Mutagenetix > Incidental Mutation

Incidental Mutation 'R3085:Ppm1b'

265611

Institutional Source

Beutler Lab

Gene Symbol

Ppm1b

Ensembl Gene

ENSMUSG00000061130

Gene Name

protein phosphatase 1B, magnesium dependent, beta isoform

Synonyms

PP2CB

MMRRC Submission

040574-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3085 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85264169-85331419 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85321288 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 477 (I477L)

Ref Sequence

ENSEMBL: ENSMUSP00000079107 (fasta)

Gene Model

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

AlphaFold

P36993

Predicted Effect

probably benign
Transcript: ENSMUST00000080217
AA Change: I477L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000079107
Gene: ENSMUSG00000061130
AA Change: I477L

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

SMART Domains

Protein: ENSMUSP00000107923
Gene: ENSMUSG00000061130

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

SMART Domains

Protein: ENSMUSP00000107924
Gene: ENSMUSG00000061130

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

SMART Domains

Protein: ENSMUSP00000107926
Gene: ENSMUSG00000061130

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

0.0608

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (63/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	A	8: 87,270,536 (GRCm39)		probably benign	Het
Adrm1	T	C	2: 179,816,094 (GRCm39)		probably null	Het
Aldh18a1	T	C	19: 40,562,813 (GRCm39)	I76V	probably benign	Het
Atp1b2	T	C	11: 69,493,705 (GRCm39)	K125E	possibly damaging	Het
Cabyr	T	C	18: 12,884,023 (GRCm39)	V170A	probably damaging	Het
Cdh8	T	C	8: 99,923,018 (GRCm39)	T293A	probably benign	Het
Cenpc1	A	T	5: 86,185,476 (GRCm39)	V345D	probably benign	Het
Col4a3	A	G	1: 82,628,979 (GRCm39)	E131G	unknown	Het
Col4a4	C	T	1: 82,507,285 (GRCm39)		probably null	Het
Creb3l1	G	T	2: 91,825,789 (GRCm39)		probably null	Het
Dhx9	T	C	1: 153,341,445 (GRCm39)	D601G	probably benign	Het
Dipk1a	G	T	5: 108,062,290 (GRCm39)	D28E	probably damaging	Het
Dnaaf4	T	A	9: 72,879,688 (GRCm39)	N289K	probably benign	Het
Eml6	T	C	11: 29,759,332 (GRCm39)	E807G	probably damaging	Het
Exog	C	A	9: 119,291,518 (GRCm39)	T241K	probably benign	Het
Eya1	T	C	1: 14,344,314 (GRCm39)	D109G	probably benign	Het
Fat2	C	T	11: 55,142,997 (GRCm39)	R4284H	possibly damaging	Het
Fbxw13	C	A	9: 109,013,299 (GRCm39)	G130*	probably null	Het
Fcrl5	A	G	3: 87,353,771 (GRCm39)	Y372C	probably damaging	Het
Gli3	T	C	13: 15,835,526 (GRCm39)	S435P	probably damaging	Het
Gsg1l	C	T	7: 125,490,852 (GRCm39)	R284H	probably benign	Het
Havcr1	C	T	11: 46,647,052 (GRCm39)	T162I	probably damaging	Het
Igdcc4	T	C	9: 65,039,340 (GRCm39)	F947S	probably damaging	Het
Irx1	G	T	13: 72,111,411 (GRCm39)	A66E	probably damaging	Het
