Mutagenetix > Incidental Mutation

Incidental Mutation 'R1513:Prkar2a'

168543

Institutional Source

Beutler Lab

Gene Symbol

Prkar2a

Ensembl Gene

ENSMUSG00000032601

Gene Name

protein kinase, cAMP dependent regulatory, type II alpha

Synonyms

1110061A24Rik, RII(alpha)

MMRRC Submission

039560-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1513 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108569342-108627643 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 108605469 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 176 (V176I)

Ref Sequence

ENSEMBL: ENSMUSP00000141869 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035220] [ENSMUST00000192344] [ENSMUST00000195405]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000035220
AA Change: V176I

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000035220
Gene: ENSMUSG00000032601
AA Change: V176I

Domain	Start	End	E-Value	Type
RIIa	8	45	7.15e-16	SMART
low complexity region	70	85	N/A	INTRINSIC
low complexity region	104	114	N/A	INTRINSIC
cNMP	137	257	2.27e-23	SMART
cNMP	259	384	2.02e-29	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000192068
AA Change: V75I

Predicted Effect

probably benign
Transcript: ENSMUST00000192344

Predicted Effect

possibly damaging
Transcript: ENSMUST00000195405
AA Change: V176I

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000141869
Gene: ENSMUSG00000032601
AA Change: V176I

Domain	Start	End	E-Value	Type
RIIa	8	45	4.3e-18	SMART
low complexity region	70	85	N/A	INTRINSIC
low complexity region	104	114	N/A	INTRINSIC
cNMP	137	257	1.1e-25	SMART
cNMP	259	362	3.9e-12	SMART

