Mutagenetix > Incidental Mutation

Incidental Mutation 'R8099:Ppm1d'

630414

Institutional Source

Beutler Lab

Gene Symbol

Ppm1d

Ensembl Gene

ENSMUSG00000020525

Gene Name

protein phosphatase 1D magnesium-dependent, delta isoform

Synonyms

Wip1

MMRRC Submission

067531-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8099 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85202080-85237897 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 85230492 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 370 (P370L)

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: P370L

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000020835
Gene: ENSMUSG00000020525
AA Change: P370L

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.1%

Validation Efficiency

97% (60/62)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	T	C	14: 70,394,969 (GRCm39)	R62G	probably benign	Het
Abcb9	A	G	5: 124,215,308 (GRCm39)	F478L	probably benign	Het
Abcc9	A	T	6: 142,621,257 (GRCm39)	N494K	probably damaging	Het
Atp11a	T	G	8: 12,911,973 (GRCm39)	M124R		Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Ccdc110	T	A	8: 46,395,130 (GRCm39)	H340Q	probably damaging	Het
Celsr1	A	G	15: 85,915,801 (GRCm39)	L724P	probably damaging	Het
Cfap74	A	G	4: 155,539,489 (GRCm39)	N938S	unknown	Het
Chil3	T	G	3: 106,055,984 (GRCm39)	D363A	probably damaging	Het
Ciart	G	A	3: 95,788,656 (GRCm39)	P61L	probably damaging	Het
Cpne3	A	G	4: 19,525,169 (GRCm39)	V442A	possibly damaging	Het
Ctsh	T	C	9: 89,946,300 (GRCm39)	V130A	probably damaging	Het
Cyp3a44	T	C	5: 145,725,212 (GRCm39)	K330E	probably benign	Het
Dgcr2	A	T	16: 17,667,633 (GRCm39)	D275E	probably damaging	Het
Dnah1	A	T	14: 31,024,321 (GRCm39)	D919E	probably benign	Het
Ell3	TCTCCTC	TCTC	2: 121,269,937 (GRCm39)		probably benign	Het
Entrep3	T	C	3: 89,091,250 (GRCm39)	F74L	probably damaging	Het
Epb41l3	T	A	17: 69,554,683 (GRCm39)	F261Y	possibly damaging	Het
Fbxo3	A	C	2: 103,885,280 (GRCm39)	H383P	probably damaging	Het
Foxp1	C	T	6: 98,922,510 (GRCm39)	V441M	unknown	Het
Gm29106	C	T	1: 118,126,521 (GRCm39)	S71F	probably benign	Het
Golga3	T	A	5: 110,336,573 (GRCm39)	L364*	probably null	Het
H1f1	C	T	13: 23,947,832 (GRCm39)	L45F	probably damaging	Het
Herc1	T	A	9: 66,279,422 (GRCm39)	L110H	probably damaging	Het
Igkv4-53	A	T	6: 69,625,898 (GRCm39)	S90T	possibly damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,321,113 (GRCm39)		probably benign	Het
Kti12	G	T	4: 108,705,571 (GRCm39)	G162W	probably damaging	Het
Lama3	T	A	18: 12,667,120 (GRCm39)	I763N	probably damaging	Het
Macf1	A	T	4: 123,369,922 (GRCm39)	I1613K	probably benign	Het
Mkrn1	T	C	6: 39,387,031 (GRCm39)	D102G	probably benign	Het
Muc2	T	A	7: 141,299,175 (GRCm39)		probably null	Het
Nipal4	T	C	11: 46,052,848 (GRCm39)	E39G	probably benign	Het
Nr1h2	T	C	7: 44,199,746 (GRCm39)	Y391C	possibly damaging	Het
Odam	T	C	5: 88,040,299 (GRCm39)	I255T	possibly damaging	Het
Or11m3	A	G	15: 98,395,694 (GRCm39)	M114V	probably benign	Het
Or6c35	T	A	10: 129,168,996 (GRCm39)	I82K	probably damaging	Het
Or9m1	T	A	2: 87,733,852 (GRCm39)	H56L	probably damaging	Het
Per3	A	T	4: 151,097,014 (GRCm39)	M837K	possibly damaging	Het
Pitpnm3	T	A	11: 71,961,144 (GRCm39)	H357L	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Plcb1	T	C	2: 135,093,654 (GRCm39)	Y156H	possibly damaging	Het
Prrc2b	T	C	2: 32,098,686 (GRCm39)	V666A	probably benign	Het
Ptpn3	A	T	4: 57,204,985 (GRCm39)	C725*	probably null	Het
Rapgefl1	T	C	11: 98,738,209 (GRCm39)	W437R	probably damaging	Het
Sema4g	T	C	19: 44,980,967 (GRCm39)	L5P	probably damaging	Het
Sipa1l1	C	T	12: 82,480,600 (GRCm39)	P1529L	probably benign	Het
Slc12a2	T	C	18: 58,032,464 (GRCm39)	L388P	probably damaging	Het
Sltm	T	A	9: 70,493,360 (GRCm39)	S786T	probably damaging	Het
Srsf1	T	C	11: 87,940,082 (GRCm39)	I198T	probably benign	Het
Ssh2	C	T	11: 77,345,755 (GRCm39)	R1247*	probably null	Het
Ssu2	T	C	6: 112,353,438 (GRCm39)	T229A	probably benign	Het
Stra6	T	A	9: 58,059,777 (GRCm39)	H579Q	probably damaging	Het
Tanc2	T	A	11: 105,754,833 (GRCm39)	V559E	probably benign	Het
Trp53bp1	A	G	2: 121,030,230 (GRCm39)	Y1762H	probably damaging	Het
Usp15	T	C	10: 122,982,826 (GRCm39)	Y263C	possibly damaging	Het
Usp17ld	A	T	7: 102,899,495 (GRCm39)	V479E	probably damaging	Het
Vmn2r15	A	T	5: 109,441,185 (GRCm39)	S224R	possibly damaging	Het
Vmn2r8	A	T	5: 108,949,700 (GRCm39)	N382K	probably benign	Het
Vmn2r94	T	C	17: 18,477,659 (GRCm39)	I251V	probably benign	Het
Wnt2b	A	T	3: 104,854,408 (GRCm39)	V350D	possibly 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
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
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'- GAAGAGGAGCTGGTGACTCCTAT -3'
(R):5'- CTCTGAAACCACAAGCCAGATT -3'

Sequencing Primer
(F):5'- AGCTGGTGACTCCTATCATGTAAGTC -3'
(R):5'- GTCATGGTGCTTTATCAGGAATAG -3'

Posted On

2020-06-30