Mutagenetix > Incidental Mutation

Incidental Mutation 'R2061:Ppp6c'

316210

Institutional Source

Beutler Lab

Gene Symbol

Ppp6c

Ensembl Gene

ENSMUSG00000026753

Gene Name

protein phosphatase 6, catalytic subunit

Synonyms

MMRRC Submission

040066-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2061 (G1)

Quality Score

211

Status

Validated

Chromosome

Chromosomal Location

39194354-39226451 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 39226174 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 23 (D23A)

Ref Sequence

ENSEMBL: ENSMUSP00000145064 (fasta)

Gene Model

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

AlphaFold

Q9CQR6

Predicted Effect

probably damaging
Transcript: ENSMUST00000028087
AA Change: D23A

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000028087
Gene: ENSMUSG00000026753
AA Change: D23A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000204257
AA Change: D23A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000145064
Gene: ENSMUSG00000026753
AA Change: D23A

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

possibly damaging
Transcript: ENSMUST00000204701
AA Change: D23A

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000145157
Gene: ENSMUSG00000026753
AA Change: D23A

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

Meta Mutation Damage Score

0.2840

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

99% (124/125)

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: 122 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	T	C	9: 103,268,314 (GRCm38)	M395V	probably benign	Het
2610507B11Rik	T	A	11: 78,268,749 (GRCm38)	C541*	probably null	Het
9130011E15Rik	C	T	19: 45,978,667 (GRCm38)	R12Q	probably damaging	Het
A4gnt	T	C	9: 99,620,359 (GRCm38)	S191P	probably damaging	Het
AI314180	G	T	4: 58,824,270 (GRCm38)	P1116T	probably damaging	Het
Ak2	C	T	4: 129,008,197 (GRCm38)	A221V	probably damaging	Het
Akap9	T	A	5: 3,961,010 (GRCm38)	V571E	probably damaging	Het
Amph	G	T	13: 19,125,035 (GRCm38)	E428*	probably null	Het
Arnt2	T	A	7: 84,343,870 (GRCm38)	D154V	probably damaging	Het
Arrdc1	G	A	2: 24,926,352 (GRCm38)	Q202*	probably null	Het
Ate1	A	G	7: 130,510,913 (GRCm38)	C72R	probably damaging	Het
Atox1	A	G	11: 55,454,898 (GRCm38)	V22A	possibly damaging	Het
Bbs12	A	T	3: 37,319,066 (GRCm38)	M3L	probably damaging	Het
BC067074	T	A	13: 113,318,094 (GRCm38)	W225R	probably damaging	Het
Bfsp1	A	G	2: 143,862,678 (GRCm38)	V85A	probably benign	Het
Caskin2	C	A	11: 115,803,630 (GRCm38)	V382F	probably benign	Het
Ccdc39	T	A	3: 33,819,896 (GRCm38)	M596L	probably damaging	Het
Cd22	A	C	7: 30,876,156 (GRCm38)	Y154D	probably benign	Het
Cd22	C	T	7: 30,870,105 (GRCm38)	V529M	probably damaging	Het
Cdadc1	T	A	14: 59,581,334 (GRCm38)	E348D	probably damaging	Het
Cdhr2	T	C	13: 54,720,818 (GRCm38)	V531A	probably damaging	Het
Cdk11b	A	G	4: 155,641,604 (GRCm38)		probably benign	Het
Cebpa	G	T	7: 35,119,522 (GRCm38)	R35L	probably damaging	Het
Chat	T	C	14: 32,446,873 (GRCm38)	N235S	probably benign	Het
Col12a1	T	A	9: 79,617,705 (GRCm38)	I2725F	possibly damaging	Het
Cracr2b	A	G	7: 141,465,280 (GRCm38)	E231G	probably damaging	Het
Cryaa	G	T	17: 31,681,055 (GRCm38)	A151S	probably benign	Het
Dab1	A	T	4: 104,678,741 (GRCm38)	I116F	probably damaging	Het
Ddx43	C	A	9: 78,396,104 (GRCm38)	N75K	probably benign	Het
Dmbt1	T	G	7: 131,099,133 (GRCm38)	C1014G	possibly damaging	Het
Dner	C	A	1: 84,405,989 (GRCm38)	C558F	probably damaging	Het
Dsc2	A	G	18: 20,032,399 (GRCm38)	V839A	possibly damaging	Het
Dsg3	C	T	18: 20,527,737 (GRCm38)	R378*	probably null	Het
Emilin1	C	T	5: 30,917,738 (GRCm38)	P441L	possibly damaging	Het
Epha6	T	C	16: 59,655,797 (GRCm38)	M1069V	probably damaging	Het
F930017D23Rik	A	C	10: 43,604,420 (GRCm38)		noncoding transcript	Het
Faf1	A	T	4: 109,710,808 (GRCm38)	N22Y	probably damaging	Het
Flrt3	A	T	2: 140,661,453 (GRCm38)	V85E	probably damaging	Het
Gadl1	T	A	9: 115,941,380 (GRCm38)	I87N	probably damaging	Het
Galnt14	A	G	17: 73,512,153 (GRCm38)	F314S	probably damaging	Het
Gba2	A	T	4: 43,574,029 (GRCm38)	Y141*	probably null	Het
Gdap1	A	T	1: 17,145,465 (GRCm38)		probably benign	Het
Gfod1	A	T	13: 43,303,243 (GRCm38)		probably null	Het
Gm14295	C	T	2: 176,810,681 (GRCm38)	R655*	probably null	Het
Gm4353	A	G	7: 116,083,699 (GRCm38)	S216P	probably damaging	Het
Gm6605	T	A	7: 38,448,282 (GRCm38)		noncoding transcript	Het
Hectd1	A	T	12: 51,794,444 (GRCm38)	D634E	probably damaging	Het
Helz2	A	G	2: 181,240,544 (GRCm38)	I152T	probably damaging	Het
