Mutagenetix > Incidental Mutation

Incidental Mutation 'R0114:Ppm1d'

20673

Institutional Source

Beutler Lab

Gene Symbol

Ppm1d

Ensembl Gene

ENSMUSG00000020525

Gene Name

protein phosphatase 1D magnesium-dependent, delta isoform

Synonyms

Wip1

MMRRC Submission

038400-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0114 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

85202080-85237897 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 85217731 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 20 (G20R)

Ref Sequence

ENSEMBL: ENSMUSP00000115606 (fasta)

Gene Model

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

AlphaFold

Q9QZ67

Predicted Effect

probably damaging
Transcript: ENSMUST00000020835
AA Change: G165R

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

SMART Domains

Protein: ENSMUSP00000020835
Gene: ENSMUSG00000020525
AA Change: G165R

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

probably damaging
Transcript: ENSMUST00000127717
AA Change: G20R

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

SMART Domains

Protein: ENSMUSP00000115606
Gene: ENSMUSG00000020525
AA Change: G20R

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

Meta Mutation Damage Score

0.9749

Coding Region Coverage

1x: 98.6%
3x: 97.4%
10x: 93.2%
20x: 79.2%

Validation Efficiency

100% (99/99)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	T	C	10: 28,861,978 (GRCm39)		probably benign	Het
4933427D14Rik	T	C	11: 72,086,625 (GRCm39)	Y262C	probably damaging	Het
Adamts1	C	A	16: 85,596,502 (GRCm39)	V379L	probably benign	Het
Akt3	T	C	1: 176,894,817 (GRCm39)	D260G	probably damaging	Het
Alms1	T	C	6: 85,596,785 (GRCm39)	L537P	probably benign	Het
Anln	A	T	9: 22,264,642 (GRCm39)	I876N	probably damaging	Het
Ano9	A	T	7: 140,683,152 (GRCm39)		probably benign	Het
Arhgef10l	T	C	4: 140,311,194 (GRCm39)	E218G	probably benign	Het
Arnt2	G	A	7: 83,996,738 (GRCm39)	R63C	probably damaging	Het
Atp9a	G	T	2: 168,552,776 (GRCm39)	Y63*	probably null	Het
Bmpr2	G	T	1: 59,854,499 (GRCm39)	C116F	probably damaging	Het
Cand1	T	C	10: 119,052,427 (GRCm39)	D233G	probably benign	Het
Cftr	A	T	6: 18,282,447 (GRCm39)	H1049L	probably damaging	Het
Ckap5	A	T	2: 91,450,457 (GRCm39)	D1975V	possibly damaging	Het
Cyp26c1	T	C	19: 37,675,081 (GRCm39)	V134A	probably benign	Het
Dnai1	T	C	4: 41,605,686 (GRCm39)		probably benign	Het
Dpp10	T	C	1: 123,413,821 (GRCm39)	I163V	probably benign	Het
Fam151a	A	T	4: 106,591,201 (GRCm39)	I15F	possibly damaging	Het
Fanca	A	T	8: 124,015,230 (GRCm39)		probably null	Het
Fes	A	G	7: 80,027,783 (GRCm39)	V787A	probably damaging	Het
Fnip1	C	T	11: 54,378,627 (GRCm39)		probably benign	Het
Gabpb1	A	G	2: 126,495,494 (GRCm39)	I86T	probably damaging	Het
Gmds	A	T	13: 32,411,264 (GRCm39)	S57T	probably benign	Het
Gnpat	T	G	8: 125,610,096 (GRCm39)	D426E	probably benign	Het
Gnptab	C	A	10: 88,269,262 (GRCm39)	P655Q	possibly damaging	Het
Gpi-ps	A	G	8: 5,690,359 (GRCm39)		noncoding transcript	Het
Herc1	T	A	9: 66,369,128 (GRCm39)	F2941I	probably damaging	Het
Herc2	T	C	7: 55,803,522 (GRCm39)		probably benign	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Itga11	T	G	9: 62,642,575 (GRCm39)	V166G	probably damaging	Het
