Mutagenetix > Incidental Mutation

Incidental Mutation 'R5611:Ppm1g'

438015

Institutional Source

Beutler Lab

Gene Symbol

Ppm1g

Ensembl Gene

ENSMUSG00000029147

Gene Name

protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform

Synonyms

Fin13

MMRRC Submission

043273-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5611 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31360012-31377889 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31363441 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 256 (F256L)

Ref Sequence

ENSEMBL: ENSMUSP00000031032 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031032] [ENSMUST00000031562] [ENSMUST00000114590] [ENSMUST00000201231] [ENSMUST00000201407] [ENSMUST00000202294] [ENSMUST00000202929]

AlphaFold

Q61074

Predicted Effect

probably damaging
Transcript: ENSMUST00000031032
AA Change: F256L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031032
Gene: ENSMUSG00000029147
AA Change: F256L

Domain	Start	End	E-Value	Type
PP2Cc	15	500	9.7e-103	SMART
PP2C_SIG	219	502	1.05e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000031562

SMART Domains

Protein: ENSMUSP00000031562
Gene: ENSMUSG00000043059

Domain	Start	End	E-Value	Type
low complexity region	35	55	N/A	INTRINSIC
low complexity region	100	117	N/A	INTRINSIC
low complexity region	121	144	N/A	INTRINSIC
ZnF_C2H2	148	170	1.33e-1	SMART
ZnF_C2H2	176	198	2.86e-1	SMART
ZnF_C2H2	204	226	1.06e-4	SMART
low complexity region	227	238	N/A	INTRINSIC
low complexity region	340	354	N/A	INTRINSIC
ZnF_C2H2	358	380	1.03e-2	SMART
ZnF_C2H2	386	408	5.42e-2	SMART
ZnF_C2H2	414	436	2.91e-2	SMART
ZnF_C2H2	442	464	1.38e-3	SMART
ZnF_C2H2	470	492	5.06e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114590

SMART Domains

Protein: ENSMUSP00000110238
Gene: ENSMUSG00000043059

Domain	Start	End	E-Value	Type
low complexity region	37	57	N/A	INTRINSIC
low complexity region	102	119	N/A	INTRINSIC
low complexity region	123	146	N/A	INTRINSIC
ZnF_C2H2	150	172	1.33e-1	SMART
ZnF_C2H2	178	200	2.86e-1	SMART
ZnF_C2H2	206	228	1.06e-4	SMART
low complexity region	229	240	N/A	INTRINSIC
low complexity region	342	356	N/A	INTRINSIC
ZnF_C2H2	360	382	1.03e-2	SMART
ZnF_C2H2	388	410	5.42e-2	SMART
ZnF_C2H2	416	438	2.91e-2	SMART
ZnF_C2H2	444	466	1.38e-3	SMART
ZnF_C2H2	472	494	5.06e-2	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000200778
AA Change: F197L

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200853

Predicted Effect

probably benign
Transcript: ENSMUST00000201231

SMART Domains

Protein: ENSMUSP00000144172
Gene: ENSMUSG00000043059

Domain	Start	End	E-Value	Type
low complexity region	35	55	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000201407
AA Change: F154L

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000144556
Gene: ENSMUSG00000029147
AA Change: F154L

Domain	Start	End	E-Value	Type
Blast:PP2Cc	1	155	4e-87	BLAST
low complexity region	156	173	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000202294
AA Change: F149L

SMART Domains

Protein: ENSMUSP00000144644
Gene: ENSMUSG00000029147
AA Change: F149L

Domain	Start	End	E-Value	Type
PP2Cc	15	393	6.6e-105	SMART
PP2C_SIG	38	395	3.7e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202402

Predicted Effect

probably benign
Transcript: ENSMUST00000202929

SMART Domains

Protein: ENSMUSP00000143817
Gene: ENSMUSG00000043059

Domain	Start	End	E-Value	Type
low complexity region	50	67	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.7%

