Incidental Mutation 'R6108:Btbd2'
ID 485615
Institutional Source Beutler Lab
Gene Symbol Btbd2
Ensembl Gene ENSMUSG00000003344
Gene Name BTB domain containing 2
Synonyms 4930512K17Rik, 2610037C03Rik
MMRRC Submission 044258-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.331) question?
Stock # R6108 (G1)
Quality Score 163.009
Status Validated
Chromosome 10
Chromosomal Location 80478457-80492328 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 80481365 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 249 (L249Q)
Ref Sequence ENSEMBL: ENSMUSP00000120751 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003434] [ENSMUST00000079773] [ENSMUST00000126980]
AlphaFold E9PUS2
Predicted Effect probably damaging
Transcript: ENSMUST00000003434
AA Change: L264Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003434
Gene: ENSMUSG00000003344
AA Change: L264Q

DomainStartEndE-ValueType
low complexity region 27 68 N/A INTRINSIC
BTB 115 215 9.96e-25 SMART
BACK 220 328 6.36e-13 SMART
Pfam:PHR 373 522 7.1e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000079773
SMART Domains Protein: ENSMUSP00000078706
Gene: ENSMUSG00000003345

DomainStartEndE-ValueType
low complexity region 5 15 N/A INTRINSIC
Pfam:Pkinase 126 329 2e-19 PFAM
Pfam:Pkinase_Tyr 128 329 6.2e-10 PFAM
Pfam:CK1gamma_C 382 412 4e-11 PFAM
low complexity region 425 436 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000126980
AA Change: L249Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120751
Gene: ENSMUSG00000003344
AA Change: L249Q

DomainStartEndE-ValueType
low complexity region 12 53 N/A INTRINSIC
BTB 100 200 9.96e-25 SMART
BACK 205 313 6.36e-13 SMART
Pfam:PHR 358 508 4.3e-54 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000131876
AA Change: L133Q
SMART Domains Protein: ENSMUSP00000120780
Gene: ENSMUSG00000003344
AA Change: L133Q

