Mutagenetix > Incidental Mutation

Incidental Mutation 'R0225:Kat2b'

33884

Institutional Source

Beutler Lab

Gene Symbol

Kat2b

Ensembl Gene

ENSMUSG00000000708

Gene Name

K(lysine) acetyltransferase 2B

Synonyms

A930006P13Rik, Pcaf

MMRRC Submission

038470-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0225 (G1)

Quality Score

198

Status

Validated

Chromosome

Chromosomal Location

53873889-53979748 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53948238 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 336 (E336G)

Ref Sequence

ENSEMBL: ENSMUSP00000000724 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000724] [ENSMUST00000164390] [ENSMUST00000166525]

AlphaFold

Q9JHD1

Predicted Effect

probably damaging
Transcript: ENSMUST00000000724
AA Change: E336G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000000724
Gene: ENSMUSG00000000708
AA Change: E336G

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:PCAF_N	1	210	6e-122	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166525

Meta Mutation Damage Score

0.3056

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	A	7: 120,139,378 (GRCm39)	L1470Q	probably damaging	Het
Abraxas2	G	A	7: 132,476,584 (GRCm39)	R105Q	probably damaging	Het
Arhgap23	G	T	11: 97,335,154 (GRCm39)	V70L	probably benign	Het
Bicd1	T	C	6: 149,414,448 (GRCm39)	I387T	probably benign	Het
Cd59b	G	A	2: 103,909,286 (GRCm39)		probably null	Het
Chn2	T	C	6: 54,267,436 (GRCm39)		probably benign	Het
Col18a1	T	C	10: 76,924,748 (GRCm39)	S14G	possibly damaging	Het
Col5a2	A	G	1: 45,446,195 (GRCm39)	I461T	probably benign	Het
Dele1	G	A	18: 38,394,317 (GRCm39)	V505I	probably benign	Het
Dnlz	T	C	2: 26,241,380 (GRCm39)	N116S	probably damaging	Het
Esyt2	A	G	12: 116,331,330 (GRCm39)	N736S	probably damaging	Het
F11	T	C	8: 45,702,114 (GRCm39)	T267A	probably benign	Het
Fam234b	T	G	6: 135,194,072 (GRCm39)	S242A	possibly damaging	Het
Gadd45b	A	G	10: 80,766,181 (GRCm39)	N11S	probably benign	Het
Garnl3	T	C	2: 32,896,816 (GRCm39)	T608A	possibly damaging	Het
Gata3	T	C	2: 9,879,620 (GRCm39)	T119A	probably benign	Het
Gm10647	A	G	9: 66,705,777 (GRCm39)		probably benign	Het
Gm10936	G	A	10: 117,084,035 (GRCm39)		noncoding transcript	Het
Gzmd	A	G	14: 56,367,161 (GRCm39)	W244R	probably damaging	Het
Hdac2	T	A	10: 36,865,180 (GRCm39)	D131E	probably benign	Het
Hira	T	A	16: 18,774,921 (GRCm39)	F949I	probably benign	Het
Ighv15-2	T	G	12: 114,528,657 (GRCm39)		probably benign	Het
Il3	A	G	11: 54,156,506 (GRCm39)		probably null	Het
Itgae	A	C	11: 73,002,168 (GRCm39)	M91L	probably benign	Het
Jkampl	A	G	6: 73,446,402 (GRCm39)	L49P	possibly damaging	Het
Kctd21	T	A	7: 96,997,298 (GRCm39)	I257N	probably benign	Het
