Mutagenetix > Incidental Mutation

Incidental Mutation 'R6785:Ppp6c'

531596

Institutional Source

Beutler Lab

Gene Symbol

Ppp6c

Ensembl Gene

ENSMUSG00000026753

Gene Name

protein phosphatase 6, catalytic subunit

Synonyms

2310003C10Rik

MMRRC Submission

044899-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6785 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39084381-39116361 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 39087593 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 204 (H204Q)

Ref Sequence

ENSEMBL: ENSMUSP00000145157 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028087] [ENSMUST00000204257] [ENSMUST00000204368] [ENSMUST00000204701]

AlphaFold

Q9CQR6

Predicted Effect

probably benign
Transcript: ENSMUST00000028087
AA Change: H226Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000028087
Gene: ENSMUSG00000026753
AA Change: H226Q

Domain	Start	End	E-Value	Type
PP2Ac	19	289	3.36e-144	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000204257

SMART Domains

Protein: ENSMUSP00000145064
Gene: ENSMUSG00000026753

Domain	Start	End	E-Value	Type
PDB:4IYP\|C	1	75	3e-14	PDB
SCOP:d1auia_	5	57	5e-16	SMART
Blast:PP2Ac	19	74	1e-21	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000204368

SMART Domains

Protein: ENSMUSP00000145393
Gene: ENSMUSG00000026753

Domain	Start	End	E-Value	Type
PP2Ac	1	84	2.5e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000204701
AA Change: H204Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000145157
Gene: ENSMUSG00000026753
AA Change: H204Q

Domain	Start	End	E-Value	Type
PP2Ac	19	267	1.94e-117	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

98% (59/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the catalytic subunit of protein phosphatase, a component of a signaling pathway regulating cell cycle progression. Splice variants encoding different protein isoforms exist. The pseudogene of this gene is located on chromosome X. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal embryonic development and embryonic lethality. Mice homozygous for a conditional allele activated in skin cells exhibit increased susceptibility to chemically induced skin tumors with increased proliferative and inflammatory responses in the skin. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi1	A	G	2: 22,843,479 (GRCm39)	V316A	probably benign	Het
Acad12	T	C	5: 121,747,908 (GRCm39)	Y170C	probably damaging	Het
Acss2	T	C	2: 155,402,605 (GRCm39)	V587A	probably damaging	Het
Adamtsl3	A	G	7: 82,171,212 (GRCm39)	I422V	probably damaging	Het
Aldh18a1	A	G	19: 40,556,788 (GRCm39)	L375P	probably damaging	Het
B020011L13Rik	A	G	1: 117,728,799 (GRCm39)	D102G	possibly damaging	Het
Cfap74	T	A	4: 155,538,481 (GRCm39)		probably benign	Het
Coa4	G	A	7: 100,188,460 (GRCm39)	V58M	probably damaging	Het
Crybg1	T	C	10: 43,875,167 (GRCm39)	N647S	probably benign	Het
Dync1h1	G	A	12: 110,596,113 (GRCm39)	G1547S	probably damaging	Het
Espnl	A	G	1: 91,249,943 (GRCm39)	D30G	probably benign	Het
Fasl	T	A	1: 161,609,404 (GRCm39)	Y194F	probably benign	Het
Fbxw8	T	C	5: 118,230,754 (GRCm39)	E349G	probably damaging	Het
Gen1	A	G	12: 11,312,531 (GRCm39)	V13A	possibly damaging	Het
Gm4559	A	G	7: 141,827,845 (GRCm39)	C86R	unknown	Het
H2-M9	T	C	17: 36,953,125 (GRCm39)	N61D	probably damaging	Het
H6pd	C	T	4: 150,067,247 (GRCm39)	E380K	possibly damaging	Het
Herc1	TCCC	TCC	9: 66,408,470 (GRCm39)		probably null	Het
Hnrnpd	C	A	5: 100,126,283 (GRCm39)	K67N	probably benign	Het
Hspg2	T	C	4: 137,235,709 (GRCm39)	S170P	probably damaging	Het
Igsf10	G	T	3: 59,226,665 (GRCm39)	P2336Q	probably damaging	Het
Itih3	C	T	14: 30,634,572 (GRCm39)		probably null	Het
Katnb1	T	C	8: 95,822,270 (GRCm39)	Y298H	probably benign	Het
Kif21a	A	T	15: 90,819,933 (GRCm39)	N1610K	probably damaging	Het
Lce1l	A	T	3: 92,757,500 (GRCm39)	C119*	probably null	Het
Lcn2	C	T	2: 32,277,039 (GRCm39)		probably null	Het
Lmf2	A	T	15: 89,236,236 (GRCm39)	S588T	probably benign	Het
Mboat7	A	G	7: 3,688,835 (GRCm39)	L231P	probably benign	Het
Mier2	T	C	10: 79,380,547 (GRCm39)	R288G	probably damaging	Het
Mybbp1a	T	C	11: 72,338,392 (GRCm39)	V694A	probably benign	Het
Ndnf	C	A	6: 65,680,047 (GRCm39)	L109I	probably benign	Het
Nfkb1	C	A	3: 135,321,064 (GRCm39)	E230D	probably benign	Het
Nostrin	A	G	2: 69,014,271 (GRCm39)	K409R	probably benign	Het
Or1j10	A	G	2: 36,266,854 (GRCm39)	Q22R	probably benign	Het
Or1j10	C	A	2: 36,266,963 (GRCm39)	Y58*	probably null	Het
Or8k35	T	A	2: 86,424,765 (GRCm39)	M136L	probably damaging	Het
Pdpr	C	A	8: 111,851,243 (GRCm39)	T534N	probably benign	Het
Plekhf1	G	A	7: 37,921,488 (GRCm39)	Q27*	probably null	Het
Prrc2c	T	C	1: 162,536,670 (GRCm39)		probably benign	Het
Prrg2	A	G	7: 44,709,649 (GRCm39)	F83L	probably damaging	Het
Rab11fip3	T	G	17: 26,210,692 (GRCm39)	D938A	probably damaging	Het
Rai1	A	G	11: 60,079,620 (GRCm39)	N1228S	probably benign	Het
Ryr1	G	T	7: 28,764,299 (GRCm39)	T3060K	probably benign	Het
Scube2	A	G	7: 109,409,824 (GRCm39)	I557T	probably benign	Het
Setdb1	C	A	3: 95,233,712 (GRCm39)	R1066L	probably benign	Het
Shoc1	T	C	4: 59,049,066 (GRCm39)	M1100V	probably benign	Het
Slc35f3	T	C	8: 127,121,198 (GRCm39)	V353A	probably benign	Het
Slfn3	A	T	11: 83,105,427 (GRCm39)	T475S	possibly damaging	Het
Snrnp200	T	A	2: 127,071,085 (GRCm39)	M1122K	possibly damaging	Het
Tead4	T	A	6: 128,219,444 (GRCm39)	K223*	probably null	Het
Tex2	A	C	11: 106,424,776 (GRCm39)	I334R	probably damaging	Het
Tfdp1	C	T	8: 13,420,485 (GRCm39)	R105W	probably damaging	Het
Tfdp1	G	T	8: 13,427,233 (GRCm39)	V393F	possibly damaging	Het
Thsd7b	T	C	1: 129,358,644 (GRCm39)	L26P	probably damaging	Het
Trim80	T	C	11: 115,332,027 (GRCm39)	I73T	probably damaging	Het
Tssk4	T	A	14: 55,887,932 (GRCm39)	Y43N	probably damaging	Het
Ttn	T	C	2: 76,541,839 (GRCm39)	T25389A	probably damaging	Het
Ttn	A	T	2: 76,578,288 (GRCm39)	F24202I	probably damaging	Het
Vmn1r177	A	G	7: 23,565,562 (GRCm39)	S105P	probably damaging	Het
Vmn2r40	T	A	7: 8,911,203 (GRCm39)	T697S	probably benign	Het
Zfp267	T	A	3: 36,219,601 (GRCm39)	C541*	probably null	Het

