Incidental Mutation 'R1160:Tbl2'
ID 100311
Institutional Source Beutler Lab
Gene Symbol Tbl2
Ensembl Gene ENSMUSG00000005374
Gene Name transducin (beta)-like 2
Synonyms C76179, WS-bTRP
MMRRC Submission 039233-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.164) question?
Stock # R1160 (G1)
Quality Score 214
Status Not validated
Chromosome 5
Chromosomal Location 135178288-135192727 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 135188246 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 347 (T347A)
Ref Sequence ENSEMBL: ENSMUSP00000115011 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005508] [ENSMUST00000139565] [ENSMUST00000152013] [ENSMUST00000153183] [ENSMUST00000201780]
AlphaFold Q9R099
Predicted Effect probably benign
Transcript: ENSMUST00000005508
SMART Domains Protein: ENSMUSP00000005508
Gene: ENSMUSG00000005374

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
low complexity region 50 59 N/A INTRINSIC
WD40 75 114 1.89e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000139565
SMART Domains Protein: ENSMUSP00000120685
Gene: ENSMUSG00000005374

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000152013
SMART Domains Protein: ENSMUSP00000118691
Gene: ENSMUSG00000005374

DomainStartEndE-ValueType
low complexity region 15 24 N/A INTRINSIC
WD40 40 79 1.89e-9 SMART
Blast:WD40 87 126 3e-15 BLAST
WD40 138 177 1.67e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000153183
AA Change: T347A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000115011
Gene: ENSMUSG00000005374
AA Change: T347A

