Mutagenetix > Incidental Mutation

Incidental Mutation 'R7121:Prkar2a'

552018

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

045210-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7121 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108569342-108627643 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108569821 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 56 (T56A)

Ref Sequence

ENSEMBL: ENSMUSP00000035220 (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: T56A

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

SMART Domains

Protein: ENSMUSP00000035220
Gene: ENSMUSG00000032601
AA Change: T56A

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

probably benign
Transcript: ENSMUST00000192344

Predicted Effect

probably benign
Transcript: ENSMUST00000195405
AA Change: T56A

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

SMART Domains

Protein: ENSMUSP00000141869
Gene: ENSMUSG00000032601
AA Change: T56A

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (71/72)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933411K16Rik	C	T	19: 42,041,112 (GRCm39)	A81V	probably benign	Het
Abcc9	A	T	6: 142,634,853 (GRCm39)	L137*	probably null	Het
Akap10	A	G	11: 61,777,524 (GRCm39)		probably null	Het
Alms1	T	A	6: 85,601,604 (GRCm39)	Y1683N	probably damaging	Het
Atl1	A	G	12: 69,978,408 (GRCm39)	S127G	probably damaging	Het
Cadm1	G	A	9: 47,710,708 (GRCm39)	V204M	probably damaging	Het
Cbr3	T	A	16: 93,487,438 (GRCm39)	I207N	probably damaging	Het
Ccdc148	A	T	2: 58,717,579 (GRCm39)	Y475N	probably damaging	Het
Ccdc33	A	T	9: 57,988,167 (GRCm39)	S144T	probably benign	Het
Ceacam5	C	A	7: 17,479,462 (GRCm39)	A193E	probably benign	Het
Chd2	T	C	7: 73,119,418 (GRCm39)	D1042G	probably benign	Het
Chmp5	A	T	4: 40,952,217 (GRCm39)		probably null	Het
Clca3a1	T	A	3: 144,717,567 (GRCm39)	N467I	probably damaging	Het
D130040H23Rik	T	C	8: 69,754,931 (GRCm39)	V112A	probably damaging	Het
Dbh	A	T	2: 27,058,318 (GRCm39)	D162V	probably damaging	Het
Dnah12	G	A	14: 26,500,869 (GRCm39)		probably null	Het
Dnm2	C	T	9: 21,385,862 (GRCm39)	T295I	probably benign	Het
Faiml	A	C	9: 99,116,446 (GRCm39)	D81E	probably benign	Het
Fer1l4	T	A	2: 155,886,477 (GRCm39)	Y720F	probably benign	Het
Fn1	A	C	1: 71,639,697 (GRCm39)		probably benign	Het
Ftsj3	T	C	11: 106,143,123 (GRCm39)	E397G	probably damaging	Het
Gm16506	T	C	14: 43,964,817 (GRCm39)	K42E		Het
Gpr179	A	G	11: 97,225,556 (GRCm39)	S2200P	probably benign	Het
Gusb	T	C	5: 130,028,884 (GRCm39)	D202G	probably benign	Het
Hspe1	A	G	1: 55,128,310 (GRCm39)	E35G	probably damaging	Het
Kptn	T	A	7: 15,857,023 (GRCm39)	H170Q	probably damaging	Het
Lama3	G	A	18: 12,595,839 (GRCm39)	A923T	probably benign	Het
Lmo7	T	A	14: 102,124,471 (GRCm39)	I432K	probably damaging	Het
Maneal	G	A	4: 124,750,905 (GRCm39)	P284S	probably benign	Het