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.7%
20x: 87.2%

Validation Efficiency

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. It may interact with various A-kinase anchoring proteins and determine the subcellular localization of cAMP-dependent protein kinase. This subunit has been shown to regulate protein transport from endosomes to the Golgi apparatus and further to the endoplasmic reticulum (ER). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are viable and appear healthy. They have normal growth and no deficits in locomotor activity, muscle strength, or exploratory behavior. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500011B03Rik	A	T	5: 114,947,334 (GRCm39)	C64*	probably null	Het
1700003H04Rik	A	C	3: 124,368,985 (GRCm39)	Y109D	possibly damaging	Het
Abca15	A	T	7: 119,939,322 (GRCm39)	I239F	probably damaging	Het
Adgrv1	A	G	13: 81,741,167 (GRCm39)	V99A	probably damaging	Het
Adgrv1	A	T	13: 81,705,076 (GRCm39)	I1578K	probably damaging	Het
Ap4e1	G	T	2: 126,903,475 (GRCm39)	K792N	probably null	Het
Ap5b1	G	A	19: 5,619,892 (GRCm39)	W437*	probably null	Het
Arhgef17	A	G	7: 100,580,069 (GRCm39)	L293P	probably benign	Het
Arhgef33	A	C	17: 80,678,818 (GRCm39)	M505L	probably benign	Het
Arih1	T	A	9: 59,310,663 (GRCm39)	R320S	probably damaging	Het
Atp1b3	A	T	9: 96,246,206 (GRCm39)	M1K	probably null	Het
Bbs2	T	C	8: 94,816,472 (GRCm39)	D130G	possibly damaging	Het
Bscl2	G	A	19: 8,818,509 (GRCm39)	R38H	probably damaging	Het
Cad	A	G	5: 31,226,106 (GRCm39)	Y1102C	probably damaging	Het
Cc2d1b	G	A	4: 108,490,423 (GRCm39)	R825Q	probably damaging	Het
Ccdc39	A	G	3: 33,893,294 (GRCm39)	V97A	possibly damaging	Het
Ccr1	T	C	9: 123,764,510 (GRCm39)	T7A	probably benign	Het
Cd33	A	G	7: 43,181,618 (GRCm39)	S181P	probably damaging	Het
Cdc20	A	C	4: 118,290,304 (GRCm39)	S452R	probably damaging	Het
Cdk8	A	T	5: 146,233,188 (GRCm39)	I229F	possibly damaging	Het
Ces3a	A	T	8: 105,776,909 (GRCm39)	N131Y	probably damaging	Het
Cgnl1	A	G	9: 71,631,872 (GRCm39)	I493T	probably benign	Het
Chia1	G	A	3: 106,039,220 (GRCm39)	V437M	probably benign	Het
Chrna2	G	A	14: 66,380,878 (GRCm39)	R49H	probably benign	Het
Clec12b	A	G	6: 129,353,265 (GRCm39)	C241R	probably damaging	Het
Col11a1	A	G	3: 113,890,803 (GRCm39)	D380G	unknown	Het
Crebbp	A	G	16: 3,933,749 (GRCm39)	S948P	probably damaging	Het
Dchs1	G	A	7: 105,421,278 (GRCm39)	R381*	probably null	Het
Defb19	A	T	2: 152,418,085 (GRCm39)	*84R	probably null	Het
Dnah8	T	C	17: 30,892,862 (GRCm39)	F816L	probably benign	Het
Dync2h1	T	A	9: 7,103,663 (GRCm39)	I371F	possibly damaging	Het
Ezhip	GTCATCATCATCATC	GTCATCATCATCATCATC	X: 5,994,645 (GRCm39)		probably benign	Het
Fggy	T	C	4: 95,790,295 (GRCm39)		probably benign	Het
Galnt12	G	A	4: 47,117,956 (GRCm39)	C125Y	probably damaging	Het
Gm4952	A	T	19: 12,602,039 (GRCm39)	D149V	probably damaging	Het
Gm6309	A	T	5: 146,107,393 (GRCm39)	H37Q	possibly damaging	Het
Gmnn	A	G	13: 24,940,615 (GRCm39)	L78P	possibly damaging	Het
Golga4	C	A	9: 118,384,800 (GRCm39)	Q613K	probably benign	Het
Iqgap2	A	T	13: 95,766,518 (GRCm39)	I1495K	probably damaging	Het
Junb	T	C	8: 85,704,758 (GRCm39)	T101A	probably damaging	Het
Kif21b	T	C	1: 136,083,849 (GRCm39)	Y699H	probably damaging	Het
Klf17	T	C	4: 117,618,132 (GRCm39)	E75G	probably damaging	Het
Klra17	T	C	6: 129,849,277 (GRCm39)	E99G	possibly damaging	Het
Knop1	CTCTTCTTCTTCTTCTTCTTCTTC	CTCTTCTTCTTCTTCTTCTTC	7: 118,451,672 (GRCm39)		probably benign	Het
Krt87	C	T	15: 101,387,538 (GRCm39)	V167M	probably benign	Het
Lce1m	A	G	3: 92,925,932 (GRCm39)		probably benign	Het
Lpin3	A	T	2: 160,746,468 (GRCm39)	Y709F	probably damaging	Het