Itga11	T	C	9: 62,667,584 (GRCm39)	V639A	possibly damaging	Het
Itpr2	A	G	6: 146,214,377 (GRCm39)	F1490S	probably damaging	Het
Lama2	C	A	10: 26,869,064 (GRCm39)	E802*	probably null	Het
Lgi3	C	T	14: 70,768,469 (GRCm39)		probably benign	Het
Limch1	C	T	5: 67,193,427 (GRCm39)		probably benign	Het
Lipc	T	C	9: 70,711,063 (GRCm39)	N363S	probably damaging	Het
Lrit2	A	G	14: 36,790,002 (GRCm39)		probably null	Het
Mfsd13a	C	T	19: 46,354,943 (GRCm39)	T40I	probably benign	Het
Mug2	A	G	6: 122,017,607 (GRCm39)	Y448C	probably damaging	Het
Mybpc3	A	G	2: 90,954,839 (GRCm39)	E450G	probably damaging	Het
Myo5b	A	T	18: 74,875,242 (GRCm39)	T1549S	probably benign	Het
Naa15	T	C	3: 51,355,859 (GRCm39)		probably null	Het
Nckap1l	T	A	15: 103,363,455 (GRCm39)	C54S	probably benign	Het
Nlrp9b	A	G	7: 19,757,981 (GRCm39)	D406G	probably benign	Het
Nprl3	T	A	11: 32,189,784 (GRCm39)		probably benign	Het
Nvl	A	G	1: 180,947,956 (GRCm39)	V429A	probably benign	Het
Opa1	A	T	16: 29,448,453 (GRCm39)	N912Y	probably benign	Het
Or14j3	A	T	17: 37,900,306 (GRCm39)	*313K	probably null	Het
Or1x2	G	A	11: 50,918,431 (GRCm39)	V201I	probably benign	Het
Or52b4i	A	T	7: 102,191,938 (GRCm39)	Q265L	probably benign	Het
Or6c211	T	A	10: 129,505,467 (GRCm39)	Y307F	probably benign	Het
Pcnx1	T	C	12: 82,042,869 (GRCm39)	V2317A	possibly damaging	Het
Phf3	A	T	1: 30,844,524 (GRCm39)	N1478K	possibly damaging	Het
Phykpl	G	A	11: 51,477,480 (GRCm39)	D91N	probably benign	Het
Polr2b	T	A	5: 77,491,110 (GRCm39)	C984S	probably damaging	Het
Ppfibp1	A	G	6: 146,899,731 (GRCm39)	R141G	probably benign	Het
Ppp1r16a	C	T	15: 76,574,999 (GRCm39)		probably benign	Het
Ppp2r5b	C	A	19: 6,278,461 (GRCm39)	V483F	probably benign	Het
Ppp4r4	T	A	12: 103,542,633 (GRCm39)	C132S	probably benign	Het
Prg2	A	G	2: 84,813,800 (GRCm39)		probably benign	Het
Prpf4b	G	A	13: 35,074,471 (GRCm39)		probably benign	Het
Rad54l2	T	C	9: 106,590,654 (GRCm39)	T491A	probably damaging	Het
Rnf213	G	T	11: 119,305,413 (GRCm39)	W548L	probably damaging	Het
Rusc2	G	T	4: 43,422,055 (GRCm39)	C825F	probably damaging	Het
Sema4b	A	G	7: 79,868,826 (GRCm39)		probably benign	Het
Sema6a	A	G	18: 47,423,244 (GRCm39)	V254A	probably damaging	Het
Slc13a3	A	G	2: 165,266,501 (GRCm39)	F346L	probably damaging	Het
Slc25a17	T	C	15: 81,222,160 (GRCm39)	D104G	probably damaging	Het
Specc1	A	T	11: 62,037,139 (GRCm39)	N707Y	possibly damaging	Het
Tex48	T	A	4: 63,526,696 (GRCm39)	E76V	probably damaging	Het
Tfr2	T	C	5: 137,575,727 (GRCm39)	V281A	probably benign	Het
Tgfb1i1	A	C	7: 127,848,666 (GRCm39)	Q238H	probably damaging	Het
Thoc6	G	A	17: 23,889,213 (GRCm39)	T122I	probably benign	Het
Tmtc1	G	A	6: 148,314,328 (GRCm39)		probably benign	Het
Tnfrsf8	T	C	4: 145,014,617 (GRCm39)	D264G	possibly damaging	Het
Trim43a	T	A	9: 88,466,213 (GRCm39)	I178N	probably damaging	Het
Ttn	G	C	2: 76,537,437 (GRCm39)	I26503M	possibly damaging	Het
Usp28	C	A	9: 48,950,323 (GRCm39)	D589E	probably benign	Het
Utp23	T	C	15: 51,745,907 (GRCm39)	S242P	probably damaging	Het
Vwa3a	A	G	7: 120,374,603 (GRCm39)	Y305C	probably benign	Het
Vwa5b1	C	A	4: 138,336,169 (GRCm39)	E142*	probably null	Het
Xrn2	A	T	2: 146,871,699 (GRCm39)	T374S	probably damaging	Het
Zfp735	A	T	11: 73,601,488 (GRCm39)	Q144L	probably benign	Het

