Incidental Mutation 'R7213:Tll2'
ID 561258
Institutional Source Beutler Lab
Gene Symbol Tll2
Ensembl Gene ENSMUSG00000025013
Gene Name tolloid-like 2
Synonyms
MMRRC Submission 045341-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.787) question?
Stock # R7213 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 41071192-41195274 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 41108666 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 328 (R328L)
Ref Sequence ENSEMBL: ENSMUSP00000025986 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025986] [ENSMUST00000169941]
AlphaFold Q9WVM6
Predicted Effect probably damaging
Transcript: ENSMUST00000025986
AA Change: R328L

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000025986
Gene: ENSMUSG00000025013
AA Change: R328L

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
ZnMc 152 294 1.15e-54 SMART
CUB 348 460 7.69e-44 SMART
CUB 461 573 8.69e-52 SMART
EGF_CA 573 614 1.26e-11 SMART
CUB 617 729 3.99e-51 SMART
EGF_CA 729 769 5.92e-8 SMART
CUB 773 885 3.08e-43 SMART
CUB 886 1002 2.25e-36 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169941
SMART Domains Protein: ENSMUSP00000125973
Gene: ENSMUSG00000025013

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
ZnMc 152 294 1.15e-54 SMART
CUB 331 443 7.69e-44 SMART
CUB 444 556 8.69e-52 SMART
EGF_CA 556 597 1.26e-11 SMART
CUB 600 712 3.99e-51 SMART
EGF_CA 712 752 5.92e-8 SMART
CUB 756 868 3.08e-43 SMART
CUB 869 985 2.25e-36 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (80/81)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an astacin-like zinc-dependent metalloprotease and is a subfamily member of the metzincin family. Unlike other family members, a similar protein in mice does not cleave procollagen C-propeptides or chordin. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in increased muscle weight. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik G T 9: 124,056,530 (GRCm39) Y131* probably null Het
2310009B15Rik A T 1: 138,781,367 (GRCm39) V94D probably damaging Het
Actr1b T A 1: 36,741,221 (GRCm39) N120I probably damaging Het
Adam17 A T 12: 21,386,679 (GRCm39) Y452* probably null Het
Adam19 A T 11: 46,012,298 (GRCm39) T265S probably benign Het
Adgrb1 A G 15: 74,441,733 (GRCm39) T945A probably benign Het
Bpifa5 G A 2: 154,007,903 (GRCm39) V182M possibly damaging Het
Celsr3 C T 9: 108,726,239 (GRCm39) T3156I probably damaging Het
Cntrl A G 2: 35,025,692 (GRCm39) M674V possibly damaging Het
Cry2 C T 2: 92,244,004 (GRCm39) V390I probably benign Het
Cspg4b T A 13: 113,454,475 (GRCm39) F174I Het
Cwc25 G T 11: 97,644,855 (GRCm39) Q168K probably benign Het
Dcbld2 C T 16: 58,271,126 (GRCm39) A301V probably benign Het
Dclre1a T C 19: 56,518,067 (GRCm39) Y1004C probably damaging Het
Ddhd1 A C 14: 45,895,210 (GRCm39) S87A probably benign Het
Ear1 A G 14: 44,056,611 (GRCm39) C86R probably damaging Het
Epha5 T C 5: 84,381,782 (GRCm39) probably null Het
Fat2 A T 11: 55,171,871 (GRCm39) Y2947* probably null Het
Fat4 G A 3: 39,053,236 (GRCm39) V4077M possibly damaging Het
Fbxl12 A T 9: 20,550,304 (GRCm39) V140E probably damaging Het
Fbxo16 A G 14: 65,536,868 (GRCm39) probably null Het
Fto A T 8: 92,118,135 (GRCm39) Q29L probably benign Het
Gk5 C T 9: 96,027,765 (GRCm39) T200M probably damaging Het
Gm5916 C T 9: 36,039,946 (GRCm39) G14E possibly damaging Het
Gm9972 A T 11: 42,927,235 (GRCm39) probably benign Het
Gpr139 T A 7: 118,744,322 (GRCm39) M88L probably benign Het
Gpr26 T C 7: 131,569,219 (GRCm39) L188P probably damaging Het
H2ac4 G T 13: 23,935,146 (GRCm39) A11S unknown Het
Hbp1 A T 12: 31,987,196 (GRCm39) S219T probably benign Het
Hr A T 14: 70,795,790 (GRCm39) E445V probably damaging Het
