Mutagenetix > Incidental Mutation

Incidental Mutation 'R9049:Prkacb'

720338

Institutional Source

Beutler Lab

Gene Symbol

Prkacb

Ensembl Gene

ENSMUSG00000005034

Gene Name

protein kinase, cAMP dependent, catalytic, beta

Synonyms

Pkacb, cAMP-dependent protein kinase C beta

MMRRC Submission

068875-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.549) question?

Stock #

R9049 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

146435334-146518691 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 146461518 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143303 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005164] [ENSMUST00000102515] [ENSMUST00000106137] [ENSMUST00000106138] [ENSMUST00000197616] [ENSMUST00000199722]

AlphaFold

P68181

Predicted Effect

probably benign
Transcript: ENSMUST00000005164

SMART Domains

Protein: ENSMUSP00000005164
Gene: ENSMUSG00000005034

Domain	Start	End	E-Value	Type
S_TKc	91	345	1.07e-105	SMART
S_TK_X	346	398	2.47e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102515

SMART Domains

Protein: ENSMUSP00000099573
Gene: ENSMUSG00000005034

Domain	Start	End	E-Value	Type
S_TKc	44	298	5.3e-108	SMART
S_TK_X	299	344	2.1e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106137

SMART Domains

Protein: ENSMUSP00000101743
Gene: ENSMUSG00000005034

Domain	Start	End	E-Value	Type
S_TKc	31	285	1.07e-105	SMART
S_TK_X	286	338	2.47e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106138

SMART Domains

Protein: ENSMUSP00000101744
Gene: ENSMUSG00000005034

Domain	Start	End	E-Value	Type
S_TKc	32	286	1.07e-105	SMART
S_TK_X	287	339	2.47e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000197616

SMART Domains

Protein: ENSMUSP00000142490
Gene: ENSMUSG00000005034

Domain	Start	End	E-Value	Type
Pfam:Pkinase	69	189	4.6e-27	PFAM
Pfam:Pkinase_Tyr	69	189	1.1e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000199722

