Mutagenetix > Incidental Mutations

Incidental Mutation 'R1860:Prkaca'

203808

Institutional Source

Beutler Lab

Gene Symbol

Prkaca

Ensembl Gene

ENSMUSG00000005469

Gene Name

protein kinase, cAMP dependent, catalytic, alpha

Synonyms

Pkaca, C alpha, PKA, Cs

MMRRC Submission

039883-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.610) question?

Stock #

R1860 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83972993-83996443 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83981223 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 46 (S46P)

Ref Sequence

ENSEMBL: ENSMUSP00000147256 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000005606
AA Change: S54P

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000005606
Gene: ENSMUSG00000005469
AA Change: S54P

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: S46P

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.7%

Validation Efficiency

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	G	5: 109,736,232	C587R	probably damaging	Het
Abca16	T	A	7: 120,534,763	S1320T	probably benign	Het
Abra	C	A	15: 41,869,034	R212L	probably damaging	Het
Acadsb	T	A	7: 131,444,229		probably null	Het
Adam26a	A	G	8: 43,569,541	V304A	possibly damaging	Het
Adgre1	T	C	17: 57,441,363	V521A	probably benign	Het
Adh5	G	A	3: 138,453,778	V288I	probably benign	Het
Astn1	A	C	1: 158,601,945	N753T	probably damaging	Het
Atad2	A	T	15: 58,096,718		probably null	Het
Best3	A	G	10: 116,993,273	T153A	probably damaging	Het
Ccdc122	G	A	14: 77,111,407	V226I	probably damaging	Het
Ccdc175	T	C	12: 72,105,926	Q735R	probably benign	Het
Cd19	T	A	7: 126,409,641	I499F	probably damaging	Het
Cftr	T	A	6: 18,268,289	L749H	probably benign	Het
Clec2h	G	T	6: 128,675,827	G186W	probably damaging	Het
Cpsf3	T	A	12: 21,296,732	I202N	probably damaging	Het
Crebbp	G	T	16: 4,087,736	T1669N	possibly damaging	Het
Csmd3	A	T	15: 47,659,192	C2694S	probably damaging	Het
Cul4a	G	A	8: 13,123,565	R204Q	probably damaging	Het
D230025D16Rik	A	G	8: 105,240,071	E150G	probably null	Het
Derl2	A	G	11: 71,018,343	F43S	probably damaging	Het
Dnah14	T	A	1: 181,763,960	N3348K	probably damaging	Het
Dnhd1	T	C	7: 105,704,205	V2855A	probably benign	Het
Dpysl4	G	T	7: 139,090,299	C27F	probably benign	Het
Fam228b	G	A	12: 4,748,314	A163V	probably damaging	Het
Fscn1	T	C	5: 142,970,063		probably null	Het
Fzd5	C	A	1: 64,734,994	R536L	probably damaging	Het
Gm8180	T	A	14: 43,783,739	H4L	probably benign	Het
Gpr176	T	A	2: 118,373,178	N4Y	probably damaging	Het
Grin3a	T	C	4: 49,665,309	I1109V	possibly damaging	Het
H2afy	A	G	13: 56,083,204	L287P	probably damaging	Het
Hcar1	T	A	5: 123,879,029	I200F	probably damaging	Het
Heatr4	G	A	12: 83,979,728	Q252*	probably null	Het
Hps1	G	A	19: 42,762,449	H371Y	probably damaging	Het
Ikzf2	T	C	1: 69,570,502	T195A	probably damaging	Het
Kdm1b	G	A	13: 47,049,190	A34T	probably benign	Het
Lef1	A	G	3: 131,111,641	N57S	probably damaging	Het
Ltn1	A	T	16: 87,416,343	D443E	probably benign	Het
Mamdc2	T	C	19: 23,359,153	T331A	probably damaging	Het
March10	A	T	11: 105,397,078	S133T	probably damaging	Het
Mb	A	G	15: 77,017,584	Y104H	probably damaging	Het
Mrc1	C	A	2: 14,328,579	P1357Q	probably benign	Het
Nfib	C	T	4: 82,323,680	V425M	probably damaging	Het
Olfr1197	T	G	2: 88,729,330	I90L	probably damaging	Het
Olfr1262	G	A	2: 90,003,146	V247I	probably benign	Het
Olfr1272	C	A	2: 90,282,158	C139F	probably damaging	Het
Olfr1467	T	A	19: 13,365,341	S238T	possibly damaging	Het
Olfr473	A	G	7: 107,934,390	Y290C	probably damaging	Het
Olfr527	G	A	7: 140,336,219	R119H	possibly damaging	Het
Olfr654	T	C	7: 104,587,905	S34P	probably damaging	Het
Olfr732	A	T	14: 50,281,391	Y287*	probably null	Het
Olfr784	T	C	10: 129,388,086	F151S	probably damaging	Het
Olfr916	A	T	9: 38,658,365	V9E	probably damaging	Het
Piezo1	T	C	8: 122,495,750	N919S	possibly damaging	Het
Prkcb	T	G	7: 122,568,201	V378G	probably damaging	Het
Ptprf	A	T	4: 118,223,932	L576Q	probably damaging	Het
Rapgef4	T	C	2: 72,234,720	V687A	probably benign	Het
Rsad2	C	T	12: 26,450,617	V224I	probably damaging	Het
Ryr1	A	T	7: 29,009,552	D4796E	unknown	Het
Scn1a	C	T	2: 66,317,982	S1073N	probably damaging	Het
Slc26a3	A	G	12: 31,465,846	M582V	probably benign	Het
Tbc1d32	A	T	10: 56,123,537	Y846*	probably null	Het
Tbk1	A	T	10: 121,547,171	M719K	probably benign	Het
Timeless	A	G	10: 128,246,114	K536R	probably benign	Het
Tle6	G	T	10: 81,594,329	Q330K	probably damaging	Het
Tmem208	A	G	8: 105,334,806	K155E	possibly damaging	Het
Toe1	T	C	4: 116,805,229	Y273C	probably damaging	Het
Tppp2	A	C	14: 51,920,605	N169T	probably benign	Het
Ttll6	T	A	11: 96,138,874	Y204*	probably null	Het
Ubxn11	G	A	4: 134,124,838	S32N	probably damaging	Het
Usp8	G	A	2: 126,756,040	C961Y	probably damaging	Het
Vdac3	A	T	8: 22,580,499	I132K	possibly damaging	Het
Vmn2r124	G	T	17: 18,049,497	W5L	probably benign	Het
Vmn2r71	A	T	7: 85,615,574	D38V	probably damaging	Het
Vmn2r87	C	T	10: 130,479,886	V104I	probably benign	Het
Vmn2r97	C	T	17: 18,947,386	T634I	probably benign	Het
Vps50	T	C	6: 3,520,279		probably null	Het
Wwc2	T	C	8: 47,990,102	N32S	possibly damaging	Het
Ythdc2	T	A	18: 44,872,956	I1172K	possibly damaging	Het
Zfp14	C	T	7: 30,038,691	V290M	probably damaging	Het
Zfp317	G	A	9: 19,641,984	A18T	possibly damaging	Het
Zfp354b	A	T	11: 50,923,542	N185K	probably benign	Het
Zscan21	T	A	5: 138,126,630	D269E	probably benign	Het

