Mutagenetix > Incidental Mutation

Incidental Mutation 'R8697:Ppm1d'

668793

Institutional Source

Beutler Lab

Gene Symbol

Ppm1d

Ensembl Gene

ENSMUSG00000020525

Gene Name

protein phosphatase 1D magnesium-dependent, delta isoform

Synonyms

Wip1

MMRRC Submission

068551-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8697 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85202080-85237897 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85227986 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 301 (Y301H)

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: Y301H

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000020835
Gene: ENSMUSG00000020525
AA Change: Y301H

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: Y156H

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (58/59)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930558K02Rik	C	T	1: 161,795,565 (GRCm39)	A8T	probably benign	Het
Acacb	T	C	5: 114,351,441 (GRCm39)	V1130A	probably damaging	Het
Ackr1	A	G	1: 173,159,775 (GRCm39)	F248S	probably damaging	Het
Alx4	G	A	2: 93,505,657 (GRCm39)	R253Q	probably damaging	Het
Ap3b2	T	C	7: 81,122,783 (GRCm39)	I485V	possibly damaging	Het
Aqp7	T	C	4: 41,045,305 (GRCm39)	E25G	probably damaging	Het
Cacna1g	T	C	11: 94,307,524 (GRCm39)	N1753D	probably benign	Het
Cacna2d1	T	A	5: 16,570,865 (GRCm39)	N1063K	possibly damaging	Het
Cad	T	C	5: 31,231,945 (GRCm39)	V1801A	probably benign	Het
Ccdc171	T	C	4: 83,600,577 (GRCm39)	W868R	probably damaging	Het
Cecr2	T	C	6: 120,710,779 (GRCm39)	Y165H	probably damaging	Het
Clip4	G	T	17: 72,163,270 (GRCm39)	G614V	possibly damaging	Het
Ctnnal1	T	A	4: 56,838,986 (GRCm39)	M236L	probably damaging	Het
Ctps1	T	C	4: 120,399,947 (GRCm39)	D470G	probably benign	Het
Dmwd	A	C	7: 18,812,113 (GRCm39)	Q189P	probably damaging	Het
Dnah17	A	G	11: 117,976,985 (GRCm39)	I1869T	possibly damaging	Het
Eepd1	A	G	9: 25,497,998 (GRCm39)	N361S	probably benign	Het
Ephb6	C	T	6: 41,591,157 (GRCm39)	H105Y	probably damaging	Het
Fkbp15	A	T	4: 62,239,295 (GRCm39)	Y603*	probably null	Het
Flt3	T	C	5: 147,294,811 (GRCm39)	Y420C	possibly damaging	Het
Frem2	T	A	3: 53,433,249 (GRCm39)	T2692S	probably damaging	Het
Gna12	T	A	5: 140,771,200 (GRCm39)	R157S	probably benign	Het
Gsdmc	A	T	15: 63,651,883 (GRCm39)	S243T	probably benign	Het
Hectd1	A	G	12: 51,819,320 (GRCm39)		probably benign	Het
Hoxd11	G	A	2: 74,513,013 (GRCm39)	G93R	unknown	Het
Hydin	A	G	8: 111,259,515 (GRCm39)	I2496V	probably benign	Het
Igsf10	A	G	3: 59,226,308 (GRCm39)	I2455T	probably benign	Het
Ilvbl	A	T	10: 78,419,196 (GRCm39)	R482*	probably null	Het
Itpr1	A	G	6: 108,500,327 (GRCm39)	Y2640C	probably damaging	Het
Kif20a	C	G	18: 34,761,584 (GRCm39)	Q326E	probably benign	Het
Lamp1	A	T	8: 13,224,448 (GRCm39)	M371L	possibly damaging	Het
Lcn6	A	G	2: 25,567,166 (GRCm39)	N56D	probably benign	Het
Map3k10	A	G	7: 27,362,784 (GRCm39)	V434A	probably benign	Het
Mdga1	T	C	17: 30,065,615 (GRCm39)	N331S	probably damaging	Het
Mndal	C	A	1: 173,700,558 (GRCm39)	E138*	probably null	Het
Morc3	T	C	16: 93,667,908 (GRCm39)	V762A	probably benign	Het
Ngef	A	T	1: 87,417,459 (GRCm39)	F279Y	probably damaging	Het
Or10ac1	A	G	6: 42,515,629 (GRCm39)	V109A	probably damaging	Het
Or5m13b	A	T	2: 85,754,200 (GRCm39)	K196I	possibly damaging	Het
Padi4	GGAGCTCCTGA	GGA	4: 140,485,230 (GRCm39)		probably null	Het
Pcdhb4	G	A	18: 37,441,832 (GRCm39)	V381M	probably benign	Het
Rasgrf1	A	G	9: 89,877,055 (GRCm39)	T807A	probably benign	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Sipa1l2	T	C	8: 126,208,855 (GRCm39)	K518E	probably damaging	Het
Skic3	A	G	13: 76,328,274 (GRCm39)	S1441G	probably damaging	Het
Slc52a3	A	G	2: 151,846,396 (GRCm39)	D119G	probably damaging	Het
Srsf4	C	T	4: 131,628,042 (GRCm39)	H379Y	unknown	Het
Ssr1	G	T	13: 38,167,425 (GRCm39)	S246*	probably null	Het
Tars2	C	T	3: 95,653,374 (GRCm39)	E509K	possibly damaging	Het
Tepsin	G	T	11: 119,988,354 (GRCm39)	Y34*	probably null	Het
Tmtc2	A	G	10: 105,205,831 (GRCm39)	I488T	probably damaging	Het
Trgc2	A	T	13: 19,491,514 (GRCm39)	M69K		Het
Ttn	A	G	2: 76,575,120 (GRCm39)	W25258R	probably damaging	Het
Utp14b	T	C	1: 78,644,244 (GRCm39)	M714T	probably benign	Het
Vwa3b	T	A	1: 37,115,461 (GRCm39)	H308Q	probably benign	Het
Washc2	A	G	6: 116,206,220 (GRCm39)	D480G	probably benign	Het
Xcl1	C	T	1: 164,763,008 (GRCm39)	V18I	unknown	Het
Zcchc2	C	A	1: 105,958,494 (GRCm39)	N988K	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
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
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'- TCGAGGGAATTCTCTTGTCCC -3'
(R):5'- ACCTCCTTAGCTAGACTCACAG -3'

Sequencing Primer
(F):5'- GTTGTTGTGCACCTATAGGAACAGAC -3'
(R):5'- TTAGCTAGACTCACAGCCATGG -3'

Posted On

2021-04-30