Klf11	T	C	12: 24,705,490 (GRCm39)	S315P	probably benign	Het
Kynu	A	G	2: 43,492,312 (GRCm39)	M190V	probably benign	Het
Lrp2	T	C	2: 69,297,479 (GRCm39)	T3161A	probably benign	Het
Macrod1	G	T	19: 7,173,859 (GRCm39)	A208S	probably damaging	Het
Mamdc2	G	A	19: 23,288,296 (GRCm39)	H581Y	possibly damaging	Het
Megf8	T	A	7: 25,048,444 (GRCm39)	Y1706N	probably damaging	Het
Mthfd1l	G	A	10: 4,040,007 (GRCm39)	R806H	probably benign	Het
Nags	T	A	11: 102,036,810 (GRCm39)	V133D	probably damaging	Het
Nrg3	C	A	14: 38,092,906 (GRCm39)	D560Y	probably damaging	Het
Or4f60	C	A	2: 111,902,320 (GRCm39)	G203*	probably null	Het
Or4k36	A	G	2: 111,146,461 (GRCm39)	I212M	probably benign	Het
Or4p23	A	G	2: 88,576,488 (GRCm39)	F248S	probably damaging	Het
Or5af2	T	C	11: 58,708,553 (GRCm39)	S240P	probably damaging	Het
Orc4	G	A	2: 48,827,501 (GRCm39)	P31S	probably benign	Het
Pde6d	T	C	1: 86,475,248 (GRCm39)		probably null	Het
Plekhf1	T	C	7: 37,921,001 (GRCm39)	E189G	probably benign	Het
Rad51ap2	C	A	12: 11,506,758 (GRCm39)	Q227K	possibly damaging	Het
Rnf125	T	C	18: 21,110,787 (GRCm39)	V15A	probably benign	Het
Rnps1	C	T	17: 24,631,393 (GRCm39)		probably benign	Het
Robo1	A	G	16: 72,798,898 (GRCm39)	I953V	possibly damaging	Het
Sash1	A	T	10: 8,618,186 (GRCm39)		probably null	Het
Smarcc2	T	C	10: 128,324,028 (GRCm39)		probably benign	Het
Stx12	T	A	4: 132,584,672 (GRCm39)	E224V	probably damaging	Het
Sun1	T	C	5: 139,221,356 (GRCm39)	V357A	probably benign	Het
Synpo2l	T	C	14: 20,712,248 (GRCm39)	D350G	probably damaging	Het
Tex15	A	T	8: 34,064,913 (GRCm39)	N1448Y	probably benign	Het
Tfpi	A	G	2: 84,273,227 (GRCm39)		probably benign	Het
Tktl2	T	A	8: 66,965,858 (GRCm39)	M472K	possibly damaging	Het
Tmem40	T	C	6: 115,718,576 (GRCm39)	D43G	possibly damaging	Het
Tshz2	T	A	2: 169,725,871 (GRCm39)	C156S	probably benign	Het
Vmn2r101	T	A	17: 19,809,077 (GRCm39)		probably null	Het
Vmn2r85	T	C	10: 130,261,081 (GRCm39)	M419V	probably benign	Het
Wdr73	G	A	7: 80,550,990 (GRCm39)		probably benign	Het
Zc3hc1	C	T	6: 30,374,763 (GRCm39)		probably null	Het
Zfhx3	T	C	8: 109,682,664 (GRCm39)	Y3368H	unknown	Het
Zfp263	G	A	16: 3,567,580 (GRCm39)	E632K	probably damaging	Het
Zfp266	A	G	9: 20,412,240 (GRCm39)	L111P	probably damaging	Het
Zfp626	T	A	7: 27,517,587 (GRCm39)	S189R	probably benign	Het
Zfp772	T	C	7: 7,206,699 (GRCm39)	R331G	possibly damaging	Het
Zkscan5	G	A	5: 145,157,889 (GRCm39)	C797Y	probably 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
R4387:Ppm1b	UTSW	17	85,322,847 (GRCm39)	missense	probably benign
R5353:Ppm1b	UTSW	17	85,301,537 (GRCm39)	missense	probably benign	0.17
R5738:Ppm1b	UTSW	17	85,301,374 (GRCm39)	missense	probably benign	0.14
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'- GAGTTAACCATAGGGGAAACTACC -3'
(R):5'- ATCATAAAGGTGTATGCAAAGGCC -3'

Sequencing Primer
(F):5'- ATGCTGACTAGTTACAGGCTAGC -3'
(R):5'- AGCACACAGTATACTTCCT -3'

Posted On

2015-02-05