Other mutations in Prkaca

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01832:Prkaca	APN	8	83990737	missense	probably damaging	1.00
IGL02011:Prkaca	APN	8	83990936	missense	probably damaging	1.00
IGL03022:Prkaca	APN	8	83995347	missense	possibly damaging	0.56
IGL03038:Prkaca	APN	8	83994951	missense	probably benign
IGL03236:Prkaca	APN	8	83990445	missense	probably damaging	1.00
R0013:Prkaca	UTSW	8	83988303	missense	possibly damaging	0.64
R0458:Prkaca	UTSW	8	83995282	splice site	probably benign
R1693:Prkaca	UTSW	8	83981198	missense	probably benign
R1827:Prkaca	UTSW	8	83990987	critical splice donor site	probably null
R1955:Prkaca	UTSW	8	83988317	missense	probably damaging	0.97
R4084:Prkaca	UTSW	8	83995310	missense	probably damaging	1.00
R4770:Prkaca	UTSW	8	83990870	missense	probably benign	0.05
R7867:Prkaca	UTSW	8	83995334	missense	probably benign	0.00
R7887:Prkaca	UTSW	8	83986895	missense	probably benign	0.07
R8313:Prkaca	UTSW	8	83990522	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGAATGTCCCCTGGGTCATC -3'
(R):5'- ACCTTTCTAAAACCTGAGGTGC -3'

Sequencing Primer
(F):5'- GTCCCCTGGGTCATCTCCAC -3'
(R):5'- GAGGTTTGCACTGCTAATTTACAG -3'

Posted On

2014-06-23