Mutagenetix > Incidental Mutation

Incidental Mutation 'R5384:Ppm1e'

424964

Institutional Source

Beutler Lab

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: 0.312) question?

Stock #

R5384 (G1)

Quality Score

170

Status

Not validated

Chromosome

Chromosomal Location

87117732-87249849 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87249377 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 118 (L118Q)

Ref Sequence

ENSEMBL: ENSMUSP00000061278 (fasta)

Gene Model

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

AlphaFold

Q80TL0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055438
AA Change: L118Q

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000061278
Gene: ENSMUSG00000046442
AA Change: L118Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155154

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 126 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	C	13: 119,606,496 (GRCm39)	V246A	probably benign	Het
Abcc10	T	C	17: 46,615,361 (GRCm39)	S1343G	possibly damaging	Het
Abcd3	C	A	3: 121,555,059 (GRCm39)		probably null	Het
Actl6a	T	A	3: 32,774,642 (GRCm39)	M335K	probably damaging	Het
Adamts9	A	C	6: 92,774,999 (GRCm39)	C1090W	probably damaging	Het
Ajuba	T	C	14: 54,807,855 (GRCm39)	Y459C	probably damaging	Het
Aldh7a1	T	A	18: 56,667,325 (GRCm39)	N316Y	possibly damaging	Het
Ankhd1	A	G	18: 36,724,548 (GRCm39)	E402G	probably damaging	Het
Ankrd36	A	G	11: 5,639,340 (GRCm39)		probably benign	Het
Apeh	A	T	9: 107,963,662 (GRCm39)	L551H	probably damaging	Het
Avpr1a	T	A	10: 122,285,274 (GRCm39)	F189I	probably damaging	Het
BC034090	T	A	1: 155,117,773 (GRCm39)	H115L	possibly damaging	Het
C4b	A	T	17: 34,956,635 (GRCm39)	D654E	possibly damaging	Het
Carns1	T	A	19: 4,221,900 (GRCm39)		probably null	Het
Ccdc146	T	A	5: 21,513,711 (GRCm39)	E469V	probably benign	Het
Cdc27	A	G	11: 104,397,966 (GRCm39)	I804T	probably benign	Het
Cdh23	G	A	10: 60,173,541 (GRCm39)	T1651I	probably damaging	Het
Cenpo	G	A	12: 4,266,646 (GRCm39)	P154L	probably damaging	Het
Cenpu	G	A	8: 47,015,534 (GRCm39)	G150R	probably benign	Het
Chrna10	C	A	7: 101,763,560 (GRCm39)	L78F	probably damaging	Het
Chrne	A	T	11: 70,505,913 (GRCm39)	N457K	possibly damaging	Het
Cidea	A	T	18: 67,493,236 (GRCm39)	D85V	probably damaging	Het
Cldn18	T	C	9: 99,591,911 (GRCm39)	S31G	possibly damaging	Het
Clpb	T	A	7: 101,428,548 (GRCm39)	I436N	probably damaging	Het
Col11a2	T	C	17: 34,278,148 (GRCm39)		probably null	Het
Cul7	T	C	17: 46,965,403 (GRCm39)	V527A	probably benign	Het
Dchs1	A	C	7: 105,407,236 (GRCm39)	V2119G	probably damaging	Het
Dchs1	T	A	7: 105,421,262 (GRCm39)	D386V	probably damaging	Het
Dcstamp	A	C	15: 39,622,715 (GRCm39)	Q345H	probably damaging	Het
Dlgap3	A	G	4: 127,130,123 (GRCm39)	I955V	probably damaging	Het
Dvl1	A	G	4: 155,938,143 (GRCm39)	D97G	probably damaging	Het
Dync2h1	T	C	9: 7,016,791 (GRCm39)	D3573G	probably damaging	Het
Efr3b	G	T	12: 4,033,419 (GRCm39)	F129L	probably benign	Het
Etaa1	G	A	11: 17,897,539 (GRCm39)	L193F	probably damaging	Het
