Mutagenetix > Incidental Mutation

Incidental Mutation 'R0485:Prkar2b'

42228

Institutional Source

Beutler Lab

Gene Symbol

Prkar2b

Ensembl Gene

ENSMUSG00000002997

Gene Name

protein kinase, cAMP dependent regulatory, type II beta

Synonyms

RII(beta), Pkarb2, PKARIIbeta

MMRRC Submission

038684-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.329) question?

Stock #

R0485 (G1)

Quality Score

203

Status

Validated

Chromosome

Chromosomal Location

32008475-32111295 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 32026034 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135290 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003079] [ENSMUST00000036497] [ENSMUST00000146865]

AlphaFold

P31324

Predicted Effect

probably benign
Transcript: ENSMUST00000003079

SMART Domains

Protein: ENSMUSP00000003079
Gene: ENSMUSG00000002997

Domain	Start	End	E-Value	Type
RIIa	7	44	7.78e-17	SMART
low complexity region	61	68	N/A	INTRINSIC
low complexity region	86	101	N/A	INTRINSIC
cNMP	152	272	7.2e-26	SMART
cNMP	274	398	8.53e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000036497

SMART Domains

Protein: ENSMUSP00000039797
Gene: ENSMUSG00000002997

Domain	Start	End	E-Value	Type
RIIa	7	44	7.78e-17	SMART
low complexity region	61	68	N/A	INTRINSIC
low complexity region	86	101	N/A	INTRINSIC
cNMP	152	272	7.2e-26	SMART
cNMP	274	398	8.53e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000146865

SMART Domains

Protein: ENSMUSP00000135290
Gene: ENSMUSG00000002997

Domain	Start	End	E-Value	Type
cNMP	1	112	1.33e-15	SMART
cNMP	114	238	8.53e-28	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.4%

