Mutagenetix > Incidental Mutation

Incidental Mutation 'R6776:Ppp2r3c'

531307

Institutional Source

Beutler Lab

Gene Symbol

Ppp2r3c

Ensembl Gene

ENSMUSG00000021022

Gene Name

protein phosphatase 2, regulatory subunit B'', gamma

Synonyms

G5pr, G4-1, 4930511A21Rik, 5730412A08Rik

MMRRC Submission

044892-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R6776 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55327594-55350024 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 55345252 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 79 (R79*)

Ref Sequence

ENSEMBL: ENSMUSP00000021410 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021410] [ENSMUST00000021411] [ENSMUST00000183475] [ENSMUST00000183654] [ENSMUST00000184766] [ENSMUST00000184980]

AlphaFold

Q9JK24

Predicted Effect

probably null
Transcript: ENSMUST00000021410
AA Change: R79*

SMART Domains

Protein: ENSMUSP00000021410
Gene: ENSMUSG00000021022
AA Change: R79*

Domain	Start	End	E-Value	Type
PDB:4I5K\|B	188	437	1e-25	PDB
SCOP:d1dgua_	258	413	4e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000021411

SMART Domains

Protein: ENSMUSP00000021411
Gene: ENSMUSG00000021023

Domain	Start	End	E-Value	Type
Pfam:PRORP	339	575	4.8e-106	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000183475

SMART Domains

Protein: ENSMUSP00000139252
Gene: ENSMUSG00000021023

Domain	Start	End	E-Value	Type
low complexity region	410	424	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183654

SMART Domains

Protein: ENSMUSP00000138821
Gene: ENSMUSG00000021023

Domain	Start	End	E-Value	Type
Pfam:RNase_Zc3h12a	33	185	8e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000184766

SMART Domains

Protein: ENSMUSP00000139204
Gene: ENSMUSG00000021023

Domain	Start	End	E-Value	Type
PDB:4G26\|A	153	581	1e-9	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000184980

SMART Domains

Protein: ENSMUSP00000139123
Gene: ENSMUSG00000021023

Domain	Start	End	E-Value	Type
low complexity region	113	127	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a regulatory subunit of the serine/threonine phosphatase, protein phosphatase 2. This protein is localized to both nuclear and cytoplasmic regions depending on cell cycle phase. Homozygous conditional knockout mice for this gene exhibit reduced numbers and impaired proliferation of immune system B cells. This protein may regulate the expression of the P-glycoprotein ATP-binding cassette transporter through its phosphatase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd13	A	G	8: 10,038,075 (GRCm39)	H224R	probably benign	Het
Anapc10	T	C	8: 80,446,374 (GRCm39)	F68S	probably damaging	Het
Arid2	A	G	15: 96,268,830 (GRCm39)	N981S	probably benign	Het
Bmerb1	T	A	16: 13,804,670 (GRCm39)	S6T	possibly damaging	Het
Cfap73	A	G	5: 120,772,276 (GRCm39)	F9L	probably damaging	Het
Chd3	A	C	11: 69,245,296 (GRCm39)	L1141V	probably damaging	Het
Daam1	C	T	12: 72,036,582 (GRCm39)	L1052F	possibly damaging	Het
Dmxl1	C	T	18: 50,027,041 (GRCm39)	R2050C	probably damaging	Het
Dpp10	G	A	1: 123,295,385 (GRCm39)	Q552*	probably null	Het
Dysf	A	G	6: 84,041,876 (GRCm39)	D160G	possibly damaging	Het
Ecrg4	C	A	1: 43,781,551 (GRCm39)	N144K	probably damaging	Het
Firrm	T	C	1: 163,804,318 (GRCm39)	I338M	probably damaging	Het
Foxp1	TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	6: 99,052,926 (GRCm39)		probably benign	Het
Ftcd	T	C	10: 76,425,073 (GRCm39)	I518T	probably benign	Het
Gapdh	A	G	6: 125,139,236 (GRCm39)	S248P	probably damaging	Het
Gm5592	C	G	7: 40,939,153 (GRCm39)	P812A	probably damaging	Het
Grik2	G	A	10: 49,232,085 (GRCm39)	L482F	probably damaging	Het
Gzmg	C	T	14: 56,394,288 (GRCm39)	G202D	probably damaging	Het
Hectd4	G	A	5: 121,491,574 (GRCm39)	A3671T	possibly damaging	Het
Hexa	G	T	9: 59,465,355 (GRCm39)	W203C	probably damaging	Het
Igdcc4	A	T	9: 65,042,700 (GRCm39)	T1217S	probably benign	Het
Ipo7	A	G	7: 109,646,272 (GRCm39)	D557G	probably damaging	Het
Irx3	T	A	8: 92,526,463 (GRCm39)	T414S	probably benign	Het
Jakmip1	G	A	5: 37,344,498 (GRCm39)	E1313K	probably damaging	Het
Kbtbd12	T	C	6: 88,595,248 (GRCm39)	D194G	probably damaging	Het
Klk6	T	C	7: 43,476,298 (GRCm39)	L46P	probably damaging	Het
Krt86	T	C	15: 101,374,817 (GRCm39)	I329T	probably benign	Het
Mroh5	A	G	15: 73,661,817 (GRCm39)		probably null	Het
Mtrf1	T	C	14: 79,650,521 (GRCm39)	V323A	probably damaging	Het
Oas3	A	T	5: 120,896,939 (GRCm39)	I894N	probably damaging	Het
Oplah	C	T	15: 76,185,053 (GRCm39)	V887I	possibly damaging	Het
Pag1	T	C	3: 9,764,848 (GRCm39)	T102A	probably benign	Het
Pcnx1	C	T	12: 82,009,496 (GRCm39)	A1181V	possibly damaging	Het
Pkdrej	G	T	15: 85,701,510 (GRCm39)	Y1475*	probably null	Het
Pla2g5	A	G	4: 138,527,964 (GRCm39)	S101P	probably benign	Het
Plekha4	C	A	7: 45,184,241 (GRCm39)	A76E	probably damaging	Het
Plk2	T	C	13: 110,536,325 (GRCm39)	I592T	probably benign	Het
Ppp2r3d	A	T	9: 101,090,061 (GRCm39)	H87Q	probably benign	Het
Prpf40b	C	T	15: 99,212,784 (GRCm39)	R627W	probably damaging	Het
Prrt4	G	T	6: 29,176,551 (GRCm39)	T258K	possibly damaging	Het
Rhpn2	T	A	7: 35,083,194 (GRCm39)		probably null	Het
Slc11a1	T	A	1: 74,423,244 (GRCm39)	I365N	probably damaging	Het
Slc7a7	C	T	14: 54,612,108 (GRCm39)	G265D	possibly damaging	Het
Thsd7a	T	A	6: 12,555,636 (GRCm39)	T83S	possibly damaging	Het
Tln2	A	G	9: 67,170,187 (GRCm39)	S1989P	probably damaging	Het
Tnfaip3	T	G	10: 18,881,324 (GRCm39)	T321P	probably benign	Het
Tnrc6b	C	T	15: 80,808,320 (GRCm39)	P1623L	possibly damaging	Het
Trpa1	T	C	1: 14,982,601 (GRCm39)	N85S	probably benign	Het
Trrap	C	T	5: 144,788,066 (GRCm39)	R3544*	probably null	Het
Ttf2	A	T	3: 100,859,869 (GRCm39)	V695E	probably benign	Het
Ttll4	A	G	1: 74,720,512 (GRCm39)	E509G	probably damaging	Het
Vdr	T	C	15: 97,767,709 (GRCm39)	I94V	probably damaging	Het
Wdfy3	G	T	5: 102,031,911 (GRCm39)	Q2304K	possibly damaging	Het
Zfp663	T	C	2: 165,200,935 (GRCm39)	Y33C	probably damaging	Het

