Mutagenetix > Incidental Mutation

Incidental Mutation 'R6992:Ppm1d'

543920

Institutional Source

Beutler Lab

Gene Symbol

Ppm1d

Ensembl Gene

ENSMUSG00000020525

Gene Name

protein phosphatase 1D magnesium-dependent, delta isoform

Synonyms

Wip1

MMRRC Submission

045098-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6992 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85311244-85347066 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85332352 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 261 (F261S)

Ref Sequence

ENSEMBL: ENSMUSP00000020835 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020835] [ENSMUST00000127717]

AlphaFold

Q9QZ67

Predicted Effect

probably damaging
Transcript: ENSMUST00000020835
AA Change: F261S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020835
Gene: ENSMUSG00000020525
AA Change: F261S

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000115606
Gene: ENSMUSG00000020525
AA Change: F116S

Domain	Start	End	E-Value	Type
PP2Cc	1	170	2.87e-5	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (64/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700057G04Rik	T	C	9: 92,354,672	M128T	probably benign	Het
4921539E11Rik	C	T	4: 103,242,793	S171N	possibly damaging	Het
6030468B19Rik	T	G	11: 117,797,768	M1R	probably null	Het
9530053A07Rik	T	A	7: 28,140,183	F474I	probably benign	Het
A730049H05Rik	T	C	6: 92,827,994		probably benign	Het
AC125199.3	G	T	16: 88,812,027	H52Q	possibly damaging	Het
Adam34	A	T	8: 43,652,605	M1K	probably null	Het
Adgrf5	T	C	17: 43,452,323		probably null	Het
Antxr2	T	C	5: 97,960,705	T316A	probably benign	Het
Cc2d1a	A	T	8: 84,134,913	V714D	probably damaging	Het
Cd96	A	G	16: 46,049,724	S461P	possibly damaging	Het
Cdc16	C	A	8: 13,759,188	A51E	probably benign	Het
Chd4	T	A	6: 125,114,376	D1243E	probably benign	Het
Cntf	A	T	19: 12,765,333	I21N	probably damaging	Het
Col11a2	C	T	17: 34,047,144	A282V	probably benign	Het
Col14a1	T	A	15: 55,411,562		probably null	Het
Cyp2b9	T	C	7: 26,201,139	Y401H	probably benign	Het
Dlgap4	A	G	2: 156,748,940		probably null	Het
Fancd2	T	C	6: 113,571,018		probably null	Het
Frem1	A	G	4: 82,940,362	V1622A	possibly damaging	Het
Golm1	ACTTCTTCT	ACTTCT	13: 59,649,576		probably benign	Het
Gstm4	A	G	3: 108,044,665	M3T	possibly damaging	Het
Hdac10	T	C	15: 89,125,331	D466G	probably benign	Het
Hook2	A	G	8: 85,002,556	E625G	probably damaging	Het
Hspbp1	G	C	7: 4,664,715	P260A	probably benign	Het
Igdcc3	C	A	9: 65,181,571	Q411K	probably damaging	Het
Il18rap	G	A	1: 40,542,035	E356K	probably benign	Het
Inpp4a	A	T	1: 37,389,691	M699L	probably damaging	Het
Klhdc1	A	G	12: 69,253,757	H157R	probably damaging	Het
Klhl6	G	T	16: 19,953,587	T336N	probably damaging	Het
March7	T	C	2: 60,229,084		probably null	Het
Mast4	C	T	13: 102,804,647	V301I	probably damaging	Het
Mlh3	T	A	12: 85,235,720	N1412Y	probably damaging	Het
Mrps27	A	G	13: 99,405,014	M209V	probably benign	Het
Mtor	A	T	4: 148,464,475	T572S	probably benign	Het
Neurog1	T	C	13: 56,251,550	K128R	probably damaging	Het
Olfr124	T	A	17: 37,805,863	N239K	probably damaging	Het
Olfr1484	A	G	19: 13,585,447	I48V	possibly damaging	Het
Olfr981	T	A	9: 40,022,600	L69*	probably null	Het
Pcdhgb1	A	G	18: 37,681,599	K381R	probably benign	Het
Pdzd2	T	C	15: 12,457,859	D306G	probably damaging	Het
Plekha5	C	T	6: 140,543,908	T237I	probably damaging	Het
Pole	A	T	5: 110,332,499	I103F	probably damaging	Het
Ppfia2	A	T	10: 106,474,854	Q74L	possibly damaging	Het
Psg21	A	T	7: 18,654,743		probably null	Het
Ptprg	T	A	14: 11,962,602	F133L	probably damaging	Het
Rom1	G	A	19: 8,929,205		probably benign	Het
Rtn3	A	G	19: 7,435,124	F762L	probably damaging	Het
Sec23ip	T	C	7: 128,765,440	S600P	probably benign	Het
Sema4b	T	A	7: 80,220,152	I396N	probably damaging	Het
Serpina3k	T	A	12: 104,341,107	D199E	probably benign	Het
Slc19a1	A	G	10: 77,049,706	D480G	possibly damaging	Het
Slc8b1	G	A	5: 120,527,815	V404M	probably damaging	Het
Slco1a4	T	C	6: 141,819,604	D304G	probably benign	Het
Smpdl3b	G	T	4: 132,745,141	A107D	possibly damaging	Het
Tesk1	A	G	4: 43,447,006	T465A	probably benign	Het
Tmem245	A	G	4: 56,937,940	F203L	probably benign	Het
Tnip1	T	A	11: 54,918,716	I442F	probably benign	Het
Txnip	A	G	3: 96,559,123	K127R	possibly damaging	Het
Usp32	A	C	11: 85,032,088	L172R	probably damaging	Het
Vmn2r66	A	G	7: 85,005,228	S508P	possibly damaging	Het
Vwa5b2	T	A	16: 20,598,202	Y550N	probably damaging	Het
Wdr81	G	A	11: 75,451,786	A885V	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
R0606:Ppm1d	UTSW	11	85345877	missense	probably benign	0.27
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
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'- GCAAGAACCTTGGCTTATGATATC -3'
(R):5'- GCAGTGCTGAAATACAGGCTTTAC -3'

Sequencing Primer
(F):5'- AACCTTGGCTTATGATATCTTTGTAC -3'
(R):5'- ACCTCTTCCCTCGCATTTAAAATAC -3'

Posted On

2019-05-13