Incidental Mutation 'R4009:Kat2b'
ID 311623
Institutional Source Beutler Lab
Gene Symbol Kat2b
Ensembl Gene ENSMUSG00000000708
Gene Name K(lysine) acetyltransferase 2B
Synonyms A930006P13Rik, Pcaf
MMRRC Submission 040846-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4009 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 53873889-53979748 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to A at 53951769 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000126232 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000724] [ENSMUST00000166525]
AlphaFold Q9JHD1
Predicted Effect probably null
Transcript: ENSMUST00000000724
SMART Domains Protein: ENSMUSP00000000724
Gene: ENSMUSG00000000708

DomainStartEndE-ValueType
low complexity region 4 21 N/A INTRINSIC
low complexity region 32 55 N/A INTRINSIC
Pfam:PCAF_N 56 308 6.2e-114 PFAM
low complexity region 461 472 N/A INTRINSIC
Pfam:Acetyltransf_7 522 605 1.5e-11 PFAM
Pfam:Acetyltransf_1 530 604 3.2e-11 PFAM
low complexity region 643 659 N/A INTRINSIC
BROMO 702 810 1.08e-44 SMART
Predicted Effect probably null
Transcript: ENSMUST00000166525
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CBP and p300 are large nuclear proteins that bind to many sequence-specific factors involved in cell growth and/or differentiation, including c-jun and the adenoviral oncoprotein E1A. The protein encoded by this gene associates with p300/CBP. It has in vitro and in vivo binding activity with CBP and p300, and competes with E1A for binding sites in p300/CBP. It has histone acetyl transferase activity with core histones and nucleosome core particles, indicating that this protein plays a direct role in transcriptional regulation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit no abrnomal phenotype. [provided by MGI curators]
Allele List at MGI

All alleles(122) : Targeted, knock-out(2) Targeted, other(1) Gene trapped(119)

Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A T 11: 109,980,933 (GRCm39) L35Q probably damaging Het
Acss2 T A 2: 155,399,548 (GRCm39) L529Q probably damaging Het
Apc2 T A 10: 80,149,426 (GRCm39) D1464E probably benign Het
Atp8a2 A G 14: 60,265,434 (GRCm39) S301P possibly damaging Het
Cntln A G 4: 84,981,452 (GRCm39) T877A probably benign Het
Cntn6 T C 6: 104,810,783 (GRCm39) I537T probably damaging Het
Cyp2d12 T G 15: 82,440,493 (GRCm39) L94R probably damaging Het
Dnah7a A G 1: 53,564,164 (GRCm39) L1965P probably damaging Het
Dock10 T C 1: 80,510,148 (GRCm39) N1560S probably damaging Het
F830045P16Rik A T 2: 129,305,467 (GRCm39) N302K probably damaging Het
Fxr1 G T 3: 34,119,171 (GRCm39) R580L probably benign Het
Gm5592 G T 7: 40,938,934 (GRCm39) V739L probably benign Het
Gna13 A G 11: 109,286,843 (GRCm39) D222G probably damaging Het
Grm7 T A 6: 111,472,683 (GRCm39) Y841N probably damaging Het
Kcng4 A G 8: 120,352,824 (GRCm39) V362A probably damaging Het
Kcnh1 T A 1: 191,959,448 (GRCm39) I334N probably benign Het
Mapkbp1 T C 2: 119,854,086 (GRCm39) S1222P probably benign Het
Or10a3m A T 7: 108,313,366 (GRCm39) I269L probably benign Het
Or10ag57 A T 2: 87,218,924 (GRCm39) I292F possibly damaging Het
Or11g26 T C 14: 50,753,419 (GRCm39) S253P possibly damaging Het
Or5h24 G A 16: 58,919,124 (GRCm39) T77I unknown Het
Pik3cb A G 9: 98,922,982 (GRCm39) Y1017H probably damaging Het
Plpp5 A G 8: 26,210,338 (GRCm39) E36G probably damaging Het
Pnma8a A T 7: 16,695,301 (GRCm39) K385N probably damaging Het
Ptprd T G 4: 75,874,634 (GRCm39) M1272L possibly damaging Het
Rad51ap2 A G 12: 11,507,052 (GRCm39) I325V probably benign Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Skint4 T C 4: 111,977,306 (GRCm39) V232A possibly damaging Het
Slc30a5 G A 13: 100,945,741 (GRCm39) A537V probably damaging Het
Tcerg1 CAATTGAAAA CAA 18: 42,697,201 (GRCm39) probably null Het
Tenm3 C A 8: 48,802,258 (GRCm39) K162N probably damaging Het
Vmn2r44 T A 7: 8,380,987 (GRCm39) Q302L possibly damaging Het
Zfp618 G A 4: 63,051,801 (GRCm39) A861T probably benign Het
Other mutations in Kat2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00473:Kat2b APN 17 53,970,651 (GRCm39) missense possibly damaging 0.46
IGL00793:Kat2b APN 17 53,972,852 (GRCm39) missense probably benign 0.00
IGL01628:Kat2b APN 17 53,917,925 (GRCm39) missense possibly damaging 0.89
IGL02494:Kat2b APN 17 53,960,233 (GRCm39) missense probably damaging 1.00
IGL03347:Kat2b APN 17 53,931,379 (GRCm39) critical splice acceptor site probably null
cakewalk UTSW 17 53,945,550 (GRCm39) missense probably damaging 1.00
fracking UTSW 17 53,931,450 (GRCm39) missense probably damaging 1.00
D605:Kat2b UTSW 17 53,936,358 (GRCm39) missense probably damaging 1.00
R0060:Kat2b UTSW 17 53,961,571 (GRCm39) missense probably damaging 1.00
R0225:Kat2b UTSW 17 53,948,238 (GRCm39) missense probably damaging 1.00
R0372:Kat2b UTSW 17 53,945,565 (GRCm39) missense possibly damaging 0.95
R0638:Kat2b UTSW 17 53,951,771 (GRCm39) splice site probably benign
R0639:Kat2b UTSW 17 53,874,566 (GRCm39) missense probably benign 0.38
R0780:Kat2b UTSW 17 53,874,476 (GRCm39) missense unknown
R1240:Kat2b UTSW 17 53,931,425 (GRCm39) missense probably benign 0.00
R2346:Kat2b UTSW 17 53,917,932 (GRCm39) missense probably benign 0.07
R3402:Kat2b UTSW 17 53,972,881 (GRCm39) missense probably damaging 1.00
R3776:Kat2b UTSW 17 53,874,609 (GRCm39) splice site probably null
R4011:Kat2b UTSW 17 53,951,769 (GRCm39) splice site probably null
R4543:Kat2b UTSW 17 53,960,168 (GRCm39) missense probably benign
R4598:Kat2b UTSW 17 53,977,826 (GRCm39) missense probably benign 0.02
R4785:Kat2b UTSW 17 53,960,231 (GRCm39) missense possibly damaging 0.81
R5079:Kat2b UTSW 17 53,970,666 (GRCm39) missense probably damaging 1.00
R5475:Kat2b UTSW 17 53,970,609 (GRCm39) missense probably damaging 1.00
R6993:Kat2b UTSW 17 53,945,550 (GRCm39) missense probably damaging 1.00
R7047:Kat2b UTSW 17 53,970,597 (GRCm39) missense probably benign 0.01
R7058:Kat2b UTSW 17 53,972,894 (GRCm39) missense probably benign 0.00
R7199:Kat2b UTSW 17 53,977,706 (GRCm39) missense probably damaging 1.00
R7276:Kat2b UTSW 17 53,931,450 (GRCm39) missense probably damaging 1.00
R7418:Kat2b UTSW 17 53,917,953 (GRCm39) missense possibly damaging 0.94
R7535:Kat2b UTSW 17 53,931,431 (GRCm39) missense probably damaging 1.00
R7561:Kat2b UTSW 17 53,948,286 (GRCm39) missense probably benign 0.22
R7723:Kat2b UTSW 17 53,945,415 (GRCm39) missense possibly damaging 0.62
R7976:Kat2b UTSW 17 53,955,835 (GRCm39) missense probably benign 0.00
R8250:Kat2b UTSW 17 53,970,564 (GRCm39) missense probably damaging 1.00
R8277:Kat2b UTSW 17 53,948,281 (GRCm39) missense probably benign 0.01
R8969:Kat2b UTSW 17 53,967,116 (GRCm39) nonsense probably null
R9136:Kat2b UTSW 17 53,936,364 (GRCm39) missense probably benign 0.00
R9281:Kat2b UTSW 17 53,931,425 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGGCAGTCATAGGATGGCTTTATG -3'
(R):5'- TGGCTTGTTTGTTACACAGC -3'

Sequencing Primer
(F):5'- ATGGTCTCACATGTCCTTGAG -3'
(R):5'- GCTTGTTTGTTACACAGCAGTACAC -3'
Posted On 2015-04-29