Mutagenetix > Incidental Mutation

Incidental Mutation 'R0666:Prkacb'

62009

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

038851-MU

Accession Numbers

Essential gene?

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

Stock #

R0666 (G1)

Quality Score

179

Status

Validated

Chromosome

Chromosomal Location

146435334-146518691 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 146457273 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 136 (T136S)

Ref Sequence

ENSEMBL: ENSMUSP00000005164 (fasta)

Gene Model

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

AlphaFold

P68181

Predicted Effect

probably damaging
Transcript: ENSMUST00000005164
AA Change: T136S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000005164
Gene: ENSMUSG00000005034
AA Change: T136S

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: T89S

PolyPhen 2 Score 0.345 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000099573
Gene: ENSMUSG00000005034
AA Change: T89S

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

possibly damaging
Transcript: ENSMUST00000106137
AA Change: T76S

PolyPhen 2 Score 0.738 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000101743
Gene: ENSMUSG00000005034
AA Change: T76S

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

possibly damaging
Transcript: ENSMUST00000106138
AA Change: T77S

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101744
Gene: ENSMUSG00000005034
AA Change: T77S

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

possibly damaging
Transcript: ENSMUST00000197616
AA Change: T114S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142490
Gene: ENSMUSG00000005034
AA Change: T114S

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

possibly damaging
Transcript: ENSMUST00000199722
AA Change: T31S

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143303
Gene: ENSMUSG00000005034
AA Change: T31S

