Mutagenetix > Incidental Mutation

Incidental Mutation 'R0211:Prkar2b'

35556

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

038462-MU

Accession Numbers

Essential gene?

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

Stock #

R0211 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32008475-32111295 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 32022183 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 201 (V201L)

Ref Sequence

ENSEMBL: ENSMUSP00000039797 (fasta)

Gene Model

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

AlphaFold

P31324

Predicted Effect

probably benign
Transcript: ENSMUST00000003079
AA Change: V201L

PolyPhen 2 Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000003079
Gene: ENSMUSG00000002997
AA Change: V201L

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
AA Change: V201L

PolyPhen 2 Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000039797
Gene: ENSMUSG00000002997
AA Change: V201L

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
AA Change: V41L

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000135290
Gene: ENSMUSG00000002997
AA Change: V41L

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

Coding Region Coverage

1x: 98.2%
3x: 97.0%
10x: 94.6%
20x: 89.0%

Validation Efficiency

100% (1/1)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,262,870 (GRCm39)	L1401P	possibly damaging	Het
4930503B20Rik	C	T	3: 146,356,251 (GRCm39)	R219H	probably benign	Het
Abcc9	T	A	6: 142,634,710 (GRCm39)	I185F	probably benign	Het
Adgrf1	T	C	17: 43,607,581 (GRCm39)	L100P	probably damaging	Het
Akt1	T	C	12: 112,621,576 (GRCm39)	T407A	probably damaging	Het
Alk	C	T	17: 72,910,511 (GRCm39)	R65H	probably damaging	Het
Aplp2	T	C	9: 31,069,086 (GRCm39)	E525G	probably damaging	Het
Arhgef12	G	A	9: 42,883,300 (GRCm39)	R1411C	probably damaging	Het
Arnt	T	A	3: 95,383,460 (GRCm39)	M242K	probably damaging	Het
Atad5	T	G	11: 79,986,473 (GRCm39)	V520G	probably benign	Het
Avpr1a	T	A	10: 122,285,374 (GRCm39)	M222K	possibly damaging	Het
Cbr2	T	A	11: 120,621,614 (GRCm39)	I88L	probably benign	Het
Cc2d2a	T	A	5: 43,845,608 (GRCm39)		probably null	Het
Ccdc51	T	C	9: 108,918,441 (GRCm39)	M10T	probably benign	Het
Cntnap5b	T	A	1: 100,406,099 (GRCm39)	D1136E	possibly damaging	Het
Coil	T	A	11: 88,872,979 (GRCm39)	S447T	probably damaging	Het
Cryba1	T	A	11: 77,609,693 (GRCm39)	Y179F	probably damaging	Het
Dcaf4	T	A	12: 83,582,735 (GRCm39)	F277I	probably damaging	Het
Ddost	G	A	4: 138,036,913 (GRCm39)	V159M	probably damaging	Het
Dnaaf4	A	T	9: 72,868,649 (GRCm39)	R127S	possibly damaging	Het
Dnajb6	T	C	5: 29,990,077 (GRCm39)		probably benign	Het
Dnase2a	A	G	8: 85,635,417 (GRCm39)		probably benign	Het
Dscam	T	C	16: 96,517,279 (GRCm39)	I877V	possibly damaging	Het
Efcc1	A	T	6: 87,726,136 (GRCm39)	T312S	probably benign	Het
Elp1	T	A	4: 56,795,545 (GRCm39)	I143F	probably damaging	Het
Ermard	A	T	17: 15,242,205 (GRCm39)	Q127L	probably damaging	Het
F2	T	C	2: 91,460,503 (GRCm39)	E329G	probably damaging	Het
Foxc2	T	A	8: 121,843,355 (GRCm39)	M1K	probably null	Het
Fuz	T	A	7: 44,548,446 (GRCm39)		probably null	Het
Ggnbp2	G	A	11: 84,731,139 (GRCm39)	T325M	probably damaging	Het
Gm6408	T	A	5: 146,419,870 (GRCm39)	F115I	probably benign	Het
Gp6	C	T	7: 4,376,208 (GRCm39)		probably null	Het
Grin2a	A	G	16: 9,397,037 (GRCm39)	S1017P	possibly damaging	Het
H2-T5	T	C	17: 36,478,899 (GRCm39)	T117A	probably damaging	Het
Hmmr	A	T	11: 40,605,635 (GRCm39)	M318K	probably damaging	Het
Ifi205	T	C	1: 173,855,994 (GRCm39)	E12G	probably benign	Het
Ift74	C	T	4: 94,567,492 (GRCm39)	T395I	probably benign	Het
