Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02332:Ppm1e'

288706

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppm1e

Ensembl Gene

ENSMUSG00000046442

Gene Name

protein phosphatase 1E (PP2C domain containing)

Synonyms

PP2CH, POPX1, B930008A12Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.315) question?

Stock #

IGL02332

Quality Score

Status

Chromosome

Chromosomal Location

87117732-87249849 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87122568 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 463 (H463R)

Ref Sequence

ENSEMBL: ENSMUSP00000061278 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055438]

AlphaFold

Q80TL0

Predicted Effect

probably benign
Transcript: ENSMUST00000055438
AA Change: H463R

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000061278
Gene: ENSMUSG00000046442
AA Change: H463R

Domain	Start	End	E-Value	Type
low complexity region	20	65	N/A	INTRINSIC
low complexity region	70	106	N/A	INTRINSIC
low complexity region	111	128	N/A	INTRINSIC
PP2Cc	216	483	2.26e-71	SMART
PP2C_SIG	243	485	1.01e-2	SMART
low complexity region	506	515	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the PPM family of serine/threonine-protein phosphatases. The encoded protein is localized to the nucleus and dephosphorylates and inactivates multiple substrates including serine/threonine-protein kinase PAK 1, 5'-AMP-activated protein kinase (AMPK) and the multifunctional calcium/calmodulin-dependent protein kinases. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018B24Rik	A	G	3: 48,563,323 (GRCm39)		noncoding transcript	Het
Abca13	A	T	11: 9,241,482 (GRCm39)	Y1115F	probably damaging	Het
Adam29	T	A	8: 56,324,775 (GRCm39)	I560F	probably damaging	Het
Bivm	T	C	1: 44,167,880 (GRCm39)		probably benign	Het
Brinp1	C	A	4: 68,823,121 (GRCm39)	R24L	probably benign	Het
Cnga1	A	G	5: 72,761,829 (GRCm39)	Y562H	probably damaging	Het
Cr2	C	A	1: 194,842,630 (GRCm39)	Q256H	probably benign	Het
Dhcr7	A	T	7: 143,396,865 (GRCm39)	N119I	probably damaging	Het
Dio1	A	T	4: 107,150,978 (GRCm39)	Y169N	probably damaging	Het
Dmbt1	C	T	7: 130,668,343 (GRCm39)		probably benign	Het
Eogt	T	G	6: 97,102,566 (GRCm39)	H249P	probably damaging	Het
Ermard	A	C	17: 15,210,807 (GRCm39)		probably null	Het
Exoc4	T	C	6: 33,226,175 (GRCm39)		probably null	Het
Fxr2	G	T	11: 69,540,664 (GRCm39)		probably null	Het
Glyr1	G	T	16: 4,836,817 (GRCm39)	T443N	probably damaging	Het
Gm14137	T	G	2: 119,005,807 (GRCm39)	L122R	probably damaging	Het
Gm4845	C	A	1: 141,184,335 (GRCm39)		noncoding transcript	Het
Gm8258	A	G	5: 104,923,768 (GRCm39)		noncoding transcript	Het
Gmps	G	A	3: 63,897,990 (GRCm39)	R258H	probably benign	Het
Itga6	T	G	2: 71,668,717 (GRCm39)	L552R	possibly damaging	Het
Itgam	T	A	7: 127,684,846 (GRCm39)		probably null	Het
Itgb5	G	T	16: 33,740,500 (GRCm39)	E224*	probably null	Het
Itih4	C	A	14: 30,609,817 (GRCm39)	A49D	probably damaging	Het
Itpr2	A	T	6: 146,328,040 (GRCm39)	N64K	probably damaging	Het
Moap1	T	C	12: 102,709,066 (GRCm39)	Y161C	probably benign	Het
Mst1r	G	T	9: 107,785,025 (GRCm39)	G228*	probably null	Het
Myo1g	T	C	11: 6,470,766 (GRCm39)	D30G	possibly damaging	Het
Ndn	T	A	7: 61,998,573 (GRCm39)	C140S	probably damaging	Het
Nek5	G	T	8: 22,585,277 (GRCm39)	Q367K	probably benign	Het
Nrdc	A	T	4: 108,858,185 (GRCm39)	R52S	probably damaging	Het
Nup133	A	T	8: 124,634,571 (GRCm39)	L1007Q	probably damaging	Het
Or51k2	T	C	7: 103,596,127 (GRCm39)	M118T	probably damaging	Het
Or5be3	T	C	2: 86,864,556 (GRCm39)	D3G	probably benign	Het
Or5d47	A	T	2: 87,804,409 (GRCm39)	L200Q	probably damaging	Het
P2rx2	T	C	5: 110,489,671 (GRCm39)	S116G	probably benign	Het
Pcdhb13	G	A	18: 37,576,635 (GRCm39)	V338M	probably benign	Het
Pdcl2	A	T	5: 76,466,982 (GRCm39)	Y70*	probably null	Het
Ppm1f	T	A	16: 16,731,951 (GRCm39)	C134S	possibly damaging	Het
Ppp2r3d	A	G	9: 101,057,602 (GRCm39)	F180L	possibly damaging	Het
Pxn	A	G	5: 115,682,985 (GRCm39)	S96G	probably benign	Het
Rasa4	G	T	5: 136,124,453 (GRCm39)	Q167H	probably benign	Het
Rfx8	T	C	1: 39,757,640 (GRCm39)	I43V	possibly damaging	Het
Sez6	C	T	11: 77,845,568 (GRCm39)		probably benign	Het
Slc39a6	A	T	18: 24,722,880 (GRCm39)	D473E	probably benign	Het
Spocd1	A	G	4: 129,842,885 (GRCm39)	D68G	probably damaging	Het
Syt13	T	C	2: 92,771,149 (GRCm39)	F79L	probably benign	Het
Tas2r103	A	T	6: 133,013,475 (GRCm39)	M197K	probably benign	Het
Tbrg4	A	G	11: 6,568,492 (GRCm39)	V429A	probably damaging	Het
Tuft1	A	C	3: 94,523,075 (GRCm39)		probably null	Het
Uqcrc1	A	G	9: 108,776,937 (GRCm39)	T80A	probably damaging	Het
Vps18	A	G	2: 119,124,291 (GRCm39)	N406S	probably benign	Het
Xrn2	T	A	2: 146,868,510 (GRCm39)	W188R	probably damaging	Het
Zzef1	T	G	11: 72,807,335 (GRCm39)	S2738A	probably benign	Het

