Mutagenetix > Incidental Mutation

Incidental Mutation 'R1693:Prkaca'

191934

Institutional Source

Beutler Lab

Gene Symbol

Prkaca

Ensembl Gene

ENSMUSG00000005469

Gene Name

protein kinase, cAMP dependent, catalytic, alpha

Synonyms

PKA, C alpha, Cs, Pkaca

MMRRC Submission

039726-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.781) question?

Stock #

R1693 (G1)

Quality Score

207

Status

Validated

Chromosome

Chromosomal Location

84699622-84723072 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84707827 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 37 (D37E)

Ref Sequence

ENSEMBL: ENSMUSP00000147256 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005606] [ENSMUST00000211558]

AlphaFold

P05132

Predicted Effect

probably benign
Transcript: ENSMUST00000005606
AA Change: D45E

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

SMART Domains

Protein: ENSMUSP00000005606
Gene: ENSMUSG00000005469
AA Change: D45E

Domain	Start	End	E-Value	Type
S_TKc	44	298	2e-107	SMART
S_TK_X	299	344	3.7e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000211558
AA Change: D37E

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.2%
20x: 92.2%

Validation Efficiency

96% (69/72)

MGI Phenotype

FUNCTION: This gene encodes a member of the serine/threonine protein kinase family. The holoenzyme, protein kinase A (also known as cyclic-AMP dependent protein kinase), mediates cellular response to changes in cyclic-AMP levels. This gene encodes the alpha catalytic subunit of protein kinase A. Protein kinase A-mediated signaling is transduced via phosphorylation of target proteins, and is important for many cellular functions, including mammalian sperm maturation and motility. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Apr 2013]
PHENOTYPE: Homozygous mutant mice are highly susceptible to perinatal lethality. Surviving mice are runted and while spermatogenesis progresses normally, mature sperm shows impaired motility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff4	A	G	11: 53,287,380 (GRCm39)	D378G	probably damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Aox1	T	C	1: 58,124,701 (GRCm39)	Y981H	probably damaging	Het
Arfgap2	T	A	2: 91,100,420 (GRCm39)		probably null	Het
Ccnf	TGGGGG	TGGGGGGG	17: 24,445,514 (GRCm39)		probably null	Het
Cd53	T	C	3: 106,676,205 (GRCm39)	N54S	possibly damaging	Het
Cep152	C	A	2: 125,408,174 (GRCm39)	A1390S	probably benign	Het
Cfap91	A	G	16: 38,162,085 (GRCm39)	Y19H	probably benign	Het
Chd7	T	C	4: 8,864,307 (GRCm39)		probably null	Het
Chrm5	A	G	2: 112,309,625 (GRCm39)	L497P	probably damaging	Het
Colec12	G	A	18: 9,866,765 (GRCm39)	V659M	unknown	Het
Creb3	C	A	4: 43,566,755 (GRCm39)	H390Q	probably damaging	Het
D1Pas1	T	C	1: 186,700,226 (GRCm39)	F52L	probably benign	Het
D5Ertd579e	A	G	5: 36,771,441 (GRCm39)	F985L	probably damaging	Het
Dock4	C	T	12: 40,884,721 (GRCm39)	P1742S	probably benign	Het
Ehmt2	G	T	17: 35,125,386 (GRCm39)	V534L	possibly damaging	Het
Epcam	A	G	17: 87,947,324 (GRCm39)	D26G	probably benign	Het
F2	C	T	2: 91,459,524 (GRCm39)	V420M	probably damaging	Het
Fbxw16	A	T	9: 109,265,327 (GRCm39)	D401E	possibly damaging	Het
Fiz1	T	C	7: 5,011,727 (GRCm39)	T264A	probably benign	Het
Fsbp	T	C	4: 11,583,745 (GRCm39)	V148A	probably benign	Het
Furin	A	G	7: 80,042,230 (GRCm39)	L455P	probably damaging	Het
Ggt7	G	A	2: 155,348,395 (GRCm39)	R10W	probably damaging	Het
Gucy2g	T	C	19: 55,211,358 (GRCm39)	E624G	probably damaging	Het
Igf2r	A	G	17: 12,923,203 (GRCm39)	F1202S	probably damaging	Het
Ikzf1	C	T	11: 11,657,838 (GRCm39)	P32S	probably damaging	Het
Itgal	G	A	7: 126,904,453 (GRCm39)	V309M	probably damaging	Het
Kcnk5	C	A	14: 20,191,964 (GRCm39)	R399L	probably damaging	Het
Kdm5b	C	T	1: 134,525,314 (GRCm39)		probably benign	Het
Lrp2	C	T	2: 69,340,762 (GRCm39)	V1038M	probably damaging	Het
Lrp4	T	C	2: 91,322,698 (GRCm39)	Y1096H	probably damaging	Het
Lrrc7	C	G	3: 157,790,170 (GRCm39)	S1465T	possibly damaging	Het
Map3k5	A	G	10: 19,979,988 (GRCm39)	N832S	probably damaging	Het
Mrtfb	C	A	16: 13,216,334 (GRCm39)	L349I	possibly damaging	Het
Mrtfb	T	A	16: 13,216,335 (GRCm39)	L349Q	probably damaging	Het
Myh13	A	C	11: 67,232,310 (GRCm39)	M495L	possibly damaging	Het
Myh9	A	C	15: 77,697,097 (GRCm39)	Y106D	probably damaging	Het
Naa16	A	T	14: 79,588,896 (GRCm39)	W452R	probably damaging	Het
Nsd1	T	C	13: 55,395,074 (GRCm39)	S892P	probably benign	Het
Nup205	A	G	6: 35,187,906 (GRCm39)	I939V	probably benign	Het
Oit3	A	G	10: 59,261,239 (GRCm39)	F476S	probably damaging	Het
Or7e174	T	C	9: 20,012,883 (GRCm39)	V276A	probably benign	Het
Panx3	A	T	9: 37,580,203 (GRCm39)	M50K	possibly damaging	Het
Panx3	A	C	9: 37,580,242 (GRCm39)	M37R	possibly damaging	Het
Pip4p2	T	A	4: 14,886,631 (GRCm39)	D68E	probably benign	Het
Ppp2r5e	C	G	12: 75,516,341 (GRCm39)	A239P	probably damaging	Het
Prkcq	T	A	2: 11,259,010 (GRCm39)	I310N	probably damaging	Het
Prrc2c	A	G	1: 162,546,282 (GRCm39)	Y235H	probably damaging	Het
Ptprj	A	T	2: 90,280,141 (GRCm39)	C1052*	probably null	Het
Rad52	C	A	6: 119,892,996 (GRCm39)	P180Q	probably damaging	Het
Sdhaf3	T	A	6: 7,038,964 (GRCm39)	D95E	probably benign	Het
Slitrk6	A	G	14: 110,988,360 (GRCm39)	I449T	probably damaging	Het
Spata7	T	A	12: 98,630,516 (GRCm39)	M358K	possibly damaging	Het
Tada2a	C	T	11: 83,972,895 (GRCm39)	G178D	probably damaging	Het
Tap2	G	C	17: 34,428,186 (GRCm39)	V287L	probably benign	Het
Tmem200a	A	G	10: 25,869,877 (GRCm39)	F131L	possibly damaging	Het
Traip	A	T	9: 107,847,229 (GRCm39)	K356M	probably damaging	Het
Tspan8	T	A	10: 115,679,949 (GRCm39)		probably benign	Het
U2surp	A	T	9: 95,393,913 (GRCm39)	M1K	probably null	Het
Vars1	A	T	17: 35,217,172 (GRCm39)	D427E	probably benign	Het
Vmn1r113	G	A	7: 20,521,532 (GRCm39)	C108Y	probably damaging	Het
Vmn2r63	T	A	7: 42,577,743 (GRCm39)	Q265L	probably benign	Het
Vps33b	T	A	7: 79,937,641 (GRCm39)	V463E	probably damaging	Het
Vrtn	T	C	12: 84,695,429 (GRCm39)	S60P	probably benign	Het
Zfp53	T	A	17: 21,729,884 (GRCm39)	V639D	possibly damaging	Het
Zfp964	T	A	8: 70,116,800 (GRCm39)	S466T	possibly damaging	Het