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. This phosphatase is found to be responsible for the dephosphorylation of Pre-mRNA splicing factors, which is important for the formation of functional spliceosome. Studies of a similar gene in mice suggested a role of this phosphatase in regulating cell cycle progression. [provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for a targeted mutation display perinatal lethality. Mice heterozygous for a targeted mutation display a decrease in prepulse inhibition. [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
9930111J21Rik2	G	C	11: 48,910,828 (GRCm39)	T535R	possibly damaging	Het
Adam34	A	T	8: 44,104,749 (GRCm39)	F299I	probably benign	Het
Adamts20	A	G	15: 94,171,161 (GRCm39)	M1854T	possibly damaging	Het
Adrm1b	G	A	3: 92,335,758 (GRCm39)	P315S	probably damaging	Het
Apbb1	A	G	7: 105,208,690 (GRCm39)	V581A	probably damaging	Het
Apol6	T	A	15: 76,935,240 (GRCm39)		probably null	Het
Arhgef37	T	C	18: 61,640,334 (GRCm39)	T242A	probably benign	Het
Asxl2	T	C	12: 3,534,598 (GRCm39)	V265A	probably damaging	Het
Bicd1	A	T	6: 149,414,954 (GRCm39)	R556*	probably null	Het
C2	A	G	17: 35,091,360 (GRCm39)	I101T	probably damaging	Het
Cd22	T	A	7: 30,577,575 (GRCm39)		probably benign	Het
Cd33	T	C	7: 43,181,542 (GRCm39)	H206R	probably damaging	Het
Cd5l	G	A	3: 87,275,082 (GRCm39)	G207D	possibly damaging	Het
Chrd	A	T	16: 20,557,724 (GRCm39)	D774V	probably damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Csn1s1	A	T	5: 87,825,503 (GRCm39)		probably null	Het
Dpyd	G	A	3: 118,987,942 (GRCm39)	V704I	probably benign	Het
Dscc1	C	A	15: 54,945,569 (GRCm39)	Q312H	probably benign	Het
Dysf	A	T	6: 84,041,860 (GRCm39)	T154S	probably damaging	Het
Foxi2	T	C	7: 135,013,433 (GRCm39)	V221A	probably benign	Het
Gabbr2	A	T	4: 46,804,105 (GRCm39)	I250N	probably damaging	Het
Gfap	T	A	11: 102,787,895 (GRCm39)	T17S	probably benign	Het
Hcrtr2	A	G	9: 76,230,596 (GRCm39)	V64A	probably damaging	Het
Igkv4-86	A	G	6: 68,887,659 (GRCm39)	S27P	probably damaging	Het
Kalrn	G	T	16: 33,996,150 (GRCm39)	F903L	probably damaging	Het
Lrrc31	A	G	3: 30,745,304 (GRCm39)		probably null	Het
Mlh3	T	C	12: 85,314,219 (GRCm39)	T656A	probably benign	Het
Mss51	G	T	14: 20,533,174 (GRCm39)	S432R	possibly damaging	Het
Mzf1	A	G	7: 12,778,554 (GRCm39)		probably benign	Het
Nop58	T	A	1: 59,749,672 (GRCm39)		probably benign	Het
Or10al5	A	T	17: 38,062,975 (GRCm39)	I77F	possibly damaging	Het
Otogl	T	C	10: 107,622,630 (GRCm39)	E1652G	probably damaging	Het
Pikfyve	C	A	1: 65,295,247 (GRCm39)	N1459K	probably damaging	Het
Pkn3	G	A	2: 29,969,673 (GRCm39)	G61D	probably damaging	Het
Plekha4	T	C	7: 45,203,065 (GRCm39)	S581P	probably benign	Het
Proser1	A	G	3: 53,386,296 (GRCm39)	N726S	probably benign	Het
Rapgef1	A	G	2: 29,592,448 (GRCm39)	D480G	probably damaging	Het
Reln	G	A	5: 22,244,663 (GRCm39)	Q772*	probably null	Het
Sh3gl2	T	C	4: 85,273,568 (GRCm39)	V40A	probably benign	Het
Slc22a23	G	A	13: 34,489,222 (GRCm39)	T221I	probably benign	Het
Slc22a28	T	A	19: 8,040,698 (GRCm39)	T518S	probably damaging	Het
Slc4a1ap	A	G	5: 31,711,173 (GRCm39)		probably benign	Het
St8sia4	T	C	1: 95,555,409 (GRCm39)	D207G	probably damaging	Het
Syde1	T	A	10: 78,421,725 (GRCm39)	T609S	probably benign	Het
Tbc1d5	A	G	17: 51,042,995 (GRCm39)	I831T	probably damaging	Het
Tle4	T	C	19: 14,427,159 (GRCm39)	D754G	probably damaging	Het
Ttn	C	T	2: 76,562,869 (GRCm39)	W26949*	probably null	Het
Vmn1r222	A	C	13: 23,416,743 (GRCm39)	S157A	probably damaging	Het
Vmn1r51	T	A	6: 90,106,692 (GRCm39)	L203M	probably benign	Het
Vmn1r6	T	C	6: 56,979,362 (GRCm39)	L8P	probably damaging	Het
Vmn2r103	A	G	17: 20,013,904 (GRCm39)	D232G	probably damaging	Het
Vmn2r17	T	A	5: 109,576,030 (GRCm39)	D300E	probably damaging	Het
Vmn2r66	T	A	7: 84,654,951 (GRCm39)	K453*	probably null	Het
Vps13a	A	T	19: 16,702,936 (GRCm39)	D672E	probably damaging	Het
Vps54	A	G	11: 21,261,130 (GRCm39)	N599S	possibly damaging	Het
Zc3h13	A	T	14: 75,568,348 (GRCm39)	N1214Y	probably benign	Het
Zc3h18	T	G	8: 123,135,109 (GRCm39)		probably null	Het
Zfp51	A	G	17: 21,684,354 (GRCm39)	E323G	probably damaging	Het