Kif23	C	G	9: 61,832,976 (GRCm39)		probably benign	Het
Lgi3	A	T	14: 70,770,261 (GRCm39)	I109L	probably benign	Het
Lhx9	A	T	1: 138,766,417 (GRCm39)	C124S	probably damaging	Het
Lipo4	A	G	19: 33,479,006 (GRCm39)	V278A	probably benign	Het
Lrch3	T	A	16: 32,782,124 (GRCm39)		probably benign	Het
Lrp1b	T	C	2: 40,486,995 (GRCm39)	E142G	probably damaging	Het
Map9	G	A	3: 82,267,290 (GRCm39)		probably benign	Het
Miox	C	T	15: 89,218,657 (GRCm39)		probably benign	Het
Mndal	A	T	1: 173,685,079 (GRCm39)		probably benign	Het
Mug2	G	T	6: 122,051,673 (GRCm39)	V952L	possibly damaging	Het
Nepn	A	T	10: 52,276,533 (GRCm39)	T29S	probably damaging	Het
Or14a260	A	G	7: 85,984,803 (GRCm39)	I267T	probably benign	Het
Or4k5	T	G	14: 50,386,092 (GRCm39)	K80Q	probably damaging	Het
Or8d1b	A	G	9: 38,887,574 (GRCm39)	I201V	probably benign	Het
Or8k53	T	C	2: 86,178,072 (GRCm39)	I13V	possibly damaging	Het
Phf3	A	T	1: 30,844,146 (GRCm39)	D1604E	probably benign	Het
Plekhn1	T	C	4: 156,312,700 (GRCm39)	R53G	probably benign	Het
Prickle1	A	G	15: 93,408,658 (GRCm39)	L47P	possibly damaging	Het
Ptar1	T	A	19: 23,695,459 (GRCm39)	C309S	probably benign	Het
Rapgef2	A	T	3: 79,011,412 (GRCm39)	S224R	probably damaging	Het
Rimoc1	T	C	15: 4,015,776 (GRCm39)	K263E	probably damaging	Het
Siglecg	G	A	7: 43,060,595 (GRCm39)	G325D	probably damaging	Het
Skor2	A	T	18: 76,946,793 (GRCm39)	I172F	unknown	Het
Slc9a1	A	G	4: 133,147,916 (GRCm39)	K645E	probably benign	Het
St14	T	A	9: 31,019,580 (GRCm39)		probably null	Het
Tas2r120	T	A	6: 132,634,552 (GRCm39)	Y211*	probably null	Het
Tbxa2r	C	A	10: 81,168,734 (GRCm39)	T141K	possibly damaging	Het
Tpd52l1	A	G	10: 31,255,252 (GRCm39)	S32P	probably damaging	Het
Ttn	T	A	2: 76,540,468 (GRCm39)	R34173W	probably damaging	Het
Ttn	C	A	2: 76,623,474 (GRCm39)	V15368L	possibly damaging	Het
Tyms	A	G	5: 30,268,256 (GRCm39)	I148T	probably damaging	Het
Vmn1r45	A	T	6: 89,910,492 (GRCm39)	Y159*	probably null	Het
Vmn1r58	A	C	7: 5,413,865 (GRCm39)	S122A	probably benign	Het
Vmn2r13	C	A	5: 109,322,915 (GRCm39)	V125L	probably benign	Het
Vmn2r92	C	T	17: 18,388,219 (GRCm39)	A408V	probably damaging	Het
Vps13b	T	C	15: 35,887,407 (GRCm39)	I3272T	probably benign	Het
Wfdc8	A	G	2: 164,439,105 (GRCm39)	Y426H	probably benign	Het
Zfp948	A	T	17: 21,807,556 (GRCm39)	K249N	probably damaging	Het
Zfyve1	A	G	12: 83,601,847 (GRCm39)		probably benign	Het
Zyg11a	G	A	4: 108,061,838 (GRCm39)	T321I	probably damaging	Het

Other mutations in Kat2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- GGTGACTGATGCTCTGGTAGTAAAGTAATG -3'
(R):5'- AAACGCAACACTACAACTAACACCCT -3'

Sequencing Primer
(F):5'- tgacctaccagaatccagacc -3'
(R):5'- TACAACTAACACCCTGGCTTG -3'

Posted On

2013-05-09