Mutagenetix > Incidental Mutation

Incidental Mutation 'R0606:Ppm1d'

54165

Institutional Source

Beutler Lab

Gene Symbol

Ppm1d

Ensembl Gene

ENSMUSG00000020525

Gene Name

protein phosphatase 1D magnesium-dependent, delta isoform

Synonyms

Wip1

MMRRC Submission

038795-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0606 (G1)

Quality Score

204

Status

Validated

Chromosome

Chromosomal Location

85311244-85347066 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 85345877 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 494 (T494I)

Ref Sequence

ENSEMBL: ENSMUSP00000020835 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020835]

AlphaFold

Q9QZ67

Predicted Effect

probably benign
Transcript: ENSMUST00000020835
AA Change: T494I

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000020835
Gene: ENSMUSG00000020525
AA Change: T494I

Domain	Start	End	E-Value	Type
PP2Cc	1	366	1.4e-76	SMART
PP2C_SIG	78	368	6.09e0	SMART
low complexity region	403	415	N/A	INTRINSIC
Blast:PP2Cc	416	476	1e-19	BLAST

Meta Mutation Damage Score

0.0647

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.3%
20x: 94.2%

Validation Efficiency

98% (99/101)

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. The expression of this gene is induced in a p53-dependent manner in response to various environmental stresses. While being induced by tumor suppressor protein TP53/p53, this phosphatase negatively regulates the activity of p38 MAP kinase, MAPK/p38, through which it reduces the phosphorylation of p53, and in turn suppresses p53-mediated transcription and apoptosis. This phosphatase thus mediates a feedback regulation of p38-p53 signaling that contributes to growth inhibition and the suppression of stress induced apoptosis. This gene is located in a chromosomal region known to be amplified in breast cancer. The amplification of this gene has been detected in both breast cancer cell line and primary breast tumors, which suggests a role of this gene in cancer development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null male mice show some embryonic lethality. Surviving males have variable abnormalities including runting, reproductive organ atrophy with associated reduced fertility, and reduced life span. Both genders have increased susceptibility to viral infection and reduced lymphocyte function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410131K14Rik	T	C	5: 118,259,089	Y128H	probably damaging	Het
Actl9	T	C	17: 33,433,598	Y211H	probably damaging	Het
Actn1	A	T	12: 80,174,647		probably benign	Het
Adtrp	A	G	13: 41,767,405	F197L	probably damaging	Het
Ankrd11	G	A	8: 122,892,832	T1406I	probably benign	Het
Arhgap24	A	T	5: 102,897,220	R620W	probably damaging	Het
Atg13	A	G	2: 91,682,073	Y284H	probably benign	Het
Atrn	A	G	2: 130,906,856	E99G	possibly damaging	Het
Cage1	A	T	13: 38,016,494		probably benign	Het
Ccr3	T	A	9: 124,028,802	M58K	probably benign	Het
Cdk18	G	T	1: 132,117,617		probably benign	Het
Chst5	A	G	8: 111,890,919	V23A	probably benign	Het
Col4a3	T	C	1: 82,672,586		probably benign	Het
Col4a6	A	G	X: 141,192,223		probably benign	Het
Csmd3	T	C	15: 48,457,662	I251V	probably benign	Het
Csnk1g3	G	A	18: 53,917,028	V115M	probably damaging	Het
Cst7	A	T	2: 150,570,519	M1L	probably benign	Het
Cyp4f17	A	T	17: 32,527,843	D373V	probably damaging	Het
Dclk2	G	A	3: 86,906,004	R212W	probably damaging	Het
Dhrs7b	T	G	11: 60,830,746		probably benign	Het
Dhx58	T	A	11: 100,702,251	H210L	probably benign	Het
Dnah9	T	C	11: 65,841,333	Y4249C	probably damaging	Het
Eif5b	T	A	1: 38,048,893	L990H	probably damaging	Het
Faap24	T	C	7: 35,394,963		probably benign	Het
