Incidental Mutation 'R2054:Abtb2'
ID 226491
Institutional Source Beutler Lab
Gene Symbol Abtb2
Ensembl Gene ENSMUSG00000032724
Gene Name ankyrin repeat and BTB domain containing 2
Synonyms BPOZ-2
MMRRC Submission 040059-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2054 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 103396655-103548768 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103535462 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 543 (D543G)
Ref Sequence ENSEMBL: ENSMUSP00000075566 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076212]
AlphaFold Q7TQI7
Predicted Effect probably benign
Transcript: ENSMUST00000076212
AA Change: D543G

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000075566
Gene: ENSMUSG00000032724
AA Change: D543G

DomainStartEndE-ValueType
low complexity region 29 48 N/A INTRINSIC
low complexity region 122 143 N/A INTRINSIC
Blast:H2A 186 301 2e-38 BLAST
low complexity region 366 376 N/A INTRINSIC
ANK 521 550 4.78e-7 SMART
ANK 567 596 6.26e-2 SMART
ANK 606 635 3.65e-3 SMART
ANK 649 678 5.52e2 SMART
ANK 715 746 1.84e3 SMART
BTB 844 946 9.15e-24 SMART
Meta Mutation Damage Score 0.1088 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 99% (67/68)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300003K06Rik A T 11: 99,728,562 (GRCm39) C94S possibly damaging Het
A930011G23Rik T C 5: 99,375,914 (GRCm39) Y432C probably benign Het
Adam9 A T 8: 25,481,310 (GRCm39) V318E probably damaging Het
Aim2 T C 1: 173,291,548 (GRCm39) F318L probably damaging Het
Apob A T 12: 8,063,134 (GRCm39) D3872V probably damaging Het
Atat1 T A 17: 36,212,261 (GRCm39) R323W probably null Het
Atp2b4 T C 1: 133,642,907 (GRCm39) D1066G probably benign Het
Bltp1 A G 3: 37,002,002 (GRCm39) T1316A probably benign Het
Caskin2 T C 11: 115,697,127 (GRCm39) probably benign Het
Cblif G A 19: 11,736,370 (GRCm39) V314I probably benign Het
Ccdc54 T A 16: 50,410,987 (GRCm39) N93I probably damaging Het
Ccnd1 A C 7: 144,491,128 (GRCm39) D159E possibly damaging Het
Cnot1 A C 8: 96,466,469 (GRCm39) S1589R possibly damaging Het
Copa T A 1: 171,946,524 (GRCm39) Y980* probably null Het
Defb19 A G 2: 152,418,090 (GRCm39) I82T possibly damaging Het
Elapor2 C A 5: 9,513,030 (GRCm39) T1008K possibly damaging Het
Fiz1 G A 7: 5,011,235 (GRCm39) R428C probably damaging Het
Fnip2 A T 3: 79,479,772 (GRCm39) probably benign Het
Gabrb3 G A 7: 57,474,241 (GRCm39) G408S probably benign Het
Hao1 C T 2: 134,340,178 (GRCm39) silent Het
Hecw1 T A 13: 14,471,998 (GRCm39) M557L probably damaging Het
Itch A T 2: 155,052,496 (GRCm39) I699F probably damaging Het
Kmt2a T C 9: 44,734,671 (GRCm39) probably benign Het
Leng8 T G 7: 4,147,289 (GRCm39) Y562* probably null Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Lrp1b A T 2: 40,587,494 (GRCm39) N151K unknown Het
Lrrc71 T C 3: 87,649,980 (GRCm39) E316G probably damaging Het
Mgat5 A G 1: 127,325,344 (GRCm39) N404D probably damaging Het
