Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02066:Ppp6c'

185633

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppp6c

Ensembl Gene

ENSMUSG00000026753

Gene Name

protein phosphatase 6, catalytic subunit

Synonyms

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02066

Quality Score

Status

Chromosome

Chromosomal Location

39194354-39226451 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39199671 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 199 (T199A)

Ref Sequence

ENSEMBL: ENSMUSP00000145157 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000028087
AA Change: T221A

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000028087
Gene: ENSMUSG00000026753
AA Change: T221A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143733

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: T199A

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000145157
Gene: ENSMUSG00000026753
AA Change: T199A

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

Coding Region Coverage

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	G	A	11: 78,273,232	R1133H	probably damaging	Het
A2m	T	A	6: 121,649,895	C569S	probably damaging	Het
Adck5	T	C	15: 76,595,206	V487A	probably damaging	Het
Agfg1	A	G	1: 82,893,558	T483A	probably damaging	Het
Akr1c12	T	C	13: 4,276,237	T82A	probably damaging	Het
Ano2	T	A	6: 125,690,739	L6Q	probably benign	Het
Anp32a	G	A	9: 62,377,333		probably benign	Het
Cep250	C	A	2: 155,976,521	A871D	probably damaging	Het
Chl1	T	C	6: 103,698,224	V624A	probably benign	Het
Clasp1	G	A	1: 118,565,260		probably null	Het
Clca3a2	T	G	3: 144,813,455	D320A	probably benign	Het
Cnot9	A	G	1: 74,527,053	Q201R	possibly damaging	Het
Cox4i2	C	T	2: 152,760,682	R99C	probably damaging	Het
Csmd1	A	T	8: 15,926,594	F2875I	probably damaging	Het
Dpagt1	A	G	9: 44,331,906	Y246C	probably damaging	Het
Dsc1	A	G	18: 20,108,803		probably benign	Het
Eef1d	G	A	15: 75,896,855	T464I	probably benign	Het
Efna2	C	T	10: 80,188,666		probably benign	Het
Etaa1	C	A	11: 17,946,687	V477L	probably benign	Het
Fam189b	C	T	3: 89,188,596	R545*	probably null	Het
Fam83d	C	T	2: 158,785,873	T494M	probably benign	Het
Fbxo24	C	T	5: 137,612,870	V553M	probably damaging	Het
Gal3st2	A	G	1: 93,873,657	T12A	probably damaging	Het
Gba2	G	A	4: 43,570,175	T373I	probably benign	Het
Kitl	T	A	10: 100,076,882	C154S	probably damaging	Het
Lrp1b	A	T	2: 41,111,079	C2044*	probably null	Het
Lrp6	G	T	6: 134,450,937	S1564*	probably null	Het
Manea	A	T	4: 26,340,965		probably benign	Het
Myt1	T	C	2: 181,797,189	L168P	probably damaging	Het
Notch1	T	C	2: 26,460,396	E2244G	possibly damaging	Het
Nsd3	T	G	8: 25,713,488	V1343G	probably damaging	Het
Nup155	T	C	15: 8,157,766		probably benign	Het
Obox6	T	C	7: 15,834,703	I83V	probably benign	Het
Olfr358	A	T	2: 37,005,309	F102I	probably damaging	Het
Olfr538	A	T	7: 140,574,500	T116S	possibly damaging	Het
Pdgfra	T	C	5: 75,170,580	V282A	possibly damaging	Het
Pkd1l2	A	G	8: 117,009,564		probably benign	Het
Pmfbp1	A	T	8: 109,541,733	I971F	possibly damaging	Het
Ptpa	A	G	2: 30,443,296	T3A	possibly damaging	Het
Rb1	A	T	14: 73,198,534	M897K	probably benign	Het
Rptn	A	C	3: 93,397,129	S590R	probably benign	Het
Rreb1	A	G	13: 37,931,506	D947G	probably benign	Het
Samd9l	T	C	6: 3,376,575	T229A	probably damaging	Het
Slc5a9	A	T	4: 111,887,522	M423K	probably damaging	Het
Slc6a12	T	A	6: 121,352,056	I111N	probably damaging	Het
Slc6a15	T	A	10: 103,416,658	L561I	probably damaging	Het
Spag5	A	G	11: 78,304,532	N222D	probably benign	Het
Spp2	G	A	1: 88,417,243	M54I	probably benign	Het
Sptbn4	T	C	7: 27,364,515	E847G	possibly damaging	Het
Timd2	T	A	11: 46,678,223	N203Y	probably damaging	Het
Togaram1	G	T	12: 64,983,421	D1000Y	probably damaging	Het
Usp47	C	T	7: 112,064,397	R258C	probably damaging	Het
Uts2r	A	C	11: 121,160,697	D129A	probably damaging	Het
Vmn2r102	G	A	17: 19,693,929	M585I	probably benign	Het
Vmn2r77	A	T	7: 86,803,628	R518*	probably null	Het
Wdfy4	C	T	14: 33,149,566	R296K	probably benign	Het
Xirp2	A	T	2: 67,526,071	K3725N	probably benign	Het
Xntrpc	T	C	7: 102,077,829	S142P	probably benign	Het
Zfat	T	C	15: 68,180,829	H372R	probably damaging	Het

Other mutations in Ppp6c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02551:Ppp6c	APN	2	39206657	missense	probably damaging	1.00
IGL02967:Ppp6c	APN	2	39226217	missense	probably damaging	0.98
R0399:Ppp6c	UTSW	2	39200124	splice site	probably benign
R0506:Ppp6c	UTSW	2	39206648	intron	probably benign
R2061:Ppp6c	UTSW	2	39226174	missense	probably damaging	0.99
R2180:Ppp6c	UTSW	2	39197513	missense	probably benign	0.01
R5625:Ppp6c	UTSW	2	39197441	missense	probably benign
R5822:Ppp6c	UTSW	2	39200052	nonsense	probably null
R5994:Ppp6c	UTSW	2	39210992	missense	possibly damaging	0.95
R6785:Ppp6c	UTSW	2	39197581	missense	probably benign	0.00
R7346:Ppp6c	UTSW	2	39226217	missense	probably damaging	0.98

Posted On

2014-05-07