Mutagenetix > Incidental Mutation

Incidental Mutation 'R5776:Ppm1g'

446693

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

043375-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5776 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31360012-31377889 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31362454 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 282 (D282G)

Ref Sequence

ENSEMBL: ENSMUSP00000031032 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031032] [ENSMUST00000031562] [ENSMUST00000114590] [ENSMUST00000202294] [ENSMUST00000201968] [ENSMUST00000202929] [ENSMUST00000201231] [ENSMUST00000201407]

AlphaFold

Q61074

Predicted Effect

probably benign
Transcript: ENSMUST00000031032
AA Change: D282G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000031032
Gene: ENSMUSG00000029147
AA Change: D282G

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: D223G

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200992

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201078

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201119

Predicted Effect

unknown
Transcript: ENSMUST00000202294
AA Change: D175G

SMART Domains

Protein: ENSMUSP00000144644
Gene: ENSMUSG00000029147
AA Change: D175G

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: ENSMUST00000201968

SMART Domains

Protein: ENSMUSP00000144517
Gene: ENSMUSG00000043059

Domain	Start	End	E-Value	Type
low complexity region	80	92	N/A	INTRINSIC

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

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

probably benign
Transcript: ENSMUST00000201407

SMART Domains

Protein: ENSMUSP00000144556
Gene: ENSMUSG00000029147

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

Meta Mutation Damage Score

0.0781

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.7%
20x: 96.3%

Validation Efficiency

98% (64/65)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,107,649 (GRCm39)	M378K	possibly damaging	Het
Abca17	A	G	17: 24,514,132 (GRCm39)	V857A	probably benign	Het
Abca9	C	T	11: 109,998,286 (GRCm39)		probably null	Het
Adam22	T	C	5: 8,177,361 (GRCm39)	K583E	probably benign	Het
Akr1c13	T	C	13: 4,244,186 (GRCm39)	F80L	probably damaging	Het
Apob	A	T	12: 8,056,149 (GRCm39)	I1511F	possibly damaging	Het
Ccdc168	T	C	1: 44,095,665 (GRCm39)	E1811G	possibly damaging	Het
Cfh	C	A	1: 140,071,761 (GRCm39)	R291I	possibly damaging	Het
Col1a1	C	T	11: 94,840,550 (GRCm39)	S1114F	unknown	Het
Ctsj	T	C	13: 61,150,956 (GRCm39)	D168G	probably damaging	Het
Erf	T	C	7: 24,945,534 (GRCm39)	D79G	probably damaging	Het
Extl1	T	C	4: 134,085,083 (GRCm39)	N629S	possibly damaging	Het
Fbxo9	T	C	9: 78,002,469 (GRCm39)	E204G	probably damaging	Het
Fdx2	C	A	9: 20,984,778 (GRCm39)	V9L	possibly damaging	Het
Gfer	G	T	17: 24,915,027 (GRCm39)	S5R	probably benign	Het
Gm15931	A	T	7: 4,284,564 (GRCm39)		noncoding transcript	Het
Gm6309	T	A	5: 146,105,691 (GRCm39)	I158F	possibly damaging	Het
