Mutagenetix > Incidental Mutation

Incidental Mutation 'R2680:Ppp1ca'

250985

Institutional Source

Beutler Lab

Gene Symbol

Ppp1ca

Ensembl Gene

ENSMUSG00000040385

Gene Name

protein phosphatase 1 catalytic subunit alpha

Synonyms

Ppp1c, dism2

MMRRC Submission

040433-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R2680 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4242173-4245418 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 4244594 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 218 (E218K)

Ref Sequence

ENSEMBL: ENSMUSP00000039109 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025740] [ENSMUST00000045864] [ENSMUST00000046094]

AlphaFold

P62137

Predicted Effect

probably benign
Transcript: ENSMUST00000025740

SMART Domains

Protein: ENSMUSP00000025740
Gene: ENSMUSG00000024824

Domain	Start	End	E-Value	Type
Pfam:Rad9	13	265	6.6e-101	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000045864

SMART Domains

Protein: ENSMUSP00000042660
Gene: ENSMUSG00000040247

Domain	Start	End	E-Value	Type
low complexity region	5	28	N/A	INTRINSIC
TBC	87	301	7.1e-61	SMART
low complexity region	393	408	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046094
AA Change: E218K

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000039109
Gene: ENSMUSG00000040385
AA Change: E218K

Domain	Start	End	E-Value	Type
PP2Ac	30	300	1.4e-164	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of the three catalytic subunits of protein phosphatase 1 (PP1). PP1 is a serine/threonine specific protein phosphatase known to be involved in the regulation of a variety of cellular processes, such as cell division, glycogen metabolism, muscle contractility, protein synthesis, and HIV-1 viral transcription. Increased PP1 activity has been observed in the end stage of heart failure. Studies in both human and mice suggest that PP1 is an important regulator of cardiac function. Mouse studies also suggest that PP1 functions as a suppressor of learning and memory. Three alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
BC024139	A	G	15: 76,005,939 (GRCm39)	W421R	probably damaging	Het
Car11	T	C	7: 45,351,909 (GRCm39)	S113P	probably benign	Het
Ccdc146	C	T	5: 21,510,267 (GRCm39)	A582T	possibly damaging	Het
Cct8l1	A	G	5: 25,722,133 (GRCm39)	T283A	probably benign	Het
Ckap5	A	G	2: 91,419,043 (GRCm39)	I1118V	probably benign	Het
Copa	C	T	1: 171,948,971 (GRCm39)	Q1199*	probably null	Het
Cpd	A	T	11: 76,681,825 (GRCm39)	N1140K	probably benign	Het
Cspp1	A	G	1: 10,174,530 (GRCm39)	D661G	probably damaging	Het
Dab2	A	G	15: 6,466,474 (GRCm39)	Q729R	possibly damaging	Het
Dnah9	T	C	11: 65,924,751 (GRCm39)	I2168V	probably benign	Het
Dync1h1	G	A	12: 110,609,681 (GRCm39)	R2821H	probably damaging	Het
Ercc5	T	C	1: 44,196,133 (GRCm39)	V42A	probably benign	Het
Evc	A	G	5: 37,467,581 (GRCm39)	V566A	probably benign	Het
Fcrl2	T	C	3: 87,164,656 (GRCm39)	Y290C	probably damaging	Het
Frmd4a	A	G	2: 4,539,364 (GRCm39)	R171G	probably damaging	Het
Galnt17	G	A	5: 131,140,661 (GRCm39)	P152L	probably damaging	Het
Gfi1	A	G	5: 107,869,297 (GRCm39)	L245P	probably damaging	Het
Heatr4	T	C	12: 84,027,237 (GRCm39)	K7E	possibly damaging	Het
Ifit3b	A	G	19: 34,589,705 (GRCm39)	N294D	probably benign	Het
Ift74	A	G	4: 94,541,265 (GRCm39)	Y230C	probably damaging	Het
Igsf10	C	T	3: 59,232,875 (GRCm39)	V1953I	probably benign	Het
Ikzf5	T	C	7: 130,998,490 (GRCm39)	D14G	probably damaging	Het
Il12rb2	T	A	6: 67,331,789 (GRCm39)	T259S	possibly damaging	Het
Itgae	T	A	11: 73,005,752 (GRCm39)	D305E	probably damaging	Het
Kif23	A	C	9: 61,844,758 (GRCm39)	D90E	probably benign	Het
Kprp	A	G	3: 92,731,770 (GRCm39)	F427L	unknown	Het
Lmnb1	T	A	18: 56,864,177 (GRCm39)	Y261N	probably damaging	Het
Megf8	T	C	7: 25,016,981 (GRCm39)	V17A	probably benign	Het
Mfap4	T	C	11: 61,378,057 (GRCm39)	Y190H	probably benign	Het
Mlh1	T	C	9: 111,065,085 (GRCm39)		probably null	Het
Mocos	C	A	18: 24,809,686 (GRCm39)	Q430K	probably damaging	Het
Ndst2	A	G	14: 20,774,822 (GRCm39)	F794L	probably damaging	Het
Nedd4l	A	T	18: 65,296,201 (GRCm39)	I197F	possibly damaging	Het
Nefm	A	G	14: 68,361,235 (GRCm39)	L343P	probably damaging	Het
Nfatc4	A	G	14: 56,070,291 (GRCm39)		probably benign	Het
Nlrp4a	T	A	7: 26,148,655 (GRCm39)		probably null	Het
Nlrp4f	A	T	13: 65,342,157 (GRCm39)	L496*	probably null	Het
Nom1	T	C	5: 29,648,415 (GRCm39)	F654S	probably damaging	Het
Or4k2	A	T	14: 50,424,304 (GRCm39)	Y123*	probably null	Het
Pcdhac2	A	G	18: 37,278,639 (GRCm39)	K540E	possibly damaging	Het
Pde4dip	T	C	3: 97,608,933 (GRCm39)	N1974S	possibly damaging	Het
Pik3c3	T	C	18: 30,477,131 (GRCm39)		probably null	Het
Pik3ca	C	T	3: 32,490,697 (GRCm39)	R115*	probably null	Het
Pik3ca	T	C	3: 32,498,034 (GRCm39)	I492T	probably benign	Het
Prex1	G	T	2: 166,443,692 (GRCm39)	D492E	possibly damaging	Het
Scaf8	T	C	17: 3,247,866 (GRCm39)	V1063A	possibly damaging	Het
Scn3a	G	T	2: 65,366,880 (GRCm39)	N47K	probably benign	Het
Sec61a2	G	T	2: 5,878,556 (GRCm39)	N348K	probably benign	Het
Sh3rf2	A	G	18: 42,234,715 (GRCm39)	E166G	probably damaging	Het
Slc19a2	C	A	1: 164,076,982 (GRCm39)	T54K	probably damaging	Het
Slc8a3	T	A	12: 81,249,113 (GRCm39)	I765F	probably damaging	Het
Snap91	A	T	9: 86,761,603 (GRCm39)	M1K	probably null	Het
Spef1l	T	C	7: 139,558,474 (GRCm39)	D41G	probably damaging	Het
Strc	T	C	2: 121,195,592 (GRCm39)	H1619R	probably damaging	Het
Tbl1xr1	C	T	3: 22,245,615 (GRCm39)	T207M	possibly damaging	Het
Tchp	T	C	5: 114,847,580 (GRCm39)		probably null	Het
Tln1	A	T	4: 43,539,668 (GRCm39)	F1581Y	probably damaging	Het
Tnxb	T	C	17: 34,922,594 (GRCm39)	V2469A	possibly damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn1r225	T	A	17: 20,723,055 (GRCm39)	F165L	probably benign	Het
Vmn2r13	T	C	5: 109,322,178 (GRCm39)	D173G	possibly damaging	Het
Vmn2r6	A	C	3: 64,445,707 (GRCm39)	S673A	possibly damaging	Het
Vta1	G	A	10: 14,581,171 (GRCm39)		probably benign	Het
Wwc1	T	C	11: 35,766,756 (GRCm39)	T500A	probably benign	Het
Zfp784	T	A	7: 5,039,116 (GRCm39)	Q147H	possibly damaging	Het

