Mutagenetix > Incidental Mutation

Incidental Mutation 'R1346:Ppp4c'

241648

Institutional Source

Beutler Lab

Gene Symbol

Ppp4c

Ensembl Gene

ENSMUSG00000030697

Gene Name

protein phosphatase 4, catalytic subunit

Synonyms

1110002D08Rik, PPX

MMRRC Submission

039411-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1346 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

126385038-126391668 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 126391222 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146245 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032934] [ENSMUST00000032936] [ENSMUST00000087566] [ENSMUST00000106348] [ENSMUST00000133514] [ENSMUST00000205935] [ENSMUST00000206353] [ENSMUST00000205336] [ENSMUST00000205786] [ENSMUST00000205890] [ENSMUST00000141355] [ENSMUST00000151137] [ENSMUST00000206570]

AlphaFold

P97470

Predicted Effect

probably benign
Transcript: ENSMUST00000032934

SMART Domains

Protein: ENSMUSP00000032934
Gene: ENSMUSG00000030695

Domain	Start	End	E-Value	Type
Pfam:Glycolytic	15	364	1.2e-179	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000032936

SMART Domains

Protein: ENSMUSP00000032936
Gene: ENSMUSG00000030697

Domain	Start	End	E-Value	Type
PP2Ac	20	290	4.04e-147	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000087566

SMART Domains

Protein: ENSMUSP00000084846
Gene: ENSMUSG00000030695

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:Glycolytic	69	418	2.8e-193	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106348

SMART Domains

Protein: ENSMUSP00000101955
Gene: ENSMUSG00000030695

Domain	Start	End	E-Value	Type
Pfam:Glycolytic	15	364	1.2e-179	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133514

SMART Domains

Protein: ENSMUSP00000114587
Gene: ENSMUSG00000030695

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:Glycolytic	69	193	5.4e-59	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135707

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139657

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205950

Predicted Effect

probably benign
Transcript: ENSMUST00000206334

Predicted Effect

probably benign
Transcript: ENSMUST00000205935

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206261

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205862

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147748

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205879

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143509

Predicted Effect

probably benign
Transcript: ENSMUST00000206353

Predicted Effect

probably benign
Transcript: ENSMUST00000205336

Predicted Effect

probably benign
Transcript: ENSMUST00000205786

Predicted Effect

probably benign
Transcript: ENSMUST00000205890

Predicted Effect

probably benign
Transcript: ENSMUST00000141355

SMART Domains

Protein: ENSMUSP00000117349
Gene: ENSMUSG00000030695

Domain	Start	End	E-Value	Type
Pfam:Glycolytic	15	131	7.5e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151137

SMART Domains

Protein: ENSMUSP00000118417
Gene: ENSMUSG00000030695

Domain	Start	End	E-Value	Type
Pfam:Glycolytic	15	237	6.9e-121	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000206570

Predicted Effect

probably benign
Transcript: ENSMUST00000206477

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.2%
20x: 90.1%

Validation Efficiency

98% (43/44)