Mrgbp	A	G	2: 180,224,682 (GRCm39)	T28A	probably benign	Het
Myo1h	T	C	5: 114,476,290 (GRCm39)	V493A		Het
Naxd	T	C	8: 11,556,745 (GRCm39)	L122P	probably damaging	Het
Neto2	T	C	8: 86,397,020 (GRCm39)		probably null	Het
Obscn	T	A	11: 58,904,078 (GRCm39)	R7299*	probably null	Het
Odf2l	G	A	3: 144,845,581 (GRCm39)	V363I	possibly damaging	Het
Or2g25	T	C	17: 37,970,699 (GRCm39)	H175R	probably damaging	Het
Or2t35	A	G	14: 14,407,998 (GRCm38)	T257A	possibly damaging	Het
Or4c100	A	T	2: 88,356,170 (GRCm39)	D81V	probably damaging	Het
Or52a5b	A	T	7: 103,416,940 (GRCm39)	Y221*	probably null	Het
Or5b105	T	A	19: 13,080,537 (GRCm39)	I44F	probably benign	Het
Otud3	G	A	4: 138,624,067 (GRCm39)	P325L	probably benign	Het
Palb2	T	C	7: 121,724,057 (GRCm39)	N564S	probably benign	Het
Pcnt	A	G	10: 76,263,761 (GRCm39)	V401A	possibly damaging	Het
Plcd4	G	A	1: 74,604,524 (GRCm39)	E767K	probably benign	Het
Ppp3ca	T	C	3: 136,574,387 (GRCm39)	F95S	probably damaging	Het
Psma2	T	A	13: 14,799,815 (GRCm39)	D186E	probably benign	Het
Psmd11	T	A	11: 80,329,099 (GRCm39)	Y72*	probably null	Het
Ror1	G	A	4: 100,160,142 (GRCm39)	D53N	probably benign	Het
Rubcn	C	T	16: 32,656,839 (GRCm39)	R527Q	probably damaging	Het
Sgca	G	A	11: 94,860,373 (GRCm39)	P255S	possibly damaging	Het
Skint11	A	T	4: 114,084,993 (GRCm39)	R167S	probably benign	Het
Slco5a1	A	G	1: 13,060,661 (GRCm39)	V20A	probably benign	Het
Snai2	T	C	16: 14,524,970 (GRCm39)	S159P	probably benign	Het
Taar2	T	G	10: 23,816,725 (GRCm39)	S88R	probably damaging	Het
Tacc3	T	A	5: 33,824,509 (GRCm39)	N378K	possibly damaging	Het
Tek	A	G	4: 94,699,647 (GRCm39)	K342E	probably benign	Het
Tm9sf3	G	T	19: 41,233,944 (GRCm39)	S198*	probably null	Het
Tmbim4	T	A	10: 120,051,514 (GRCm39)	F56I	possibly damaging	Het
Tsen34	T	A	7: 3,697,986 (GRCm39)	S85T	probably benign	Het
Ttc27	C	A	17: 75,054,710 (GRCm39)	Q339K	probably benign	Het
Ubap2	G	T	4: 41,205,550 (GRCm39)	P636T	probably benign	Het
Ubr1	G	A	2: 120,705,979 (GRCm39)	L1495F	probably benign	Het
Vsig10	T	C	5: 117,481,967 (GRCm39)	S386P	probably damaging	Het
Wnk2	C	A	13: 49,300,653 (GRCm39)	R19L	probably benign	Het
Wsb2	T	C	5: 117,508,944 (GRCm39)	L126P	probably damaging	Het
Xylb	A	G	9: 119,211,358 (GRCm39)	I402V	probably benign	Het
Yrdc	A	G	4: 124,744,748 (GRCm39)	S61G	probably benign	Het
Zbtb3	A	G	19: 8,780,771 (GRCm39)	D128G	probably damaging	Het
Zfp423	C	T	8: 88,507,489 (GRCm39)	G952R	probably damaging	Het
Zfp646	A	G	7: 127,478,944 (GRCm39)	T374A	possibly damaging	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
R1513:Prkar2a	UTSW	9	108,605,469 (GRCm39)	missense	possibly damaging	0.82
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
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'- GCATGAGCCACATCCAGATC -3'
(R):5'- TTTGGAATGCTCACACGCC -3'

Sequencing Primer
(F):5'- ACATCCAGATCCCCGCGG -3'
(R):5'- TGGAGAGCTCTCGGGTC -3'

Posted On

2019-05-15