Validation Efficiency

100% (95/95)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. The protein encoded by this gene is one of the regulatory subunits. This subunit can be phosphorylated by the activated catalytic subunit. This subunit has been shown to interact with and suppress the transcriptional activity of the cAMP responsive element binding protein 1 (CREB1) in activated T cells. Knockout studies in mice suggest that this subunit may play an important role in regulating energy balance and adiposity. The studies also suggest that this subunit may mediate the gene induction and cataleptic behavior induced by haloperidol. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygou null mice are lean, weigh less than controls, and have reduced white fat pad size. Mice are resistant to both diet-induced obesity and to diet-induced insulin resistance. Mice show impaired coordination and increased sensitivity to chronic amphetamine exposure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700037C18Rik	A	G	16: 3,725,511 (GRCm39)	V5A	probably damaging	Het
Abi3bp	A	G	16: 56,424,375 (GRCm39)		probably null	Het
Acot11	G	A	4: 106,619,224 (GRCm39)	R184C	probably damaging	Het
Adgre5	A	T	8: 84,458,627 (GRCm39)	I133N	probably damaging	Het
Afap1	A	T	5: 36,108,347 (GRCm39)	Q231L	probably damaging	Het
Alg12	T	C	15: 88,695,630 (GRCm39)	T289A	probably benign	Het
Ank3	T	A	10: 69,718,374 (GRCm39)	S542T	possibly damaging	Het
Ankmy2	G	A	12: 36,232,389 (GRCm39)	R138Q	possibly damaging	Het
Ascc2	C	T	11: 4,622,302 (GRCm39)	A456V	probably benign	Het
Atg4c	G	A	4: 99,112,719 (GRCm39)	V289I	probably benign	Het
Bbs7	A	T	3: 36,657,022 (GRCm39)	Y269N	probably damaging	Het
Bcas3	T	A	11: 85,386,676 (GRCm39)	D370E	probably damaging	Het
Bicc1	T	G	10: 70,761,145 (GRCm39)	E955A	probably damaging	Het
Bok	T	C	1: 93,616,999 (GRCm39)	F115S	probably damaging	Het
Caap1	A	T	4: 94,438,758 (GRCm39)		probably null	Het
Cacna2d3	T	A	14: 29,256,476 (GRCm39)	M95L	possibly damaging	Het
Calcrl	T	A	2: 84,200,435 (GRCm39)	D115V	probably benign	Het
Car7	A	T	8: 105,270,170 (GRCm39)	M57L	probably benign	Het
Casq1	G	T	1: 172,037,957 (GRCm39)		probably benign	Het
Cep290	A	T	10: 100,385,206 (GRCm39)	D1894V	possibly damaging	Het
Clec4a2	T	A	6: 123,100,588 (GRCm39)	N14K	probably damaging	Het
Col16a1	G	T	4: 129,984,290 (GRCm39)		probably benign	Het
Col5a1	T	C	2: 27,880,109 (GRCm39)		probably benign	Het
Col5a2	A	T	1: 45,417,642 (GRCm39)	I1311N	probably damaging	Het
Col5a3	T	C	9: 20,694,004 (GRCm39)	T1050A	probably damaging	Het
Colgalt2	A	T	1: 152,360,622 (GRCm39)	I220F	probably damaging	Het
Cpb1	A	T	3: 20,329,792 (GRCm39)	V8E	unknown	Het
Dchs1	C	T	7: 105,421,934 (GRCm39)	R162H	probably benign	Het
Dhx37	A	G	5: 125,499,295 (GRCm39)	Y638H	probably benign	Het
Dhx40	T	G	11: 86,662,088 (GRCm39)		probably benign	Het
Ehd2	T	A	7: 15,686,001 (GRCm39)	Q357L	probably benign	Het
Ewsr1	T	C	11: 5,020,737 (GRCm39)		probably benign	Het
Fcho1	C	T	8: 72,165,204 (GRCm39)	A418T	probably benign	Het
Gid8	T	A	2: 180,355,004 (GRCm39)	Y3*	probably null	Het
Gm10212	A	C	19: 11,548,174 (GRCm39)		noncoding transcript	Het
Grin3b	T	A	10: 79,809,890 (GRCm39)	N465K	possibly damaging	Het
H1f3	A	T	13: 23,739,924 (GRCm39)	K221*	probably null	Het
Htr4	A	T	18: 62,561,225 (GRCm39)	N162I	probably damaging	Het
Irag2	T	C	6: 145,110,938 (GRCm39)	C248R	probably damaging	Het
Itga3	T	C	11: 94,952,796 (GRCm39)	D325G	probably benign	Het
Itpr3	T	G	17: 27,330,903 (GRCm39)	V1737G	probably damaging	Het
Kcnab2	C	T	4: 152,479,439 (GRCm39)	V251I	probably benign	Het
Kcnn2	A	T	18: 45,693,215 (GRCm39)	I264L	probably benign	Het
Klhl41	T	C	2: 69,501,600 (GRCm39)	Y354H	probably damaging	Het
Klra6	T	C	6: 130,000,601 (GRCm39)	I68V	probably benign	Het
Letm2	G	T	8: 26,082,574 (GRCm39)	P178Q	probably damaging	Het
Lypd11	C	A	7: 24,422,170 (GRCm39)	C193F	possibly damaging	Het
Mbtps1	A	T	8: 120,249,340 (GRCm39)		probably benign	Het
Mecom	C	T	3: 30,035,121 (GRCm39)		probably benign	Het
Mrps5	T	A	2: 127,433,745 (GRCm39)	S45T	possibly damaging	Het
Msra	T	A	14: 64,678,210 (GRCm39)	I29F	possibly damaging	Het
Mup5	T	C	4: 61,751,229 (GRCm39)		probably null	Het
Myo1a	T	C	10: 127,555,111 (GRCm39)		probably benign	Het
Myrip	C	A	9: 120,270,443 (GRCm39)	N564K	probably benign	Het
Naa20	T	A	2: 145,757,592 (GRCm39)	D148E	probably damaging	Het
Naga	T	G	15: 82,220,956 (GRCm39)		probably benign	Het
Npc1	A	G	18: 12,346,503 (GRCm39)	V231A	probably benign	Het
Nphs1	T	C	7: 30,166,940 (GRCm39)	F716L	probably benign	Het
Or8s5	T	C	15: 98,238,810 (GRCm39)	H20R	probably benign	Het
Parn	G	C	16: 13,472,299 (GRCm39)		probably benign	Het
Polk	A	T	13: 96,620,272 (GRCm39)	C664S	probably benign	Het
Prkdc	A	G	16: 15,651,604 (GRCm39)	E3747G	probably damaging	Het
Prmt5	A	T	14: 54,748,712 (GRCm39)	M362K	probably damaging	Het
Prob1	T	C	18: 35,786,878 (GRCm39)	T459A	possibly damaging	Het
Rttn	C	T	18: 89,108,543 (GRCm39)		probably benign	Het
Scn1a	T	C	2: 66,104,269 (GRCm39)	M1664V	probably damaging	Het
Sez6	T	A	11: 77,844,639 (GRCm39)	L154H	probably damaging	Het
Sh3tc1	A	G	5: 35,859,356 (GRCm39)		probably benign	Het
Shkbp1	C	T	7: 27,048,006 (GRCm39)	G334D	probably damaging	Het
Slc8a1	A	T	17: 81,955,422 (GRCm39)	F539I	probably damaging	Het
Spata31e5	G	T	1: 28,817,223 (GRCm39)	Q270K	probably damaging	Het
Sptan1	T	C	2: 29,903,860 (GRCm39)		probably benign	Het
Ssc5d	C	T	7: 4,940,470 (GRCm39)	T861M	probably damaging	Het
Tbx5	A	T	5: 120,021,523 (GRCm39)	M510L	probably benign	Het
Tdp1	A	G	12: 99,876,101 (GRCm39)	T351A	probably benign	Het
Tmc8	T	A	11: 117,682,904 (GRCm39)		probably benign	Het
Tmco5	T	A	2: 116,720,588 (GRCm39)	D205E	probably benign	Het
Tmprss2	T	C	16: 97,373,194 (GRCm39)		probably benign	Het
Top6bl	A	T	19: 4,708,442 (GRCm39)	I350N	probably damaging	Het
Tph1	T	A	7: 46,299,448 (GRCm39)	K364N	probably benign	Het
Trim24	T	C	6: 37,934,001 (GRCm39)	L648P	probably damaging	Het
Trmt6	C	A	2: 132,650,950 (GRCm39)		probably benign	Het
Ube2i	A	T	17: 25,488,259 (GRCm39)		probably benign	Het
Vcan	A	C	13: 89,852,779 (GRCm39)	L727R	possibly damaging	Het
Vmn2r28	T	C	7: 5,491,689 (GRCm39)	Y186C	probably damaging	Het
Wars1	C	A	12: 108,841,083 (GRCm39)	D232Y	probably damaging	Het
Xrcc5	T	C	1: 72,378,104 (GRCm39)		probably benign	Het
Zbtb24	T	A	10: 41,340,532 (GRCm39)	S543T	probably damaging	Het
Zfp91	A	G	19: 12,753,353 (GRCm39)		probably benign	Het

