Incidental Mutation 'R4398:Tlr12'
ID 325577
Institutional Source Beutler Lab
Gene Symbol Tlr12
Ensembl Gene ENSMUSG00000062545
Gene Name toll-like receptor 12
Synonyms LOC384059, Tlr11
MMRRC Submission 041130-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4398 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 128509239-128512412 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 128509988 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 754 (D754V)
Ref Sequence ENSEMBL: ENSMUSP00000074381 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074829]
AlphaFold Q6QNU9
Predicted Effect probably benign
Transcript: ENSMUST00000074829
AA Change: D754V

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000074381
Gene: ENSMUSG00000062545
AA Change: D754V

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133382
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 96% (53/55)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 C A 15: 94,231,576 (GRCm39) R871L possibly damaging Het
Adcy5 G A 16: 35,089,363 (GRCm39) C520Y probably damaging Het
AI661453 G A 17: 47,779,042 (GRCm39) probably benign Het
Bptf T C 11: 107,001,670 (GRCm39) K481E probably damaging Het
Cnot10 T A 9: 114,460,949 (GRCm39) K74* probably null Het
Ctc1 C T 11: 68,913,697 (GRCm39) P200S probably damaging Het
Dact1 T C 12: 71,363,959 (GRCm39) Y210H probably damaging Het
Dbn1 T C 13: 55,623,194 (GRCm39) T430A probably benign Het
Dmd A C X: 82,765,624 (GRCm39) T657P probably benign Het
Efnb2 C T 8: 8,670,832 (GRCm39) R256H possibly damaging Het
Eif4a1 T C 11: 69,560,070 (GRCm39) I116M possibly damaging Het
F730035P03Rik A T 7: 99,429,475 (GRCm39) noncoding transcript Het
Fbn1 C T 2: 125,239,701 (GRCm39) V329I probably benign Het
Gpr20 G A 15: 73,568,125 (GRCm39) T88I probably benign Het
Herc1 T G 9: 66,386,735 (GRCm39) V3783G probably benign Het
Khdc1a A G 1: 21,420,617 (GRCm39) D79G possibly damaging Het
Klk1b16 A T 7: 43,790,851 (GRCm39) I218F probably damaging Het
Malrd1 C T 2: 16,155,594 (GRCm39) T2001I unknown Het
Mia3 A G 1: 183,111,733 (GRCm39) S556P probably damaging Het
Myo3a T A 2: 22,467,854 (GRCm39) D369E probably benign Het
Nelfa T C 5: 34,058,623 (GRCm39) D279G possibly damaging Het
Ntrk3 A T 7: 77,900,517 (GRCm39) C607* probably null Het
Or13a20 T C 7: 140,232,741 (GRCm39) V283A possibly damaging Het
Pclo A T 5: 14,825,380 (GRCm39) Q1371L probably damaging Het
Pdzd2 A T 15: 12,376,061 (GRCm39) V1358E probably benign Het
Pgr T C 9: 8,903,750 (GRCm39) probably null Het
Prag1 A G 8: 36,570,809 (GRCm39) D464G probably damaging Het
Prickle4 A G 17: 48,001,456 (GRCm39) probably benign Het
Prim2 A G 1: 33,551,192 (GRCm39) Y309H probably damaging Het
Prkaa1 A G 15: 5,206,642 (GRCm39) Q464R possibly damaging Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rint1 T A 5: 23,999,445 (GRCm39) I78K possibly damaging Het
Rnf130 T A 11: 49,962,205 (GRCm39) F217Y probably benign Het
Smad7 T C 18: 75,527,234 (GRCm39) V360A probably damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Stag1 A G 9: 100,838,659 (GRCm39) probably benign Het
Tmf1 G A 6: 97,155,857 (GRCm39) P43L probably damaging Het
Togaram1 A G 12: 65,027,630 (GRCm39) N873S probably benign Het
Tsn C T 1: 118,238,799 (GRCm39) probably benign Het
Ubn1 A G 16: 4,882,289 (GRCm39) K250R probably damaging Het
Vmn1r25 A T 6: 57,955,812 (GRCm39) V159D probably damaging Het
Vmn2r89 T C 14: 51,689,551 (GRCm39) L18P probably damaging Het
Vps8 T G 16: 21,323,216 (GRCm39) N689K probably damaging Het
Ythdc1 T A 5: 86,963,513 (GRCm39) D30E possibly damaging Het
Ythdc1 G T 5: 86,983,679 (GRCm39) probably benign Het
Zfp407 G A 18: 84,580,856 (GRCm39) Q86* probably null Het
Zfp521 C T 18: 13,979,601 (GRCm39) E271K probably benign 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
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
R8422:Tlr12 UTSW 4 128,510,427 (GRCm39) missense probably damaging 1.00
R9098:Tlr12 UTSW 4 128,510,870 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TTATCAACTACATCCTTACCAGGC -3'
(R):5'- ACAATCGCTTATGTCCAGGAC -3'

Sequencing Primer
(F):5'- AGGCTCAAAGTCACGCTCG -3'
(R):5'- TTATGTCCAGGACAAGACAGGCTC -3'
Posted On 2015-07-06