Other mutations in Ppm1g

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02517:Ppm1g	APN	5	31,365,425 (GRCm39)	missense	probably damaging	1.00
R0843:Ppm1g	UTSW	5	31,364,895 (GRCm39)	splice site	probably benign
R1483:Ppm1g	UTSW	5	31,360,465 (GRCm39)	missense	probably benign	0.45
R1750:Ppm1g	UTSW	5	31,363,560 (GRCm39)	missense	probably damaging	1.00
R5776:Ppm1g	UTSW	5	31,362,454 (GRCm39)	missense	probably benign	0.01
R6274:Ppm1g	UTSW	5	31,363,750 (GRCm39)	missense	probably damaging	0.99
R6450:Ppm1g	UTSW	5	31,360,468 (GRCm39)	missense	probably benign	0.01
R7360:Ppm1g	UTSW	5	31,360,621 (GRCm39)	missense	probably damaging	1.00
R7642:Ppm1g	UTSW	5	31,362,447 (GRCm39)	nonsense	probably null
R8508:Ppm1g	UTSW	5	31,361,872 (GRCm39)	missense	probably damaging	1.00
R8828:Ppm1g	UTSW	5	31,365,768 (GRCm39)	missense	probably benign	0.00
R8905:Ppm1g	UTSW	5	31,361,437 (GRCm39)	missense	probably damaging	1.00
R9720:Ppm1g	UTSW	5	31,360,914 (GRCm39)	critical splice donor site	probably null
Z1176:Ppm1g	UTSW	5	31,377,780 (GRCm39)	start gained	probably benign
Z1177:Ppm1g	UTSW	5	31,377,658 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATAACCTCGAATACCTGAGTCTTG -3'
(R):5'- ATTGGGACAGGCGATGAACC -3'

Sequencing Primer
(F):5'- CAATTAGGCGCTAGCTGTTAAG -3'
(R):5'- TGGACCTGAGGACCCATCTAG -3'

Posted On

2016-10-26