Fam13c	G	A	10: 70,388,899 (GRCm39)	S474N	probably benign	Het
Fam171a2	C	A	11: 102,328,693 (GRCm39)	V689L	possibly damaging	Het
Fastkd3	T	C	13: 68,732,704 (GRCm39)	F342L	probably benign	Het
Fat4	T	C	3: 39,050,095 (GRCm39)	S3986P	possibly damaging	Het
Fbxo38	A	G	18: 62,674,042 (GRCm39)	M13T	probably benign	Het
Fbxo48	G	T	11: 16,904,329 (GRCm39)	L160F	possibly damaging	Het
Fgr	G	A	4: 132,713,664 (GRCm39)		probably null	Het
Gbx2	T	C	1: 89,856,635 (GRCm39)	T252A	probably damaging	Het
Gm20671	A	G	5: 32,977,286 (GRCm39)	S1823P	probably damaging	Het
Gpatch8	A	T	11: 102,399,053 (GRCm39)		probably null	Het
Gsdma	A	T	11: 98,557,275 (GRCm39)		probably null	Het
Gucy2g	G	A	19: 55,203,548 (GRCm39)	A750V	probably damaging	Het
Hdac9	A	G	12: 34,479,557 (GRCm39)	Y223H	probably damaging	Het
Igsf5	C	A	16: 96,192,226 (GRCm39)	T275N	probably benign	Het
Il23r	G	A	6: 67,463,275 (GRCm39)	H73Y	probably benign	Het
Ipo4	G	T	14: 55,863,653 (GRCm39)	R1026S	probably benign	Het
Jade1	T	A	3: 41,546,137 (GRCm39)	I54N	probably damaging	Het
Khdrbs1	G	T	4: 129,635,729 (GRCm39)	D75E	possibly damaging	Het
Lrwd1	A	T	5: 136,152,728 (GRCm39)	D511E	possibly damaging	Het
Ly75	A	T	2: 60,164,831 (GRCm39)	C782*	probably null	Het
Mmp3	C	T	9: 7,451,759 (GRCm39)	R366*	probably null	Het
Mrgpra6	A	G	7: 46,838,629 (GRCm39)	C190R	probably damaging	Het
Mtcl3	A	G	10: 29,072,766 (GRCm39)	D686G	probably benign	Het
Myh10	T	A	11: 68,692,434 (GRCm39)	L1369Q	probably damaging	Het
Myof	C	T	19: 37,941,435 (GRCm39)	A792T	probably damaging	Het
Ncf1	A	G	5: 134,250,659 (GRCm39)	L373P	probably damaging	Het
Ncoa7	C	A	10: 30,598,813 (GRCm39)	A37S	probably benign	Het
Nfkb1	A	G	3: 135,318,303 (GRCm39)	V310A	possibly damaging	Het
Nmur2	T	A	11: 55,931,040 (GRCm39)	I224F	probably damaging	Het
Nr1d2	A	T	14: 18,211,922 (GRCm38)	S394T	probably benign	Het
Nudt12	A	G	17: 59,310,434 (GRCm39)	W390R	probably damaging	Het
Or11g24	T	A	14: 50,662,846 (GRCm39)	V290E	possibly damaging	Het
Or2m13	A	G	16: 19,226,547 (GRCm39)	L73P	probably damaging	Het
Or4a79	T	A	2: 89,551,649 (GRCm39)	I269F	possibly damaging	Het
Or4e1	T	A	14: 52,700,714 (GRCm39)	T251S	probably benign	Het
Or52a20	T	C	7: 103,366,562 (GRCm39)	F254L	probably benign	Het
Pate2	A	G	9: 35,581,837 (GRCm39)	M44V	probably damaging	Het
Pikfyve	T	C	1: 65,283,568 (GRCm39)	L735S	probably damaging	Het
Plce1	C	A	19: 38,748,535 (GRCm39)	N1755K	probably damaging	Het
Pld1	C	A	3: 28,079,469 (GRCm39)	R90S	probably damaging	Het
Pnpla7	C	A	2: 24,931,031 (GRCm39)	P882Q	probably damaging	Het
Pold2	A	G	11: 5,826,760 (GRCm39)	L58P	probably damaging	Het
Ppm1d	A	G	11: 85,202,609 (GRCm39)	E104G	probably damaging	Het
Ppp1r42	A	G	1: 10,069,660 (GRCm39)	L134P	probably damaging	Het
Prpf8	A	G	11: 75,386,625 (GRCm39)	D1038G	probably damaging	Het
Prss36	C	A	7: 127,535,871 (GRCm39)	R288L	probably damaging	Het
Prss51	T	A	14: 64,334,543 (GRCm39)	V108E	probably damaging	Het
Psma3	G	T	12: 71,021,539 (GRCm39)	G7W	probably damaging	Het
Psmc3ip	A	T	11: 100,983,430 (GRCm39)		probably null	Het
Qser1	T	C	2: 104,616,987 (GRCm39)	E1275G	probably damaging	Het