MGI Phenotype

PHENOTYPE: Embryonic Ppp4c-deficiency leads to early embryonic lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	C	A	14: 32,382,771 (GRCm39)	A1065S	probably benign	Het
Ak5	G	T	3: 152,239,071 (GRCm39)	D301E	probably damaging	Het
Akap13	G	A	7: 75,259,340 (GRCm39)	G655S	possibly damaging	Het
Arap3	A	T	18: 38,108,971 (GRCm39)	C1228S	probably damaging	Het
Arfgef1	T	C	1: 10,229,958 (GRCm39)	T1248A	probably benign	Het
Atf7ip2	G	A	16: 10,052,195 (GRCm39)	V225I	probably damaging	Het
Bdp1	G	A	13: 100,215,263 (GRCm39)	Q374*	probably null	Het
Cacng6	G	T	7: 3,483,438 (GRCm39)	W255C	possibly damaging	Het
Camta2	T	C	11: 70,567,293 (GRCm39)	K628R	possibly damaging	Het
Catsperg1	A	T	7: 28,881,759 (GRCm39)		probably null	Het
Cers4	A	G	8: 4,565,632 (GRCm39)	E26G	probably damaging	Het
Chfr	A	G	5: 110,288,313 (GRCm39)	D76G	probably damaging	Het
Chrng	C	A	1: 87,135,985 (GRCm39)	Q245K	probably benign	Het
Cnn2	T	C	10: 79,829,414 (GRCm39)		probably benign	Het
Dyrk2	T	C	10: 118,695,624 (GRCm39)	K545E	possibly damaging	Het
Eif3d	A	G	15: 77,852,754 (GRCm39)	I9T	probably damaging	Het
Elovl7	A	G	13: 108,410,883 (GRCm39)	I153V	probably benign	Het
Etl4	T	C	2: 20,810,955 (GRCm39)	S1013P	possibly damaging	Het
Furin	C	T	7: 80,041,932 (GRCm39)		probably benign	Het
Gart	G	T	16: 91,425,070 (GRCm39)		probably null	Het
Gm572	G	A	4: 148,739,354 (GRCm39)	V61M	possibly damaging	Het
Hspbap1	G	A	16: 35,622,035 (GRCm39)	A127T	probably damaging	Het
Kcnh2	T	C	5: 24,527,658 (GRCm39)	D898G	possibly damaging	Het
Kcnrg	A	G	14: 61,849,144 (GRCm39)	T202A	probably benign	Het
Lhx1	T	C	11: 84,412,905 (GRCm39)	E36G	possibly damaging	Het
Lrp1	T	C	10: 127,441,735 (GRCm39)	N167S	probably damaging	Het
Parp9	A	T	16: 35,777,267 (GRCm39)	M171L	probably benign	Het
Pla2g4e	G	A	2: 120,013,253 (GRCm39)	R356W	probably damaging	Het
Rab3c	G	A	13: 110,397,120 (GRCm39)	R49C	probably damaging	Het
Rbm25	T	C	12: 83,691,167 (GRCm39)		probably benign	Het
Sema4g	T	A	19: 44,986,091 (GRCm39)	S311T	possibly damaging	Het
Skida1	T	C	2: 18,053,090 (GRCm39)	I21V	possibly damaging	Het
Slc25a32	T	A	15: 38,963,411 (GRCm39)	I137F	probably benign	Het
Stard9	T	C	2: 120,543,929 (GRCm39)	V4409A	probably damaging	Het
Stx2	G	A	5: 129,065,852 (GRCm39)		probably benign	Het
Timeless	C	T	10: 128,078,234 (GRCm39)	T248M	possibly damaging	Het
Tlr2	T	A	3: 83,743,900 (GRCm39)	N728Y	probably damaging	Het
Zfp592	A	T	7: 80,687,812 (GRCm39)	N913Y	possibly damaging	Het

Other mutations in Ppp4c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0030:Ppp4c	UTSW	7	126,387,605 (GRCm39)	missense	possibly damaging	0.93
R0601:Ppp4c	UTSW	7	126,386,460 (GRCm39)	missense	probably benign	0.01
R0602:Ppp4c	UTSW	7	126,388,254 (GRCm39)	splice site	probably benign
R1187:Ppp4c	UTSW	7	126,385,372 (GRCm39)	missense	probably benign	0.02
R1244:Ppp4c	UTSW	7	126,385,452 (GRCm39)	missense	probably damaging	0.96
R1878:Ppp4c	UTSW	7	126,386,779 (GRCm39)	missense	probably damaging	1.00
R1892:Ppp4c	UTSW	7	126,385,452 (GRCm39)	missense	probably damaging	0.96
R2072:Ppp4c	UTSW	7	126,386,520 (GRCm39)	critical splice acceptor site	probably null
R2313:Ppp4c	UTSW	7	126,386,629 (GRCm39)	missense	probably damaging	0.99
R2863:Ppp4c	UTSW	7	126,391,272 (GRCm39)	missense	probably damaging	0.98
R2865:Ppp4c	UTSW	7	126,391,272 (GRCm39)	missense	probably damaging	0.98
R3808:Ppp4c	UTSW	7	126,386,499 (GRCm39)	missense	probably damaging	1.00
R3809:Ppp4c	UTSW	7	126,386,499 (GRCm39)	missense	probably damaging	1.00
R4290:Ppp4c	UTSW	7	126,391,231 (GRCm39)	critical splice donor site	probably null
R4504:Ppp4c	UTSW	7	126,386,637 (GRCm39)	missense	probably damaging	1.00
R5001:Ppp4c	UTSW	7	126,386,709 (GRCm39)	missense	probably damaging	1.00
R7194:Ppp4c	UTSW	7	126,385,653 (GRCm39)	missense	probably damaging	1.00
R7490:Ppp4c	UTSW	7	126,386,504 (GRCm39)	missense	probably damaging	1.00
R8121:Ppp4c	UTSW	7	126,386,496 (GRCm39)	missense	probably damaging	1.00
R8886:Ppp4c	UTSW	7	126,386,466 (GRCm39)	missense	probably damaging	1.00
R9123:Ppp4c	UTSW	7	126,386,739 (GRCm39)	missense	probably damaging	1.00
R9125:Ppp4c	UTSW	7	126,386,739 (GRCm39)	missense	probably damaging	1.00
R9155:Ppp4c	UTSW	7	126,386,419 (GRCm39)	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- TGAGTTCCCTAGAACTTCCTGCCAC -3'
(R):5'- ACTGCTGTATTTGCCTCCAACCAAC -3'

Sequencing Primer
(F):5'- CTCGCTCTTACTCCACTAGAAAC -3'
(R):5'- AGAGCACTGGTTTCCCTTTG -3'

Posted On

2014-10-16