Other mutations in Prkaca

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01832:Prkaca	APN	8	84,717,366 (GRCm39)	missense	probably damaging	1.00
IGL02011:Prkaca	APN	8	84,717,565 (GRCm39)	missense	probably damaging	1.00
IGL03022:Prkaca	APN	8	84,721,976 (GRCm39)	missense	possibly damaging	0.56
IGL03038:Prkaca	APN	8	84,721,580 (GRCm39)	missense	probably benign
IGL03236:Prkaca	APN	8	84,717,074 (GRCm39)	missense	probably damaging	1.00
Undergraduate	UTSW	8	84,713,524 (GRCm39)	missense	probably benign	0.07
R0013:Prkaca	UTSW	8	84,714,932 (GRCm39)	missense	possibly damaging	0.64
R0458:Prkaca	UTSW	8	84,721,911 (GRCm39)	splice site	probably benign
R1827:Prkaca	UTSW	8	84,717,616 (GRCm39)	critical splice donor site	probably null
R1860:Prkaca	UTSW	8	84,707,852 (GRCm39)	missense	probably benign	0.11
R1955:Prkaca	UTSW	8	84,714,946 (GRCm39)	missense	probably damaging	0.97
R4084:Prkaca	UTSW	8	84,721,939 (GRCm39)	missense	probably damaging	1.00
R4770:Prkaca	UTSW	8	84,717,499 (GRCm39)	missense	probably benign	0.05
R7867:Prkaca	UTSW	8	84,721,963 (GRCm39)	missense	probably benign	0.00
R7887:Prkaca	UTSW	8	84,713,524 (GRCm39)	missense	probably benign	0.07
R8313:Prkaca	UTSW	8	84,717,151 (GRCm39)	missense	probably damaging	1.00
R8893:Prkaca	UTSW	8	84,717,151 (GRCm39)	missense	probably damaging	1.00
R8902:Prkaca	UTSW	8	84,703,714 (GRCm39)	missense	probably benign	0.11
R9184:Prkaca	UTSW	8	84,717,305 (GRCm39)	missense	probably benign	0.01
R9642:Prkaca	UTSW	8	84,717,088 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGAGCACCTCAGAGTAAGCAGTACC -3'
(R):5'- CCTTGGCACTGACAGACATGAGAG -3'

Sequencing Primer
(F):5'- CAGTACCCATGTGATGGGC -3'
(R):5'- CACTGACAGACATGAGAGGTACAC -3'

Posted On

2014-05-14