Mutagenetix > Incidental Mutation

Incidental Mutation 'R5861:Ppm1d'

453928

Institutional Source

Beutler Lab

Gene Symbol

Ppm1d

Ensembl Gene

ENSMUSG00000020525

Gene Name

protein phosphatase 1D magnesium-dependent, delta isoform

Synonyms

Wip1

MMRRC Submission

044073-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5861 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85202080-85237897 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85202674 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 126 (S126P)

Ref Sequence

ENSEMBL: ENSMUSP00000020835 (fasta)

Gene Model

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

AlphaFold

Q9QZ67

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020835
AA Change: S126P

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000020835
Gene: ENSMUSG00000020525
AA Change: S126P

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 benign
Transcript: ENSMUST00000127717

SMART Domains

Protein: ENSMUSP00000115606
Gene: ENSMUSG00000020525

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

Meta Mutation Damage Score

0.1952

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.3%
20x: 91.3%

Validation Efficiency

98% (81/83)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	T	16: 20,218,644 (GRCm39)	T246N	probably damaging	Het
Aopep	A	G	13: 63,446,626 (GRCm39)	D143G	probably damaging	Het
Arhgap10	C	T	8: 78,037,393 (GRCm39)	A612T	probably damaging	Het
Arsg	T	A	11: 109,454,014 (GRCm39)	F407I	probably damaging	Het
Asxl1	C	A	2: 153,241,310 (GRCm39)	A620D	probably damaging	Het
C2cd3	A	G	7: 100,093,682 (GRCm39)		probably benign	Het
Chn2	G	A	6: 54,267,359 (GRCm39)	V92I	probably damaging	Het
Cog2	T	C	8: 125,264,617 (GRCm39)	F332S	probably damaging	Het
Crhbp	G	A	13: 95,580,333 (GRCm39)	A82V	probably damaging	Het
Cyp2j6	A	G	4: 96,434,040 (GRCm39)	V90A	possibly damaging	Het
Dennd4c	A	T	4: 86,709,589 (GRCm39)	M397L	probably benign	Het
Dnajb8	A	G	6: 88,200,088 (GRCm39)	D208G	possibly damaging	Het
Ecm1	G	C	3: 95,643,909 (GRCm39)	L230V	probably damaging	Het
Ercc2	G	C	7: 19,128,066 (GRCm39)	A696P	possibly damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Gm13035	A	G	4: 146,009,859 (GRCm39)		noncoding transcript	Het
Gm28042	T	C	2: 119,865,116 (GRCm39)	V247A	probably damaging	Het
Gm28455	T	A	7: 39,148,003 (GRCm39)		noncoding transcript	Het
Gpr150	A	T	13: 76,204,192 (GRCm39)	V251D	possibly damaging	Het
Grip1	C	T	10: 119,765,875 (GRCm39)	S69L	probably damaging	Het
Hs6st3	A	G	14: 119,376,265 (GRCm39)	I147V	possibly damaging	Het
Il5	G	A	11: 53,614,743 (GRCm39)	E102K	probably benign	Het
Kif1c	T	C	11: 70,594,621 (GRCm39)	F94L	probably damaging	Het
Lrrc63	T	C	14: 75,344,806 (GRCm39)	E427G	possibly damaging	Het
Man1b1	A	G	2: 25,238,066 (GRCm39)	T384A	probably benign	Het
Mapk15	C	A	15: 75,868,208 (GRCm39)		probably benign	Het
