Incidental Mutation 'R7418:Kat2b'
ID 575483
Institutional Source Beutler Lab
Gene Symbol Kat2b
Ensembl Gene ENSMUSG00000000708
Gene Name K(lysine) acetyltransferase 2B
Synonyms A930006P13Rik, Pcaf
MMRRC Submission 045496-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7418 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 53873889-53979748 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 53917953 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Isoleucine at position 104 (R104I)
Ref Sequence ENSEMBL: ENSMUSP00000000724 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000724] [ENSMUST00000164390]
AlphaFold Q9JHD1
Predicted Effect possibly damaging
Transcript: ENSMUST00000000724
AA Change: R104I

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000000724
Gene: ENSMUSG00000000708
AA Change: R104I

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 benign
Transcript: ENSMUST00000164390
AA Change: R26I

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000127659
Gene: ENSMUSG00000000708
AA Change: R26I

DomainStartEndE-ValueType
Pfam:PCAF_N 1 210 6e-122 PFAM
Meta Mutation Damage Score 0.5528 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 96% (66/69)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apaf1 T G 10: 90,859,697 (GRCm39) H827P probably benign Het
Atp8b3 A T 10: 80,365,926 (GRCm39) L308Q probably damaging Het
Ccdc180 T C 4: 45,904,616 (GRCm39) L404P probably damaging Het
Cdh13 G A 8: 120,039,264 (GRCm39) G569R probably damaging Het
Clec14a G A 12: 58,315,433 (GRCm39) T63I probably damaging Het
Cngb1 G T 8: 96,004,887 (GRCm39) S487* probably null Het
Cog5 A T 12: 31,883,240 (GRCm39) N390Y probably damaging Het
Col6a4 C T 9: 105,900,114 (GRCm39) G1670S probably damaging Het
Daxx T A 17: 34,129,579 (GRCm39) D53E probably benign Het
Dnah14 C T 1: 181,444,307 (GRCm39) T539I possibly damaging Het
Dnajc2 A G 5: 21,965,622 (GRCm39) probably null Het
Ehmt1 C T 2: 24,774,646 (GRCm39) G53R probably benign Het
Eif2b1 T A 5: 124,714,893 (GRCm39) N113Y probably benign Het
Eya3 A G 4: 132,408,159 (GRCm39) T152A possibly damaging Het
Fam234b G A 6: 135,194,009 (GRCm39) V221M probably benign Het
Fbxl13 T A 5: 21,786,981 (GRCm39) T319S probably benign Het
Fchsd2 G T 7: 100,920,831 (GRCm39) V479F possibly damaging Het
Fgd5 T C 6: 92,001,519 (GRCm39) S905P probably benign Het
Fthl17b C T X: 8,829,043 (GRCm39) R9Q possibly damaging Het
Fthl17b C T X: 8,829,047 (GRCm39) V8M possibly damaging Het
Fxn C T 19: 24,257,860 (GRCm39) V24I probably benign Het
Gapvd1 C T 2: 34,615,130 (GRCm39) D456N probably benign Het
Gm128 C T 3: 95,147,878 (GRCm39) V139M possibly damaging Het
Gm973 A G 1: 59,565,972 (GRCm39) T64A probably damaging Het
Gtf2h5 T A 17: 6,134,903 (GRCm39) N64K probably damaging Het
H2bw2 G A X: 135,828,471 (GRCm39) R120K unknown Het
Haus6 A G 4: 86,513,010 (GRCm39) S386P possibly damaging Het
Hsh2d A G 8: 72,950,638 (GRCm39) probably null Het
Htt T C 5: 34,947,697 (GRCm39) M125T possibly damaging Het
Inpp5d T A 1: 87,635,933 (GRCm39) probably null Het
Ints4 G A 7: 97,140,179 (GRCm39) A137T probably benign Het
Isl2 A G 9: 55,451,636 (GRCm39) D263G probably benign Het
Itgb5 T G 16: 33,705,464 (GRCm39) D251E probably damaging Het
Jpt1 A T 11: 115,389,095 (GRCm39) L116Q probably damaging Het
Kansl2 A G 15: 98,429,775 (GRCm39) S86P possibly damaging Het
Kcna10 C A 3: 107,102,362 (GRCm39) A331D probably benign Het
Kcnk3 G A 5: 30,779,675 (GRCm39) V242M possibly damaging Het
Kdm4a A G 4: 118,017,440 (GRCm39) L542P probably damaging Het
Kif20b T C 19: 34,907,087 (GRCm39) F119L probably damaging Het
Krtcap3 A T 5: 31,409,881 (GRCm39) H149L probably benign Het
Lhx4 A G 1: 155,586,005 (GRCm39) V102A probably damaging Het
Luc7l T A 17: 26,472,156 (GRCm39) probably benign Het
Myh15 G T 16: 48,975,900 (GRCm39) A1323S possibly damaging Het
Myl1 T A 1: 66,965,338 (GRCm39) R151S unknown Het
Naif1 A G 2: 32,342,583 (GRCm39) S45G probably benign Het
Ndst4 C T 3: 125,501,800 (GRCm39) T121I probably damaging Het
Neurod6 C T 6: 55,656,283 (GRCm39) R118Q probably damaging Het
Npl A T 1: 153,413,257 (GRCm39) probably null Het
Nr4a3 T C 4: 48,051,476 (GRCm39) Y77H probably damaging Het
Or4a81 A T 2: 89,619,320 (GRCm39) C125* probably null Het
Or4b1 T G 2: 89,979,831 (GRCm39) D173A probably damaging Het
Pex11a G A 7: 79,392,735 (GRCm39) probably benign Het
Rab44 T A 17: 29,359,470 (GRCm39) F553I unknown Het
Sbf2 C T 7: 109,965,028 (GRCm39) R1002H probably damaging Het
Sectm1a C A 11: 120,960,119 (GRCm39) probably null Het
Slit3 G A 11: 35,577,255 (GRCm39) V1163M possibly damaging Het
Sphk2 G A 7: 45,361,180 (GRCm39) R275C probably damaging Het
Tango6 A G 8: 107,415,466 (GRCm39) S96G probably benign Het
Tg A G 15: 66,568,432 (GRCm39) E1373G probably damaging Het
Traf3ip1 T A 1: 91,435,458 (GRCm39) probably null Het
Trp53 T C 11: 69,479,214 (GRCm39) F131L probably damaging Het
Ttc21a A T 9: 119,788,117 (GRCm39) E847D probably benign Het
Ttn A G 2: 76,602,791 (GRCm39) F18477S probably damaging Het
Usp25 A T 16: 76,910,730 (GRCm39) R929* probably null Het
Usp49 G T 17: 47,983,093 (GRCm39) E33* probably null Het
Vmn1r63 A G 7: 5,806,554 (GRCm39) V26A possibly damaging Het
Vmn1r74 A T 7: 11,581,081 (GRCm39) Y127F possibly damaging Het
Wdfy3 C T 5: 102,105,366 (GRCm39) V154I probably benign Het
Xdh A G 17: 74,220,960 (GRCm39) S590P possibly damaging Het
Zkscan4 A G 13: 21,668,799 (GRCm39) K446E probably damaging 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
R4009:Kat2b UTSW 17 53,951,769 (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
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'- CACGTGTGAGTCACTGTCAG -3'
(R):5'- CCCCAGCTCTTATAACATGGTG -3'

Sequencing Primer
(F):5'- GAGTCACTGTCAGATAATTAGTGTGC -3'
(R):5'- GGTCTGTCTCACCCATGAAG -3'
Posted On 2019-10-07