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
low complexity region 50 59 N/A INTRINSIC
WD40 75 114 1.89e-9 SMART
Blast:WD40 122 161 5e-14 BLAST
WD40 173 212 1.67e-1 SMART
WD40 214 253 2.38e1 SMART
WD40 264 303 6.04e-8 SMART
Blast:WD40 313 353 4e-16 BLAST
WD40 358 395 1.28e0 SMART
coiled coil region 411 442 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000201780
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.3%
  • 10x: 92.7%
  • 20x: 81.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the beta-transducin protein family. Most proteins of the beta-transducin family are involved in regulatory functions. This protein is possibly involved in some intracellular signaling pathway. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap1 G T 1: 89,770,876 (GRCm39) K622N probably damaging Het
Ap3b2 A T 7: 81,115,917 (GRCm39) probably null Het
Arl5b T C 2: 15,074,648 (GRCm39) V43A probably benign Het
Astn1 T C 1: 158,427,935 (GRCm39) V702A possibly damaging Het
Bach1 T C 16: 87,512,322 (GRCm39) V15A probably benign Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Ccar2 C T 14: 70,377,218 (GRCm39) V774M probably benign Het
Dcaf5 T C 12: 80,386,989 (GRCm39) D379G possibly damaging Het
Dcpp1 T A 17: 24,100,405 (GRCm39) I45K possibly damaging Het
Ddx17 T A 15: 79,425,288 (GRCm39) S128C probably damaging Het
Eml3 A G 19: 8,910,614 (GRCm39) N192S probably benign Het
Epha3 T G 16: 63,593,431 (GRCm39) D219A probably damaging Het
Fhod3 C T 18: 25,118,293 (GRCm39) A210V probably damaging Het
Khdc4 C A 3: 88,616,169 (GRCm39) P452Q probably damaging Het
Klhl5 A G 5: 65,298,683 (GRCm39) N154S probably benign Het
Lrif1 A G 3: 106,640,033 (GRCm39) N373D possibly damaging Het
Map3k20 A G 2: 72,271,864 (GRCm39) N664S probably benign Het
Or52z15 A G 7: 103,332,068 (GRCm39) N38D possibly damaging Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Pdia3 G A 2: 121,262,858 (GRCm39) G275S probably damaging Het
Pglyrp4 T A 3: 90,636,138 (GRCm39) probably null Het
Pole A G 5: 110,443,119 (GRCm39) E349G possibly damaging Het
Ptprj A G 2: 90,274,868 (GRCm39) Y1165H probably damaging Het
Rasd1 T A 11: 59,855,547 (GRCm39) I29F possibly damaging Het
Scamp3 T C 3: 89,088,505 (GRCm39) F237S probably damaging Het
Sccpdh T G 1: 179,511,775 (GRCm39) D82E probably benign Het
Slc19a3 A C 1: 83,000,413 (GRCm39) H201Q possibly damaging Het
Slc5a4a G A 10: 76,013,995 (GRCm39) A401T possibly damaging Het
Snupn T G 9: 56,864,389 (GRCm39) C29W probably benign Het
Sorbs2 A G 8: 46,223,613 (GRCm39) Y222C probably damaging Het
Sox17 A T 1: 4,562,075 (GRCm39) V310E probably damaging Het
Srgap1 T A 10: 121,691,382 (GRCm39) Y284F probably benign Het
Srpk1 C A 17: 28,818,748 (GRCm39) V363F probably benign Het
Syt13 T A 2: 92,773,387 (GRCm39) probably null Het
Taf2 A G 15: 54,934,793 (GRCm39) V45A probably benign Het
Tal1 A T 4: 114,925,813 (GRCm39) D294V probably damaging Het
Tet3 A G 6: 83,381,434 (GRCm39) S110P probably benign Het
Tmem132a A G 19: 10,835,938 (GRCm39) V864A probably damaging Het
Trak1 T C 9: 121,221,073 (GRCm39) I80T probably benign Het
Trappc6b G A 12: 59,097,064 (GRCm39) T86I probably damaging Het
Usf3 T A 16: 44,038,910 (GRCm39) I1130N probably damaging Het
Xirp2 T C 2: 67,340,231 (GRCm39) V824A possibly damaging Het
Zfp810 T C 9: 22,189,828 (GRCm39) Y360C possibly damaging Het
Zmiz1 T A 14: 25,654,936 (GRCm39) V685E probably damaging Het
Zp2 A T 7: 119,735,268 (GRCm39) D368E probably damaging Het
Other mutations in Tbl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01390:Tbl2 APN 5 135,185,217 (GRCm39) unclassified probably benign
IGL02669:Tbl2 APN 5 135,181,852 (GRCm39) missense probably damaging 1.00
R1909:Tbl2 UTSW 5 135,181,845 (GRCm39) missense probably damaging 1.00
R1945:Tbl2 UTSW 5 135,186,454 (GRCm39) missense possibly damaging 0.56
R2156:Tbl2 UTSW 5 135,185,374 (GRCm39) critical splice donor site probably null
R2342:Tbl2 UTSW 5 135,187,607 (GRCm39) missense possibly damaging 0.81
R2392:Tbl2 UTSW 5 135,185,368 (GRCm39) missense probably benign 0.10
R3813:Tbl2 UTSW 5 135,185,375 (GRCm39) critical splice donor site probably null
R5560:Tbl2 UTSW 5 135,186,445 (GRCm39) nonsense probably null
R6301:Tbl2 UTSW 5 135,188,223 (GRCm39) missense probably benign
R6723:Tbl2 UTSW 5 135,188,130 (GRCm39) missense probably damaging 1.00
R6816:Tbl2 UTSW 5 135,188,069 (GRCm39) splice site probably null
R7136:Tbl2 UTSW 5 135,178,682 (GRCm39) missense probably benign 0.23
R7288:Tbl2 UTSW 5 135,183,253 (GRCm39) missense possibly damaging 0.92
R7720:Tbl2 UTSW 5 135,188,329 (GRCm39) missense probably damaging 1.00
R9488:Tbl2 UTSW 5 135,187,471 (GRCm39) missense probably benign 0.09
X0024:Tbl2 UTSW 5 135,188,445 (GRCm39) missense possibly damaging 0.49
Predicted Primers
Posted On 2014-01-15