Mutagenetix > Incidental Mutation

Incidental Mutation 'R7130:Ppm1a'

552599

Institutional Source

Beutler Lab

Gene Symbol

Ppm1a

Ensembl Gene

ENSMUSG00000021096

Gene Name

protein phosphatase 1A, magnesium dependent, alpha isoform

Synonyms

2310003C21Rik, MPPa-1, MMPa-2, Mpp alpha, 2900017D14Rik

MMRRC Submission

045215-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7130 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72804231-72846593 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 72831007 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 177 (N177K)

Ref Sequence

ENSEMBL: ENSMUSP00000021514 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021514] [ENSMUST00000221502] [ENSMUST00000221628] [ENSMUST00000222790] [ENSMUST00000222896]

AlphaFold

P49443

Predicted Effect

probably benign
Transcript: ENSMUST00000021514
AA Change: N177K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000021514
Gene: ENSMUSG00000021096
AA Change: N177K

Domain	Start	End	E-Value	Type
PP2Cc	13	289	5.08e-106	SMART
PP2C_SIG	38	291	1.26e-1	SMART
Blast:PP2Cc	295	335	6e-8	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000221502

Predicted Effect

probably benign
Transcript: ENSMUST00000221628

Predicted Effect

probably benign
Transcript: ENSMUST00000222790

Predicted Effect

probably benign
Transcript: ENSMUST00000222896
AA Change: N177K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (63/64)

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. This phosphatase dephosphorylates, and negatively regulates the activities of, MAP kinases and MAP kinase kinases. It has been shown to inhibit the activation of p38 and JNK kinase cascades induced by environmental stresses. This phosphatase can also dephosphorylate cyclin-dependent kinases, and thus may be involved in cell cycle control. Overexpression of this phosphatase is reported to activate the expression of the tumor suppressor gene TP53/p53, which leads to G2/M cell cycle arrest and apoptosis. Three alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit delayed wound healing, delayed re-epithelialization, and decreased keratinocyte migration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	T	13: 77,418,021 (GRCm39)	T735I	possibly damaging	Het
Abtb3	A	C	10: 85,223,419 (GRCm39)	D76A	unknown	Het
Adcy10	T	A	1: 165,331,616 (GRCm39)	V83E	probably damaging	Het
Adcy6	A	G	15: 98,495,110 (GRCm39)	Y701H	probably benign	Het
Apbb1	G	A	7: 105,214,538 (GRCm39)	H518Y	probably damaging	Het
Arhgap20	T	A	9: 51,761,047 (GRCm39)	V966E	probably damaging	Het
Bbx	T	A	16: 50,030,805 (GRCm39)		probably null	Het
Bpifb9b	T	A	2: 154,153,592 (GRCm39)	N219K	probably damaging	Het
Cdk19	A	G	10: 40,355,761 (GRCm39)	T490A	unknown	Het
Cyb5r1	T	G	1: 134,335,759 (GRCm39)		probably benign	Het
Dnah14	C	T	1: 181,573,523 (GRCm39)	Q2945*	probably null	Het
Eif5b	A	G	1: 38,080,857 (GRCm39)	T733A	probably damaging	Het
Esyt3	T	A	9: 99,200,223 (GRCm39)	D657V	probably benign	Het
Fat4	T	A	3: 39,034,936 (GRCm39)	F2863I	probably damaging	Het
Fbxw14	T	A	9: 109,100,350 (GRCm39)	I435L	probably benign	Het
Fus	G	A	7: 127,573,585 (GRCm39)	G253S	unknown	Het
Gdi2	T	C	13: 3,598,891 (GRCm39)	V25A	probably benign	Het
Gm28729	T	G	9: 96,401,457 (GRCm39)	R110S	probably benign	Het
Gucd1	A	G	10: 75,347,951 (GRCm39)	L28P	possibly damaging	Het
Hmgxb3	C	T	18: 61,265,450 (GRCm39)	S1176N	probably benign	Het
Islr2	T	C	9: 58,105,575 (GRCm39)	T606A	probably damaging	Het
Kcnf1	T	C	12: 17,225,810 (GRCm39)	D137G	probably benign	Het
Klkb1	T	A	8: 45,728,575 (GRCm39)	T395S	probably benign	Het
Morc2b	T	A	17: 33,355,262 (GRCm39)	S837C	possibly damaging	Het
Mrpl9	A	G	3: 94,354,597 (GRCm39)	R204G	probably benign	Het
Naaladl1	A	G	19: 6,156,018 (GRCm39)	E64G	probably benign	Het
Nlrx1	T	C	9: 44,173,638 (GRCm39)	E521G	possibly damaging	Het
Npc2	A	G	12: 84,812,081 (GRCm39)	S54P	probably damaging	Het
Nxpe2	T	C	9: 48,250,837 (GRCm39)	M37V	probably benign	Het
Or2ag17	A	G	7: 106,389,389 (GRCm39)	L273P	probably benign	Het
Or2w1	T	G	13: 21,317,416 (GRCm39)	V157G	probably benign	Het
Or4b1b	T	C	2: 90,112,266 (GRCm39)	I218V	probably benign	Het
Or9s27	C	T	1: 92,516,634 (GRCm39)	A194V	probably benign	Het
Osbpl9	G	A	4: 108,940,296 (GRCm39)	R213C	probably benign	Het
Pard3	C	A	8: 128,142,164 (GRCm39)	R907S	probably damaging	Het
Pcdhb11	A	G	18: 37,556,559 (GRCm39)	S630G	probably benign	Het
Pcdhb17	G	A	18: 37,618,498 (GRCm39)	C96Y	probably damaging	Het
Pclo	C	T	5: 14,729,356 (GRCm39)	T2738I	unknown	Het
Pcnx2	G	A	8: 126,480,323 (GRCm39)	R1995*	probably null	Het
Rfx6	A	T	10: 51,554,476 (GRCm39)	K106*	probably null	Het
Rhoh	T	C	5: 66,050,207 (GRCm39)	V159A	probably damaging	Het
Rreb1	T	C	13: 38,083,724 (GRCm39)	V129A	probably damaging	Het
Sdccag8	C	A	1: 176,702,167 (GRCm39)	A424D	probably damaging	Het
Sdf2	T	C	11: 78,136,823 (GRCm39)	M1T	probably null	Het
Sftpb	T	A	6: 72,282,808 (GRCm39)	F94I	possibly damaging	Het
Slc38a2	G	T	15: 96,589,263 (GRCm39)	H410Q	probably damaging	Het
Slc40a1	A	T	1: 45,960,384 (GRCm39)	V68E	probably damaging	Het
Spopfm3	T	C	3: 94,105,834 (GRCm39)	W51R	probably damaging	Het
Srd5a3	T	C	5: 76,297,684 (GRCm39)	V162A	possibly damaging	Het
Stip1	C	T	19: 6,999,178 (GRCm39)	G467S	possibly damaging	Het
Tango6	A	G	8: 107,533,733 (GRCm39)	D953G	probably damaging	Het
Tdrd7	T	C	4: 46,029,693 (GRCm39)	S1009P	probably damaging	Het
Thap3	T	C	4: 152,073,373 (GRCm39)	Y14C	possibly damaging	Het
Tmem143	T	A	7: 45,558,901 (GRCm39)	M281K	possibly damaging	Het
Trio	TACCTTGTTACTGAGCCCTTCTCACCTTCACAGACACCTTGTTACTGAGCCCTTCTCACCTTCACAGATACCTTGTTACTGAGCCCTTCTC	TACCTTGTTACTGAGCCCTTCTCACCTTCACAGATACCTTGTTACTGAGCCCTTCTC	15: 27,742,399 (GRCm39)		probably benign	Het
Tsga10	A	G	1: 37,822,965 (GRCm39)	I516T	probably damaging	Het
Ttn	T	C	2: 76,721,013 (GRCm39)	I6804V	unknown	Het
Ubtfl1	C	A	9: 18,321,143 (GRCm39)	P224T	probably damaging	Het
Umad1	G	T	6: 8,427,185 (GRCm39)	C120F	probably null	Het
Unc93a2	T	C	17: 7,637,824 (GRCm39)	T304A	probably benign	Het
Vinac1	A	T	2: 128,881,101 (GRCm39)	V275D		Het
Vmn2r79	T	C	7: 86,651,474 (GRCm39)	V291A	probably damaging	Het