Ltbp2	T	A	12: 84,838,718 (GRCm39)	D1080V	probably damaging	Het
Mycbp2	G	A	14: 103,441,825 (GRCm39)	T1980I	probably damaging	Het
Myo1g	T	A	11: 6,465,140 (GRCm39)	K435M	probably damaging	Het
Mypn	T	A	10: 63,005,147 (GRCm39)	N320I	probably damaging	Het
Naip5	A	T	13: 100,358,714 (GRCm39)	W841R	probably benign	Het
Ncapd2	A	T	6: 125,147,955 (GRCm39)	M1124K	probably damaging	Het
Ncf4	A	G	15: 78,146,560 (GRCm39)	D330G	probably benign	Het
Ndst3	C	T	3: 123,395,104 (GRCm39)	V509M	possibly damaging	Het
Neb	A	T	2: 52,117,256 (GRCm39)	D4105E	probably damaging	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Nsrp1	A	T	11: 76,937,445 (GRCm39)	F250L	probably benign	Het
Or11g7	A	G	14: 50,691,138 (GRCm39)	I210V	probably benign	Het
Or4l15	T	C	14: 50,198,558 (GRCm39)		probably null	Het
Or52d1	C	T	7: 103,755,671 (GRCm39)	L62F	probably benign	Het
Or52k2	G	T	7: 102,254,509 (GRCm39)	G316V	probably benign	Het
Or5m12	A	T	2: 85,735,015 (GRCm39)	Y128N	probably damaging	Het
Or8k3b	C	T	2: 86,521,141 (GRCm39)	M59I	possibly damaging	Het
Oxr1	A	G	15: 41,660,870 (GRCm39)	D67G	probably damaging	Het
P2ry12	A	T	3: 59,125,498 (GRCm39)	I59N	probably damaging	Het
Pcdhb12	G	T	18: 37,570,111 (GRCm39)	G419V	probably damaging	Het
Pdzd2	G	T	15: 12,373,915 (GRCm39)	S2073R	possibly damaging	Het
Pex5l	C	A	3: 33,069,162 (GRCm39)	E112*	probably null	Het
Plaur	A	G	7: 24,172,016 (GRCm39)	D163G	probably benign	Het
Plk2	A	G	13: 110,536,622 (GRCm39)	Y638C	probably benign	Het
Ppp1r15b	A	G	1: 133,061,088 (GRCm39)	N535S	probably benign	Het
Ppp2r1b	T	C	9: 50,781,445 (GRCm39)	L21P	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rag1	A	G	2: 101,473,336 (GRCm39)	M602T	possibly damaging	Het
Rb1	A	G	14: 73,559,524 (GRCm39)	V60A	probably benign	Het
Rgs20	T	A	1: 4,982,560 (GRCm39)	I303F	probably damaging	Het
Rnf43	T	A	11: 87,620,257 (GRCm39)	I240N	probably damaging	Het
Romo1	G	A	2: 155,986,433 (GRCm39)	V19M	probably benign	Het
Ryr1	A	G	7: 28,770,046 (GRCm39)	S2676P	probably damaging	Het
Ryr3	G	A	2: 112,539,542 (GRCm39)	Q3233*	probably null	Het
Skic2	G	T	17: 35,066,420 (GRCm39)	P188T	probably damaging	Het
Slc26a6	A	G	9: 108,733,035 (GRCm39)	R5G	probably benign	Het
Slc33a1	A	G	3: 63,871,376 (GRCm39)	L79P	probably damaging	Het
Snx31	G	A	15: 36,545,745 (GRCm39)	R91C	probably damaging	Het
Tecpr2	T	C	12: 110,921,234 (GRCm39)	I1269T	possibly damaging	Het
Tjap1	G	T	17: 46,572,368 (GRCm39)	D89E	probably benign	Het
Tmem53	A	T	4: 117,123,090 (GRCm39)	Q39L	probably damaging	Het
Tmod1	G	T	4: 46,083,549 (GRCm39)	V95F	possibly damaging	Het
Trim30c	A	C	7: 104,031,896 (GRCm39)	H306Q	probably benign	Het
Trpm3	A	T	19: 22,964,236 (GRCm39)	M1244L	possibly damaging	Het
Tspan32	A	G	7: 142,558,886 (GRCm39)	I14V	probably null	Het
Ube4b	A	G	4: 149,436,035 (GRCm39)	V695A	probably benign	Het
Ubxn11	G	A	4: 133,851,452 (GRCm39)		probably null	Het
Ugt3a1	A	G	15: 9,361,610 (GRCm39)	I129V	probably benign	Het
Vmn1r45	A	G	6: 89,910,058 (GRCm39)	V304A	probably damaging	Het
Vmn2r124	A	T	17: 18,283,535 (GRCm39)	S410C	probably damaging	Het
Vmn2r15	T	A	5: 109,441,195 (GRCm39)	D221V	probably damaging	Het
Vmn2r79	G	A	7: 86,686,652 (GRCm39)	V678I	probably benign	Het
Vps13b	A	T	15: 35,438,876 (GRCm39)	R319*	probably null	Het
Wdr95	G	A	5: 149,522,759 (GRCm39)	R639Q	probably benign	Het
Xirp2	A	G	2: 67,341,874 (GRCm39)	I1372V	probably benign	Het
Xpo5	T	A	17: 46,537,906 (GRCm39)	M611K	probably benign	Het
Zfat	A	G	15: 68,084,529 (GRCm39)	C121R	probably damaging	Het
Zfp382	A	T	7: 29,832,721 (GRCm39)	Y124F	probably benign	Het
Zfp512b	A	G	2: 181,230,982 (GRCm39)	F371S	probably benign	Het
Zfy2	A	G	Y: 2,116,185 (GRCm39)	V285A	probably benign	Het