Other mutations in Ppm1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02095:Ppm1d	APN	11	85,217,832 (GRCm39)	missense	probably benign	0.04
IGL02351:Ppm1d	APN	11	85,236,541 (GRCm39)	missense	probably damaging	0.99
IGL02358:Ppm1d	APN	11	85,236,541 (GRCm39)	missense	probably damaging	0.99
IGL02496:Ppm1d	APN	11	85,230,492 (GRCm39)	missense	possibly damaging	0.51
IGL02667:Ppm1d	APN	11	85,223,111 (GRCm39)	missense	probably damaging	1.00
IGL02885:Ppm1d	APN	11	85,217,770 (GRCm39)	missense	possibly damaging	0.52
IGL03085:Ppm1d	APN	11	85,227,989 (GRCm39)	missense	probably null	0.80
R0606:Ppm1d	UTSW	11	85,236,703 (GRCm39)	missense	probably benign	0.27
R1014:Ppm1d	UTSW	11	85,227,980 (GRCm39)	missense	probably damaging	0.98
R1548:Ppm1d	UTSW	11	85,230,431 (GRCm39)	missense	probably damaging	1.00
R3774:Ppm1d	UTSW	11	85,227,993 (GRCm39)	missense	probably damaging	1.00
R3775:Ppm1d	UTSW	11	85,227,993 (GRCm39)	missense	probably damaging	1.00
R4025:Ppm1d	UTSW	11	85,236,583 (GRCm39)	missense	probably benign	0.09
R4065:Ppm1d	UTSW	11	85,236,678 (GRCm39)	missense	probably benign	0.01
R4067:Ppm1d	UTSW	11	85,236,678 (GRCm39)	missense	probably benign	0.01
R4118:Ppm1d	UTSW	11	85,202,408 (GRCm39)	missense	probably benign	0.01
R5169:Ppm1d	UTSW	11	85,223,196 (GRCm39)	missense	probably damaging	1.00
R5384:Ppm1d	UTSW	11	85,202,609 (GRCm39)	missense	probably damaging	0.98
R5861:Ppm1d	UTSW	11	85,202,674 (GRCm39)	missense	possibly damaging	0.70
R5890:Ppm1d	UTSW	11	85,217,734 (GRCm39)	missense	probably damaging	1.00
R6394:Ppm1d	UTSW	11	85,230,498 (GRCm39)	missense	probably benign
R6992:Ppm1d	UTSW	11	85,223,178 (GRCm39)	missense	probably damaging	1.00
R7006:Ppm1d	UTSW	11	85,227,977 (GRCm39)	missense	possibly damaging	0.92
R7297:Ppm1d	UTSW	11	85,236,821 (GRCm39)	missense	probably damaging	1.00
R7993:Ppm1d	UTSW	11	85,217,777 (GRCm39)	missense	probably damaging	1.00
R8099:Ppm1d	UTSW	11	85,230,492 (GRCm39)	missense	possibly damaging	0.51
R8697:Ppm1d	UTSW	11	85,227,986 (GRCm39)	missense	possibly damaging	0.95
R8738:Ppm1d	UTSW	11	85,236,732 (GRCm39)	missense	probably damaging	0.99
R9018:Ppm1d	UTSW	11	85,227,961 (GRCm39)	missense	probably damaging	0.98
R9188:Ppm1d	UTSW	11	85,236,747 (GRCm39)	missense	possibly damaging	0.93
Z1176:Ppm1d	UTSW	11	85,230,399 (GRCm39)	missense	probably benign	0.09
Z1177:Ppm1d	UTSW	11	85,217,789 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- agaaaccctacctcagccaAGTCG -3'
(R):5'- AATGATCACCTGCCGCCAAGTC -3'

Sequencing Primer
(F):5'- ACCTCCCTCCAGTTCAAGATG -3'
(R):5'- TGCCGCCAAGTCCTTCG -3'

Posted On

2013-04-11