Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01367:Ppp4r2'

75964

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppp4r2

Ensembl Gene

ENSMUSG00000052144

Gene Name

protein phosphatase 4, regulatory subunit 2

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01367

Quality Score

Status

Chromosome

Chromosomal Location

100810596-100846891 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 100841706 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 92 (Y92*)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063854]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000063854
AA Change: Y162*

SMART Domains

Protein: ENSMUSP00000066314
Gene: ENSMUSG00000052144
AA Change: Y162*

Domain	Start	End	E-Value	Type
Pfam:PPP4R2	6	313	9.1e-80	PFAM
low complexity region	364	376	N/A	INTRINSIC
low complexity region	393	409	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203067

Predicted Effect

probably null
Transcript: ENSMUST00000203580
AA Change: Y92*

Predicted Effect

probably benign
Transcript: ENSMUST00000203940

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204001

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a regulatory subunit of the serine/threonine-protein phosphatase 4 complex. In addition to being required for efficient DNA double strand break repair, this complex plays a role in organization of microtubules at centrosomes and processing of spliceosomal snRNPs. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	A	G	11: 30,404,843 (GRCm39)	V20A	possibly damaging	Het
Alk	T	C	17: 72,207,781 (GRCm39)	I985V	probably damaging	Het
Anapc2	A	C	2: 25,164,794 (GRCm39)	R59S	possibly damaging	Het
Ankhd1	T	A	18: 36,711,696 (GRCm39)	D165E	probably benign	Het
Asb8	A	T	15: 98,034,054 (GRCm39)	V167D	probably damaging	Het
Atp5pf	A	G	16: 84,625,360 (GRCm39)	M81T	probably benign	Het
Bcl7b	A	G	5: 135,208,950 (GRCm39)	T138A	probably damaging	Het
Cdh23	A	G	10: 60,146,566 (GRCm39)	L2869P	probably damaging	Het
Chl1	T	C	6: 103,706,186 (GRCm39)	S1174P	probably benign	Het
Clec2g	T	C	6: 128,925,699 (GRCm39)	I36T	unknown	Het
Denr	A	G	5: 124,046,182 (GRCm39)	D4G	probably benign	Het
Dnajc10	T	C	2: 80,155,096 (GRCm39)		probably benign	Het
Egf	C	T	3: 129,496,104 (GRCm39)		probably null	Het
Galnt10	A	C	11: 57,616,409 (GRCm39)	Y108S	probably damaging	Het
Gls	C	T	1: 52,207,558 (GRCm39)	G602D	probably damaging	Het
Grb10	G	T	11: 11,895,599 (GRCm39)	Q242K	probably damaging	Het
Hspg2	A	T	4: 137,265,800 (GRCm39)	Y1837F	probably damaging	Het
Ikzf1	G	T	11: 11,698,358 (GRCm39)	A70S	probably benign	Het
Il17ra	T	C	6: 120,458,426 (GRCm39)	Y526H	probably damaging	Het
Il34	A	T	8: 111,469,375 (GRCm39)	I186N	possibly damaging	Het
Iqca1	G	A	1: 89,998,350 (GRCm39)		probably benign	Het
Kntc1	A	G	5: 123,896,546 (GRCm39)	Y136C	probably damaging	Het
Man2b2	A	T	5: 36,971,681 (GRCm39)	Y257*	probably null	Het
Map3k19	A	G	1: 127,752,088 (GRCm39)	F421S	possibly damaging	Het
Melk	A	G	4: 44,332,907 (GRCm39)	T288A	possibly damaging	Het
Mpp2	T	C	11: 101,954,135 (GRCm39)	E187G	probably damaging	Het
Mtf2	A	G	5: 108,252,323 (GRCm39)	T394A	probably benign	Het
Neil2	A	G	14: 63,429,177 (GRCm39)	S39P	probably damaging	Het
Or4e5	T	A	14: 52,727,624 (GRCm39)	I266F	probably benign	Het
Pcdh7	A	G	5: 58,286,566 (GRCm39)	E1214G	possibly damaging	Het
Pcdhb17	G	T	18: 37,620,548 (GRCm39)	Q779H	probably benign	Het
Pik3c2b	A	G	1: 133,033,726 (GRCm39)	I1577V	probably benign	Het
Pkp3	C	T	7: 140,663,989 (GRCm39)	P389S	probably damaging	Het
Rnf13	T	C	3: 57,714,508 (GRCm39)	I189T	probably benign	Het
Serpinf2	T	C	11: 75,328,871 (GRCm39)	D53G	probably benign	Het
Slc47a2	T	A	11: 61,220,607 (GRCm39)	T184S	probably benign	Het
Sned1	T	C	1: 93,210,936 (GRCm39)	I1008T	probably benign	Het
Sorcs3	A	T	19: 48,784,814 (GRCm39)	E1079V	probably damaging	Het
Trappc8	G	A	18: 20,999,176 (GRCm39)	S318L	probably benign	Het
Trappc9	A	G	15: 72,462,002 (GRCm39)	S909P	probably benign	Het
Ttn	G	A	2: 76,560,483 (GRCm39)	T29306I	probably damaging	Het
Twnk	G	A	19: 45,000,090 (GRCm39)	R602Q	possibly damaging	Het
Vmn2r15	A	T	5: 109,441,075 (GRCm39)	I261K	probably damaging	Het
Vmn2r77	G	A	7: 86,461,124 (GRCm39)	A817T	probably damaging	Het

Other mutations in Ppp4r2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01674:Ppp4r2	APN	6	100,841,644 (GRCm39)	missense	possibly damaging	0.95
IGL03270:Ppp4r2	APN	6	100,840,086 (GRCm39)	missense	probably damaging	1.00
R0462:Ppp4r2	UTSW	6	100,843,518 (GRCm39)	missense	possibly damaging	0.88
R1279:Ppp4r2	UTSW	6	100,842,879 (GRCm39)	nonsense	probably null
R1464:Ppp4r2	UTSW	6	100,843,527 (GRCm39)	missense	probably damaging	1.00
R1464:Ppp4r2	UTSW	6	100,843,527 (GRCm39)	missense	probably damaging	1.00
R2163:Ppp4r2	UTSW	6	100,842,047 (GRCm39)	missense	probably damaging	1.00
R2927:Ppp4r2	UTSW	6	100,838,426 (GRCm39)	missense	probably damaging	1.00
R5229:Ppp4r2	UTSW	6	100,842,176 (GRCm39)	missense	probably benign	0.25
R6426:Ppp4r2	UTSW	6	100,829,558 (GRCm39)	missense	probably damaging	1.00
R7078:Ppp4r2	UTSW	6	100,843,274 (GRCm39)	missense	probably benign	0.01
R7110:Ppp4r2	UTSW	6	100,842,823 (GRCm39)	missense	probably damaging	0.97
R8241:Ppp4r2	UTSW	6	100,842,044 (GRCm39)	missense	probably damaging	1.00
R8311:Ppp4r2	UTSW	6	100,843,343 (GRCm39)	missense	probably benign	0.01
R9130:Ppp4r2	UTSW	6	100,842,113 (GRCm39)	missense	probably damaging	1.00
R9589:Ppp4r2	UTSW	6	100,838,409 (GRCm39)	missense	probably damaging	0.98
X0064:Ppp4r2	UTSW	6	100,843,374 (GRCm39)	missense	probably benign	0.01

Posted On

2013-10-07