Hivep1	A	G	13: 42,160,124 (GRCm38)	K1947E	possibly damaging	Het
Ifrd1	A	T	12: 40,213,245 (GRCm38)	F144L	probably benign	Het
Itgae	A	T	11: 73,118,622 (GRCm38)	Q544L	probably benign	Het
Jmjd1c	A	T	10: 67,218,426 (GRCm38)	E323D	probably damaging	Het
Kdm5a	G	T	6: 120,381,617 (GRCm38)	R207L	probably benign	Het
Kif5b	C	T	18: 6,226,377 (GRCm38)		probably null	Het
Lbp	T	C	2: 158,324,579 (GRCm38)	V351A	probably benign	Het
Lss	A	T	10: 76,546,098 (GRCm38)		probably null	Het
Madd	A	C	2: 91,161,486 (GRCm38)		probably benign	Het
Map6	G	A	7: 99,317,472 (GRCm38)	V503I	probably damaging	Het
Mark1	A	G	1: 184,928,063 (GRCm38)	L22P	probably damaging	Het
Mcfd2	T	C	17: 87,255,976 (GRCm38)	N130D	probably damaging	Het
Mcm3ap	A	G	10: 76,470,068 (GRCm38)	N5S	probably benign	Het
Mdm4	A	T	1: 133,012,651 (GRCm38)	F48I	probably damaging	Het
Mga	A	T	2: 119,964,980 (GRCm38)		probably benign	Het
Mknk2	A	T	10: 80,671,557 (GRCm38)		probably null	Het
Mmp15	T	C	8: 95,370,779 (GRCm38)	Y459H	possibly damaging	Het
Mthfd1l	A	G	10: 4,103,288 (GRCm38)	K879R	probably benign	Het
Mycbp2	T	C	14: 103,287,260 (GRCm38)	K655E	probably damaging	Het
Nasp	T	C	4: 116,611,126 (GRCm38)	N221D	probably benign	Het
Ndc80	T	C	17: 71,514,218 (GRCm38)	E245G	probably benign	Het
Nmral1	C	T	16: 4,716,329 (GRCm38)	E83K	probably damaging	Het
Noa1	T	A	5: 77,304,187 (GRCm38)	Q550L	possibly damaging	Het
Nutm1	A	T	2: 112,255,752 (GRCm38)	Y211*	probably null	Het
Olfr1420	T	A	19: 11,896,557 (GRCm38)	Y179N	probably damaging	Het
Olfr1474	A	G	19: 13,471,241 (GRCm38)	I90M	probably damaging	Het
Olfr148	G	T	9: 39,613,775 (GRCm38)	M69I	probably benign	Het
Olfr700	A	C	7: 106,805,768 (GRCm38)	H231Q	probably benign	Het
Olfr723	T	C	14: 49,929,021 (GRCm38)	I174M	possibly damaging	Het
Otoa	T	C	7: 121,131,328 (GRCm38)	F584L	probably damaging	Het
Palb2	G	A	7: 122,124,525 (GRCm38)	T304I	possibly damaging	Het
Pcolce2	A	T	9: 95,670,176 (GRCm38)	M121L	probably benign	Het
Pcsk5	T	C	19: 17,454,872 (GRCm38)	T1460A	probably benign	Het
Pdzrn4	A	T	15: 92,770,160 (GRCm38)	D731V	probably damaging	Het
Pex11b	C	A	3: 96,635,721 (GRCm38)	Q12K	possibly damaging	Het
Pigw	G	C	11: 84,877,310 (GRCm38)	Q398E	probably benign	Het
Pkd1	A	G	17: 24,569,914 (GRCm38)	E882G	possibly damaging	Het
Pkhd1	A	T	1: 20,612,812 (GRCm38)	N55K	possibly damaging	Het
Plch2	A	T	4: 155,042,841 (GRCm38)		probably benign	Het
Plcl1	T	A	1: 55,751,345 (GRCm38)	L1058Q	probably benign	Het
Ppfia2	T	C	10: 106,837,329 (GRCm38)	S511P	possibly damaging	Het
Ppfibp2	T	C	7: 107,739,230 (GRCm38)	L676P	probably damaging	Het
Pqlc1	G	T	18: 80,291,715 (GRCm38)	A232S	probably benign	Het
Prss30	G	A	17: 23,974,668 (GRCm38)		probably benign	Het
Ptprz1	T	C	6: 23,049,675 (GRCm38)		probably null	Het
Rec114	T	A	9: 58,652,905 (GRCm38)		probably benign	Het
Ryr2	T	C	13: 11,665,878 (GRCm38)		probably null	Het
Ryr3	A	T	2: 112,663,004 (GRCm38)	I3715N	possibly damaging	Het
Scin	T	C	12: 40,080,948 (GRCm38)	Y322C	probably damaging	Het
Scn3a	A	G	2: 65,461,308 (GRCm38)	V1698A	probably damaging	Het
Scn5a	G	A	9: 119,485,651 (GRCm38)	S1996L	probably damaging	Het
Serpinb2	A	G	1: 107,522,795 (GRCm38)	K174R	possibly damaging	Het
Slc16a4	T	C	3: 107,300,711 (GRCm38)	I179T	probably benign	Het
Slc35b1	T	G	11: 95,385,892 (GRCm38)	F102V	possibly damaging	Het
Slc6a15	A	G	10: 103,409,734 (GRCm38)	D526G	probably benign	Het
Spata16	A	G	3: 26,924,370 (GRCm38)	D495G	probably damaging	Het
Stk11ip	G	A	1: 75,529,584 (GRCm38)	E583K	possibly damaging	Het
Stk-ps1	T	G	17: 36,398,152 (GRCm38)		noncoding transcript	Het
Sufu	T	A	19: 46,397,212 (GRCm38)	I37N	probably damaging	Het
Tacr1	C	T	6: 82,492,554 (GRCm38)	P140S	probably damaging	Het
Tas1r3	G	A	4: 155,860,470 (GRCm38)	R765C	probably damaging	Het
Tenm3	C	T	8: 48,342,256 (GRCm38)		probably null	Het
Tex36	A	T	7: 133,595,223 (GRCm38)	I55N	probably damaging	Het
Tmem150c	T	C	5: 100,080,028 (GRCm38)	Y192C	probably damaging	Het
Tmem237	A	G	1: 59,120,286 (GRCm38)		probably benign	Het
Trim11	A	G	11: 58,982,063 (GRCm38)	E191G	probably damaging	Het
Ttll3	C	T	6: 113,409,042 (GRCm38)	A612V	possibly damaging	Het
Ttn	G	A	2: 76,977,122 (GRCm38)	A89V	probably damaging	Het
Usp37	A	G	1: 74,468,272 (GRCm38)	F529L	probably damaging	Het
Vmn1r217	A	C	13: 23,114,528 (GRCm38)	V68G	probably benign	Het
Vwf	T	C	6: 125,591,188 (GRCm38)	S349P	probably damaging	Het
Wt1	G	A	2: 105,131,157 (GRCm38)		probably null	Het
Zcchc7	T	A	4: 44,895,838 (GRCm38)	L262H	probably damaging	Het
Zfp873	A	G	10: 82,060,157 (GRCm38)	S241G	probably benign	Het

