Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01017:Ppp1ca'

278232

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppp1ca

Ensembl Gene

ENSMUSG00000040385

Gene Name

protein phosphatase 1 catalytic subunit alpha

Synonyms

Ppp1c, dism2

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

IGL01017

Quality Score

Status

Chromosome

Chromosomal Location

4242173-4245418 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4243110 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 93 (Y93H)

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

probably damaging
Transcript: ENSMUST00000046094
AA Change: Y93H

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000039109
Gene: ENSMUSG00000040385
AA Change: Y93H

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

Coding Region Coverage

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ambn	G	A	5: 88,607,218 (GRCm39)	A29T	probably damaging	Het
Ankrd11	T	C	8: 123,621,467 (GRCm39)	K795R	probably damaging	Het
Atg3	T	C	16: 45,004,174 (GRCm39)		probably null	Het
Ccdc169	T	C	3: 55,078,739 (GRCm39)	V200A	possibly damaging	Het
Cdr2l	C	A	11: 115,283,564 (GRCm39)	Q141K	probably damaging	Het
Cts3	T	A	13: 61,715,988 (GRCm39)	I93F	probably damaging	Het
Eif2ak2	A	G	17: 79,171,287 (GRCm39)	L372S	probably damaging	Het
Elovl5	T	C	9: 77,888,853 (GRCm39)	I240T	possibly damaging	Het
Farp1	C	T	14: 121,510,186 (GRCm39)	A728V	possibly damaging	Het
Fbln1	A	G	15: 85,128,390 (GRCm39)	D529G	possibly damaging	Het
Flnb	G	T	14: 7,917,390 (GRCm38)		probably benign	Het
Gm14401	A	T	2: 176,778,625 (GRCm39)	H237L	probably damaging	Het
Hivep3	T	A	4: 119,956,443 (GRCm39)	H1586Q	probably damaging	Het
Igkv12-98	T	A	6: 68,548,093 (GRCm39)	L74*	probably null	Het
Iigp1c	T	A	18: 60,378,508 (GRCm39)	D14E	possibly damaging	Het
Ktn1	T	C	14: 47,946,335 (GRCm39)	S917P	probably benign	Het
Lama3	T	C	18: 12,574,200 (GRCm39)		probably null	Het
Lamb1	A	G	12: 31,351,063 (GRCm39)	D723G	possibly damaging	Het
Lrrc39	A	T	3: 116,364,500 (GRCm39)	R130S	probably benign	Het
Mcm3	A	C	1: 20,875,039 (GRCm39)		probably null	Het
Muc19	T	G	15: 91,764,901 (GRCm39)		noncoding transcript	Het
Necap2	A	G	4: 140,794,879 (GRCm39)	F266S	probably damaging	Het
Nfil3	C	T	13: 53,122,055 (GRCm39)	G283D	probably damaging	Het
Nlrp4e	A	T	7: 23,021,092 (GRCm39)	K526N	possibly damaging	Het
Or13a20	A	G	7: 140,232,389 (GRCm39)	T166A	probably benign	Het
Or4p7	T	A	2: 88,222,245 (GRCm39)	V218E	possibly damaging	Het
Pelp1	G	A	11: 70,287,720 (GRCm39)	R401W	probably damaging	Het
Phldb3	G	T	7: 24,328,295 (GRCm39)	C613F	probably damaging	Het
Ppp1r3b	A	G	8: 35,851,476 (GRCm39)	E105G	probably benign	Het
Prb1a	G	T	6: 132,184,194 (GRCm39)	Q480K	unknown	Het
Ryr1	A	T	7: 28,781,968 (GRCm39)	I2007N	probably damaging	Het
Scgb1b27	A	G	7: 33,721,228 (GRCm39)	T39A	probably damaging	Het
Serpinb3b	T	C	1: 107,082,187 (GRCm39)	D359G	probably benign	Het
Sgo2b	G	T	8: 64,379,557 (GRCm39)	R1092S	probably benign	Het
Sh3pxd2b	C	A	11: 32,353,993 (GRCm39)	S187*	probably null	Het
Slc11a1	T	A	1: 74,418,955 (GRCm39)	L92H	probably damaging	Het
Smc3	T	C	19: 53,617,758 (GRCm39)	V585A	probably damaging	Het
Sp6	A	G	11: 96,913,429 (GRCm39)		probably benign	Het
Spata16	A	T	3: 26,894,871 (GRCm39)	I307F	possibly damaging	Het
Tfpi2	T	A	6: 3,965,359 (GRCm39)	H33L	probably benign	Het
Tnxb	T	A	17: 34,912,782 (GRCm39)	D1642E	probably damaging	Het
Ttc1	T	C	11: 43,621,320 (GRCm39)	N287S	probably damaging	Het
Ttc9	G	A	12: 81,678,536 (GRCm39)	V120I	possibly damaging	Het
Umps	A	G	16: 33,787,272 (GRCm39)	V27A	probably damaging	Het
Usp50	C	A	2: 126,551,334 (GRCm39)	M48I	probably damaging	Het
Vmn1r76	A	T	7: 11,664,309 (GRCm39)	C267S	possibly damaging	Het
Wee1	A	T	7: 109,725,055 (GRCm39)	D275V	possibly damaging	Het
Zmym6	C	T	4: 126,982,152 (GRCm39)	P63L	probably benign	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
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
R2680:Ppp1ca	UTSW	19	4,244,594 (GRCm39)	missense	possibly damaging	0.81
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

Posted On

2015-04-16