Fryl	T	A	5: 73,124,734	H174L	probably benign	Het
Gabrr1	T	C	4: 33,132,696	W15R	probably benign	Het
Gif	A	T	19: 11,752,294	I206F	possibly damaging	Het
Gm15446	T	C	5: 109,943,481	V533A	probably benign	Het
Gm6760	T	A	X: 64,151,653	K63*	probably null	Het
Gne	C	T	4: 44,042,244	E444K	possibly damaging	Het
Gpr173	T	A	X: 152,347,040	M146L	possibly damaging	Het
Hira	C	T	16: 18,935,047	S547L	probably benign	Het
Hnf1b	A	G	11: 83,863,984	H161R	probably benign	Het
Hnrnpm	T	A	17: 33,658,390	N53I	probably damaging	Het
Hs3st5	A	T	10: 36,832,588	I40F	probably benign	Het
Hydin	C	T	8: 110,549,798		probably benign	Het
Ift172	A	G	5: 31,254,313	I1607T	probably damaging	Het
Igfn1	T	C	1: 135,959,901	Q2475R	probably damaging	Het
Il6st	T	C	13: 112,504,272	S800P	possibly damaging	Het
Iqub	G	A	6: 24,501,261		probably benign	Het
Itgb1	A	T	8: 128,722,372		probably benign	Het
Kctd21	G	A	7: 97,347,601	E94K	probably benign	Het
Kir3dl2	A	G	X: 136,453,511	V233A	possibly damaging	Het
Klra2	A	T	6: 131,220,224	C271S	probably damaging	Het
Lacc1	A	T	14: 77,029,621	C401S	probably damaging	Het
Lmna	T	C	3: 88,482,578	E580G	probably damaging	Het
Matn2	A	G	15: 34,345,150	Y101C	probably damaging	Het
Mrps16	G	A	14: 20,391,389	R116*	probably null	Het
Ndrg2	G	T	14: 51,906,217	R333S	probably damaging	Het
Nf2	A	G	11: 4,782,194	I507T	possibly damaging	Het
Nktr	A	G	9: 121,749,290		probably benign	Het
Nkx3-1	G	A	14: 69,191,006		probably benign	Het
Npat	T	C	9: 53,556,481		probably null	Het
Nrxn1	T	C	17: 90,565,373	N1047S	probably damaging	Het
Nup210	A	T	6: 91,026,929	I1402N	possibly damaging	Het
Olfr1168	G	T	2: 88,185,280	M134I	possibly damaging	Het
Parp14	G	A	16: 35,856,760	A946V	probably benign	Het
Pdcl2	C	T	5: 76,312,481	S182N	probably benign	Het
Pdia3	G	A	2: 121,432,377	G275S	probably damaging	Het
Pla2g4a	A	G	1: 149,840,704	F669L	probably benign	Het
Plekha8	A	G	6: 54,629,820	K367E	probably damaging	Het
Pola1	A	G	X: 93,488,087		probably benign	Het
Pramef25	T	A	4: 143,949,883	Y217F	probably benign	Het
Prl6a1	A	T	13: 27,314,194		probably benign	Het
Ptprg	T	A	14: 12,154,131	S617R	probably benign	Het
R3hdm2	G	A	10: 127,444,444	G45D	probably damaging	Het
Rev1	T	A	1: 38,059,123	R780W	probably null	Het
Rnf139	T	A	15: 58,899,827	F567Y	probably damaging	Het
Scarf1	T	C	11: 75,514,348	V71A	probably damaging	Het
Shtn1	A	G	19: 58,999,940	S438P	probably damaging	Het
Slc30a3	T	A	5: 31,088,723	H221L	probably benign	Het
Smo	A	C	6: 29,753,604	I160L	possibly damaging	Het
Snapc5	A	T	9: 64,179,300		probably benign	Het
Snf8	G	T	11: 96,034,973		probably benign	Het
Spata31d1a	T	C	13: 59,702,431	S628G	probably benign	Het
Sphkap	A	T	1: 83,280,424	D199E	probably damaging	Het
Stxbp5l	T	C	16: 37,204,521	T572A	possibly damaging	Het
Thada	C	A	17: 84,416,303	V1108L	possibly damaging	Het
Tln1	T	C	4: 43,547,756	Q735R	probably benign	Het
Tmem29	C	T	X: 150,398,364	A144T	probably benign	Het
Trim24	G	A	6: 37,871,234	E42K	probably benign	Het
Trnt1	T	A	6: 106,777,908		probably benign	Het
Ttbk2	A	T	2: 120,773,872	M215K	probably damaging	Het
Ttc8	C	T	12: 98,943,459		probably benign	Het
Ube3c	A	G	5: 29,590,928	Y105C	probably damaging	Het
Unc13c	A	G	9: 73,530,983		probably benign	Het
Usp36	A	G	11: 118,263,028		probably benign	Het
Vmn2r102	T	C	17: 19,678,844	S483P	possibly damaging	Het
Wdr95	A	G	5: 149,588,130	T432A	probably damaging	Het
Wnk1	G	T	6: 119,926,683	P2523H	probably damaging	Het
Xpo4	A	G	14: 57,638,208		probably benign	Het
Zar1	G	T	5: 72,580,543	P71Q	probably damaging	Het
Zbtb41	T	C	1: 139,423,610	Y154H	probably benign	Het
Zer1	G	T	2: 30,104,797		probably benign	Het
Zfp454	A	G	11: 50,874,185	F140S	probably benign	Het