Other mutations in Ppm1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0838:Ppm1a	UTSW	12	72,831,094 (GRCm39)	missense	probably benign	0.00
R1305:Ppm1a	UTSW	12	72,830,494 (GRCm39)	missense	probably damaging	1.00
R1802:Ppm1a	UTSW	12	72,840,481 (GRCm39)	splice site	probably null
R4864:Ppm1a	UTSW	12	72,830,738 (GRCm39)	missense	probably benign
R4895:Ppm1a	UTSW	12	72,831,126 (GRCm39)	missense	probably damaging	1.00
R5604:Ppm1a	UTSW	12	72,837,455 (GRCm39)	missense	probably benign	0.22
R6348:Ppm1a	UTSW	12	72,837,449 (GRCm39)	missense	probably benign
R7432:Ppm1a	UTSW	12	72,830,916 (GRCm39)	missense	probably damaging	1.00
R8342:Ppm1a	UTSW	12	72,830,909 (GRCm39)	missense	probably damaging	1.00
R9664:Ppm1a	UTSW	12	72,837,451 (GRCm39)	missense	possibly damaging	0.67

Predicted Primers

PCR Primer
(F):5'- GGGTTTCTGGAGATTGATGAACAC -3'
(R):5'- CGCATGCAAGGATGATGAACTG -3'

Sequencing Primer
(F):5'- TTCTGGAGATTGATGAACACATGAG -3'
(R):5'- ATGAACTGGTCATCTTCTTCAGAC -3'

Posted On

2019-05-15