SMART Domains

Protein: ENSMUSP00000143303
Gene: ENSMUSG00000005034

Domain	Start	End	E-Value	Type
STYKc	1	106	1.5e-6	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (64/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the serine/threonine protein kinase family. The encoded protein is a catalytic subunit of cAMP (cyclic AMP)-dependent protein kinase, which mediates signalling though cAMP. cAMP signaling is important to a number of processes, including cell proliferaton and differentiation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2014]
PHENOTYPE: Homozygotes for a targeted null mutation eliminating the Cbeta1 subunit exhibit impaired hippocampal plasticity, including failure of low frequency stimulation to produce lasting depression and the elimination of mossy fiber long term potentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	A	G	1: 120,115,900 (GRCm39)	I118V	probably null	Het
Abcc9	A	G	6: 142,628,658 (GRCm39)	L362P	probably damaging	Het
Adam7	C	A	14: 68,762,674 (GRCm39)	V184F	probably benign	Het
Adgre4	T	C	17: 56,092,094 (GRCm39)	I118T	probably benign	Het
Akap9	T	C	5: 4,114,597 (GRCm39)	L3292P		Het
Akr1b10	A	G	6: 34,373,561 (GRCm39)	E308G	possibly damaging	Het
Aopep	A	G	13: 63,208,852 (GRCm39)	Y323C	probably benign	Het
Ash1l	T	C	3: 88,914,671 (GRCm39)	V1767A	probably benign	Het
Bpifb3	C	A	2: 153,767,810 (GRCm39)	N294K	probably benign	Het
Bpifb5	A	G	2: 154,070,096 (GRCm39)	N182S	probably benign	Het
C9orf72	A	G	4: 35,192,964 (GRCm39)	I455T	unknown	Het
Camkmt	A	G	17: 85,709,912 (GRCm39)	I205M	possibly damaging	Het
Ccdc88b	C	T	19: 6,826,442 (GRCm39)	R1091Q	probably benign	Het
Cfap58	A	T	19: 48,015,157 (GRCm39)		probably null	Het
Clca3a1	T	A	3: 144,733,143 (GRCm39)	I122L	probably benign	Het
Col6a3	T	A	1: 90,707,066 (GRCm39)	S2623C	unknown	Het
Cpne5	A	G	17: 29,379,332 (GRCm39)	S484P	probably damaging	Het
Cyp4f39	T	A	17: 32,705,965 (GRCm39)	L352Q	probably damaging	Het
Dcun1d1	T	C	3: 35,951,998 (GRCm39)	N183D	probably benign	Het
Dgkg	A	G	16: 22,419,338 (GRCm39)	V54A	probably benign	Het
Dnah12	T	A	14: 26,443,275 (GRCm39)	D561E	probably benign	Het
Dnah6	A	C	6: 73,119,275 (GRCm39)	L1536R	probably damaging	Het
Gm21834	G	A	17: 58,048,826 (GRCm39)	T130I	possibly damaging	Het
Hectd4	T	A	5: 121,451,955 (GRCm39)	V434E	possibly damaging	Het
Htr3a	C	A	9: 48,811,087 (GRCm39)	V459L	probably damaging	Het
Lonp2	T	C	8: 87,435,735 (GRCm39)	V657A	probably benign	Het
Mdfi	C	A	17: 48,135,479 (GRCm39)	V84L	probably damaging	Het
Mdm1	C	T	10: 117,982,605 (GRCm39)	T80M	probably benign	Het
Muc5ac	A	C	7: 141,362,712 (GRCm39)	I2008L	unknown	Het
Nomo1	A	G	7: 45,715,597 (GRCm39)	D681G	probably benign	Het
Or10g9	G	T	9: 39,911,919 (GRCm39)	N201K	possibly damaging	Het
Or14j6	G	A	17: 38,214,764 (GRCm39)	W109*	probably null	Het
Or1af1	C	G	2: 37,109,959 (GRCm39)	H153D	probably damaging	Het
Or1p1c	A	G	11: 74,161,115 (GRCm39)	K300R	possibly damaging	Het
Or5h25	T	G	16: 58,930,763 (GRCm39)	D70A	probably damaging	Het
Or5m5	A	G	2: 85,814,235 (GRCm39)	E17G	possibly damaging	Het
Or7e169	T	C	9: 19,757,045 (GRCm39)	Y290C	probably damaging	Het
Pip5k1c	C	A	10: 81,152,710 (GRCm39)		probably benign	Het
Pipox	A	G	11: 77,772,380 (GRCm39)	I330T	probably damaging	Het
Pira13	T	A	7: 3,819,890 (GRCm39)	T676S	unknown	Het
Pld3	C	T	7: 27,235,293 (GRCm39)	V312M	possibly damaging	Het
Pnisr	T	A	4: 21,854,391 (GRCm39)	W12R	unknown	Het
Polr3e	A	G	7: 120,538,462 (GRCm39)	K410R	probably benign	Het
Ppif	G	T	14: 25,694,836 (GRCm39)	V61L	possibly damaging	Het
Pramel5	T	C	4: 144,000,486 (GRCm39)	N30S	probably benign	Het
Prex2	T	G	1: 11,256,130 (GRCm39)	L1167R	probably damaging	Het
Prl3a1	T	A	13: 27,460,167 (GRCm39)	L217H	probably damaging	Het
Prop1	G	C	11: 50,842,948 (GRCm39)	Q80E	probably damaging	Het
Psma1	T	C	7: 113,865,764 (GRCm39)	I214V	probably benign	Het
Ptgfr	T	A	3: 151,541,404 (GRCm39)	I35F	probably benign	Het
Rcvrn	A	T	11: 67,586,568 (GRCm39)	Y109F	probably benign	Het
Repin1	A	G	6: 48,574,646 (GRCm39)	D525G	possibly damaging	Het
Slc12a2	A	T	18: 58,054,863 (GRCm39)	R835*	probably null	Het
Sqle	T	C	15: 59,189,711 (GRCm39)	F118L	probably benign	Het
Stard9	A	T	2: 120,510,418 (GRCm39)	Y333F	probably benign	Het
Tbc1d16	G	A	11: 119,100,090 (GRCm39)	R95C	probably damaging	Het
Tln1	C	A	4: 43,549,786 (GRCm39)	E542*	probably null	Het
Tmem161b	G	T	13: 84,442,754 (GRCm39)	A407S	probably benign	Het
Tnc	G	T	4: 63,918,247 (GRCm39)	D1221E	possibly damaging	Het
Tnks	T	C	8: 35,308,932 (GRCm39)	K1109R	probably damaging	Het
Tpp2	T	C	1: 43,992,502 (GRCm39)	V194A	possibly damaging	Het
Ust	G	A	10: 8,183,218 (GRCm39)	Q162*	probably null	Het
Utp15	T	C	13: 98,395,778 (GRCm39)	Y68C	probably damaging	Het
Vcan	A	T	13: 89,826,224 (GRCm39)	H3193Q	probably damaging	Het
Vmn2r55	T	C	7: 12,418,908 (GRCm39)	Y4C	probably damaging	Het

