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

Pcaf, A930006P13Rik

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

53566861-53672720 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53641210 bp (GRCm38)

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: 120,540,155 (GRCm38)	L1470Q	probably damaging	Het
Abraxas2	G	A	7: 132,874,855 (GRCm38)	R105Q	probably damaging	Het
Arhgap23	G	T	11: 97,444,328 (GRCm38)	V70L	probably benign	Het
Bicd1	T	C	6: 149,512,950 (GRCm38)	I387T	probably benign	Het
Cd59b	G	A	2: 104,078,941 (GRCm38)		probably null	Het
Chn2	T	C	6: 54,290,451 (GRCm38)		probably benign	Het
Col18a1	T	C	10: 77,088,914 (GRCm38)	S14G	possibly damaging	Het
Col5a2	A	G	1: 45,407,035 (GRCm38)	I461T	probably benign	Het
Dele1	G	A	18: 38,261,264 (GRCm38)	V505I	probably benign	Het
Dnlz	T	C	2: 26,351,368 (GRCm38)	N116S	probably damaging	Het
Esyt2	A	G	12: 116,367,710 (GRCm38)	N736S	probably damaging	Het
F11	T	C	8: 45,249,077 (GRCm38)	T267A	probably benign	Het
Fam234b	T	G	6: 135,217,074 (GRCm38)	S242A	possibly damaging	Het
Gadd45b	A	G	10: 80,930,347 (GRCm38)	N11S	probably benign	Het
Garnl3	T	C	2: 33,006,804 (GRCm38)	T608A	possibly damaging	Het
Gata3	T	C	2: 9,874,809 (GRCm38)	T119A	probably benign	Het
Gm10647	A	G	9: 66,798,495 (GRCm38)		probably benign	Het
Gm10936	G	A	10: 117,248,130 (GRCm38)		noncoding transcript	Het
Gzmd	A	G	14: 56,129,704 (GRCm38)	W244R	probably damaging	Het
Hdac2	T	A	10: 36,989,184 (GRCm38)	D131E	probably benign	Het
Hira	T	A	16: 18,956,171 (GRCm38)	F949I	probably benign	Het
Ighv15-2	T	G	12: 114,565,037 (GRCm38)		probably benign	Het
Il3	A	G	11: 54,265,680 (GRCm38)		probably null	Het
Itgae	A	C	11: 73,111,342 (GRCm38)	M91L	probably benign	Het
Jkampl	A	G	6: 73,469,419 (GRCm38)	L49P	possibly damaging	Het
Kctd21	T	A	7: 97,348,091 (GRCm38)	I257N	probably benign	Het
Kif23	C	G	9: 61,925,694 (GRCm38)		probably benign	Het
Lgi3	A	T	14: 70,532,821 (GRCm38)	I109L	probably benign	Het
Lhx9	A	T	1: 138,838,679 (GRCm38)	C124S	probably damaging	Het
Lipo4	A	G	19: 33,501,606 (GRCm38)	V278A	probably benign	Het
Lrch3	T	A	16: 32,961,754 (GRCm38)		probably benign	Het
Lrp1b	T	C	2: 40,596,983 (GRCm38)	E142G	probably damaging	Het
Map9	G	A	3: 82,359,983 (GRCm38)		probably benign	Het
Miox	C	T	15: 89,334,454 (GRCm38)		probably benign	Het
Mndal	A	T	1: 173,857,513 (GRCm38)		probably benign	Het
Mug2	G	T	6: 122,074,714 (GRCm38)	V952L	possibly damaging	Het
Nepn	A	T	10: 52,400,437 (GRCm38)	T29S	probably damaging	Het
Or14a260	A	G	7: 86,335,595 (GRCm38)	I267T	probably benign	Het
Or4k5	T	G	14: 50,148,635 (GRCm38)	K80Q	probably damaging	Het
Or8d1b	A	G	9: 38,976,278 (GRCm38)	I201V	probably benign	Het
Or8k53	T	C	2: 86,347,728 (GRCm38)	I13V	possibly damaging	Het
Phf3	A	T	1: 30,805,065 (GRCm38)	D1604E	probably benign	Het
Plekhn1	T	C	4: 156,228,243 (GRCm38)	R53G	probably benign	Het
Prickle1	A	G	15: 93,510,777 (GRCm38)	L47P	possibly damaging	Het
Ptar1	T	A	19: 23,718,095 (GRCm38)	C309S	probably benign	Het
Rapgef2	A	T	3: 79,104,105 (GRCm38)	S224R	probably damaging	Het
Rimoc1	T	C	15: 3,986,294 (GRCm38)	K263E	probably damaging	Het
Siglecg	G	A	7: 43,411,171 (GRCm38)	G325D	probably damaging	Het
Skor2	A	T	18: 76,859,098 (GRCm38)	I172F	unknown	Het
Slc9a1	A	G	4: 133,420,605 (GRCm38)	K645E	probably benign	Het
St14	T	A	9: 31,108,284 (GRCm38)		probably null	Het
Tas2r120	T	A	6: 132,657,589 (GRCm38)	Y211*	probably null	Het
Tbxa2r	C	A	10: 81,332,900 (GRCm38)	T141K	possibly damaging	Het
Tpd52l1	A	G	10: 31,379,256 (GRCm38)	S32P	probably damaging	Het
Ttn	C	A	2: 76,793,130 (GRCm38)	V15368L	possibly damaging	Het
Ttn	T	A	2: 76,710,124 (GRCm38)	R34173W	probably damaging	Het
Tyms	A	G	5: 30,063,258 (GRCm38)	I148T	probably damaging	Het
Vmn1r45	A	T	6: 89,933,510 (GRCm38)	Y159*	probably null	Het
Vmn1r58	A	C	7: 5,410,866 (GRCm38)	S122A	probably benign	Het
Vmn2r13	C	A	5: 109,175,049 (GRCm38)	V125L	probably benign	Het
Vmn2r92	C	T	17: 18,167,957 (GRCm38)	A408V	probably damaging	Het
Vps13b	T	C	15: 35,887,261 (GRCm38)	I3272T	probably benign	Het
Wfdc8	A	G	2: 164,597,185 (GRCm38)	Y426H	probably benign	Het
Zfp948	A	T	17: 21,587,294 (GRCm38)	K249N	probably damaging	Het
Zfyve1	A	G	12: 83,555,073 (GRCm38)		probably benign	Het
Zyg11a	G	A	4: 108,204,641 (GRCm38)	T321I	probably damaging	Het

