGL00654:Tlr12 APN 4 128,511,233 (GRCm39) missense probably benign 0.27
IGL01290:Tlr12 APN 4 128,511,630 (GRCm39) missense probably damaging 1.00
IGL01406:Tlr12 APN 4 128,510,132 (GRCm39) nonsense probably null
IGL01550:Tlr12 APN 4 128,509,535 (GRCm39) missense probably damaging 1.00
IGL02590:Tlr12 APN 4 128,511,182 (GRCm39) missense probably benign 0.00
IGL02592:Tlr12 APN 4 128,511,479 (GRCm39) missense probably benign 0.02
IGL02635:Tlr12 APN 4 128,510,609 (GRCm39) missense probably damaging 0.98
IGL02714:Tlr12 APN 4 128,511,506 (GRCm39) missense probably damaging 1.00
IGL03104:Tlr12 APN 4 128,509,685 (GRCm39) missense probably benign 0.01
IGL03131:Tlr12 APN 4 128,509,670 (GRCm39) missense probably damaging 1.00
IGL03329:Tlr12 APN 4 128,510,645 (GRCm39) missense possibly damaging 0.84
IGL03354:Tlr12 APN 4 128,509,730 (GRCm39) missense probably damaging 1.00
R0848:Tlr12 UTSW 4 128,510,084 (GRCm39) missense probably benign 0.05
R1536:Tlr12 UTSW 4 128,511,545 (GRCm39) missense possibly damaging 0.95
R1807:Tlr12 UTSW 4 128,511,229 (GRCm39) missense probably benign 0.21
R1989:Tlr12 UTSW 4 128,510,862 (GRCm39) missense probably benign 0.04
R2905:Tlr12 UTSW 4 128,509,802 (GRCm39) missense probably damaging 1.00
R3870:Tlr12 UTSW 4 128,510,361 (GRCm39) missense probably benign 0.00
R4026:Tlr12 UTSW 4 128,510,301 (GRCm39) missense probably benign 0.00
R4296:Tlr12 UTSW 4 128,511,581 (GRCm39) missense probably damaging 1.00
R4398:Tlr12 UTSW 4 128,509,988 (GRCm39) missense probably benign 0.09
R4528:Tlr12 UTSW 4 128,511,818 (GRCm39) missense probably damaging 1.00
R4559:Tlr12 UTSW 4 128,509,563 (GRCm39) missense probably damaging 1.00
R4599:Tlr12 UTSW 4 128,511,125 (GRCm39) missense probably benign 0.06
R4999:Tlr12 UTSW 4 128,511,473 (GRCm39) missense probably benign 0.38
R5054:Tlr12 UTSW 4 128,511,063 (GRCm39) nonsense probably null
R5177:Tlr12 UTSW 4 128,512,169 (GRCm39) missense probably damaging 0.96
R5207:Tlr12 UTSW 4 128,510,502 (GRCm39) nonsense probably null
R5533:Tlr12 UTSW 4 128,509,656 (GRCm39) missense probably damaging 0.99
R6484:Tlr12 UTSW 4 128,509,847 (GRCm39) missense probably damaging 1.00
R6568:Tlr12 UTSW 4 128,511,785 (GRCm39) missense probably benign 0.10
R6821:Tlr12 UTSW 4 128,510,685 (GRCm39) missense possibly damaging 0.95
R7465:Tlr12 UTSW 4 128,509,963 (GRCm39) missense probably damaging 1.00
R7594:Tlr12 UTSW 4 128,511,473 (GRCm39) missense probably benign 0.38
R7810:Tlr12 UTSW 4 128,510,501 (GRCm39) missense probably benign 0.00
R7957:Tlr12 UTSW 4 128,510,483 (GRCm39) missense probably benign 0.33
R8258:Tlr12 UTSW 4 128,511,492 (GRCm39) missense probably benign 0.38
R8259:Tlr12 UTSW 4 128,511,492 (GRCm39) missense probably benign 0.38
R8377:Tlr12 UTSW 4 128,509,566 (GRCm39) missense probably benign
R9098:Tlr12 UTSW 4 128,510,870 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GTTTTAGTGGACCGCTTAACC -3'
(R):5'- TCCCCAAACTTCAGTCCTTGAG -3'

Sequencing Primer
(F):5'- TTAGTGGACCGCTTAACCCATGG -3'
(R):5'- CCAAACTTCAGTCCTTGAGGGTATG -3'
Posted On 2020-10-20