Mfsd10	T	C	5: 34,791,588 (GRCm39)		probably benign	Het
Mgat5	C	A	1: 127,315,129 (GRCm39)	A285E	probably damaging	Het
Mroh4	T	A	15: 74,478,456 (GRCm39)		probably benign	Het
Myf5	A	T	10: 107,320,069 (GRCm39)	C194S	probably benign	Het
Myh7	A	G	14: 55,226,347 (GRCm39)	V431A	possibly damaging	Het
Nadsyn1	A	C	7: 143,364,964 (GRCm39)	M247R	possibly damaging	Het
Nipsnap3b	A	G	4: 53,021,177 (GRCm39)	D166G	probably damaging	Het
Nqo2	A	T	13: 34,156,413 (GRCm39)	L42F	probably damaging	Het
Nt5dc3	A	T	10: 86,651,738 (GRCm39)	D180V	probably damaging	Het
Numa1	C	A	7: 101,658,494 (GRCm39)		probably null	Het
Olfm3	T	A	3: 114,916,052 (GRCm39)	L328Q	probably damaging	Het
Or4e1	T	C	14: 52,700,953 (GRCm39)	Y171C	probably damaging	Het
Or5w17	A	T	2: 87,583,922 (GRCm39)	N138K	probably benign	Het
Or7a37	A	T	10: 78,805,765 (GRCm39)	Y94F	probably damaging	Het
Papolb	T	C	5: 142,514,992 (GRCm39)	N217S	possibly damaging	Het
Pcmtd2	C	A	2: 181,484,268 (GRCm39)	T26K	probably damaging	Het
Pld5	T	G	1: 175,917,571 (GRCm39)	N59H	probably damaging	Het
Ppp1r21	T	C	17: 88,889,937 (GRCm39)	L727P	probably damaging	Het
Pramel20	G	T	4: 143,297,810 (GRCm39)	V77L	probably benign	Het
Prpsap2	C	T	11: 61,627,870 (GRCm39)	R202H	probably damaging	Het
Rara	T	A	11: 98,858,987 (GRCm39)	C148*	probably null	Het
Rexo2	A	T	9: 48,386,481 (GRCm39)	I83N	probably damaging	Het
Rnf213	A	G	11: 119,364,203 (GRCm39)	R4501G	probably damaging	Het
Rps5	T	A	7: 12,659,501 (GRCm39)	F97L	probably damaging	Het
Sigirr	G	A	7: 140,671,292 (GRCm39)	R397W	probably damaging	Het
Slc6a6	T	C	6: 91,718,014 (GRCm39)	Y318H	probably damaging	Het
Spam1	A	G	6: 24,796,570 (GRCm39)	T174A	probably benign	Het
Stam2	G	T	2: 52,632,116 (GRCm39)		probably benign	Het
Taar7a	T	C	10: 23,868,337 (GRCm39)	E348G	probably benign	Het
Taf11	T	C	17: 28,120,644 (GRCm39)	T209A	probably benign	Het
Tenm4	A	G	7: 96,492,424 (GRCm39)		probably benign	Het
Tmed6	G	T	8: 107,790,786 (GRCm39)	T87K	probably damaging	Het
Trim5	G	T	7: 103,928,726 (GRCm39)	H72N	probably benign	Het
Trim5	A	C	7: 103,928,728 (GRCm39)	L71R	probably benign	Het
Uevld	A	T	7: 46,576,104 (GRCm39)	S461T	probably benign	Het
Vmn2r6	T	A	3: 64,463,454 (GRCm39)	N460I	probably benign	Het
Ylpm1	C	T	12: 85,087,660 (GRCm39)	P1148L	probably damaging	Het
Zfp316	T	C	5: 143,249,095 (GRCm39)	Y180C	unknown	Het
Zfp941	A	G	7: 140,392,052 (GRCm39)	S436P	probably damaging	Het
Zfp979	G	A	4: 147,697,966 (GRCm39)	Q248*	probably null	Het
Zscan29	G	T	2: 120,994,518 (GRCm39)	T489N	probably damaging	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
R0114:Ppm1d	UTSW	11	85,217,731 (GRCm39)	missense	probably damaging	1.00
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
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'- AACTCAGATCGTGGTGGAGC -3'
(R):5'- ATGGATAGCGCTCTTGGTACC -3'

Sequencing Primer
(F):5'- CCATCGGAAAAAGGCCCGG -3'
(R):5'- TCTTGGTACCGGGGAGGC -3'

Posted On

2017-02-10