Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03179:Ppp4r3c2'

412131

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppp4r3c2

Ensembl Gene

ENSMUSG00000079513

Gene Name

protein phosphatase 4 regulatory subunit 3C2

Synonyms

4932429P05Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

IGL03179

Quality Score

Status

Chromosome

Chromosomal Location

88795874-88799097 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 88796434 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 89 (G89S)

Ref Sequence

ENSEMBL: ENSMUSP00000109591 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113958]

AlphaFold

A2ADI4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113958
AA Change: G89S

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109591
Gene: ENSMUSG00000079513
AA Change: G89S

Domain	Start	End	E-Value	Type
SCOP:d1k5db_	6	95	4e-21	SMART
Pfam:SMK-1	166	357	2.1e-65	PFAM
low complexity region	400	414	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	T	A	14: 78,745,180 (GRCm39)	H1736L	probably benign	Het
App	A	G	16: 84,879,735 (GRCm39)	C133R	probably damaging	Het
Atxn7l2	G	T	3: 108,110,963 (GRCm39)	C524*	probably null	Het
Cckbr	T	C	7: 105,084,130 (GRCm39)	V288A	probably benign	Het
Ccr1l1	T	C	9: 123,777,787 (GRCm39)	Y220C	probably damaging	Het
Cdc42se2	A	T	11: 54,614,417 (GRCm39)	F47I	possibly damaging	Het
Cep290	T	A	10: 100,403,950 (GRCm39)	I2317N	possibly damaging	Het
Chrnd	T	C	1: 87,123,502 (GRCm39)	S347P	probably damaging	Het
Clcn5	T	A	X: 7,029,565 (GRCm39)		probably null	Het
D6Wsu163e	A	G	6: 126,927,074 (GRCm39)	D187G	probably damaging	Het
Dnajc13	T	A	9: 104,044,634 (GRCm39)	I1852F	probably benign	Het
Ecpas	C	T	4: 58,832,777 (GRCm39)	G861D	probably damaging	Het
Fcnb	A	G	2: 27,966,646 (GRCm39)	S296P	possibly damaging	Het
Fut2	C	T	7: 45,300,073 (GRCm39)	R233K	probably benign	Het
Gm21985	G	A	2: 112,188,900 (GRCm39)	V1078I	possibly damaging	Het
Gpc3	A	T	X: 51,486,090 (GRCm39)		probably benign	Het
Krt10	A	G	11: 99,280,044 (GRCm39)		probably benign	Het
Lrrk2	A	G	15: 91,584,781 (GRCm39)	E370G	probably damaging	Het
Myo5c	A	T	9: 75,163,148 (GRCm39)	I326F	possibly damaging	Het
Neb	A	T	2: 52,066,653 (GRCm39)	L5906Q	probably damaging	Het
Nrdc	A	T	4: 108,903,888 (GRCm39)		probably benign	Het
Nrip2	A	G	6: 128,381,938 (GRCm39)	N17S	possibly damaging	Het
Or51f2	T	C	7: 102,527,279 (GRCm39)		probably benign	Het
Or6s1	T	C	14: 51,308,467 (GRCm39)	I128V	probably benign	Het
P2rx7	A	G	5: 122,811,763 (GRCm39)	Y358C	possibly damaging	Het
Pex10	A	C	4: 155,152,354 (GRCm39)	I61L	probably benign	Het
Phax	T	C	18: 56,713,364 (GRCm39)	F248L	probably damaging	Het
Phtf2	A	T	5: 20,987,397 (GRCm39)	D366E	probably damaging	Het
Pnpo	A	G	11: 96,830,085 (GRCm39)	Y205H	possibly damaging	Het
Pparg	T	A	6: 115,416,833 (GRCm39)	W9R	probably damaging	Het
Prex1	C	T	2: 166,427,114 (GRCm39)	S867N	probably benign	Het
Pyroxd2	T	A	19: 42,736,001 (GRCm39)	N59I	possibly damaging	Het
Rnf135	T	A	11: 80,084,837 (GRCm39)	S203R	possibly damaging	Het
Sall1	T	A	8: 89,758,289 (GRCm39)	N605I	probably benign	Het
Scara3	C	T	14: 66,168,603 (GRCm39)	R338H	probably damaging	Het
Slc25a14	T	C	X: 47,726,317 (GRCm39)	S152P	probably benign	Het
Strip1	A	T	3: 107,527,571 (GRCm39)	F436I	probably damaging	Het
Tgfa	T	C	6: 86,248,403 (GRCm39)	L135P	probably benign	Het
Tgif1	T	C	17: 71,151,942 (GRCm39)	Q170R	possibly damaging	Het
Tmc2	G	A	2: 130,071,107 (GRCm39)	E279K	probably damaging	Het
Tnks	G	T	8: 35,315,824 (GRCm39)	N987K	probably benign	Het
Traf3ip3	T	C	1: 192,876,676 (GRCm39)	E209G	probably damaging	Het
Vmn2r73	T	A	7: 85,519,468 (GRCm39)	I497L	probably benign	Het
Wrn	C	A	8: 33,800,734 (GRCm39)		probably null	Het
Zcchc24	T	C	14: 25,720,086 (GRCm39)	I193V	possibly damaging	Het

Other mutations in Ppp4r3c2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02640:Ppp4r3c2	APN	X	88,796,210 (GRCm39)	missense	probably benign	0.14
IGL02863:Ppp4r3c2	APN	X	88,796,429 (GRCm39)	missense	possibly damaging	0.77
R0481:Ppp4r3c2	UTSW	X	88,796,299 (GRCm39)	missense	probably damaging	1.00
R0635:Ppp4r3c2	UTSW	X	88,796,128 (GRCm39)	utr 5 prime	probably benign
R0737:Ppp4r3c2	UTSW	X	88,797,926 (GRCm39)	missense	probably benign	0.27
R1416:Ppp4r3c2	UTSW	X	88,797,283 (GRCm39)	missense	probably benign	0.05
R3051:Ppp4r3c2	UTSW	X	88,797,709 (GRCm39)	missense	probably damaging	0.96
R8341:Ppp4r3c2	UTSW	X	88,798,322 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02