Il12rb1 A G 8: 71,269,097 (GRCm39) K426E probably benign Het
Itgbl1 G A 14: 124,210,709 (GRCm39) C469Y probably damaging Het
Kdm2b A T 5: 123,059,532 (GRCm39) N523K probably damaging Het
Kptn A G 7: 15,854,704 (GRCm39) N125S possibly damaging Het
Krt17 T C 11: 100,149,356 (GRCm39) N238S probably benign Het
Lemd3 G A 10: 120,814,145 (GRCm39) R363* probably null Het
Mmrn1 G A 6: 60,921,527 (GRCm39) probably benign Het
Mtus1 T C 8: 41,537,524 (GRCm39) D64G probably damaging Het
Muc16 A G 9: 18,552,712 (GRCm39) V4527A probably benign Het
Naip2 T A 13: 100,323,991 (GRCm39) D193V probably damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nf1 A G 11: 79,360,645 (GRCm39) H1462R probably benign Het
Or2n1b T C 17: 38,459,965 (GRCm39) V162A probably benign Het
Or5ak20 A T 2: 85,183,900 (GRCm39) Y123* probably null Het
Pappa2 T A 1: 158,764,456 (GRCm39) T352S possibly damaging Het
Pcnt A G 10: 76,244,738 (GRCm39) L1114P probably damaging Het
Pde6b T C 5: 108,551,956 (GRCm39) Y212H probably damaging Het
Pik3c2g A T 6: 139,805,990 (GRCm39) I604F Het
Pld2 A G 11: 70,444,198 (GRCm39) D498G probably benign Het
Prag1 A T 8: 36,613,769 (GRCm39) Q1107L probably damaging Het
Pwp1 A T 10: 85,712,173 (GRCm39) I110F probably benign Het
Rims4 C T 2: 163,705,981 (GRCm39) V218I probably benign Het
Rnf10 C T 5: 115,380,532 (GRCm39) S754N probably damaging Het
Rnf10 T C 5: 115,380,533 (GRCm39) S754G probably damaging Het
Sel1l2 A T 2: 140,086,055 (GRCm39) V512E probably damaging Het
Shank2 T A 7: 143,585,146 (GRCm39) M49K probably benign Het
Sipa1 T C 19: 5,710,551 (GRCm39) D153G probably damaging Het
Slc46a2 C T 4: 59,914,279 (GRCm39) V215I possibly damaging Het
Slco6c1 G A 1: 97,055,671 (GRCm39) L77F probably benign Het
Smarca2 T C 19: 26,624,531 (GRCm39) L397P possibly damaging Het
Spg7 C T 8: 123,816,971 (GRCm39) A554V probably damaging Het
Stab1 T A 14: 30,865,630 (GRCm39) M1753L probably benign Het
Stk11 A G 10: 79,952,452 (GRCm39) M1V probably null Het
Supt6 C A 11: 78,122,976 (GRCm39) G136C probably damaging Het
Svil G T 18: 5,094,574 (GRCm39) R1418L probably damaging Het
Tfg A G 16: 56,521,516 (GRCm39) S167P probably benign Het
Timeless T C 10: 128,079,158 (GRCm39) V335A probably benign Het
Tomm7 T C 5: 24,049,059 (GRCm39) S5G possibly damaging Het
Ttc39c G A 18: 12,820,138 (GRCm39) probably null Het
Ttn T C 2: 76,556,105 (GRCm39) E30300G probably benign Het
Tuba4a A T 1: 75,192,341 (GRCm39) D452E possibly damaging Het
Tubgcp2 T C 7: 139,587,927 (GRCm39) I233V probably benign Het
Tubgcp5 T A 7: 55,455,860 (GRCm39) V296E probably damaging Het
Vmn2r53 T C 7: 12,334,983 (GRCm39) S226G probably benign Het
Xrcc6 T C 15: 81,901,027 (GRCm39) probably benign Het
Zfhx4 C A 3: 5,461,704 (GRCm39) D1192E probably benign Het
Zfp180 G T 7: 23,803,938 (GRCm39) W119L possibly damaging Het
Zfp3 A G 11: 70,663,351 (GRCm39) I437V probably benign Het
Zfp616 A T 11: 73,976,689 (GRCm39) Q986L probably benign Het
Zfp937 T A 2: 150,081,385 (GRCm39) C472S probably damaging Het
Other mutations in Tll2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01555:Tll2 APN 19 41,074,805 (GRCm39) missense probably benign 0.01
IGL02028:Tll2 APN 19 41,087,088 (GRCm39) nonsense probably null
IGL02146:Tll2 APN 19 41,086,276 (GRCm39) missense probably benign 0.00
IGL02192:Tll2 APN 19 41,074,702 (GRCm39) missense possibly damaging 0.73
IGL02544:Tll2 APN 19 41,124,404 (GRCm39) missense probably damaging 1.00
PIT4677001:Tll2 UTSW 19 41,118,997 (GRCm39) missense probably benign 0.14
R0141:Tll2 UTSW 19 41,086,351 (GRCm39) missense probably damaging 1.00
R0372:Tll2 UTSW 19 41,171,752 (GRCm39) critical splice acceptor site probably null