Other mutations in Prkar2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01549:Prkar2b	APN	12	32,111,071 (GRCm39)	missense	possibly damaging	0.55
IGL02056:Prkar2b	APN	12	32,025,909 (GRCm39)	splice site	probably benign
IGL02071:Prkar2b	APN	12	32,013,016 (GRCm39)	missense	probably damaging	1.00
IGL02118:Prkar2b	APN	12	32,025,963 (GRCm39)	missense	probably damaging	1.00
spark	UTSW	12	32,037,973 (GRCm39)	splice site	probably null
R0211:Prkar2b	UTSW	12	32,022,183 (GRCm39)	missense	probably benign	0.30
R0362:Prkar2b	UTSW	12	32,037,973 (GRCm39)	splice site	probably null
R0898:Prkar2b	UTSW	12	32,013,001 (GRCm39)	missense	possibly damaging	0.90
R1426:Prkar2b	UTSW	12	32,012,987 (GRCm39)	splice site	probably benign
R1997:Prkar2b	UTSW	12	32,013,934 (GRCm39)	missense	probably damaging	0.99
R2114:Prkar2b	UTSW	12	32,017,279 (GRCm39)	missense	probably damaging	1.00
R2346:Prkar2b	UTSW	12	32,022,149 (GRCm39)	missense	probably benign	0.01
R2513:Prkar2b	UTSW	12	32,025,928 (GRCm39)	missense	possibly damaging	0.93
R3875:Prkar2b	UTSW	12	32,015,122 (GRCm39)	missense	probably benign	0.01
R5301:Prkar2b	UTSW	12	32,025,927 (GRCm39)	missense	probably damaging	1.00
R5316:Prkar2b	UTSW	12	32,110,984 (GRCm39)	missense	probably damaging	0.97
R5351:Prkar2b	UTSW	12	32,022,126 (GRCm39)	missense	probably damaging	1.00
R6025:Prkar2b	UTSW	12	32,110,855 (GRCm39)	missense	possibly damaging	0.68
R6028:Prkar2b	UTSW	12	32,043,757 (GRCm39)	missense	possibly damaging	0.50
R6563:Prkar2b	UTSW	12	32,043,785 (GRCm39)	splice site	probably null
R7074:Prkar2b	UTSW	12	32,022,147 (GRCm39)	missense	probably damaging	1.00
R7431:Prkar2b	UTSW	12	32,013,150 (GRCm39)	splice site	probably null
R7747:Prkar2b	UTSW	12	32,110,937 (GRCm39)	missense	probably benign	0.23
R7978:Prkar2b	UTSW	12	32,013,024 (GRCm39)	missense	possibly damaging	0.81
R8926:Prkar2b	UTSW	12	32,111,080 (GRCm39)	start codon destroyed	probably null	0.99
R9102:Prkar2b	UTSW	12	32,013,025 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGCAACTGCTAGGGTTTTACACAGG -3'
(R):5'- ACCAGGTGTTTAGGGAACTGCCTC -3'

Sequencing Primer
(F):5'- cccctgacccatctctcc -3'
(R):5'- GCCTCCCTAGTTCTAGCGATAAATAG -3'

Posted On

2013-05-23