Other mutations in Ppm1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02095:Ppm1d	APN	11	85327006	missense	probably benign	0.04
IGL02351:Ppm1d	APN	11	85345715	missense	probably damaging	0.99
IGL02358:Ppm1d	APN	11	85345715	missense	probably damaging	0.99
IGL02496:Ppm1d	APN	11	85339666	missense	possibly damaging	0.51
IGL02667:Ppm1d	APN	11	85332285	missense	probably damaging	1.00
IGL02885:Ppm1d	APN	11	85326944	missense	possibly damaging	0.52
IGL03085:Ppm1d	APN	11	85337163	missense	probably null	0.80
R0114:Ppm1d	UTSW	11	85326905	missense	probably damaging	1.00
R1014:Ppm1d	UTSW	11	85337154	missense	probably damaging	0.98
R1548:Ppm1d	UTSW	11	85339605	missense	probably damaging	1.00
R3774:Ppm1d	UTSW	11	85337167	missense	probably damaging	1.00
R3775:Ppm1d	UTSW	11	85337167	missense	probably damaging	1.00
R4025:Ppm1d	UTSW	11	85345757	missense	probably benign	0.09
R4065:Ppm1d	UTSW	11	85345852	missense	probably benign	0.01
R4067:Ppm1d	UTSW	11	85345852	missense	probably benign	0.01
R4118:Ppm1d	UTSW	11	85311582	missense	probably benign	0.01
R5169:Ppm1d	UTSW	11	85332370	missense	probably damaging	1.00
R5384:Ppm1d	UTSW	11	85311783	missense	probably damaging	0.98
R5861:Ppm1d	UTSW	11	85311848	missense	possibly damaging	0.70
R5890:Ppm1d	UTSW	11	85326908	missense	probably damaging	1.00
R6394:Ppm1d	UTSW	11	85339672	missense	probably benign
R6992:Ppm1d	UTSW	11	85332352	missense	probably damaging	1.00
R7006:Ppm1d	UTSW	11	85337151	missense	possibly damaging	0.92
R7297:Ppm1d	UTSW	11	85345995	missense	probably damaging	1.00
R7993:Ppm1d	UTSW	11	85326951	missense	probably damaging	1.00
R8099:Ppm1d	UTSW	11	85339666	missense	possibly damaging	0.51
R8697:Ppm1d	UTSW	11	85337160	missense	possibly damaging	0.95
R8738:Ppm1d	UTSW	11	85345906	missense	probably damaging	0.99
R9018:Ppm1d	UTSW	11	85337135	missense	probably damaging	0.98
R9188:Ppm1d	UTSW	11	85345921	missense	possibly damaging	0.93
Z1176:Ppm1d	UTSW	11	85339573	missense	probably benign	0.09
Z1177:Ppm1d	UTSW	11	85326963	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCCCTTGTTCGCAGTAATGCC -3'
(R):5'- TCAGGGTCAGTTTGACAGAGTGCC -3'

Sequencing Primer
(F):5'- CGCAGTAATGCCTTCTCAGAG -3'
(R):5'- ACAGAGTGCCTGCGCTG -3'

Posted On

2013-07-11