Other mutations in Ppp6c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02066:Ppp6c	APN	2	39,089,683 (GRCm39)	missense	probably benign	0.22
IGL02551:Ppp6c	APN	2	39,096,669 (GRCm39)	missense	probably damaging	1.00
IGL02967:Ppp6c	APN	2	39,116,229 (GRCm39)	missense	probably damaging	0.98
Pepperoncino	UTSW	2	39,090,052 (GRCm39)	critical splice donor site	probably null
R0399:Ppp6c	UTSW	2	39,090,136 (GRCm39)	splice site	probably benign
R0506:Ppp6c	UTSW	2	39,096,660 (GRCm39)	intron	probably benign
R2061:Ppp6c	UTSW	2	39,116,186 (GRCm39)	missense	probably damaging	0.99
R2180:Ppp6c	UTSW	2	39,087,525 (GRCm39)	missense	probably benign	0.01
R5625:Ppp6c	UTSW	2	39,087,453 (GRCm39)	missense	probably benign
R5822:Ppp6c	UTSW	2	39,090,064 (GRCm39)	nonsense	probably null
R5994:Ppp6c	UTSW	2	39,101,004 (GRCm39)	missense	possibly damaging	0.95
R7346:Ppp6c	UTSW	2	39,116,229 (GRCm39)	missense	probably damaging	0.98
R9069:Ppp6c	UTSW	2	39,094,928 (GRCm39)	missense	probably damaging	1.00
R9344:Ppp6c	UTSW	2	39,090,052 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGGAACTGCTCGGAATAACTTTG -3'
(R):5'- GTGGTGATCACTGCACCTTC -3'

Sequencing Primer
(F):5'- AACTGCTCGGAATAACTTTGGTTCTC -3'
(R):5'- CCTCAGACACTTGTAATTGTGGAC -3'

Posted On

2018-08-29