Mutagenetix > Incidental Mutation

Incidental Mutation 'R5435:Prkar2a'

428272

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

043000-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5435 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108569342-108627643 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108617682 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 247 (R247G)

Ref Sequence

ENSEMBL: ENSMUSP00000141869 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000035220
AA Change: R247G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000035220
Gene: ENSMUSG00000032601
AA Change: R247G

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

noncoding transcript
Transcript: ENSMUST00000083740

Predicted Effect

unknown
Transcript: ENSMUST00000192068
AA Change: R146G

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193215

Predicted Effect

probably damaging
Transcript: ENSMUST00000195405
AA Change: R247G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141869
Gene: ENSMUSG00000032601
AA Change: R247G

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

Meta Mutation Damage Score

0.9494

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (74/74)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,383,413 (GRCm39)	F851L	probably benign	Het
Abca17	C	T	17: 24,486,588 (GRCm39)	V1480I	possibly damaging	Het
Acsbg1	G	T	9: 54,523,153 (GRCm39)	Y491*	probably null	Het
Acsf3	T	A	8: 123,507,020 (GRCm39)	N104K	probably damaging	Het
Adam23	T	C	1: 63,585,612 (GRCm39)	Y400H	possibly damaging	Het
Adgra3	G	A	5: 50,147,468 (GRCm39)	T524M	probably damaging	Het
Aff1	G	A	5: 103,902,198 (GRCm39)		probably benign	Het
Anxa9	T	C	3: 95,204,561 (GRCm39)	Y321C	probably damaging	Het
Ap1g1	T	A	8: 110,565,552 (GRCm39)	Y329N	probably damaging	Het
Aph1c	A	T	9: 66,741,783 (GRCm39)	I33N	possibly damaging	Het
B3galnt2	A	G	13: 14,171,575 (GRCm39)	E491G	probably benign	Het
Bdh1	C	T	16: 31,275,475 (GRCm39)	R235C	probably damaging	Het
Ccar2	A	G	14: 70,376,776 (GRCm39)	L856P	probably damaging	Het
Ccdc107	A	T	4: 43,493,519 (GRCm39)	D30V	probably damaging	Het
Ccdc116	G	T	16: 16,960,626 (GRCm39)	H64N	probably benign	Het
Ccl12	T	C	11: 81,994,001 (GRCm39)	I86T	possibly damaging	Het
Col2a1	T	C	15: 97,898,391 (GRCm39)		probably benign	Het
Col4a4	T	A	1: 82,431,728 (GRCm39)	I1519F	unknown	Het
Ddx19b	T	C	8: 111,735,458 (GRCm39)	Q416R	possibly damaging	Het
Dnah6	T	A	6: 73,037,121 (GRCm39)	M3374L	probably benign	Het
Dnajc6	A	T	4: 101,463,807 (GRCm39)	I119F	probably damaging	Het
Ensa	C	A	3: 95,529,769 (GRCm39)		probably benign	Het
Fbxo4	C	T	15: 3,995,274 (GRCm39)	V357I	possibly damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Foxf1	G	A	8: 121,811,231 (GRCm39)	G32S	probably damaging	Het
Gls2	G	A	10: 128,030,995 (GRCm39)		probably benign	Het
Gm13599	T	A	2: 67,226,496 (GRCm39)		noncoding transcript	Het
Gmnn	A	G	13: 24,936,084 (GRCm39)	S197P	probably benign	Het
Guf1	A	T	5: 69,720,512 (GRCm39)	H324L	probably benign	Het
H2-Q6	A	G	17: 35,644,661 (GRCm39)	D150G	probably damaging	Het
Herc3	T	A	6: 58,832,791 (GRCm39)	L152Q	probably damaging	Het
Hnrnpul2	T	G	19: 8,797,682 (GRCm39)	S13A	probably benign	Het
Ighv5-4	A	G	12: 113,561,283 (GRCm39)	F46L	probably benign	Het
Kank1	T	G	19: 25,388,507 (GRCm39)	S727A	probably benign	Het
Kcnma1	A	T	14: 23,578,472 (GRCm39)	Y201*	probably null	Het
Lyst	A	T	13: 13,951,649 (GRCm39)	H3750L	possibly damaging	Het
Mettl25	A	G	10: 105,615,447 (GRCm39)		probably null	Het
Mpdz	A	G	4: 81,201,724 (GRCm39)		probably benign	Het
Myh9	C	T	15: 77,653,809 (GRCm39)	V1280I	probably benign	Het
Neto1	A	T	18: 86,416,388 (GRCm39)	T32S	probably benign	Het
Nol7	C	A	13: 43,554,848 (GRCm39)	H187Q	possibly damaging	Het
Or5ak22	T	A	2: 85,230,814 (GRCm39)	N21I	probably benign	Het
Pcdha8	A	G	18: 37,126,652 (GRCm39)	D378G	probably damaging	Het
Peak1	A	G	9: 56,113,770 (GRCm39)	S694P	probably damaging	Het
Pih1d1	T	A	7: 44,805,696 (GRCm39)		probably null	Het
Pik3c2g	T	G	6: 139,661,581 (GRCm39)		probably null	Het
Psg26	A	G	7: 18,212,398 (GRCm39)	I319T	possibly damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Rasa3	T	C	8: 13,681,811 (GRCm39)	E46G	possibly damaging	Het
Rbbp5	T	A	1: 132,422,013 (GRCm39)	H304Q	probably damaging	Het
Relch	T	A	1: 105,668,975 (GRCm39)		probably benign	Het
Scn1a	T	A	2: 66,103,878 (GRCm39)	E1783V	probably damaging	Het
Stag1	A	G	9: 100,835,603 (GRCm39)	N151S	probably benign	Het
Tbc1d32	C	A	10: 55,916,246 (GRCm39)	A1191S	probably damaging	Het
Tchh	C	A	3: 93,350,979 (GRCm39)	R140S	possibly damaging	Het
Trank1	A	G	9: 111,220,958 (GRCm39)	Y2565C	probably benign	Het
Ttn	A	T	2: 76,744,702 (GRCm39)	V5449D	probably damaging	Het
Tubgcp2	G	A	7: 139,575,985 (GRCm39)	P893S	possibly damaging	Het
Wdfy4	A	G	14: 32,742,268 (GRCm39)	F2325S	probably damaging	Het
Wdr35	A	G	12: 9,039,951 (GRCm39)	D352G	probably benign	Het
Wee1	TCCCC	TCCC	7: 109,723,776 (GRCm39)		probably null	Het
Ypel3	A	G	7: 126,374,960 (GRCm39)		probably benign	Het
Zan	T	A	5: 137,402,024 (GRCm39)	T4023S	unknown	Het
Zfp735	T	A	11: 73,602,939 (GRCm39)	C628S	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
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'- TGGCACTCACTGAACACAG -3'
(R):5'- GGATAAAGCCTGACTGAATGTTATGG -3'

Sequencing Primer
(F):5'- ACAGTTTGGAAACTTCTGCTTAGAGG -3'
(R):5'- GCCTGACTGAATGTTATGGTTACAAC -3'

Posted On

2016-09-01