Mutagenetix > Incidental Mutation

Incidental Mutation 'R2198:Ppp1cb'

238481

Institutional Source

Beutler Lab

Gene Symbol

Ppp1cb

Ensembl Gene

ENSMUSG00000014956

Gene Name

protein phosphatase 1 catalytic subunit beta

Synonyms

MMRRC Submission

040200-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2198 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32616192-32651057 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 32640704 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 139 (C139F)

Ref Sequence

ENSEMBL: ENSMUSP00000144047 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015100] [ENSMUST00000201360] [ENSMUST00000201880] [ENSMUST00000202078]

AlphaFold

P62141

Predicted Effect

probably damaging
Transcript: ENSMUST00000015100
AA Change: C139F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000015100
Gene: ENSMUSG00000014956
AA Change: C139F

Domain	Start	End	E-Value	Type
PP2Ac	29	299	1.14e-164	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000118396

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201207

Predicted Effect

probably damaging
Transcript: ENSMUST00000201360
AA Change: C139F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144047
Gene: ENSMUSG00000014956
AA Change: C139F

Domain	Start	End	E-Value	Type
PP2Ac	29	299	1.14e-164	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000201880

SMART Domains

Protein: ENSMUSP00000144350
Gene: ENSMUSG00000014956

Domain	Start	End	E-Value	Type
PP2Ac	1	72	1.1e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000202078

SMART Domains

Protein: ENSMUSP00000144167
Gene: ENSMUSG00000014956

Domain	Start	End	E-Value	Type
Blast:PP2Ac	1	56	7e-25	BLAST
SCOP:d1auia_	18	53	4e-11	SMART
PDB:1S70\|A	18	56	5e-21	PDB

Meta Mutation Damage Score

0.9609

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

98% (60/61)

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. Mouse studies suggest that PP1 functions as a suppressor of learning and memory. Two alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in lethality before weaning. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1a	T	C	14: 66,875,385 (GRCm39)	I120T	probably damaging	Het
Akr1c21	C	T	13: 4,627,464 (GRCm39)	P186L	probably damaging	Het
Alpk2	T	C	18: 65,483,255 (GRCm39)	K251R	probably benign	Het
Ank2	T	C	3: 126,728,226 (GRCm39)	E789G	possibly damaging	Het
Bag3	AAAGG	AAAGGAAGG	7: 128,147,493 (GRCm39)		probably null	Het
Cacna2d4	T	C	6: 119,324,220 (GRCm39)		probably benign	Het
Carf	G	A	1: 60,180,643 (GRCm39)	R355H	probably damaging	Het
Cdh20	A	T	1: 104,875,047 (GRCm39)		probably null	Het
Celf6	G	T	9: 59,510,622 (GRCm39)	L169F	possibly damaging	Het
Cep295nl	A	T	11: 118,223,419 (GRCm39)	I475N	probably benign	Het
Chdh	T	A	14: 29,753,489 (GRCm39)	S133T	possibly damaging	Het
Cnot6l	C	T	5: 96,227,800 (GRCm39)	D478N	possibly damaging	Het
Ctnna3	C	A	10: 64,838,524 (GRCm39)	T867K	probably benign	Het
Ctse	T	G	1: 131,600,185 (GRCm39)	Y311*	probably null	Het
Ddx60	T	A	8: 62,411,097 (GRCm39)	M453K	possibly damaging	Het
Dnah9	A	G	11: 65,750,325 (GRCm39)	F3927L	possibly damaging	Het
Dsg4	T	C	18: 20,594,499 (GRCm39)	S543P	probably benign	Het
Dspp	A	T	5: 104,323,567 (GRCm39)	T237S	probably benign	Het
Eml6	T	G	11: 29,800,935 (GRCm39)	H357P	probably benign	Het
Epha3	T	C	16: 63,664,507 (GRCm39)	I38V	possibly damaging	Het
Erap1	C	T	13: 74,794,806 (GRCm39)	T155I	probably damaging	Het
Erh	T	C	12: 80,689,559 (GRCm39)		probably benign	Het
F5	A	T	1: 164,034,603 (GRCm39)	K1834M	probably damaging	Het
Fyn	A	G	10: 39,405,541 (GRCm39)	E269G	probably benign	Het
Gm4884	A	G	7: 40,690,229 (GRCm39)	T42A	probably benign	Het
Grm1	T	G	10: 10,658,520 (GRCm39)	R323S	probably damaging	Het
Gstt4	T	C	10: 75,658,235 (GRCm39)	D8G	probably damaging	Het
Gvin-ps3	T	A	7: 105,682,758 (GRCm39)	M166L	probably benign	Het
Ldlr	A	G	9: 21,643,698 (GRCm39)	D94G	probably damaging	Het
Mrpl54	G	A	10: 81,101,575 (GRCm39)		probably null	Het
Naip2	A	T	13: 100,289,100 (GRCm39)	F1210Y	probably damaging	Het
Nifk	A	G	1: 118,257,130 (GRCm39)	R88G	probably benign	Het
Nlgn1	C	T	3: 25,487,925 (GRCm39)	M803I	probably damaging	Het
Or2r11	A	G	6: 42,437,950 (GRCm39)	M1T	probably null	Het
Or2y16	C	T	11: 49,334,786 (GRCm39)	S36F	probably benign	Het
Or6c88	T	A	10: 129,406,915 (GRCm39)	Y130*	probably null	Het
Or8g18	G	A	9: 39,149,048 (GRCm39)	T224I	possibly damaging	Het
Pip4k2a	A	T	2: 18,852,466 (GRCm39)	M272K	probably damaging	Het
Rad23b	G	A	4: 55,385,497 (GRCm39)	G345R	possibly damaging	Het
Shc4	A	T	2: 125,481,266 (GRCm39)	V548E	possibly damaging	Het
Slc26a9	A	G	1: 131,691,001 (GRCm39)		probably benign	Het
Slc8a1	T	A	17: 81,715,685 (GRCm39)	K783*	probably null	Het
Sobp	A	C	10: 42,898,520 (GRCm39)	I355S	possibly damaging	Het
Thbs4	A	G	13: 92,899,779 (GRCm39)	Y491H	possibly damaging	Het
Tle2	T	C	10: 81,426,147 (GRCm39)	V727A	probably damaging	Het
Tmprss9	C	T	10: 80,723,293 (GRCm39)	P251L	probably damaging	Het
Tnks	A	T	8: 35,315,803 (GRCm39)	D994E	probably benign	Het
Tnks	C	T	8: 35,340,221 (GRCm39)	D466N	probably benign	Het
Tonsl	A	G	15: 76,520,872 (GRCm39)	F394L	probably benign	Het
Trpa1	T	A	1: 14,980,970 (GRCm39)	Y144F	probably benign	Het
Usp22	A	G	11: 61,050,163 (GRCm39)	F324S	probably damaging	Het
Vmn1r78	G	T	7: 11,886,487 (GRCm39)	V33F	probably benign	Het
Wdr81	C	T	11: 75,336,907 (GRCm39)	R1494Q	probably benign	Het
Wdr87-ps	G	T	7: 29,226,697 (GRCm39)		noncoding transcript	Het
Zc3h14	G	A	12: 98,719,068 (GRCm39)	M144I	probably damaging	Het
Zc3h14	G	A	12: 98,719,069 (GRCm39)	V145M	possibly damaging	Het
Zfp82	T	C	7: 29,756,936 (GRCm39)	T49A	probably benign	Het