Other mutations in Ppm1e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02973:Ppm1e	APN	11	87,131,488 (GRCm39)	missense	probably damaging	0.99
R0013:Ppm1e	UTSW	11	87,139,884 (GRCm39)	splice site	probably benign
R0013:Ppm1e	UTSW	11	87,139,884 (GRCm39)	splice site	probably benign
R0118:Ppm1e	UTSW	11	87,122,564 (GRCm39)	missense	probably benign	0.19
R0420:Ppm1e	UTSW	11	87,131,440 (GRCm39)	missense	probably damaging	0.98
R1400:Ppm1e	UTSW	11	87,122,592 (GRCm39)	missense	probably damaging	0.98
R1827:Ppm1e	UTSW	11	87,122,521 (GRCm39)	missense	probably damaging	1.00
R1912:Ppm1e	UTSW	11	87,135,196 (GRCm39)	missense	probably benign	0.00
R3778:Ppm1e	UTSW	11	87,139,754 (GRCm39)	splice site	probably null
R4632:Ppm1e	UTSW	11	87,122,356 (GRCm39)	missense	probably damaging	1.00
R5250:Ppm1e	UTSW	11	87,121,744 (GRCm39)	missense	probably benign	0.22
R5288:Ppm1e	UTSW	11	87,249,377 (GRCm39)	missense	possibly damaging	0.96
R5364:Ppm1e	UTSW	11	87,128,007 (GRCm39)	missense	probably benign	0.18
R5384:Ppm1e	UTSW	11	87,249,377 (GRCm39)	missense	possibly damaging	0.96
R5386:Ppm1e	UTSW	11	87,249,377 (GRCm39)	missense	possibly damaging	0.96
R5468:Ppm1e	UTSW	11	87,121,716 (GRCm39)	missense	probably benign	0.00
R8247:Ppm1e	UTSW	11	87,122,101 (GRCm39)	missense	probably benign	0.01
R9550:Ppm1e	UTSW	11	87,121,919 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16