Mutagenetix > Incidental Mutation

Incidental Mutation 'R8892:Ppp2r3c'

677777

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

068695-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R8892 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55327594-55350024 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55336453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 233 (L233Q)

Ref Sequence

ENSEMBL: ENSMUSP00000021410 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021410]

AlphaFold

Q9JK24

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021410
AA Change: L233Q

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000021410
Gene: ENSMUSG00000021022
AA Change: L233Q

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.6%

Validation Efficiency

100% (76/76)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	A	7: 119,815,606 (GRCm39)	L285I	probably damaging	Het
Abcc2	T	G	19: 43,795,571 (GRCm39)	S442R	possibly damaging	Het
Adgrl3	A	T	5: 81,874,516 (GRCm39)	I938F	probably damaging	Het
Adpgk	A	G	9: 59,217,623 (GRCm39)	Y212C	probably damaging	Het
Ahcyl1	C	T	3: 107,579,378 (GRCm39)	D219N	probably benign	Het
Ap3b1	G	A	13: 94,679,348 (GRCm39)	V997M	unknown	Het
Bbs1	A	C	19: 4,942,954 (GRCm39)	S479A	probably benign	Het
Bean1	A	T	8: 104,943,610 (GRCm39)	D231V	probably damaging	Het
Cacnb1	A	T	11: 97,901,192 (GRCm39)	V220E	probably damaging	Het
Camkv	C	T	9: 107,823,333 (GRCm39)	R120*	probably null	Het
Ccny	T	G	18: 9,345,235 (GRCm39)	S180R	probably damaging	Het
Cdh23	G	T	10: 60,143,284 (GRCm39)	H3012Q	probably damaging	Het
Chd9	A	G	8: 91,660,468 (GRCm39)	N476S	unknown	Het
Clasp2	T	A	9: 113,709,251 (GRCm39)	L680Q	probably damaging	Het
Clip1	A	T	5: 123,717,565 (GRCm39)	S1241R	probably benign	Het
Cramp1	C	T	17: 25,202,114 (GRCm39)	G456D	probably damaging	Het
Csmd3	T	A	15: 47,604,634 (GRCm39)	K1036N		Het
Ctnna1	G	A	18: 35,372,586 (GRCm39)	V514I	possibly damaging	Het
Ddr1	A	C	17: 35,993,556 (GRCm39)	I852S	probably benign	Het
Dhrs1	G	A	14: 55,977,404 (GRCm39)	A238V	possibly damaging	Het
Echs1	A	C	7: 139,688,031 (GRCm39)	L258R	probably damaging	Het
Epha8	G	T	4: 136,661,850 (GRCm39)	H582N	probably benign	Het
Fhod3	G	A	18: 25,189,452 (GRCm39)		probably null	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gpr179	T	C	11: 97,226,590 (GRCm39)	D1855G	possibly damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ipo9	T	C	1: 135,314,544 (GRCm39)	N904S	possibly damaging	Het
Itih3	A	G	14: 30,637,635 (GRCm39)	V508A	probably benign	Het
Klhl14	T	G	18: 21,691,220 (GRCm39)	T437P	possibly damaging	Het
Krt5	T	C	15: 101,619,185 (GRCm39)	M268V	probably benign	Het
Lama4	T	A	10: 38,973,194 (GRCm39)	L1587Q	probably damaging	Het
Lhx4	T	C	1: 155,581,013 (GRCm39)	T171A	possibly damaging	Het
Lrfn2	A	C	17: 49,377,376 (GRCm39)	E152D	probably damaging	Het
Ltn1	A	T	16: 87,229,230 (GRCm39)		probably benign	Het
Ly9	A	T	1: 171,421,465 (GRCm39)	D595E	possibly damaging	Het
Macf1	A	G	4: 123,249,036 (GRCm39)	L7165P	probably damaging	Het