Other mutations in Ppp6c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02066:Ppp6c	APN	2	39,199,671 (GRCm38)	missense	probably benign	0.22
IGL02551:Ppp6c	APN	2	39,206,657 (GRCm38)	missense	probably damaging	1.00
IGL02967:Ppp6c	APN	2	39,226,217 (GRCm38)	missense	probably damaging	0.98
Pepperoncino	UTSW	2	39,200,040 (GRCm38)	critical splice donor site	probably null
R0399:Ppp6c	UTSW	2	39,200,124 (GRCm38)	splice site	probably benign
R0506:Ppp6c	UTSW	2	39,206,648 (GRCm38)	intron	probably benign
R2180:Ppp6c	UTSW	2	39,197,513 (GRCm38)	missense	probably benign	0.01
R5625:Ppp6c	UTSW	2	39,197,441 (GRCm38)	missense	probably benign
R5822:Ppp6c	UTSW	2	39,200,052 (GRCm38)	nonsense	probably null
R5994:Ppp6c	UTSW	2	39,210,992 (GRCm38)	missense	possibly damaging	0.95
R6785:Ppp6c	UTSW	2	39,197,581 (GRCm38)	missense	probably benign	0.00
R7346:Ppp6c	UTSW	2	39,226,217 (GRCm38)	missense	probably damaging	0.98
R9069:Ppp6c	UTSW	2	39,204,916 (GRCm38)	missense	probably damaging	1.00
R9344:Ppp6c	UTSW	2	39,200,040 (GRCm38)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AAGAACTGGACAGCATTCGG -3'
(R):5'- TTTTACGTCGCTTCGCAGAC -3'

Sequencing Primer
(F):5'- TGGACAGCATTCGGGGGATC -3'
(R):5'- AGACGCCACTCACGGATCG -3'

Posted On

2015-05-15