Incidental Mutation 'R5560:Tbl2'
ID 436515
Institutional Source Beutler Lab
Gene Symbol Tbl2
Ensembl Gene ENSMUSG00000005374
Gene Name transducin (beta)-like 2
Synonyms C76179, WS-bTRP
MMRRC Submission 043117-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # R5560 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 135149657-135165760 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 135157591 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 216 (Q216*)
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

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

transmembrane domain 10 32 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000152013
AA Change: Q181*
SMART Domains Protein: ENSMUSP00000118691
Gene: ENSMUSG00000005374
AA Change: Q181*

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 null
Transcript: ENSMUST00000153183
AA Change: Q216*
SMART Domains Protein: ENSMUSP00000115011
Gene: ENSMUSG00000005374
AA Change: Q216*

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: 99.9%
  • 3x: 99.6%
  • 10x: 97.7%
  • 20x: 92.8%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acyp2 C T 11: 30,506,354 (GRCm38) E98K possibly damaging Het
Adipor1 T C 1: 134,426,040 (GRCm38) W188R possibly damaging Het
Agrn T C 4: 156,178,497 (GRCm38) D441G probably damaging Het
Ankrd55 T C 13: 112,383,490 (GRCm38) S570P probably benign Het
Ano9 C G 7: 141,110,482 (GRCm38) G80R probably damaging Het
Arhgef2 T A 3: 88,634,437 (GRCm38) V250E probably damaging Het
Atp2b2 T C 6: 113,774,358 (GRCm38) D583G possibly damaging Het
Bcar3 T A 3: 122,426,575 (GRCm38) D40E possibly damaging Het
Capn12 A G 7: 28,882,860 (GRCm38) D133G probably benign Het
Ccna1 A T 3: 55,048,569 (GRCm38) Y269N probably damaging Het
Cct6b A T 11: 82,741,413 (GRCm38) Y250N probably damaging Het
Cep112 A C 11: 108,437,235 (GRCm38) K98Q probably damaging Het
Chst13 T C 6: 90,318,269 (GRCm38) D54G probably damaging Het
Clstn2 G T 9: 97,469,819 (GRCm38) H518N possibly damaging Het
Cntnap1 T A 11: 101,182,435 (GRCm38) L581M probably damaging Het
Cog3 T A 14: 75,729,393 (GRCm38) M446L probably damaging Het
D430042O09Rik T C 7: 125,854,561 (GRCm38) V1150A probably benign Het
Dennd2c T A 3: 103,161,555 (GRCm38) I756K probably damaging Het
Dennd3 T G 15: 73,532,895 (GRCm38) L273R probably damaging Het
Dhx34 C A 7: 16,218,541 (GRCm38) R53L probably benign Het
Dnah9 G A 11: 65,881,740 (GRCm38) T3722I probably benign Het
Dnajb12 GC G 10: 59,892,752 (GRCm38) probably null Het
Dusp6 A G 10: 99,266,241 (GRCm38) Y217C probably damaging Het
Dyrk1b G A 7: 28,184,253 (GRCm38) R178Q possibly damaging Het
Eif4g1 T A 16: 20,686,895 (GRCm38) C1009S probably benign Het
Fam198a T C 9: 121,978,223 (GRCm38) F478L possibly damaging Het
Frmpd1 A T 4: 45,243,697 (GRCm38) T57S probably damaging Het
Gjc2 A G 11: 59,177,359 (GRCm38) V99A possibly damaging Het
Gm9955 A T 18: 24,709,092 (GRCm38) probably benign Het
Gpr158 A G 2: 21,826,290 (GRCm38) I734V possibly damaging Het
Herc1 A T 9: 66,451,119 (GRCm38) H2494L probably benign Het
Hist1h1c A G 13: 23,739,407 (GRCm38) S187G probably benign Het
Hjurp GT GTT 1: 88,266,524 (GRCm38) probably null Het
Hmgcs1 A G 13: 119,699,815 (GRCm38) probably null Het
Invs A T 4: 48,416,084 (GRCm38) T655S probably benign Het
Ipo9 G A 1: 135,402,245 (GRCm38) L486F probably damaging Het
Kcnj6 A T 16: 94,832,965 (GRCm38) L96M probably benign Het
Lfng A G 5: 140,614,267 (GRCm38) D354G possibly damaging Het
Lgsn T C 1: 31,196,872 (GRCm38) L139P probably damaging Het
Madd C A 2: 91,163,545 (GRCm38) V923L probably damaging Het
Mfsd7a A T 5: 108,448,863 (GRCm38) M1K probably null Het
Mical1 A T 10: 41,478,965 (GRCm38) I157F probably damaging Het
