Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00925:Prkacb'

27096

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prkacb

Ensembl Gene

ENSMUSG00000005034

Gene Name

protein kinase, cAMP dependent, catalytic, beta

Synonyms

Pkacb, cAMP-dependent protein kinase C beta

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.494) question?

Stock #

IGL00925

Quality Score

Status

Chromosome

Chromosomal Location

146435334-146518691 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 146453797 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Histidine at position 167 (P167H)

Ref Sequence

ENSEMBL: ENSMUSP00000142490 (fasta)

Gene Model

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

AlphaFold

P68181

Predicted Effect

probably benign
Transcript: ENSMUST00000005164
AA Change: P189H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000005164
Gene: ENSMUSG00000005034
AA Change: P189H

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
AA Change: P142H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099573
Gene: ENSMUSG00000005034
AA Change: P142H

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
AA Change: P129H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000101743
Gene: ENSMUSG00000005034
AA Change: P129H

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
AA Change: P130H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000101744
Gene: ENSMUSG00000005034
AA Change: P130H

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

noncoding transcript
Transcript: ENSMUST00000144369

Predicted Effect

probably benign
Transcript: ENSMUST00000197616
AA Change: P167H

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000142490
Gene: ENSMUSG00000005034
AA Change: P167H

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
AA Change: P84H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000143303
Gene: ENSMUSG00000005034
AA Change: P84H

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

Coding Region Coverage

Validation Efficiency

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoc1l2	T	A	6: 48,907,974 (GRCm39)	Y325N	probably damaging	Het
Atoh8	A	G	6: 72,211,553 (GRCm39)	V199A	probably benign	Het
Celf2	A	T	2: 6,726,388 (GRCm39)	D6E	probably benign	Het
Cep170	T	C	1: 176,621,090 (GRCm39)	D29G	probably damaging	Het
Cpb2	T	C	14: 75,498,190 (GRCm39)	Y118H	possibly damaging	Het
Esf1	A	G	2: 140,009,737 (GRCm39)	S200P	probably benign	Het
Glmn	A	T	5: 107,705,193 (GRCm39)	N474K	probably damaging	Het
Maea	T	C	5: 33,529,645 (GRCm39)	V377A	probably benign	Het
Npepps	A	G	11: 97,171,109 (GRCm39)	V59A	probably damaging	Het
Ocrl	A	G	X: 47,035,974 (GRCm39)	E565G	probably benign	Het
Or5al7	T	C	2: 85,993,264 (GRCm39)	T10A	probably benign	Het
Pclo	T	C	5: 14,816,755 (GRCm39)	S4544P	unknown	Het
Per3	T	C	4: 151,098,055 (GRCm39)	Y693C	probably benign	Het
Ptprt	A	G	2: 161,498,083 (GRCm39)	S837P	possibly damaging	Het
Sema7a	G	T	9: 57,863,121 (GRCm39)	C264F	probably damaging	Het
Slitrk4	G	T	X: 63,315,657 (GRCm39)	P337T	probably damaging	Het
Tango6	T	G	8: 107,422,077 (GRCm39)		probably benign	Het
Tecta	T	C	9: 42,286,331 (GRCm39)	D775G	probably benign	Het
Tmem45a2	T	A	16: 56,865,618 (GRCm39)	N189Y	probably damaging	Het
Ttc8	A	G	12: 98,942,277 (GRCm39)	N364S	probably damaging	Het
Uhrf1	A	G	17: 56,627,535 (GRCm39)	D697G	probably benign	Het
Vmn1r185	G	A	7: 26,310,615 (GRCm39)	L297F	probably benign	Het
Vmn2r11	T	C	5: 109,194,885 (GRCm39)	T814A	probably benign	Het
Wdr36	A	G	18: 32,978,684 (GRCm39)	T198A	possibly damaging	Het
Zfhx2	G	A	14: 55,310,518 (GRCm39)	P676L	probably benign	Het
Zfp451	A	G	1: 33,815,342 (GRCm39)		probably benign	Het

Other mutations in Prkacb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R9049:Prkacb	UTSW	3	146,461,518 (GRCm39)	splice site	probably benign
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

Posted On

2013-04-17