DomainStartEndE-ValueType
BTB 2 85 4.38e-12 SMART
BACK 90 199 1.21e-13 SMART
PDB:3NO8|B 234 256 1e-8 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147162
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151794
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217902
Meta Mutation Damage Score 0.9569 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.8%
Validation Efficiency 96% (53/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typically involved in protein-protein interactions. Subcellularly, the protein localizes to cytoplasmic bodies. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,539,814 (GRCm39) F5702L probably damaging Het
Aptx G A 4: 40,694,986 (GRCm39) Q117* probably null Het
Axin1 T A 17: 26,362,214 (GRCm39) M186K probably damaging Het
Caprin1 C T 2: 103,606,362 (GRCm39) V293I possibly damaging Het
Ccdc136 C A 6: 29,412,449 (GRCm39) H334Q probably benign Het
Ccdc180 A G 4: 45,911,389 (GRCm39) N568S possibly damaging Het
Cenpf A T 1: 189,394,210 (GRCm39) F515L probably benign Het
Chrm2 T A 6: 36,500,230 (GRCm39) V29E probably damaging Het
Cnot1 A G 8: 96,457,048 (GRCm39) L1956P probably damaging Het
Cyp2d22 T C 15: 82,256,106 (GRCm39) K176R possibly damaging Het
Dnah7a A T 1: 53,496,004 (GRCm39) I3151N probably damaging Het
Dsg1a T A 18: 20,473,304 (GRCm39) D792E probably benign Het
Fam167b A T 4: 129,472,101 (GRCm39) L23* probably null Het
Fermt3 C A 19: 6,991,782 (GRCm39) R143L probably benign Het
Gfm2 A G 13: 97,285,930 (GRCm39) I140V possibly damaging Het
Gna14 A G 19: 16,580,707 (GRCm39) T182A probably damaging Het
Hmcn1 A G 1: 150,506,978 (GRCm39) V3738A possibly damaging Het
Hspa4 C T 11: 53,152,539 (GRCm39) G810D probably damaging Het
Igf2bp3 A G 6: 49,094,308 (GRCm39) I154T probably damaging Het
Il1rap G A 16: 26,541,457 (GRCm39) S566N probably damaging Het
Kcnb1 G A 2: 166,947,060 (GRCm39) T596M probably damaging Het
Kcnn1 A C 8: 71,307,800 (GRCm39) S81A probably benign Het
Lmod1 G A 1: 135,291,849 (GRCm39) G235R probably benign Het
Mei1 A T 15: 81,959,389 (GRCm39) R185S possibly damaging Het
Mmrn1 G A 6: 60,952,960 (GRCm39) V414M possibly damaging Het
Mon2 C A 10: 122,868,600 (GRCm39) M484I probably benign Het
Nae1 A T 8: 105,254,034 (GRCm39) D99E probably benign Het
Nsun7 T A 5: 66,453,142 (GRCm39) I619N probably damaging Het
Nudt12 C A 17: 59,314,744 (GRCm39) R280L probably damaging Het
Or1l4 T C 2: 37,091,778 (GRCm39) V175A possibly damaging Het
P2ry1 T A 3: 60,911,596 (GRCm39) I245N probably damaging Het
Plch1 C T 3: 63,609,444 (GRCm39) R912H probably damaging Het
Plek T A 11: 16,940,058 (GRCm39) Y217F probably damaging Het
Plpp1 A T 13: 113,003,399 (GRCm39) I208F possibly damaging Het
Ptges3-ps C T 6: 85,821,537 (GRCm39) noncoding transcript Het
Ptprf A G 4: 118,080,453 (GRCm39) L1267P probably benign Het
Ptprz1 A T 6: 23,045,658 (GRCm39) S2143C probably damaging Het
Scn9a T C 2: 66,314,393 (GRCm39) D1764G probably damaging Het
Serpinb5 T A 1: 106,809,458 (GRCm39) L288Q probably damaging Het
Slc6a20b T G 9: 123,425,251 (GRCm39) M539L probably benign Het
Slfnl1 A G 4: 120,390,558 (GRCm39) T70A probably benign Het
Smtn C A 11: 3,479,608 (GRCm39) L486F probably damaging Het
Sptbn2 G A 19: 4,781,420 (GRCm39) probably null Het
Tas2r144 C A 6: 42,192,691 (GRCm39) L144I possibly damaging Het
Tjp3 C T 10: 81,116,980 (GRCm39) R183K probably benign Het
Tnip3 A G 6: 65,502,395 (GRCm39) probably null Het
Tspan12 T A 6: 21,772,770 (GRCm39) M212L probably benign Het
Ttn T A 2: 76,708,385 (GRCm39) probably benign Het
Vmn1r71 T C 7: 10,482,545 (GRCm39) M48V probably benign Het
Vmn2r10 A G 5: 109,143,667 (GRCm39) F761S probably damaging Het
Vmn2r106 G A 17: 20,488,638 (GRCm39) P587L probably benign Het
Wdr72 A G 9: 74,058,950 (GRCm39) T348A probably damaging Het
Xrn1 A T 9: 95,856,480 (GRCm39) L333F possibly damaging Het
Other mutations in Btbd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
brachio UTSW 10 80,481,365 (GRCm39) missense probably damaging 1.00
R0245:Btbd2 UTSW 10 80,483,640 (GRCm39) missense probably damaging 1.00
R1794:Btbd2 UTSW 10 80,479,747 (GRCm39) missense probably damaging 1.00
R1960:Btbd2 UTSW 10 80,480,539 (GRCm39) missense probably benign 0.06
R4827:Btbd2 UTSW 10 80,482,223 (GRCm39) missense probably damaging 1.00
R5197:Btbd2 UTSW 10 80,482,253 (GRCm39) missense probably damaging 0.98
R5372:Btbd2 UTSW 10 80,484,475 (GRCm39) missense probably damaging 0.99
R6316:Btbd2 UTSW 10 80,480,612 (GRCm39) missense probably damaging 0.98
R6355:Btbd2 UTSW 10 80,481,183 (GRCm39) missense possibly damaging 0.81
R6872:Btbd2 UTSW 10 80,480,166 (GRCm39) missense probably damaging 0.99
R7016:Btbd2 UTSW 10 80,484,449 (GRCm39) missense probably damaging 1.00
R7300:Btbd2 UTSW 10 80,480,100 (GRCm39) missense probably damaging 1.00
R7524:Btbd2 UTSW 10 80,482,278 (GRCm39) missense probably damaging 0.97
R7617:Btbd2 UTSW 10 80,482,226 (GRCm39) missense probably damaging 1.00
R7756:Btbd2 UTSW 10 80,484,440 (GRCm39) missense probably benign 0.05
R7762:Btbd2 UTSW 10 80,479,390 (GRCm39) missense probably damaging 1.00
R8696:Btbd2 UTSW 10 80,480,515 (GRCm39) missense possibly damaging 0.83
R9321:Btbd2 UTSW 10 80,483,675 (GRCm39) missense probably damaging 0.99
R9484:Btbd2 UTSW 10 80,480,103 (GRCm39) missense probably benign 0.01
R9655:Btbd2 UTSW 10 80,492,045 (GRCm39) missense probably benign 0.40
R9784:Btbd2 UTSW 10 80,484,481 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AACTCCTCGATGGTCATCAGG -3'
(R):5'- ACATTGTTCCTGGGTCAGAACC -3'

Sequencing Primer
(F):5'- CTCGATGGTCATCAGGGGGAATC -3'
(R):5'- AGTGATTTCCAGGCCAGTCTGAAC -3'
Posted On 2017-08-16