Incidental Mutation 'R5602:Tll2'
ID 439113
Institutional Source Beutler Lab
Gene Symbol Tll2
Ensembl Gene ENSMUSG00000025013
Gene Name tolloid-like 2
Synonyms
MMRRC Submission 043154-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.787) question?
Stock # R5602 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 41071192-41195274 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 41093420 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 465 (R465S)
Ref Sequence ENSEMBL: ENSMUSP00000125973 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025986] [ENSMUST00000169941]
AlphaFold Q9WVM6
Predicted Effect probably benign
Transcript: ENSMUST00000025986
AA Change: R482S

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000025986
Gene: ENSMUSG00000025013
AA Change: R482S

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 possibly damaging
Transcript: ENSMUST00000169941
AA Change: R465S

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000125973
Gene: ENSMUSG00000025013
AA Change: R465S

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik G A 2: 151,315,459 (GRCm39) S73F possibly damaging Het
4932414N04Rik A T 2: 68,578,712 (GRCm39) *753L probably null Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Adam19 T C 11: 46,027,142 (GRCm39) S592P probably benign Het
Adamtsl3 A G 7: 82,206,447 (GRCm39) K843R possibly damaging Het
Ap2a2 A T 7: 141,184,855 (GRCm39) T213S probably benign Het
Asb5 A G 8: 55,038,974 (GRCm39) E280G probably benign Het
Becn1 T C 11: 101,179,778 (GRCm39) D403G probably damaging Het
Ccr7 G T 11: 99,036,315 (GRCm39) N202K probably benign Het
Cd36 T C 5: 18,019,790 (GRCm39) T104A possibly damaging Het
Cnot4 C T 6: 35,028,464 (GRCm39) W384* probably null Het
Col15a1 G A 4: 47,312,087 (GRCm39) V1301M probably damaging Het
Dock2 C A 11: 34,204,391 (GRCm39) A1384S probably benign Het
Ehbp1l1 T C 19: 5,758,698 (GRCm39) E1648G possibly damaging Het
Fbn1 G T 2: 125,163,661 (GRCm39) A2065E possibly damaging Het
Fras1 A G 5: 96,884,880 (GRCm39) Y2586C probably damaging Het
Galm T A 17: 80,457,568 (GRCm39) Y28* probably null Het
Ggt7 A G 2: 155,332,919 (GRCm39) V648A possibly damaging Het
Gm17067 T A 7: 42,357,839 (GRCm39) D221V probably damaging Het
Gpr3 T C 4: 132,937,805 (GRCm39) N289S probably damaging Het
Ighv11-2 A G 12: 114,012,277 (GRCm39) probably benign Het
Ighv11-2 G A 12: 114,012,099 (GRCm39) L39F probably damaging Het
Ipo9 G A 1: 135,329,983 (GRCm39) L486F probably damaging Het
Jak2 T A 19: 29,275,739 (GRCm39) N726K probably benign Het
Map4 T C 9: 109,881,768 (GRCm39) S211P possibly damaging Het
Mlh1 A T 9: 111,081,946 (GRCm39) L259Q probably damaging Het
Naa25 A G 5: 121,558,558 (GRCm39) E300G probably benign Het
Or8g34 A T 9: 39,373,326 (GRCm39) M200L probably benign Het
Or8g54 T A 9: 39,707,490 (GRCm39) V273E possibly damaging Het
Parva G A 7: 112,166,972 (GRCm39) V182I probably benign Het
Pcdhgb4 T C 18: 37,854,697 (GRCm39) I364T probably damaging Het
Pdik1l A G 4: 134,011,580 (GRCm39) S164P probably damaging Het
Pfas A T 11: 68,881,871 (GRCm39) I938N probably benign Het
Plscr1l1 G A 9: 92,234,721 (GRCm39) C152Y possibly damaging Het
Prdm4 TCTCCTCCT TCTCCT 10: 85,728,987 (GRCm39) probably null Het
Prob1 C T 18: 35,787,079 (GRCm39) V392M possibly damaging Het
Rasgrf1 T C 9: 89,793,624 (GRCm39) S134P possibly damaging Het
Rorb T A 19: 18,955,301 (GRCm39) Y20F probably damaging Het
Rsph9 G T 17: 46,445,909 (GRCm39) D220E probably damaging Het
Safb2 C A 17: 56,882,630 (GRCm39) K334N possibly damaging Het
Sall3 T C 18: 81,016,027 (GRCm39) T634A probably benign Het
Scaf1 A G 7: 44,657,007 (GRCm39) probably benign Het
Slco1a5 T A 6: 142,221,255 (GRCm39) probably benign Het
Spata21 C T 4: 140,824,210 (GRCm39) R158C probably benign Het
Srrm2 G A 17: 24,038,311 (GRCm39) probably benign Het
Stk38l C A 6: 146,659,998 (GRCm39) T10N probably benign Het
Supv3l1 G A 10: 62,266,371 (GRCm39) P602S possibly damaging Het
Timm44 C T 8: 4,316,769 (GRCm39) probably null Het
Tmem104 G A 11: 115,095,950 (GRCm39) A164T probably damaging Het
Tmem151b A G 17: 45,856,526 (GRCm39) S305P probably damaging Het
Utrn T C 10: 12,625,839 (GRCm39) D114G probably damaging Het
Vmn2r109 A T 17: 20,760,933 (GRCm39) M808K possibly damaging Het
Washc2 T A 6: 116,225,056 (GRCm39) D801E possibly damaging Het
Xkr4 T C 1: 3,286,751 (GRCm39) I480V probably benign Het
Zfp507 G T 7: 35,475,663 (GRCm39) S58* probably null Het
Zfp768 T A 7: 126,943,804 (GRCm39) D108V possibly 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
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
R7213:Tll2 UTSW 19 41,108,666 (GRCm39) missense probably damaging 0.97
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'- CCAATCTGGCCTAAAACTCACTTTC -3'
(R):5'- CGTAGCTACACGGTTATCCAG -3'

Sequencing Primer
(F):5'- GGCCTAAAACTCACTTTCCTCCTG -3'
(R):5'- TCAAGGCCCGGGTTGTTAAAC -3'
Posted On 2016-10-26