Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03085:Ppm1d'

418047

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppm1d

Ensembl Gene

ENSMUSG00000020525

Gene Name

protein phosphatase 1D magnesium-dependent, delta isoform

Synonyms

Wip1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03085

Quality Score

Status

Chromosome

Chromosomal Location

85202080-85237897 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85227989 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 302 (I302V)

Ref Sequence

ENSEMBL: ENSMUSP00000020835 (fasta)

Gene Model

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

AlphaFold

Q9QZ67

Predicted Effect

probably null
Transcript: ENSMUST00000020835
AA Change: I302V

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000020835
Gene: ENSMUSG00000020525
AA Change: I302V

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 null
Transcript: ENSMUST00000127717
AA Change: I157V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000115606
Gene: ENSMUSG00000020525
AA Change: I157V

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

Coding Region Coverage

Validation Efficiency

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
4930578I06Rik	A	T	14: 64,208,881 (GRCm39)	H230Q	probably benign	Het
Aagab	T	A	9: 63,546,316 (GRCm39)		probably benign	Het
Actl11	G	T	9: 107,806,749 (GRCm39)	K357N	probably damaging	Het
Aktip	A	G	8: 91,852,651 (GRCm39)		probably null	Het
Amtn	A	G	5: 88,529,501 (GRCm39)		probably benign	Het
Arhgap21	T	A	2: 20,919,532 (GRCm39)	M58L	probably benign	Het
Art2b	T	A	7: 101,229,785 (GRCm39)	Y38F	probably damaging	Het
Asb10	T	C	5: 24,744,601 (GRCm39)		probably benign	Het
Atm	A	T	9: 53,395,471 (GRCm39)	D1699E	possibly damaging	Het
Azi2	A	C	9: 117,888,214 (GRCm39)	K259T	probably damaging	Het
Bcas3	A	G	11: 85,367,609 (GRCm39)	D77G	probably damaging	Het
Birc6	G	A	17: 74,903,945 (GRCm39)	R1246H	probably damaging	Het
Cdh13	C	A	8: 120,015,463 (GRCm39)	D559E	probably damaging	Het
Chrm3	C	T	13: 9,927,570 (GRCm39)	A489T	probably damaging	Het
Ckap2l	A	T	2: 129,126,967 (GRCm39)	Y404N	probably benign	Het
Col18a1	A	G	10: 76,895,015 (GRCm39)		probably benign	Het
Col4a1	T	A	8: 11,272,198 (GRCm39)	K731*	probably null	Het
Corin	A	T	5: 72,511,273 (GRCm39)	C360S	probably damaging	Het
Cyp1a1	A	C	9: 57,608,995 (GRCm39)	H292P	possibly damaging	Het
Dennd5b	A	G	6: 148,928,893 (GRCm39)	V760A	probably damaging	Het
Dhx57	T	C	17: 80,565,526 (GRCm39)	D842G	possibly damaging	Het
Emp2	C	A	16: 10,105,910 (GRCm39)		probably benign	Het
Eral1	G	A	11: 77,969,093 (GRCm39)	R136C	probably damaging	Het
Fat2	T	A	11: 55,174,072 (GRCm39)	M2214L	probably benign	Het
Flnb	G	A	14: 7,882,211 (GRCm38)	R304H	probably benign	Het
G6pd2	A	T	5: 61,967,645 (GRCm39)	E473D	probably benign	Het
Gpx8	A	G	13: 113,179,795 (GRCm39)	Y169H	probably damaging	Het
Ighv1-64	A	G	12: 115,471,461 (GRCm39)	S19P	possibly damaging	Het
Ikbkb	G	T	8: 23,172,802 (GRCm39)	N139K	probably benign	Het
Inpp5b	A	T	4: 124,686,115 (GRCm39)	T720S	probably benign	Het
Kmt2d	C	A	15: 98,737,821 (GRCm39)		probably benign	Het
Lrig2	G	A	3: 104,374,575 (GRCm39)	P169S	probably damaging	Het
Magi3	T	A	3: 103,922,655 (GRCm39)	K1354I	possibly damaging	Het
Mapk9	A	T	11: 49,757,865 (GRCm39)	D103V	probably damaging	Het
Mrpl46	A	T	7: 78,431,333 (GRCm39)	I75N	probably damaging	Het
Or3a1c	T	A	11: 74,046,511 (GRCm39)	I177N	probably damaging	Het
Or8b41	A	G	9: 38,054,479 (GRCm39)	E16G	probably damaging	Het
Or8d2b	G	A	9: 38,788,959 (GRCm39)	M162I	probably benign	Het
Otog	G	T	7: 45,955,346 (GRCm39)		probably null	Het
Pex11a	A	G	7: 79,387,523 (GRCm39)	L103P	probably damaging	Het
Pnpla8	A	G	12: 44,358,305 (GRCm39)	T687A	probably benign	Het
Prdm11	C	A	2: 92,805,304 (GRCm39)	V549F	possibly damaging	Het
Prss54	G	A	8: 96,292,258 (GRCm39)	P107L	probably benign	Het
Rasa3	T	A	8: 13,635,690 (GRCm39)	N422I	probably benign	Het
Rbm27	T	C	18: 42,460,589 (GRCm39)		probably benign	Het
Rpl13-ps3	A	T	14: 59,131,156 (GRCm39)		noncoding transcript	Het
Rps6ka2	G	A	17: 7,562,679 (GRCm39)		probably null	Het
Sphkap	T	A	1: 83,258,075 (GRCm39)	I223F	possibly damaging	Het
Srm	T	C	4: 148,677,838 (GRCm39)	F159L	probably damaging	Het
Stt3a	A	G	9: 36,644,266 (GRCm39)		probably benign	Het
Tacr3	T	C	3: 134,638,027 (GRCm39)	S395P	possibly damaging	Het
Tecpr2	A	G	12: 110,921,260 (GRCm39)		probably benign	Het
Tmub1	C	T	5: 24,651,096 (GRCm39)	G188S	probably damaging	Het
Trim66	T	A	7: 109,057,952 (GRCm39)	I877F	probably benign	Het
Ubr5	T	C	15: 38,029,812 (GRCm39)	E471G	probably damaging	Het
Vmn1r218	A	T	13: 23,321,481 (GRCm39)	Y196F	possibly damaging	Het
Vmn2r89	T	A	14: 51,689,615 (GRCm39)	D39E	probably damaging	Het
Wee1	C	A	7: 109,723,805 (GRCm39)	P240Q	probably damaging	Het
Zc3h12a	A	T	4: 125,020,813 (GRCm39)	V10D	probably benign	Het
Zzef1	T	C	11: 72,746,350 (GRCm39)		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
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
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

Posted On

2016-08-02