Rai2	A	G	X: 160,561,636 (GRCm39)	N363S	probably benign	Het
Ranbp17	A	T	11: 33,169,241 (GRCm39)	V991D	possibly damaging	Het
Rcc2	A	T	4: 140,447,877 (GRCm39)	K468*	probably null	Het
S1pr2	T	C	9: 20,878,890 (GRCm39)	T313A	probably benign	Het
Sec1	C	A	7: 45,328,264 (GRCm39)	R261L	probably benign	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,103,382 (GRCm39)		probably benign	Homo
Sgip1	G	A	4: 102,791,763 (GRCm39)	V362I	possibly damaging	Het
Shroom4	T	A	X: 6,497,523 (GRCm39)	C894*	probably null	Het
Slc12a9	A	T	5: 137,329,276 (GRCm39)	L126Q	probably damaging	Het
Slx4	A	G	16: 3,808,669 (GRCm39)	S424P	probably damaging	Het
Smg5	T	C	3: 88,258,600 (GRCm39)	S524P	probably damaging	Het
Sncaip	A	G	18: 53,018,113 (GRCm39)	D418G	probably damaging	Het
Spata31d1b	C	A	13: 59,866,032 (GRCm39)	T1060K	possibly damaging	Het
Spink6	A	G	18: 44,215,347 (GRCm39)	T66A	probably damaging	Het
Sppl2c	T	A	11: 104,078,127 (GRCm39)	I309K	possibly damaging	Het
Stk39	T	A	2: 68,240,383 (GRCm39)	D116V	probably damaging	Het
Supv3l1	A	T	10: 62,266,375 (GRCm39)	N600K	possibly damaging	Het
Svep1	T	C	4: 58,104,545 (GRCm39)	K1226R	possibly damaging	Het
Syne1	C	T	10: 4,991,494 (GRCm39)	V557I	probably benign	Het
Tas2r117	G	T	6: 132,780,117 (GRCm39)	S85I	probably benign	Het
Tcf20	T	A	15: 82,740,400 (GRCm39)	Q350H	probably damaging	Het
Tep1	A	T	14: 51,105,774 (GRCm39)	L82Q	probably damaging	Het
Tfb2m	A	C	1: 179,373,437 (GRCm39)		probably null	Het
Tm9sf1	C	T	14: 55,880,301 (GRCm39)	G32D	possibly damaging	Het
Tpd52	A	T	3: 8,996,255 (GRCm39)		probably null	Het
Trappc8	A	T	18: 20,966,119 (GRCm39)		probably null	Het
Trbv30	A	G	6: 41,258,854 (GRCm39)	T88A	probably benign	Het
Trim40	T	A	17: 37,199,757 (GRCm39)	N107I	probably damaging	Het
Trim80	A	T	11: 115,338,843 (GRCm39)	T558S	probably benign	Het
Ttn	A	G	2: 76,708,692 (GRCm39)		probably benign	Het
Vav3	A	G	3: 109,434,791 (GRCm39)	M441V	possibly damaging	Het
Vmn1r42	T	A	6: 89,822,366 (GRCm39)	I68F	probably damaging	Het
Vmn2r118	C	T	17: 55,918,565 (GRCm39)	G109D	probably benign	Het
Vmn2r5	T	A	3: 64,416,931 (GRCm39)	M76L	probably benign	Het
Vwa7	G	T	17: 35,243,902 (GRCm39)		probably null	Het
Xndc1	T	C	7: 101,731,395 (GRCm39)	V378A	probably benign	Het
Zc3h12d	A	T	10: 7,729,014 (GRCm39)	D126V	probably damaging	Het
Zc3h13	A	G	14: 75,581,059 (GRCm39)	N1682S	probably benign	Het
Zc3h15	T	C	2: 83,490,574 (GRCm39)	I236T	possibly damaging	Het
Zfp13	A	T	17: 23,800,156 (GRCm39)	I34N	probably damaging	Het
Zfp169	A	T	13: 48,643,751 (GRCm39)	C459S	possibly damaging	Het
Zfyve28	A	G	5: 34,374,311 (GRCm39)	C568R	probably damaging	Het

Other mutations in Ppm1e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02332:Ppm1e	APN	11	87,122,568 (GRCm39)	missense	probably benign	0.09
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
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

Predicted Primers

PCR Primer
(F):5'- ACTGCCTGTAAAGGAGTCGC -3'
(R):5'- AAAACTTACCGGCGCTTCC -3'

Sequencing Primer
(F):5'- TGTAAAGGAGTCGCGCGTC -3'
(R):5'- CTGTTCCTGGGCGAGTTCC -3'

Posted On

2016-08-04