Mrps26 C A 2: 130,406,087 (GRCm39) T100K probably benign Het
Mtor A G 4: 148,547,309 (GRCm39) T431A probably benign Het
Mtor T A 4: 148,550,482 (GRCm39) C713S probably benign Het
Mug2 A G 6: 122,054,451 (GRCm39) K1077E probably damaging Het
Nbas A G 12: 13,524,207 (GRCm39) T1688A probably benign Het
Nek2 T C 1: 191,553,764 (GRCm39) S3P possibly damaging Het
Nell2 T C 15: 95,332,990 (GRCm39) T190A probably benign Het
Npr2 A T 4: 43,646,560 (GRCm39) N636I probably damaging Het
Orc3 A T 4: 34,584,846 (GRCm39) I453K probably damaging Het
Pcnx1 A G 12: 81,980,448 (GRCm39) H865R probably benign Het
Pex1 T C 5: 3,653,341 (GRCm39) V80A possibly damaging Het
Phka2 T A X: 159,337,323 (GRCm39) D424E probably damaging Het
Pkd1 C T 17: 24,793,770 (GRCm39) T1819I probably benign Het
Poglut1 T C 16: 38,355,169 (GRCm39) D219G probably damaging Het
Ppargc1a T C 5: 51,631,130 (GRCm39) I500V possibly damaging Het
Pwwp4a G T X: 72,171,261 (GRCm39) G218C probably damaging Het
Pygm C G 19: 6,438,185 (GRCm39) N163K probably benign Het
Qrich1 T A 9: 108,436,469 (GRCm39) N722K possibly damaging Het
Reep6 T A 10: 80,166,156 (GRCm39) C104* probably null Het
Rfx8 A G 1: 39,724,719 (GRCm39) V214A possibly damaging Het
Sis G A 3: 72,820,570 (GRCm39) T1398I probably benign Het
Skint5 A G 4: 113,676,360 (GRCm39) probably null Het
Slc7a14 A G 3: 31,291,511 (GRCm39) probably benign Het
Smc2 T A 4: 52,462,948 (GRCm39) M646K probably benign Het
Snx29 A G 16: 11,449,356 (GRCm39) N165S probably damaging Het
Supt6 T A 11: 78,115,187 (GRCm39) probably benign Het
Tead4 G T 6: 128,247,925 (GRCm39) S37R probably damaging Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tex56 T A 13: 35,108,574 (GRCm39) Y19N probably damaging Het
Tff2 T C 17: 31,362,199 (GRCm39) K40E probably benign Het
Traip C T 9: 107,840,118 (GRCm39) T265M probably benign Het
Trim47 T C 11: 115,999,109 (GRCm39) T256A probably benign Het
Trpm1 A G 7: 63,890,303 (GRCm39) M853V possibly damaging Het
Tti1 G T 2: 157,849,365 (GRCm39) Q625K possibly damaging Het
Ube2n A G 10: 95,377,128 (GRCm39) N31S probably damaging Het
Vmn2r17 T C 5: 109,600,352 (GRCm39) M550T probably damaging Het
Zfp512 T A 5: 31,622,793 (GRCm39) N31K probably benign Het
Zfp64 A G 2: 168,767,728 (GRCm39) V628A probably damaging Het
Other mutations in Abtb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01161:Abtb2 APN 2 103,535,463 (GRCm39) missense probably benign 0.00
IGL02605:Abtb2 APN 2 103,547,602 (GRCm39) missense probably benign
IGL03161:Abtb2 APN 2 103,397,799 (GRCm39) missense probably benign 0.02
PIT4504001:Abtb2 UTSW 2 103,547,537 (GRCm39) nonsense probably null
R0147:Abtb2 UTSW 2 103,397,480 (GRCm39) missense probably benign 0.04
R1052:Abtb2 UTSW 2 103,535,417 (GRCm39) missense possibly damaging 0.46
R1419:Abtb2 UTSW 2 103,539,765 (GRCm39) missense probably benign 0.00
R1518:Abtb2 UTSW 2 103,539,629 (GRCm39) missense probably benign 0.03
R1650:Abtb2 UTSW 2 103,532,747 (GRCm39) missense probably damaging 1.00