Magi3	C	T	3: 103,958,141 (GRCm39)	G648D	probably damaging	Het
Mgll	T	A	6: 88,743,306 (GRCm39)	C109S	unknown	Het
Micall2	T	A	5: 139,703,254 (GRCm39)	H194L	probably damaging	Het
Mindy4	T	C	6: 55,255,223 (GRCm39)	L567P	probably benign	Het
Mmp16	T	A	4: 18,051,820 (GRCm39)	Y270N	probably damaging	Het
Naa16	A	T	14: 79,628,016 (GRCm39)	F14I	probably benign	Het
Nme6	T	G	9: 109,668,706 (GRCm39)	F41V	probably damaging	Het
Npffr1	A	G	10: 61,449,939 (GRCm39)	N71S	possibly damaging	Het
Or1b1	C	A	2: 36,995,523 (GRCm39)	L46F	probably damaging	Het
Or1p4-ps1	T	C	11: 74,207,949 (GRCm39)	W33R	probably damaging	Het
Or4k41	A	G	2: 111,279,967 (GRCm39)	I161V	probably benign	Het
Pard3b	T	A	1: 62,677,026 (GRCm39)	Y1186N	probably damaging	Het
Pou2f1	A	T	1: 165,708,027 (GRCm39)	S552T	unknown	Het
Prl8a1	G	A	13: 27,766,069 (GRCm39)	H9Y	possibly damaging	Het
Rnf135	C	T	11: 80,074,957 (GRCm39)	T72I	probably benign	Het
Rsf1	A	T	7: 97,328,171 (GRCm39)	I1058F		Het
Slc39a6	A	T	18: 24,729,386 (GRCm39)	Y442*	probably null	Het
Slc44a2	G	A	9: 21,253,153 (GRCm39)		probably benign	Het
Slc4a11	T	G	2: 130,529,140 (GRCm39)	S437R	probably damaging	Het
Spc24	G	A	9: 21,668,994 (GRCm39)	Q98*	probably null	Het
Spock3	T	A	8: 63,404,986 (GRCm39)	Y51*	probably null	Het
Sptbn1	A	G	11: 30,067,800 (GRCm39)	Y1805H	probably benign	Het
Tango6	A	G	8: 107,468,845 (GRCm39)	I780M	probably benign	Het
Tcerg1l	C	T	7: 137,999,260 (GRCm39)	W41*	probably null	Het
Tdrd9	A	G	12: 111,979,718 (GRCm39)	Y401C	probably benign	Het
Tex47	A	T	5: 7,355,115 (GRCm39)	I99F	probably damaging	Het
Tlr9	G	A	9: 106,099,834 (GRCm39)		probably benign	Het
Tmem209	T	A	6: 30,497,942 (GRCm39)	S276C	possibly damaging	Het
Tmprss11f	A	C	5: 86,687,618 (GRCm39)	S97A	possibly damaging	Het
Top6bl	A	G	19: 4,699,721 (GRCm39)	V494A	possibly damaging	Het
Ttc7	T	A	17: 87,637,520 (GRCm39)	M425K	probably damaging	Het
Ttn	C	T	2: 76,739,466 (GRCm39)	G3737D	unknown	Het
Tyk2	T	C	9: 21,027,463 (GRCm39)	H503R	probably benign	Het
Unc13b	A	T	4: 43,176,484 (GRCm39)	R2437S	unknown	Het
Uqcrc1	C	T	9: 108,766,186 (GRCm39)	R58C	probably damaging	Het
Vmn1r160	G	A	7: 22,571,474 (GRCm39)	V276I	probably benign	Het
Vmn2r112	A	G	17: 22,837,612 (GRCm39)	Y691C	probably damaging	Het
Vmn2r87	A	C	10: 130,308,105 (GRCm39)	I711S	probably damaging	Het
Vmn2r94	A	G	17: 18,464,335 (GRCm39)	S652P	possibly damaging	Het
Vps50	T	A	6: 3,536,967 (GRCm39)	C313S	probably damaging	Het
Xrcc5	T	G	1: 72,382,190 (GRCm39)	D455E	possibly damaging	Het
Zdhhc6	T	A	19: 55,290,987 (GRCm39)		probably benign	Het
Zfp964	G	A	8: 70,116,405 (GRCm39)	G335D	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
R6776:Ppp2r3c	UTSW	12	55,345,252 (GRCm39)	nonsense	probably null
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
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'- CAGCTGCTTACAGTCACTGC -3'
(R):5'- CGCCACAGGAGACTCATATTTGC -3'

Sequencing Primer
(F):5'- CTGCAAGAATATTCTGGAAGCTCTCC -3'
(R):5'- TGAGTCAGAGTCTCACCTTGCAG -3'

Posted On

2021-08-02