Other mutations in Ppp1ca

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00815:Ppp1ca	APN	19	4,243,143 (GRCm39)	missense	probably benign	0.25
IGL00834:Ppp1ca	APN	19	4,244,519 (GRCm39)	missense	probably benign	0.20
IGL01017:Ppp1ca	APN	19	4,243,110 (GRCm39)	missense	probably damaging	0.96
IGL02150:Ppp1ca	APN	19	4,244,698 (GRCm39)	splice site	probably benign
IGL02295:Ppp1ca	APN	19	4,244,481 (GRCm39)	nonsense	probably null
R0022:Ppp1ca	UTSW	19	4,244,580 (GRCm39)	missense	possibly damaging	0.51
R0022:Ppp1ca	UTSW	19	4,244,580 (GRCm39)	missense	possibly damaging	0.51
R3978:Ppp1ca	UTSW	19	4,242,253 (GRCm39)	missense	probably benign	0.05
R4514:Ppp1ca	UTSW	19	4,245,054 (GRCm39)	missense	probably benign
R5131:Ppp1ca	UTSW	19	4,244,895 (GRCm39)	missense	probably damaging	1.00
R7606:Ppp1ca	UTSW	19	4,243,088 (GRCm39)	missense	possibly damaging	0.94
R9413:Ppp1ca	UTSW	19	4,244,897 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CAGGACAGCACTTGGTTTAAG -3'
(R):5'- CACCAACTGTCTCTTGGCAAAG -3'

Sequencing Primer
(F):5'- CAGCACTTGGTTTAAGGAACAC -3'
(R):5'- CTGTCTCTTGGCAAAGAACTCATAGC -3'

Posted On

2014-12-04