R1795:Abtb2 UTSW 2 103,397,369 (GRCm39) missense probably benign 0.00
R2101:Abtb2 UTSW 2 103,397,207 (GRCm39) missense probably benign 0.05
R2363:Abtb2 UTSW 2 103,397,528 (GRCm39) missense probably damaging 1.00
R3440:Abtb2 UTSW 2 103,397,577 (GRCm39) missense probably benign 0.43
R3927:Abtb2 UTSW 2 103,538,563 (GRCm39) splice site probably null
R4351:Abtb2 UTSW 2 103,513,738 (GRCm39) missense possibly damaging 0.46
R4352:Abtb2 UTSW 2 103,513,738 (GRCm39) missense possibly damaging 0.46
R4782:Abtb2 UTSW 2 103,547,644 (GRCm39) missense probably benign 0.35
R4814:Abtb2 UTSW 2 103,547,632 (GRCm39) missense probably benign 0.08
R4831:Abtb2 UTSW 2 103,513,820 (GRCm39) missense probably benign 0.06
R4900:Abtb2 UTSW 2 103,397,349 (GRCm39) missense possibly damaging 0.62
R5038:Abtb2 UTSW 2 103,397,408 (GRCm39) missense probably damaging 0.99
R5513:Abtb2 UTSW 2 103,539,623 (GRCm39) critical splice acceptor site probably null
R6119:Abtb2 UTSW 2 103,532,655 (GRCm39) missense probably benign 0.00
R6298:Abtb2 UTSW 2 103,539,833 (GRCm39) missense probably benign 0.10
R6383:Abtb2 UTSW 2 103,397,721 (GRCm39) missense probably damaging 0.98
R6860:Abtb2 UTSW 2 103,539,770 (GRCm39) nonsense probably null
R7000:Abtb2 UTSW 2 103,542,787 (GRCm39) missense possibly damaging 0.85
R7109:Abtb2 UTSW 2 103,545,860 (GRCm39) missense probably benign 0.20
R7176:Abtb2 UTSW 2 103,539,720 (GRCm39) missense probably benign 0.00
R7189:Abtb2 UTSW 2 103,397,861 (GRCm39) missense probably benign 0.00
R7199:Abtb2 UTSW 2 103,397,565 (GRCm39) missense possibly damaging 0.74
R7299:Abtb2 UTSW 2 103,532,769 (GRCm39) splice site probably null
R7347:Abtb2 UTSW 2 103,397,757 (GRCm39) missense probably damaging 1.00
R7469:Abtb2 UTSW 2 103,397,292 (GRCm39) missense probably benign 0.00
R7629:Abtb2 UTSW 2 103,513,838 (GRCm39) critical splice donor site probably null
R7862:Abtb2 UTSW 2 103,532,626 (GRCm39) missense probably damaging 1.00
R8200:Abtb2 UTSW 2 103,531,162 (GRCm39) missense probably benign 0.02
R8682:Abtb2 UTSW 2 103,397,720 (GRCm39) missense probably benign 0.36
R8700:Abtb2 UTSW 2 103,397,289 (GRCm39) missense probably damaging 0.99
R9164:Abtb2 UTSW 2 103,541,829 (GRCm39) missense possibly damaging 0.50
R9196:Abtb2 UTSW 2 103,513,647 (GRCm39) missense possibly damaging 0.71
R9254:Abtb2 UTSW 2 103,541,580 (GRCm39) missense probably benign 0.00
R9258:Abtb2 UTSW 2 103,546,410 (GRCm39) missense probably null 0.99
R9343:Abtb2 UTSW 2 103,547,505 (GRCm39) missense probably benign
R9427:Abtb2 UTSW 2 103,531,244 (GRCm39) missense probably damaging 1.00
R9675:Abtb2 UTSW 2 103,538,532 (GRCm39) missense probably benign
Z1176:Abtb2 UTSW 2 103,538,517 (GRCm39) nonsense probably null
Z1177:Abtb2 UTSW 2 103,541,541 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CACCCCTATGCTGATGACTCTG -3'
(R):5'- CCAAATTCAGAGGAAAGTGGTC -3'

Sequencing Primer
(F):5'- ATGCTGATGACTCTGATTAGCC -3'
(R):5'- GAAAGTGGTCTTTGCTCTGAC -3'
Posted On 2014-09-17