Mutagenetix > Incidental Mutation

Incidental Mutation 'R5738:Ppm1b'

444651

Institutional Source

Beutler Lab

Gene Symbol

Ppm1b

Ensembl Gene

ENSMUSG00000061130

Gene Name

protein phosphatase 1B, magnesium dependent, beta isoform

Synonyms

PP2CB

MMRRC Submission

043350-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5738 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85264169-85331419 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85301374 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 85 (F85L)

Ref Sequence

ENSEMBL: ENSMUSP00000107926 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080217] [ENSMUST00000112304] [ENSMUST00000112305] [ENSMUST00000112307]

AlphaFold

P36993

Predicted Effect

probably benign
Transcript: ENSMUST00000080217
AA Change: F85L

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000079107
Gene: ENSMUSG00000061130
AA Change: F85L

Domain	Start	End	E-Value	Type
PP2Cc	13	293	1.57e-97	SMART
PP2C_SIG	38	295	2.6e-1	SMART
Blast:PP2Cc	296	341	9e-16	BLAST
low complexity region	424	446	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112304
AA Change: F85L

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000107923
Gene: ENSMUSG00000061130
AA Change: F85L

Domain	Start	End	E-Value	Type
PP2Cc	13	293	1.57e-97	SMART
PP2C_SIG	38	295	2.6e-1	SMART
Blast:PP2Cc	296	341	6e-16	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000112305
AA Change: F85L

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000107924
Gene: ENSMUSG00000061130
AA Change: F85L

Domain	Start	End	E-Value	Type
PP2Cc	13	293	1.57e-97	SMART
PP2C_SIG	38	295	2.6e-1	SMART
Blast:PP2Cc	296	341	6e-16	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000112307
AA Change: F85L

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000107926
Gene: ENSMUSG00000061130
AA Change: F85L

Domain	Start	End	E-Value	Type
PP2Cc	13	293	1.57e-97	SMART
PP2C_SIG	38	295	2.6e-1	SMART
Blast:PP2Cc	296	341	5e-16	BLAST

Meta Mutation Damage Score

0.2127

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

98% (52/53)

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 a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase has been shown to dephosphorylate cyclin-dependent kinases (CDKs), and thus may be involved in cell cycle control. Overexpression of this phosphatase is reported to cause cell-growth arrest or cell death. Alternative splicing results in multiple transcript variants encoding different isoforms. Additional transcript variants have been described, but currently do not represent full-length sequences. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous KO results in early pre-implantation lethality. A hypomorphic mutation results in increased sensitivity to Tnf-induced necroptosis and early death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,571,917 (GRCm39)	D4826V	probably damaging	Het
Acoxl	G	A	2: 127,719,686 (GRCm39)	C149Y	probably benign	Het
Adamts3	G	T	5: 89,856,527 (GRCm39)	H349N	probably damaging	Het
Ap2b1	A	G	11: 83,227,256 (GRCm39)		probably null	Het
Ap3m2	T	C	8: 23,293,877 (GRCm39)	S58G	possibly damaging	Het
Bhmt2	A	T	13: 93,799,798 (GRCm39)	W213R	probably benign	Het
Cacna1h	T	G	17: 25,606,023 (GRCm39)	D1092A	probably damaging	Het
Cbfb	A	C	8: 105,929,193 (GRCm39)	Q170P	probably damaging	Het
Ccdc73	A	C	2: 104,761,331 (GRCm39)	K110N	possibly damaging	Het
Cep350	C	A	1: 155,741,824 (GRCm39)	R2149L	probably damaging	Het
Cog2	A	G	8: 125,272,777 (GRCm39)	T525A	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Fbxl5	A	G	5: 43,920,170 (GRCm39)	I251T	probably benign	Het
Fscn3	A	G	6: 28,430,030 (GRCm39)	K67E	possibly damaging	Het
Glmp	T	A	3: 88,233,445 (GRCm39)	N133K	probably benign	Het
Gpr179	T	C	11: 97,242,232 (GRCm39)	N204S	probably damaging	Het
Gtf2ird1	C	T	5: 134,412,672 (GRCm39)	R613Q	probably damaging	Het
Hepacam	A	G	9: 37,294,721 (GRCm39)	D285G	possibly damaging	Het
Hipk4	G	A	7: 27,227,841 (GRCm39)	V196M	probably damaging	Het
Hlx	A	T	1: 184,463,754 (GRCm39)		probably null	Het
Igf2r	A	T	17: 12,936,254 (GRCm39)	D597E	probably benign	Het
Ighm	T	C	12: 113,385,115 (GRCm39)	T282A	unknown	Het
Igsf9b	T	C	9: 27,239,826 (GRCm39)	C624R	probably damaging	Het
Ksr2	T	C	5: 117,886,864 (GRCm39)	V800A	probably damaging	Het
Lyn	A	T	4: 3,782,987 (GRCm39)	I386F	probably damaging	Het
Melk	A	G	4: 44,310,333 (GRCm39)	D102G	probably damaging	Het
Mettl1	G	T	10: 126,877,863 (GRCm39)	E4*	probably null	Het
Mybl2	C	T	2: 162,910,203 (GRCm39)	Q210*	probably null	Het
Naga	C	T	15: 82,219,054 (GRCm39)	W231*	probably null	Het
Or2y3	T	C	17: 38,393,347 (GRCm39)	Y174C	probably damaging	Het
Or4k2	C	T	14: 50,424,105 (GRCm39)	V190I	probably benign	Het
Or7g16	T	C	9: 18,727,125 (GRCm39)	N155S	possibly damaging	Het
Otud4	T	C	8: 80,400,090 (GRCm39)	S935P	probably benign	Het
P2rx7	C	T	5: 122,790,852 (GRCm39)	T63I	probably damaging	Het
Pga5	A	T	19: 10,647,024 (GRCm39)	N260K	probably benign	Het
Phka2	ACC	AC	X: 159,342,862 (GRCm39)		probably null	Het
Plch1	T	A	3: 63,681,076 (GRCm39)	R184W	probably damaging	Het
Prtg	T	A	9: 72,819,288 (GRCm39)	F1094I	probably benign	Het
Ralgds	G	A	2: 28,432,538 (GRCm39)		probably benign	Het
Rgs17	A	C	10: 5,783,140 (GRCm39)	V149G	probably damaging	Het
Rnf168	A	G	16: 32,101,192 (GRCm39)	E124G	probably damaging	Het
Sav1	T	C	12: 70,022,817 (GRCm39)	E245G	possibly damaging	Het
Slc25a19	T	C	11: 115,515,060 (GRCm39)	I33V	probably benign	Het
Sptbn1	T	C	11: 30,095,941 (GRCm39)	I318V	probably damaging	Het
Tas2r136	A	G	6: 132,754,707 (GRCm39)	L140P	probably damaging	Het
Tbc1d9	A	G	8: 83,997,655 (GRCm39)	I1071V	probably benign	Het
Tecta	G	T	9: 42,284,474 (GRCm39)	N870K	possibly damaging	Het
Tmem230	G	A	2: 132,086,048 (GRCm39)	P38L	possibly damaging	Het
Trpa1	G	T	1: 14,946,174 (GRCm39)	H986N	probably damaging	Het
Wdr41	A	T	13: 95,114,996 (GRCm39)	I24L	possibly damaging	Het

