Incidental Mutation 'R7561:Kat2b'
ID 585161
Institutional Source Beutler Lab
Gene Symbol Kat2b
Ensembl Gene ENSMUSG00000000708
Gene Name K(lysine) acetyltransferase 2B
Synonyms A930006P13Rik, Pcaf
MMRRC Submission 045654-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7561 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 53873889-53979748 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 53948286 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 352 (L352R)
Ref Sequence ENSEMBL: ENSMUSP00000000724 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000724] [ENSMUST00000164390] [ENSMUST00000166525]
AlphaFold Q9JHD1
Predicted Effect probably benign
Transcript: ENSMUST00000000724
AA Change: L352R

PolyPhen 2 Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000000724
Gene: ENSMUSG00000000708
AA Change: L352R

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
SMART Domains Protein: ENSMUSP00000127659
Gene: ENSMUSG00000000708

DomainStartEndE-ValueType
Pfam:PCAF_N 1 210 6e-122 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166525
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik C A 13: 77,341,314 (GRCm39) N314K probably benign Het
A430005L14Rik T A 4: 154,045,097 (GRCm39) I80N probably benign Het
Abca2 A G 2: 25,336,707 (GRCm39) H2271R probably damaging Het
Acad8 T C 9: 26,890,538 (GRCm39) I257V probably benign Het
Acot12 A T 13: 91,918,243 (GRCm39) T179S probably damaging Het
Adcy10 A G 1: 165,386,741 (GRCm39) R1155G possibly damaging Het
Adcy9 C T 16: 4,236,028 (GRCm39) C461Y probably damaging Het
Adgrf1 G A 17: 43,622,000 (GRCm39) V746I possibly damaging Het
Agbl1 C A 7: 76,348,509 (GRCm39) Q869K unknown Het
AI837181 T G 19: 5,476,491 (GRCm39) V218G probably damaging Het
Alg9 T C 9: 50,754,074 (GRCm39) S585P possibly damaging Het
Arhgef38 T C 3: 132,866,489 (GRCm39) Q216R Het
Asb4 A T 6: 5,430,968 (GRCm39) H401L possibly damaging Het
Atg7 G T 6: 114,650,002 (GRCm39) A60S possibly damaging Het
Atp10a T A 7: 58,476,881 (GRCm39) C1199S probably damaging Het
Blm G A 7: 80,152,276 (GRCm39) A557V probably damaging Het
Cbln1 A T 8: 88,198,624 (GRCm39) M82K probably benign Het
Ccdc183 T G 2: 25,501,529 (GRCm39) I293L probably benign Het
Col6a3 A G 1: 90,703,463 (GRCm39) S3035P unknown Het
Cux2 A T 5: 122,017,931 (GRCm39) S206T probably benign Het
Cyfip2 T C 11: 46,161,425 (GRCm39) D355G probably benign Het
Dhrs2 A G 14: 55,474,698 (GRCm39) H111R probably benign Het
Eif3b T G 5: 140,428,109 (GRCm39) D781E probably benign Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Fermt1 A T 2: 132,758,008 (GRCm39) I469N probably benign Het
Fgf20 G T 8: 40,732,975 (GRCm39) N154K possibly damaging Het
Fndc10 T A 4: 155,779,328 (GRCm39) V124E probably damaging Het
Fra10ac1 T C 19: 38,210,324 (GRCm39) D13G probably damaging Het
Gpatch1 A G 7: 35,008,800 (GRCm39) S74P probably damaging Het
Gramd1b G A 9: 40,312,911 (GRCm39) T19I unknown Het
Grm8 T C 6: 27,429,524 (GRCm39) T457A probably benign Het
Gucy2g C A 19: 55,194,772 (GRCm39) V882L probably benign Het
Hectd4 G A 5: 121,429,288 (GRCm39) R811H possibly damaging Het