Gm7247	C	T	14: 51,601,805 (GRCm39)	S26F	probably benign	Het
Hacl1	A	T	14: 31,344,828 (GRCm39)	N234K	possibly damaging	Het
Hcn3	C	T	3: 89,055,412 (GRCm39)	A612T	probably benign	Het
Hectd1	T	A	12: 51,810,897 (GRCm39)	E1679D	possibly damaging	Het
Hipk4	T	C	7: 27,228,405 (GRCm39)	L285P	probably damaging	Het
Igsf3	G	A	3: 101,332,796 (GRCm39)	V25I	probably benign	Het
Jade1	A	G	3: 41,568,227 (GRCm39)	H765R	probably benign	Het
Kcnv1	T	C	15: 44,977,963 (GRCm39)	D25G	unknown	Het
Klhl3	A	G	13: 58,152,998 (GRCm39)	S586P	probably benign	Het
L3mbtl2	A	G	15: 81,569,072 (GRCm39)	D582G	probably damaging	Het
Matn2	G	A	15: 34,431,765 (GRCm39)	C835Y	probably damaging	Het
Naa15	A	C	3: 51,367,447 (GRCm39)	D490A	probably damaging	Het
Nab2	T	A	10: 127,500,198 (GRCm39)	Y298F	probably damaging	Het
Nipsnap1	T	A	11: 4,838,919 (GRCm39)	M115K	probably benign	Het
Nlrp5-ps	T	C	7: 14,326,649 (GRCm39)		noncoding transcript	Het
Nol4l	T	G	2: 153,259,741 (GRCm39)	Q211P	probably damaging	Het
Oga	T	C	19: 45,760,363 (GRCm39)	E265G	probably damaging	Het
Or52z15	T	A	7: 103,332,246 (GRCm39)	M97K	probably damaging	Het
Or6k14	A	T	1: 173,927,339 (GRCm39)	H105L	probably damaging	Het
Pkhd1	T	C	1: 20,279,409 (GRCm39)	K2970E	possibly damaging	Het
Plin4	T	C	17: 56,411,983 (GRCm39)	T683A	probably damaging	Het
Ppp6r3	A	G	19: 3,576,901 (GRCm39)	S10P	possibly damaging	Het
Raph1	G	A	1: 60,529,315 (GRCm39)		probably benign	Het
Rc3h2	A	G	2: 37,268,325 (GRCm39)	V935A	possibly damaging	Het
Reg4	T	A	3: 98,140,344 (GRCm39)	D108E	possibly damaging	Het
Saraf	T	A	8: 34,632,604 (GRCm39)	Y228N	probably damaging	Het
Sctr	T	C	1: 119,984,137 (GRCm39)	S357P	probably damaging	Het
Sec22b	A	T	3: 97,821,884 (GRCm39)	N139Y	probably damaging	Het
Sgsm1	T	A	5: 113,398,823 (GRCm39)	I1037F	probably damaging	Het
Skint5	A	C	4: 113,620,700 (GRCm39)	S671R	unknown	Het
Slc38a3	C	A	9: 107,535,948 (GRCm39)	E62*	probably null	Het
Slfn14	C	T	11: 83,174,425 (GRCm39)	E189K	probably damaging	Het
Sox21	A	G	14: 118,472,656 (GRCm39)	L131P	probably damaging	Het
Stip1	A	G	19: 6,999,393 (GRCm39)		probably null	Het
Stx16	G	A	2: 173,935,292 (GRCm39)	G156R	probably damaging	Het
Susd1	T	C	4: 59,315,363 (GRCm39)		probably benign	Het
Tdrd7	T	A	4: 46,005,689 (GRCm39)	D498E	probably benign	Het
Tln2	C	T	9: 67,165,532 (GRCm39)	E1053K	probably damaging	Het
Trav6-4	A	G	14: 53,692,211 (GRCm39)	D103G	probably damaging	Het
Txndc15	A	G	13: 55,865,920 (GRCm39)	E128G	probably benign	Het
Vmn2r22	A	T	6: 123,614,673 (GRCm39)	W306R	probably damaging	Het
Yjefn3	A	T	8: 70,342,121 (GRCm39)	L33Q	probably damaging	Het
Zfp641	T	C	15: 98,186,891 (GRCm39)	D244G	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
R5611:Ppm1g	UTSW	5	31,363,441 (GRCm39)	missense	probably damaging	1.00
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'- CGAGACTTATACCAGTCCCTTGTC -3'
(R):5'- TGGTTTGATCTTCCCCAGGG -3'

Sequencing Primer
(F):5'- ATACCAGTCCCTTGTCCTTTCCAAAG -3'
(R):5'- TCTGAGCCCAGTTCAGAATG -3'

Posted On

2016-12-15