Mis18bp1 T C 12: 65,152,816 (GRCm38) N154S possibly damaging Het
Mrps14 A G 1: 160,195,535 (GRCm38) K6R probably benign Het
Mug1 T A 6: 121,861,073 (GRCm38) C421S probably damaging Het
Myo18b A G 5: 112,868,295 (GRCm38) I696T probably damaging Het
Naf1 T C 8: 66,883,545 (GRCm38) Y375H probably damaging Het
Nsf T A 11: 103,863,255 (GRCm38) E485V possibly damaging Het
Nup188 A G 2: 30,309,885 (GRCm38) D307G probably damaging Het
Ocel1 C A 8: 71,372,478 (GRCm38) P108T probably damaging Het
Oip5 A G 2: 119,613,059 (GRCm38) S177P probably damaging Het
Olfr1436 G A 19: 12,298,644 (GRCm38) Q163* probably null Het
Olfr365 A G 2: 37,201,930 (GRCm38) I230V probably benign Het
Olfr51 A C 11: 51,007,523 (GRCm38) I184L possibly damaging Het
Olfr943 A C 9: 39,184,184 (GRCm38) E2A probably benign Het
Omg A G 11: 79,501,758 (GRCm38) W425R possibly damaging Het
Pikfyve A G 1: 65,253,407 (GRCm38) Y1339C probably damaging Het
Polr3e A G 7: 120,922,949 (GRCm38) D6G possibly damaging Het
Pou4f3 C A 18: 42,395,415 (GRCm38) P141Q probably benign Het
Rcsd1 T A 1: 165,655,501 (GRCm38) N337I possibly damaging Het
Rhoj C T 12: 75,391,712 (GRCm38) P91S probably damaging Het
Rnf10 A G 5: 115,249,998 (GRCm38) F367S probably damaging Het
Rnft1 A T 11: 86,493,196 (GRCm38) R307S probably benign Het
Ryr3 A T 2: 112,754,877 (GRCm38) F2788Y probably damaging Het
Scgb1c1 A G 7: 140,846,224 (GRCm38) K78E possibly damaging Het
Scn5a G T 9: 119,560,286 (GRCm38) A123E probably damaging Het
Setd2 T A 9: 110,549,839 (GRCm38) Y623* probably null Het
Thegl A G 5: 77,016,486 (GRCm38) D112G possibly damaging Het
Tnc A G 4: 64,008,709 (GRCm38) I860T probably damaging Het
Trafd1 T C 5: 121,373,303 (GRCm38) K484R possibly damaging Het
Trank1 T C 9: 111,390,567 (GRCm38) V2124A probably damaging Het
Trpm4 A T 7: 45,310,332 (GRCm38) W713R probably damaging Het
Uap1l1 T C 2: 25,362,676 (GRCm38) T451A probably benign Het
Uba6 A T 5: 86,131,260 (GRCm38) C668S probably damaging Het
Ubxn11 T C 4: 134,126,624 (GRCm38) F441S probably damaging Het
Vmn1r22 C T 6: 57,900,738 (GRCm38) V85M probably damaging Het
Vmn2r72 T A 7: 85,751,942 (GRCm38) I90L probably damaging Het
Wdr60 T C 12: 116,218,113 (GRCm38) S769G probably damaging Het
Zfp330 T C 8: 82,764,956 (GRCm38) E196G probably benign Het
Zfp746 A G 6: 48,082,174 (GRCm38) V167A possibly damaging Het
Zfp994 T C 17: 22,201,713 (GRCm38) E85G possibly damaging Het
Other mutations in Tbl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01390:Tbl2 APN 5 135,156,363 (GRCm38) unclassified probably benign
IGL02669:Tbl2 APN 5 135,152,998 (GRCm38) missense probably damaging 1.00
R1160:Tbl2 UTSW 5 135,159,392 (GRCm38) missense probably benign 0.01
R1909:Tbl2 UTSW 5 135,152,991 (GRCm38) missense probably damaging 1.00
R1945:Tbl2 UTSW 5 135,157,600 (GRCm38) missense possibly damaging 0.56
R2156:Tbl2 UTSW 5 135,156,520 (GRCm38) critical splice donor site probably null
R2342:Tbl2 UTSW 5 135,158,753 (GRCm38) missense possibly damaging 0.81
R2392:Tbl2 UTSW 5 135,156,514 (GRCm38) missense probably benign 0.10
R3813:Tbl2 UTSW 5 135,156,521 (GRCm38) critical splice donor site probably null
R6301:Tbl2 UTSW 5 135,159,369 (GRCm38) missense probably benign
R6723:Tbl2 UTSW 5 135,159,276 (GRCm38) missense probably damaging 1.00
R6816:Tbl2 UTSW 5 135,159,215 (GRCm38) splice site probably null
R7136:Tbl2 UTSW 5 135,149,828 (GRCm38) missense probably benign 0.23
R7288:Tbl2 UTSW 5 135,154,399 (GRCm38) missense possibly damaging 0.92
R7720:Tbl2 UTSW 5 135,159,475 (GRCm38) missense probably damaging 1.00
R9488:Tbl2 UTSW 5 135,158,617 (GRCm38) missense probably benign 0.09
X0024:Tbl2 UTSW 5 135,159,591 (GRCm38) missense possibly damaging 0.49
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-10-24