Other mutations in Kat2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00473:Kat2b	APN	17	53,663,623 (GRCm38)	missense	possibly damaging	0.46
IGL00793:Kat2b	APN	17	53,665,824 (GRCm38)	missense	probably benign	0.00
IGL01628:Kat2b	APN	17	53,610,897 (GRCm38)	missense	possibly damaging	0.89
IGL02494:Kat2b	APN	17	53,653,205 (GRCm38)	missense	probably damaging	1.00
IGL03347:Kat2b	APN	17	53,624,351 (GRCm38)	critical splice acceptor site	probably null
cakewalk	UTSW	17	53,638,522 (GRCm38)	missense	probably damaging	1.00
fracking	UTSW	17	53,624,422 (GRCm38)	missense	probably damaging	1.00
D605:Kat2b	UTSW	17	53,629,330 (GRCm38)	missense	probably damaging	1.00
R0060:Kat2b	UTSW	17	53,654,543 (GRCm38)	missense	probably damaging	1.00
R0372:Kat2b	UTSW	17	53,638,537 (GRCm38)	missense	possibly damaging	0.95
R0638:Kat2b	UTSW	17	53,644,743 (GRCm38)	splice site	probably benign
R0639:Kat2b	UTSW	17	53,567,538 (GRCm38)	missense	probably benign	0.38
R0780:Kat2b	UTSW	17	53,567,448 (GRCm38)	missense	unknown
R1240:Kat2b	UTSW	17	53,624,397 (GRCm38)	missense	probably benign	0.00
R2346:Kat2b	UTSW	17	53,610,904 (GRCm38)	missense	probably benign	0.07
R3402:Kat2b	UTSW	17	53,665,853 (GRCm38)	missense	probably damaging	1.00
R3776:Kat2b	UTSW	17	53,567,581 (GRCm38)	splice site	probably null
R4009:Kat2b	UTSW	17	53,644,741 (GRCm38)	splice site	probably null
R4011:Kat2b	UTSW	17	53,644,741 (GRCm38)	splice site	probably null
R4543:Kat2b	UTSW	17	53,653,140 (GRCm38)	missense	probably benign
R4598:Kat2b	UTSW	17	53,670,798 (GRCm38)	missense	probably benign	0.02
R4785:Kat2b	UTSW	17	53,653,203 (GRCm38)	missense	possibly damaging	0.81
R5079:Kat2b	UTSW	17	53,663,638 (GRCm38)	missense	probably damaging	1.00
R5475:Kat2b	UTSW	17	53,663,581 (GRCm38)	missense	probably damaging	1.00
R6993:Kat2b	UTSW	17	53,638,522 (GRCm38)	missense	probably damaging	1.00
R7047:Kat2b	UTSW	17	53,663,569 (GRCm38)	missense	probably benign	0.01
R7058:Kat2b	UTSW	17	53,665,866 (GRCm38)	missense	probably benign	0.00
R7199:Kat2b	UTSW	17	53,670,678 (GRCm38)	missense	probably damaging	1.00
R7276:Kat2b	UTSW	17	53,624,422 (GRCm38)	missense	probably damaging	1.00
R7418:Kat2b	UTSW	17	53,610,925 (GRCm38)	missense	possibly damaging	0.94
R7535:Kat2b	UTSW	17	53,624,403 (GRCm38)	missense	probably damaging	1.00
R7561:Kat2b	UTSW	17	53,641,258 (GRCm38)	missense	probably benign	0.22
R7723:Kat2b	UTSW	17	53,638,387 (GRCm38)	missense	possibly damaging	0.62
R7976:Kat2b	UTSW	17	53,648,807 (GRCm38)	missense	probably benign	0.00
R8250:Kat2b	UTSW	17	53,663,536 (GRCm38)	missense	probably damaging	1.00
R8277:Kat2b	UTSW	17	53,641,253 (GRCm38)	missense	probably benign	0.01
R8969:Kat2b	UTSW	17	53,660,088 (GRCm38)	nonsense	probably null
R9136:Kat2b	UTSW	17	53,629,336 (GRCm38)	missense	probably benign	0.00
R9281:Kat2b	UTSW	17	53,624,397 (GRCm38)	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