Incidental Mutation 'R4559:Tlr12'
ID 342978
Institutional Source Beutler Lab
Gene Symbol Tlr12
Ensembl Gene ENSMUSG00000062545
Gene Name toll-like receptor 12
Synonyms LOC384059, Tlr11
MMRRC Submission 041785-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4559 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 128509239-128512412 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 128509563 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 896 (G896W)
Ref Sequence ENSEMBL: ENSMUSP00000074381 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074829]
AlphaFold Q6QNU9
Predicted Effect probably damaging
Transcript: ENSMUST00000074829
AA Change: G896W

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000074381
Gene: ENSMUSG00000062545
AA Change: G896W

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (56/56)
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
1700017G19Rik A G 3: 40,567,240 (GRCm39) noncoding transcript Het
1700066M21Rik T C 1: 57,422,083 (GRCm39) F153S possibly damaging Het
Acss1 A G 2: 150,480,405 (GRCm39) V222A probably benign Het
Atad2b A G 12: 4,993,223 (GRCm39) I247M probably benign Het
Atxn10 A G 15: 85,322,321 (GRCm39) I398V possibly damaging Het
Cep192 T A 18: 68,004,584 (GRCm39) C2312S probably damaging Het
Cidea C T 18: 67,493,298 (GRCm39) Q106* probably null Het
Cnga4 A G 7: 105,054,892 (GRCm39) T159A probably damaging Het
Cyp2j12 G T 4: 96,001,194 (GRCm39) S304R probably damaging Het
Dennd2b A G 7: 109,124,785 (GRCm39) F665L probably damaging Het
Dsg4 T A 18: 20,603,978 (GRCm39) V815E probably damaging Het
Entrep1 G A 19: 24,007,913 (GRCm39) S130L probably damaging Het
Farp1 T C 14: 121,510,213 (GRCm39) M737T probably damaging Het
Fbn1 T A 2: 125,193,634 (GRCm39) D1395V possibly damaging Het
Fbn2 C T 18: 58,209,146 (GRCm39) M1076I probably benign Het
Fitm2 T A 2: 163,314,593 (GRCm39) probably benign Het
Fras1 A G 5: 96,929,148 (GRCm39) R3851G probably damaging Het
Frem2 C T 3: 53,561,742 (GRCm39) V922I probably benign Het
Gm10719 A T 9: 3,018,945 (GRCm39) T200S probably benign Het
Grin3a T C 4: 49,844,555 (GRCm39) D176G probably damaging Het
Hdac5 T C 11: 102,089,928 (GRCm39) probably benign Het
Ift140 C A 17: 25,309,741 (GRCm39) H1090Q probably damaging Het
Il20ra A G 10: 19,625,032 (GRCm39) T104A probably damaging Het
Il22ra2 A G 10: 19,502,460 (GRCm39) D93G possibly damaging Het
Ing1 A G 8: 11,612,090 (GRCm39) K176R probably benign Het
Jph1 A T 1: 17,074,735 (GRCm39) C428S probably benign Het
Kif13b G T 14: 65,043,581 (GRCm39) G1794W probably damaging Het
Map10 A G 8: 126,398,553 (GRCm39) T649A probably benign Het
Med12l T C 3: 58,914,523 (GRCm39) probably null Het
Nat8f1 A G 6: 85,887,567 (GRCm39) I131T probably benign Het
Oas1d C A 5: 121,054,958 (GRCm39) Q177K probably benign Het
Or4a74 C A 2: 89,440,043 (GRCm39) M134I probably damaging Het
Or51q1 G A 7: 103,628,767 (GRCm39) D123N probably damaging Het
P2ry2 A G 7: 100,647,363 (GRCm39) V314A possibly damaging Het
Pabir2 G A X: 52,349,554 (GRCm39) probably benign Het
Pfkl G T 10: 77,824,717 (GRCm39) R691S probably benign Het
Plb1 T A 5: 32,490,175 (GRCm39) I1005N probably damaging Het
Prkacb A G 3: 146,451,147 (GRCm39) probably benign Het
Ptprm A T 17: 66,990,403 (GRCm39) Y1412N possibly damaging Het
Rab22a A G 2: 173,503,226 (GRCm39) D13G probably damaging Het
Rab29 G A 1: 131,800,305 (GRCm39) W201* probably null Het
Rasa3 T C 8: 13,648,259 (GRCm39) E135G probably damaging Het
Rassf10 A G 7: 112,554,338 (GRCm39) E313G probably benign Het
Sf1 GGCAGCAGCAGCAGCAGCAGC GGCAGCAGCAGCAGCAGC 19: 6,424,845 (GRCm39) probably benign Het
Sipa1l3 A T 7: 29,031,678 (GRCm39) L468Q probably damaging Het
Slc17a1 A T 13: 24,062,695 (GRCm39) K254* probably null Het
Slc6a12 G A 6: 121,340,820 (GRCm39) probably null Het
Slfn8 A G 11: 82,895,570 (GRCm39) L412P probably damaging Het
Taf4b T C 18: 14,946,583 (GRCm39) S469P probably damaging Het
Tgoln1 T C 6: 72,592,664 (GRCm39) E272G probably damaging Het
Tnfrsf1a A G 6: 125,337,729 (GRCm39) I229V probably benign Het
Ttn G A 2: 76,749,890 (GRCm39) H3720Y 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
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
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'- AGCCTCTTAGACCCACTGTC -3'
(R):5'- ATAGCATGTTGAGCAGCCG -3'

Sequencing Primer
(F):5'- TTAGACCCACTGTCCCCGAC -3'
(R):5'- ATGTTGAGCAGCCGTACCAC -3'
Posted On 2015-09-24