Hk1 C T 10: 62,116,807 (GRCm39) probably null Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Il10ra T A 9: 45,167,117 (GRCm39) D480V probably benign Het
Il18rap A T 1: 40,563,537 (GRCm39) H22L probably benign Het
Inpp5a T A 7: 139,147,338 (GRCm39) I321N probably damaging Het
Insyn1 A G 9: 58,406,687 (GRCm39) D199G probably damaging Het
Katnip C T 7: 125,441,894 (GRCm39) S627L probably benign Het
Kcna1 A T 6: 126,619,108 (GRCm39) V404E probably damaging Het
Mcm3ap T A 10: 76,328,712 (GRCm39) V1110E possibly damaging Het
Moxd2 C T 6: 40,864,337 (GRCm39) R31H probably damaging Het
Mpdz A T 4: 81,225,388 (GRCm39) N1368K probably damaging Het
Mpzl3 G T 9: 44,966,610 (GRCm39) V24F probably benign Het
Mybph G A 1: 134,121,465 (GRCm39) probably null Het
Ncam1 G T 9: 49,476,242 (GRCm39) D282E probably damaging Het
Ntrk2 G A 13: 59,009,202 (GRCm39) C331Y probably benign Het
Nwd2 T A 5: 63,964,434 (GRCm39) C1339* probably null Het
Or3a1d T C 11: 74,238,436 (GRCm39) probably benign Het
Or5b98 T C 19: 12,931,403 (GRCm39) V150A probably benign Het
Or8k33 T C 2: 86,383,661 (GRCm39) D269G probably benign Het
Osbpl6 C A 2: 76,416,498 (GRCm39) T672N probably damaging Het
Pds5b T C 5: 150,662,783 (GRCm39) probably null Het
Perm1 A G 4: 156,303,217 (GRCm39) N587S probably benign Het
Pex7 A T 10: 19,770,012 (GRCm39) C165* probably null Het
Pik3r4 A G 9: 105,564,446 (GRCm39) T1347A possibly damaging Het
Pitpnm3 T C 11: 71,942,008 (GRCm39) D933G probably benign Het
Rnf213 T A 11: 119,332,545 (GRCm39) F2586I Het
Scn10a A G 9: 119,523,390 (GRCm39) M1T probably null Het
Sdhaf3 T A 6: 6,956,079 (GRCm39) L18Q not run Het
Septin7 A G 9: 25,209,151 (GRCm39) E256G possibly damaging Het
Slc35b2 A G 17: 45,877,727 (GRCm39) T236A probably damaging Het
Slc4a4 G A 5: 89,347,556 (GRCm39) G766R probably damaging Het
Slco6c1 G T 1: 97,000,691 (GRCm39) S537Y probably damaging Het
Srp68 T C 11: 116,139,593 (GRCm39) E452G probably damaging Het
Taf2 A T 15: 54,919,229 (GRCm39) M382K probably benign Het
Tas2r131 A G 6: 132,933,921 (GRCm39) L296P probably benign Het
Tlr9 A G 9: 106,103,148 (GRCm39) E813G probably benign Het
Trmt44 T C 5: 35,715,336 (GRCm39) E659G possibly damaging Het
Ttc21b G A 2: 66,047,548 (GRCm39) A849V possibly damaging Het
Unc45a G T 7: 79,981,334 (GRCm39) S489R possibly damaging Het
Xrn1 T C 9: 95,881,511 (GRCm39) V795A probably benign Het
Zbtb22 A T 17: 34,136,952 (GRCm39) T366S probably benign Het
Zcchc10 T A 11: 53,215,545 (GRCm39) H6Q probably benign Het
Zfp60 A G 7: 27,447,955 (GRCm39) K208E probably damaging Het
Zfp780b A T 7: 27,664,037 (GRCm39) C173S possibly damaging Het
Zfp786 C A 6: 47,796,667 (GRCm39) R757L probably benign Het
Zfp936 G A 7: 42,839,339 (GRCm39) A269T probably damaging Het
Zfp976 T C 7: 42,265,701 (GRCm39) Y29C 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
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
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'- CATCCGCAGATGCTGTGAGTTAC -3'
(R):5'- GATGCAGATACCAGACTTACAGG -3'

Sequencing Primer
(F):5'- CCTGAGGACATTGTATTGCAGTC -3'
(R):5'- GATACCAGACTTACAGGCTCTAG -3'
Posted On 2019-10-17