Other mutations in Prkacb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00925:Prkacb	APN	3	146,453,797 (GRCm39)	missense	probably benign	0.01
IGL01330:Prkacb	APN	3	146,457,266 (GRCm39)	missense	probably damaging	1.00
IGL01419:Prkacb	APN	3	146,461,448 (GRCm39)	start codon destroyed	probably null	0.49
IGL02533:Prkacb	APN	3	146,438,451 (GRCm39)	missense	possibly damaging	0.64
foxhound	UTSW	3	146,451,133 (GRCm39)	missense	probably damaging	1.00
PIT4445001:Prkacb	UTSW	3	146,461,446 (GRCm39)	missense	probably benign	0.13
R0666:Prkacb	UTSW	3	146,457,273 (GRCm39)	missense	probably damaging	0.99
R2169:Prkacb	UTSW	3	146,452,438 (GRCm39)	splice site	probably null
R4559:Prkacb	UTSW	3	146,451,147 (GRCm39)	unclassified	probably benign
R4613:Prkacb	UTSW	3	146,443,753 (GRCm39)	missense	probably damaging	1.00
R4931:Prkacb	UTSW	3	146,453,732 (GRCm39)	missense	possibly damaging	0.91
R6474:Prkacb	UTSW	3	146,461,479 (GRCm39)	missense	probably damaging	1.00
R6505:Prkacb	UTSW	3	146,438,401 (GRCm39)	missense	probably damaging	1.00
R6654:Prkacb	UTSW	3	146,456,298 (GRCm39)	missense	possibly damaging	0.77
R6864:Prkacb	UTSW	3	146,451,133 (GRCm39)	missense	probably damaging	1.00
R6940:Prkacb	UTSW	3	146,457,254 (GRCm39)	missense	probably damaging	1.00
R8979:Prkacb	UTSW	3	146,518,411 (GRCm39)	missense	probably benign	0.00
R9015:Prkacb	UTSW	3	146,456,239 (GRCm39)	missense	probably null	0.98
R9520:Prkacb	UTSW	3	146,456,289 (GRCm39)	missense	probably damaging	1.00
R9716:Prkacb	UTSW	3	146,463,475 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAGGCATTCTCACTGACTG -3'
(R):5'- AGGGGCTCACATTGGAAGTG -3'

Sequencing Primer
(F):5'- CACTGACTGGATTTTAAAGTGAAGG -3'
(R):5'- GCTCACATTGGAAGTGAAATATGACC -3'

Posted On

2022-07-20