R0393:Tll2 UTSW 19 41,077,265 (GRCm39) missense possibly damaging 0.95
R0402:Tll2 UTSW 19 41,087,132 (GRCm39) missense possibly damaging 0.56
R0613:Tll2 UTSW 19 41,093,429 (GRCm39) missense probably damaging 0.97
R0756:Tll2 UTSW 19 41,108,667 (GRCm39) missense probably damaging 1.00
R0757:Tll2 UTSW 19 41,108,667 (GRCm39) missense probably damaging 1.00
R0790:Tll2 UTSW 19 41,092,289 (GRCm39) missense probably damaging 0.98
R0834:Tll2 UTSW 19 41,101,512 (GRCm39) missense probably damaging 1.00
R0843:Tll2 UTSW 19 41,116,902 (GRCm39) splice site probably null
R1014:Tll2 UTSW 19 41,092,290 (GRCm39) missense probably damaging 1.00
R1178:Tll2 UTSW 19 41,081,286 (GRCm39) missense probably damaging 1.00
R1233:Tll2 UTSW 19 41,084,423 (GRCm39) missense possibly damaging 0.79
R1364:Tll2 UTSW 19 41,108,667 (GRCm39) missense probably damaging 1.00
R1367:Tll2 UTSW 19 41,108,667 (GRCm39) missense probably damaging 1.00
R1368:Tll2 UTSW 19 41,108,667 (GRCm39) missense probably damaging 1.00
R1519:Tll2 UTSW 19 41,074,839 (GRCm39) missense probably benign 0.17
R1894:Tll2 UTSW 19 41,077,110 (GRCm39) critical splice donor site probably null
R1896:Tll2 UTSW 19 41,101,498 (GRCm39) missense probably benign 0.44
R1917:Tll2 UTSW 19 41,116,936 (GRCm39) missense possibly damaging 0.83
R2170:Tll2 UTSW 19 41,171,714 (GRCm39) missense probably damaging 1.00
R4433:Tll2 UTSW 19 41,109,787 (GRCm39) missense probably benign 0.03
R4617:Tll2 UTSW 19 41,087,075 (GRCm39) missense probably benign 0.31
R4831:Tll2 UTSW 19 41,118,951 (GRCm39) missense probably damaging 1.00
R5057:Tll2 UTSW 19 41,105,705 (GRCm39) missense probably benign 0.02
R5119:Tll2 UTSW 19 41,118,948 (GRCm39) missense possibly damaging 0.48
R5194:Tll2 UTSW 19 41,084,336 (GRCm39) missense probably damaging 1.00
R5280:Tll2 UTSW 19 41,105,696 (GRCm39) missense possibly damaging 0.87
R5602:Tll2 UTSW 19 41,093,420 (GRCm39) missense possibly damaging 0.63
R5800:Tll2 UTSW 19 41,093,373 (GRCm39) missense probably benign 0.10
R6223:Tll2 UTSW 19 41,124,391 (GRCm39) missense possibly damaging 0.54
R7047:Tll2 UTSW 19 41,074,679 (GRCm39) missense probably damaging 0.99
R7155:Tll2 UTSW 19 41,105,723 (GRCm39) missense possibly damaging 0.72
R7231:Tll2 UTSW 19 41,074,673 (GRCm39) missense probably benign 0.02
R7390:Tll2 UTSW 19 41,108,608 (GRCm39) critical splice donor site probably null
R7414:Tll2 UTSW 19 41,092,268 (GRCm39) missense probably damaging 0.98
R7757:Tll2 UTSW 19 41,084,447 (GRCm39) missense probably damaging 1.00
R8165:Tll2 UTSW 19 41,077,313 (GRCm39) missense possibly damaging 0.79
R8418:Tll2 UTSW 19 41,081,276 (GRCm39) missense probably damaging 1.00
R8788:Tll2 UTSW 19 41,109,814 (GRCm39) missense probably benign 0.00
R8811:Tll2 UTSW 19 41,195,012 (GRCm39) missense probably benign
R9227:Tll2 UTSW 19 41,093,436 (GRCm39) missense probably benign 0.34
R9230:Tll2 UTSW 19 41,093,436 (GRCm39) missense probably benign 0.34
R9280:Tll2 UTSW 19 41,077,309 (GRCm39) missense possibly damaging 0.83
R9282:Tll2 UTSW 19 41,074,772 (GRCm39) missense probably benign
R9382:Tll2 UTSW 19 41,116,997 (GRCm39) missense probably benign 0.04
R9715:Tll2 UTSW 19 41,092,238 (GRCm39) missense probably damaging 0.99
R9760:Tll2 UTSW 19 41,119,084 (GRCm39) missense probably damaging 1.00
R9801:Tll2 UTSW 19 41,194,993 (GRCm39) missense probably benign
X0027:Tll2 UTSW 19 41,171,742 (GRCm39) missense probably damaging 1.00
Z1177:Tll2 UTSW 19 41,081,173 (GRCm39) missense probably benign 0.14
Predicted Primers PCR Primer
(F):5'- CTGCATGCTTCCTAACAAAGAC -3'
(R):5'- AGGAATGCTGATGGGTTACC -3'

Sequencing Primer
(F):5'- ACCACAGCTGCCAAGGAGTG -3'
(R):5'- TTACCAGGAAAGAAACGAAGATTTG -3'
Posted On 2019-06-26