Other mutations in Prkar2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02064:Prkar2a	APN	9	108,610,403 (GRCm39)	missense	possibly damaging	0.92
IGL02073:Prkar2a	APN	9	108,610,322 (GRCm39)	missense	probably damaging	0.99
IGL02117:Prkar2a	APN	9	108,596,460 (GRCm39)	missense	probably damaging	1.00
IGL02268:Prkar2a	APN	9	108,624,152 (GRCm39)	missense	probably benign	0.04
IGL02635:Prkar2a	APN	9	108,605,476 (GRCm39)	missense	probably damaging	0.99
IGL03006:Prkar2a	APN	9	108,617,640 (GRCm39)	missense	probably benign
PIT4486001:Prkar2a	UTSW	9	108,610,326 (GRCm39)	missense	probably damaging	1.00
R0335:Prkar2a	UTSW	9	108,596,457 (GRCm39)	missense	probably damaging	1.00
R0920:Prkar2a	UTSW	9	108,596,496 (GRCm39)	splice site	probably benign
R0943:Prkar2a	UTSW	9	108,610,475 (GRCm39)	splice site	probably benign
R2178:Prkar2a	UTSW	9	108,617,737 (GRCm39)	critical splice donor site	probably null
R3820:Prkar2a	UTSW	9	108,624,155 (GRCm39)	missense	probably damaging	1.00
R3842:Prkar2a	UTSW	9	108,605,467 (GRCm39)	missense	probably damaging	1.00
R4807:Prkar2a	UTSW	9	108,617,584 (GRCm39)	intron	probably benign
R4886:Prkar2a	UTSW	9	108,622,823 (GRCm39)	critical splice donor site	probably null
R5051:Prkar2a	UTSW	9	108,622,690 (GRCm39)	missense	probably benign	0.00
R5435:Prkar2a	UTSW	9	108,617,682 (GRCm39)	missense	probably damaging	1.00
R6979:Prkar2a	UTSW	9	108,610,342 (GRCm39)	missense	possibly damaging	0.76
R7121:Prkar2a	UTSW	9	108,569,821 (GRCm39)	missense	probably benign
R7199:Prkar2a	UTSW	9	108,617,669 (GRCm39)	missense	probably damaging	1.00
R7819:Prkar2a	UTSW	9	108,622,744 (GRCm39)	missense	probably damaging	1.00
R8194:Prkar2a	UTSW	9	108,569,710 (GRCm39)	missense	probably damaging	1.00
R8218:Prkar2a	UTSW	9	108,596,448 (GRCm39)	missense	possibly damaging	0.83
R8253:Prkar2a	UTSW	9	108,617,638 (GRCm39)	missense	probably damaging	1.00
X0060:Prkar2a	UTSW	9	108,622,781 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTGGCAGGCCAGACTCAAGAGAC -3'
(R):5'- AGAGGCAGCTATAATCAACCCCTCG -3'

Sequencing Primer
(F):5'- acagagcaagtttcaggacag -3'
(R):5'- GCTATAATCAACCCCTCGAAAGG -3'

Posted On

2014-04-13