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

Meta Mutation Damage Score

0.3450

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.7%

Validation Efficiency

100% (89/89)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	T	A	12: 52,958,591 (GRCm39)	V782E	probably damaging	Het
Atg9a	A	G	1: 75,161,734 (GRCm39)	L604P	probably damaging	Het
Atp1a3	T	C	7: 24,689,974 (GRCm39)	I482V	probably benign	Het
Bltp2	T	G	11: 78,178,813 (GRCm39)	M2026R	probably damaging	Het
Bltp2	T	A	11: 78,168,038 (GRCm39)	L1491*	probably null	Het
Ccdc18	T	G	5: 108,311,530 (GRCm39)	V412G	probably benign	Het
Ccn6	T	C	10: 39,027,285 (GRCm39)	R316G	probably benign	Het
Cct6a	A	G	5: 129,871,449 (GRCm39)		noncoding transcript	Het
Clpx	A	G	9: 65,217,507 (GRCm39)	N25S	probably damaging	Het
Cnpy2	T	A	10: 128,162,894 (GRCm39)	C171*	probably null	Het
Cntnap3	C	T	13: 64,905,211 (GRCm39)	D857N	probably damaging	Het
Col5a1	A	G	2: 27,922,697 (GRCm39)	Y255C	probably damaging	Het
Coro7	A	T	16: 4,449,775 (GRCm39)	F638Y	possibly damaging	Het
Cpd	A	G	11: 76,673,153 (GRCm39)	F1331L	probably damaging	Het
Csmd1	A	T	8: 16,119,063 (GRCm39)	I1842N	possibly damaging	Het
Dgkg	T	A	16: 22,381,480 (GRCm39)	D490V	probably damaging	Het
Dnah9	A	T	11: 65,976,284 (GRCm39)	M1255K	probably benign	Het
E2f1	A	G	2: 154,402,849 (GRCm39)	V306A	probably benign	Het
Entpd1	A	G	19: 40,648,350 (GRCm39)		probably benign	Het
Esrrb	T	A	12: 86,552,676 (GRCm39)	I222N	probably benign	Het
Flt4	G	T	11: 49,516,274 (GRCm39)	A126S	possibly damaging	Het
Galnt11	C	T	5: 25,457,145 (GRCm39)	T237I	possibly damaging	Het
Galnt2l	A	T	8: 122,997,727 (GRCm39)		probably benign	Het
Gbf1	A	G	19: 46,250,983 (GRCm39)		probably benign	Het
H2-T9	T	C	17: 36,438,726 (GRCm39)	T222A	possibly damaging	Het
Herc1	T	A	9: 66,392,170 (GRCm39)		probably benign	Het
Hsph1	T	C	5: 149,554,967 (GRCm39)	Y105C	probably damaging	Het
Il23r	T	C	6: 67,411,664 (GRCm39)	T358A	probably benign	Het
Il2ra	C	T	2: 11,647,884 (GRCm39)		probably benign	Het
Kbtbd4	G	T	2: 90,744,459 (GRCm39)		probably benign	Het
Kcnt1	A	G	2: 25,781,255 (GRCm39)		probably benign	Het
Kng2	A	G	16: 22,815,872 (GRCm39)		probably benign	Het
Lap3	C	T	5: 45,669,270 (GRCm39)	T473I	possibly damaging	Het
Lrrk2	T	C	15: 91,641,273 (GRCm39)		probably null	Het
Map1s	A	G	8: 71,366,696 (GRCm39)	N534D	possibly damaging	Het
Mtg1	G	A	7: 139,724,257 (GRCm39)	V122I	probably benign	Het
Myadm	T	A	7: 3,345,865 (GRCm39)	I209K	probably damaging	Het
Ntsr2	G	A	12: 16,703,981 (GRCm39)	V75I	probably benign	Het
Or4b1b	A	T	2: 90,112,212 (GRCm39)	S236T	probably damaging	Het
Or8u10	G	A	2: 85,915,557 (GRCm39)	A188V	probably benign	Het
Pfn1	T	C	11: 70,545,192 (GRCm39)	T39A	probably benign	Het
Pipox	T	A	11: 77,774,651 (GRCm39)	K144M	probably benign	Het
Plekhh1	G	A	12: 79,115,889 (GRCm39)	E811K	probably damaging	Het
Pnpla3	T	A	15: 84,063,506 (GRCm39)	W295R	probably benign	Het
Ralbp1	T	A	17: 66,161,124 (GRCm39)	N473I	probably benign	Het
Rbp4	G	A	19: 38,106,908 (GRCm39)	T127M	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rps3a1	G	A	3: 86,045,424 (GRCm39)		probably benign	Het
Scg3	G	T	9: 75,551,222 (GRCm39)	Y429*	probably null	Het
Shisal2b	G	T	13: 104,994,862 (GRCm39)	T95K	possibly damaging	Het
Spag5	T	C	11: 78,204,222 (GRCm39)	S492P	probably damaging	Het
St7	T	A	6: 17,934,238 (GRCm39)	M540K	probably damaging	Het
Stxbp3	C	A	3: 108,712,618 (GRCm39)	V281F	possibly damaging	Het
Sun5	A	G	2: 153,700,968 (GRCm39)	V242A	possibly damaging	Het
Susd5	G	T	9: 113,924,852 (GRCm39)	R245L	possibly damaging	Het
Syne2	A	G	12: 75,969,787 (GRCm39)	E954G	probably damaging	Het
Synpo2	A	T	3: 122,907,708 (GRCm39)	V536E	probably damaging	Het
Tas2r140	T	C	6: 133,032,405 (GRCm39)	I118V	probably benign	Het
Tbx18	C	A	9: 87,606,462 (GRCm39)	V228L	probably benign	Het
Tdrd9	T	A	12: 111,974,014 (GRCm39)		probably benign	Het
Tektl1	C	A	10: 78,586,381 (GRCm39)	L223F	probably benign	Het
Tg	T	C	15: 66,609,370 (GRCm39)	M310T	probably benign	Het
Ticam2	T	A	18: 46,693,718 (GRCm39)	D123V	probably damaging	Het
Timm23	A	G	14: 31,920,993 (GRCm39)		probably benign	Het
Tinag	C	T	9: 76,912,969 (GRCm39)	R280H	probably benign	Het
Topbp1	G	A	9: 103,186,011 (GRCm39)	R51K	probably benign	Het
Tor1b	A	G	2: 30,843,925 (GRCm39)	I121V	probably damaging	Het
Tpmt	C	A	13: 47,185,930 (GRCm39)	G148V	probably damaging	Het
Tubb1	A	G	2: 174,299,548 (GRCm39)	E410G	probably damaging	Het
Ubash3b	C	A	9: 40,958,360 (GRCm39)	V7L	possibly damaging	Het
Ube2o	C	T	11: 116,433,661 (GRCm39)	E686K	probably damaging	Het
Unc13d	T	A	11: 115,960,318 (GRCm39)		probably benign	Het
Vmn1r183	A	T	7: 23,754,601 (GRCm39)	M135L	probably benign	Het
Xkr8	T	C	4: 132,459,649 (GRCm39)	Y43C	probably damaging	Het
Zc3h4	T	A	7: 16,168,697 (GRCm39)	N935K	unknown	Het
Zc3h7a	G	A	16: 10,974,167 (GRCm39)		probably benign	Het
Zfp84	C	T	7: 29,476,276 (GRCm39)	H323Y	probably damaging	Het
Zfp873	G	T	10: 81,896,595 (GRCm39)	S442I	possibly damaging	Het
Zfp938	A	G	10: 82,061,606 (GRCm39)	L338P	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
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

Predicted Primers

PCR Primer
(F):5'- TGATCCAGAAAGAAGCAGGACTCCC -3'
(R):5'- GCTGCAAACTTGACTCTTACCACCC -3'

Sequencing Primer
(F):5'- CACAATCCAGGGCTTAGAGTG -3'
(R):5'- GACTCTTACCACCCTGGTTG -3'

Posted On

2013-07-30