Other mutations in Ppp2r3c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00928:Ppp2r3c	APN	12	55,339,283 (GRCm39)	splice site	probably null
IGL01122:Ppp2r3c	APN	12	55,344,587 (GRCm39)	missense	probably benign	0.20
IGL01954:Ppp2r3c	APN	12	55,339,353 (GRCm39)	missense	probably damaging	1.00
IGL02939:Ppp2r3c	APN	12	55,345,192 (GRCm39)	unclassified	probably benign
R0045:Ppp2r3c	UTSW	12	55,340,606 (GRCm39)	missense	probably damaging	0.99
R0129:Ppp2r3c	UTSW	12	55,345,207 (GRCm39)	missense	probably damaging	0.96
R2411:Ppp2r3c	UTSW	12	55,345,269 (GRCm39)	missense	probably benign	0.19
R4468:Ppp2r3c	UTSW	12	55,344,668 (GRCm39)	nonsense	probably null
R4746:Ppp2r3c	UTSW	12	55,349,420 (GRCm39)	splice site	probably null
R5499:Ppp2r3c	UTSW	12	55,335,411 (GRCm39)	missense	probably benign	0.09
R5724:Ppp2r3c	UTSW	12	55,344,617 (GRCm39)	missense	probably benign	0.45
R6724:Ppp2r3c	UTSW	12	55,335,281 (GRCm39)	missense	probably benign	0.02
R7706:Ppp2r3c	UTSW	12	55,328,490 (GRCm39)	missense	probably benign	0.23
R8111:Ppp2r3c	UTSW	12	55,344,634 (GRCm39)	missense	probably benign
R8698:Ppp2r3c	UTSW	12	55,328,499 (GRCm39)	missense	probably benign	0.10
R8892:Ppp2r3c	UTSW	12	55,336,453 (GRCm39)	missense	possibly damaging	0.80
R9349:Ppp2r3c	UTSW	12	55,345,268 (GRCm39)	missense	probably benign	0.36
RF006:Ppp2r3c	UTSW	12	55,340,600 (GRCm39)	missense	probably benign	0.24

Predicted Primers

PCR Primer
(F):5'- ATGCACACACTCTGCTTCAGAC -3'
(R):5'- CCCCTCTTTTGAGCTGGTGG -3'

Sequencing Primer
(F):5'- TGCTTCAGACACCTACGCAGTG -3'
(R):5'- GCTTCACCCAGACTGTTA -3'

Posted On

2018-08-29