Other mutations in Ppm1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00500:Ppm1b	APN	17	85,310,712 (GRCm39)	missense	probably damaging	1.00
IGL01923:Ppm1b	APN	17	85,301,489 (GRCm39)	missense	probably damaging	0.98
IGL02974:Ppm1b	APN	17	85,301,252 (GRCm39)	missense	possibly damaging	0.92
R0190:Ppm1b	UTSW	17	85,301,531 (GRCm39)	missense	probably damaging	1.00
R0576:Ppm1b	UTSW	17	85,320,987 (GRCm39)	splice site	probably null
R1848:Ppm1b	UTSW	17	85,301,552 (GRCm39)	missense	probably benign	0.00
R2018:Ppm1b	UTSW	17	85,301,630 (GRCm39)	missense	probably damaging	1.00
R2179:Ppm1b	UTSW	17	85,301,862 (GRCm39)	missense	probably damaging	1.00
R3053:Ppm1b	UTSW	17	85,321,274 (GRCm39)	missense	probably benign	0.00
R3085:Ppm1b	UTSW	17	85,321,288 (GRCm39)	missense	probably benign
R4387:Ppm1b	UTSW	17	85,322,847 (GRCm39)	missense	probably benign
R5353:Ppm1b	UTSW	17	85,301,537 (GRCm39)	missense	probably benign	0.17
R5818:Ppm1b	UTSW	17	85,301,147 (GRCm39)	missense	probably benign	0.01
R7588:Ppm1b	UTSW	17	85,320,997 (GRCm39)	missense	probably benign	0.00
R8496:Ppm1b	UTSW	17	85,301,660 (GRCm39)	missense	probably damaging	1.00
R9557:Ppm1b	UTSW	17	85,301,501 (GRCm39)	missense	probably benign	0.00
Z1176:Ppm1b	UTSW	17	85,301,693 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTATGGCCTGAGCAGTATGC -3'
(R):5'- CAGAACAGCTCGAGAGTCAC -3'

Sequencing Primer
(F):5'- CCTGAGCAGTATGCAAGGATG -3'
(R):5'- CTCGAGAGTCACCACAGTTGATG -3'

Posted On

2016-11-21