Mutagenetix > Incidental Mutation

Incidental Mutation 'R2865:Ppp4c'

332078

Institutional Source

Beutler Lab

Gene Symbol

Ppp4c

Ensembl Gene

ENSMUSG00000030697

Gene Name

protein phosphatase 4, catalytic subunit

Synonyms

1110002D08Rik, PPX

MMRRC Submission

040454-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2865 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

126385038-126391668 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 126391272 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 20 (I20N)

Ref Sequence

ENSEMBL: ENSMUSP00000146245 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032934] [ENSMUST00000032936] [ENSMUST00000087566] [ENSMUST00000106348] [ENSMUST00000133514] [ENSMUST00000205935] [ENSMUST00000205786] [ENSMUST00000205336] [ENSMUST00000205890] [ENSMUST00000206353] [ENSMUST00000151137] [ENSMUST00000141355] [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 damaging
Transcript: ENSMUST00000032936
AA Change: I20N

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000032936
Gene: ENSMUSG00000030697
AA Change: I20N

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

possibly damaging
Transcript: ENSMUST00000205935
AA Change: I20N

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

unknown
Transcript: ENSMUST00000206334
AA Change: I16N

Predicted Effect

probably benign
Transcript: ENSMUST00000205786

Predicted Effect

probably benign
Transcript: ENSMUST00000205336

Predicted Effect

probably benign
Transcript: ENSMUST00000205890

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205950

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205862

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205879

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143509

Predicted Effect

probably benign
Transcript: ENSMUST00000206353

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147748

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206261

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: ENSMUST00000141355

SMART Domains

Protein: ENSMUSP00000117349
Gene: ENSMUSG00000030695

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000206570
AA Change: I20N

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000206477

Meta Mutation Damage Score

0.8720

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (30/30)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230072I06Rik	A	G	8: 12,329,635 (GRCm39)	Q30R	unknown	Het
Bmper	A	G	9: 23,395,237 (GRCm39)	N656S	probably benign	Het
Cic	T	A	7: 24,972,646 (GRCm39)	D792E	probably damaging	Het
Dab1	G	A	4: 104,537,343 (GRCm39)	C192Y	probably benign	Het
Ddx6	G	T	9: 44,525,553 (GRCm39)	L103F	probably damaging	Het
Fhod1	T	C	8: 106,059,543 (GRCm39)	K714R	probably null	Het
Flt1	T	C	5: 147,531,431 (GRCm39)	Q844R	possibly damaging	Het
Fnip1	T	C	11: 54,393,250 (GRCm39)	I562T	probably damaging	Het
Fxr2	T	A	11: 69,530,253 (GRCm39)	I40N	probably damaging	Het
Gm7168	A	G	17: 14,170,117 (GRCm39)	K495E	probably benign	Het
Gria2	C	T	3: 80,639,392 (GRCm39)	V207I	probably benign	Het
Ifna6	G	C	4: 88,746,099 (GRCm39)	R149S	probably benign	Het
Ifna6	C	A	4: 88,746,086 (GRCm39)	T145K	probably benign	Het
Igf2r	T	C	17: 12,905,611 (GRCm39)	H2240R	probably damaging	Het
Ighv8-9	G	A	12: 115,432,066 (GRCm39)	P82S	probably benign	Het
Itpr3	T	C	17: 27,310,525 (GRCm39)	V436A	probably benign	Het
Ldb3	T	G	14: 34,251,460 (GRCm39)	D609A	probably damaging	Het
Lgalsl2	G	T	7: 5,362,668 (GRCm39)	D100Y	probably benign	Het
Luc7l	C	A	17: 26,485,335 (GRCm39)	Q112K	probably damaging	Het
Marchf4	C	T	1: 72,491,734 (GRCm39)	R179H	probably damaging	Het
Myt1l	A	G	12: 29,960,788 (GRCm39)	T75A	probably benign	Het
Or5t9	A	T	2: 86,659,198 (GRCm39)	D34V	probably benign	Het
Or8h10	A	T	2: 86,808,805 (GRCm39)	C112S	possibly damaging	Het
Parp4	C	T	14: 56,851,181 (GRCm39)	T728M	probably damaging	Het
Ppp1r10	A	G	17: 36,239,384 (GRCm39)	T398A	possibly damaging	Het
Rph3a	C	T	5: 121,085,990 (GRCm39)	G482D	probably damaging	Het
Rtel1	T	A	2: 180,991,765 (GRCm39)	F388I	probably benign	Het
Slc12a6	G	A	2: 112,177,662 (GRCm39)	V594I	probably benign	Het
Slc2a4	G	A	11: 69,836,942 (GRCm39)	S134F	probably damaging	Het
Tead4	A	T	6: 128,225,062 (GRCm39)		probably null	Het
Usp40	G	A	1: 87,877,701 (GRCm39)	Q1152*	probably null	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
R1346:Ppp4c	UTSW	7	126,391,222 (GRCm39)	splice site	probably benign
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
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'- TCGCTCTTACTCCACTAGAAAC -3'
(R):5'- TAATTGTCCGAGGCCCCTCTAG -3'

Sequencing Primer
(F):5'- ATACACAGCCGCCCCGTG -3'
(R):5'- TAGGCCACCGTCCTTAGC -3'

Posted On

2015-07-22