Other mutations in Ppp1cb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00678:Ppp1cb	APN	5	32,642,682 (GRCm39)	splice site	probably benign
IGL00908:Ppp1cb	APN	5	32,635,412 (GRCm39)	nonsense	probably null
IGL01881:Ppp1cb	APN	5	32,635,487 (GRCm39)	missense	probably benign	0.15
IGL02210:Ppp1cb	APN	5	32,640,818 (GRCm39)	splice site	probably benign
R0081:Ppp1cb	UTSW	5	32,644,958 (GRCm39)	missense	probably damaging	1.00
R0124:Ppp1cb	UTSW	5	32,640,822 (GRCm39)	splice site	probably benign
R1137:Ppp1cb	UTSW	5	32,645,015 (GRCm39)	missense	probably damaging	1.00
R5371:Ppp1cb	UTSW	5	32,643,332 (GRCm39)	missense	probably damaging	1.00
R5931:Ppp1cb	UTSW	5	32,640,810 (GRCm39)	critical splice donor site	probably null
R6299:Ppp1cb	UTSW	5	32,640,798 (GRCm39)	nonsense	probably null
R6781:Ppp1cb	UTSW	5	32,638,106 (GRCm39)	missense	probably damaging	1.00
R7238:Ppp1cb	UTSW	5	32,648,376 (GRCm39)	missense	probably benign
R9061:Ppp1cb	UTSW	5	32,635,492 (GRCm39)	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- CAGTGCATGAAACTGAACATAGC -3'
(R):5'- AGCTTTCCCACAGTACTGTC -3'

Sequencing Primer
(F):5'- TGCTCTCTTATAGAACCCAAGACTG -3'
(R):5'- TCCCACAGTACTGTCATTATTACAG -3'

Posted On

2014-10-02