Irf8	A	T	8: 121,466,714 (GRCm39)	D53V	probably damaging	Het
Itgad	A	G	7: 127,803,813 (GRCm39)	Y69C	probably damaging	Het
Itpr2	C	A	6: 146,096,111 (GRCm39)	R2084L	probably benign	Het
Krt4	C	A	15: 101,831,217 (GRCm39)	S228I	possibly damaging	Het
Lpin3	A	T	2: 160,740,601 (GRCm39)	D382V	probably damaging	Het
Ltbp3	T	C	19: 5,802,171 (GRCm39)		probably null	Het
Map4k3	C	T	17: 80,952,270 (GRCm39)	A179T	probably damaging	Het
Nck1	A	T	9: 100,379,820 (GRCm39)	W144R	probably damaging	Het
Ndufb9	A	T	15: 58,811,131 (GRCm39)	Q139L	possibly damaging	Het
Ngfr	T	G	11: 95,462,738 (GRCm39)	E300A	probably damaging	Het
Nin	T	G	12: 70,061,649 (GRCm39)	T2072P	probably damaging	Het
Nop2	T	G	6: 125,118,307 (GRCm39)	L529R	probably damaging	Het
Nrm	T	A	17: 36,175,503 (GRCm39)	L203Q	probably damaging	Het
Nynrin	T	C	14: 56,109,255 (GRCm39)	F1454S	probably benign	Het
Or10ak7	T	A	4: 118,791,467 (GRCm39)	M191L	probably benign	Het
Or5b101	T	C	19: 13,005,646 (GRCm39)	T16A	possibly damaging	Het
Or8j3c	A	C	2: 86,253,451 (GRCm39)	S190A	probably damaging	Het
Os9	A	G	10: 126,956,905 (GRCm39)	V27A	probably damaging	Het
Osbpl9	T	G	4: 108,930,321 (GRCm39)	T332P	probably damaging	Het
Pcdhb10	A	T	18: 37,547,059 (GRCm39)	M712L	probably benign	Het
Pcx	C	T	19: 4,670,227 (GRCm39)	A935V	probably damaging	Het
Pdzd7	A	G	19: 45,022,106 (GRCm39)	V514A	possibly damaging	Het
Plin4	C	T	17: 56,409,242 (GRCm39)	G1326D	probably damaging	Het
Plxnb1	T	A	9: 108,932,731 (GRCm39)	Y568*	probably null	Het
Pmfbp1	T	A	8: 110,268,372 (GRCm39)	V973D	probably benign	Het
Ppp2r1b	T	C	9: 50,772,925 (GRCm39)	V70A	probably benign	Het
Rgr	T	G	14: 36,768,925 (GRCm39)	T37P	probably damaging	Het
Ripk3	A	T	14: 56,025,375 (GRCm39)	L63Q	probably damaging	Het
Rpusd2	A	G	2: 118,868,893 (GRCm39)	S439G	probably benign	Het
Serac1	T	A	17: 6,100,335 (GRCm39)	R438S	possibly damaging	Het
Slc19a1	T	A	10: 76,874,300 (GRCm39)	S24T	possibly damaging	Het
Slc6a21	A	C	7: 44,937,667 (GRCm39)	T653P	possibly damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spdef	C	T	17: 27,933,894 (GRCm39)	R309H	probably damaging	Het
Srp68	A	T	11: 116,156,377 (GRCm39)	Y84N	probably damaging	Het
Syne2	A	T	12: 76,144,731 (GRCm39)	Q6299L	probably damaging	Het
Tmem63b	T	A	17: 45,972,839 (GRCm39)	M652L	probably benign	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Tnk1	A	G	11: 69,746,007 (GRCm39)	V306A	probably damaging	Het
Tnnc2	T	A	2: 164,619,404 (GRCm39)	I147F	probably damaging	Het
Tnni3k	C	T	3: 154,760,981 (GRCm39)		probably benign	Het
Togaram2	T	A	17: 72,036,243 (GRCm39)	V911D	probably damaging	Het
Tyw3	T	C	3: 154,293,132 (GRCm39)	N181S	probably damaging	Het
Unc79	T	A	12: 103,039,051 (GRCm39)	S682T	probably benign	Het
Vps13d	A	G	4: 144,841,348 (GRCm39)	L2634S	probably benign	Het
Wasl	G	T	6: 24,633,892 (GRCm39)	A124E	probably damaging	Het
Zfp287	T	C	11: 62,605,743 (GRCm39)	H388R	probably damaging	Het
Zfp335	T	C	2: 164,749,612 (GRCm39)	T262A	probably damaging	Het
Zfp457	C	G	13: 67,441,211 (GRCm39)	G359R	probably benign	Het
Zfp536	T	A	7: 37,267,874 (GRCm39)	E514V	probably damaging	Het
Zfp872	T	A	9: 22,111,469 (GRCm39)	I316N	probably damaging	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
R0362:Prkar2b	UTSW	12	32,037,973 (GRCm39)	splice site	probably null
R0485:Prkar2b	UTSW	12	32,026,034 (GRCm39)	splice site	probably benign
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'- ACGAATGCCAATGACTTGTGATCCC -3'
(R):5'- GGTCTGGAACAGATGAGCACACAC -3'

Sequencing Primer
(F):5'- TGACTTGTGATCCCAAATAAAACC -3'
(R):5'- CACTGTTATCATCAGGGATAGGC -3'

Posted On

2013-05-09