Mutagenetix > Incidental Mutation

Incidental Mutation 'R4603:Ppp4r1'

345823

Institutional Source

Beutler Lab

Gene Symbol

Ppp4r1

Ensembl Gene

ENSMUSG00000061950

Gene Name

protein phosphatase 4, regulatory subunit 1

Synonyms

3110001J10Rik, Pp4r1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4603 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66089568-66148921 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 66120459 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 181 (C181G)

Ref Sequence

ENSEMBL: ENSMUSP00000124690 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073104] [ENSMUST00000160664] [ENSMUST00000161127] [ENSMUST00000162109] [ENSMUST00000162272]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000073104
AA Change: C198G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000072848
Gene: ENSMUSG00000061950
AA Change: C198G

Domain	Start	End	E-Value	Type
low complexity region	152	163	N/A	INTRINSIC
Pfam:HEAT	213	244	2e-5	PFAM
Pfam:HEAT	253	280	2.7e-6	PFAM
low complexity region	531	540	N/A	INTRINSIC
PDB:3FGA\|A	664	930	3e-6	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000160664
AA Change: C181G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000124690
Gene: ENSMUSG00000061950
AA Change: C181G

Domain	Start	End	E-Value	Type
low complexity region	135	146	N/A	INTRINSIC
Pfam:HEAT	236	263	2.2e-6	PFAM
low complexity region	514	523	N/A	INTRINSIC
PDB:3FGA\|A	647	913	3e-6	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161100

Predicted Effect

silent
Transcript: ENSMUST00000161127

SMART Domains

Protein: ENSMUSP00000123862
Gene: ENSMUSG00000061950

Domain	Start	End	E-Value	Type
SCOP:d1gw5a_	25	154	1e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162109
AA Change: C198G

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000125220
Gene: ENSMUSG00000061950
AA Change: C198G

Domain	Start	End	E-Value	Type
low complexity region	152	163	N/A	INTRINSIC
Pfam:HEAT	253	280	7.1e-7	PFAM
Pfam:HEAT	292	322	2.1e-5	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162272
AA Change: C155G

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000124227
Gene: ENSMUSG00000061950
AA Change: C155G

Domain	Start	End	E-Value	Type
SCOP:d1gw5a_	57	220	3e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162408

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162788

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of several alternate regulatory subunits of serine/threonine protein phosphatase 4 (PP4). The protein features multiple HEAT repeats. This protein forms a complex with PP4RC. This complex may have a distinct role from other PP4 complexes, including regulation of HDAC3 (Zhang et al., PMID: 15805470). There is also a transcribed pseudogene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810024B03Rik	A	G	2: 127,029,019 (GRCm39)	V60A	probably damaging	Het
AAdacl4fm3	A	G	4: 144,429,798 (GRCm39)	V397A	probably benign	Het
Afg3l1	A	G	8: 124,228,674 (GRCm39)	T747A	probably benign	Het
Aldh4a1	T	C	4: 139,370,740 (GRCm39)	S408P	probably damaging	Het
Ank2	T	C	3: 126,825,665 (GRCm39)	T445A	probably benign	Het
Antxrl	A	G	14: 33,797,792 (GRCm39)	E589G	possibly damaging	Het
Arhgef12	C	T	9: 42,921,489 (GRCm39)	G329R	probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
AY358078	T	A	14: 52,063,532 (GRCm39)	C393S	possibly damaging	Het
Bpnt2	T	C	4: 4,767,878 (GRCm39)	I299M	probably damaging	Het
Brca2	T	A	5: 150,459,630 (GRCm39)	C302S	possibly damaging	Het
Ccdc169	T	A	3: 55,058,226 (GRCm39)	M4K	probably benign	Het
Ccdc66	T	C	14: 27,222,377 (GRCm39)	N122S	probably damaging	Het
Cd226	T	C	18: 89,225,343 (GRCm39)	V80A	probably damaging	Het
Cdc73	T	C	1: 143,553,595 (GRCm39)		probably null	Het
Cfap96	A	T	8: 46,423,505 (GRCm39)	I69N	probably damaging	Het
Cse1l	T	C	2: 166,786,452 (GRCm39)	V604A	probably benign	Het
Cxcr1	G	C	1: 74,231,896 (GRCm39)	T42S	probably benign	Het
Dhx9	TCC	TC	1: 153,342,797 (GRCm39)		probably null	Het
Ercc3	G	A	18: 32,378,624 (GRCm39)	A202T	probably benign	Het
Erp27	A	G	6: 136,896,947 (GRCm39)	V85A	probably damaging	Het
Fam3d	T	A	14: 8,358,429 (GRCm38)	S57C	probably damaging	Het
Fgf8	T	G	19: 45,726,592 (GRCm39)	I137L	probably benign	Het
Fgfrl1	T	A	5: 108,851,401 (GRCm39)	V106D	probably damaging	Het
Gaa	T	C	11: 119,169,784 (GRCm39)	W613R	probably damaging	Het
Gabarap	A	G	11: 69,885,287 (GRCm39)	N66S	probably benign	Het
Gp1bb	A	T	16: 18,439,893 (GRCm39)	L67Q	probably damaging	Het
Gpn1	T	C	5: 31,654,696 (GRCm39)		probably null	Het
Gstt1	T	C	10: 75,629,969 (GRCm39)	Y48C	probably damaging	Het
Iqcg	C	T	16: 32,861,134 (GRCm39)	R194K	probably null	Het
Iqcg	C	G	16: 32,861,133 (GRCm39)		probably null	Het
Kcnj3	C	T	2: 55,336,991 (GRCm39)	R286*	probably null	Het
Klhl38	T	A	15: 58,186,616 (GRCm39)	I38F	possibly damaging	Het
Kmo	C	A	1: 175,479,208 (GRCm39)	P248Q	probably benign	Het
Mbtps1	A	T	8: 120,262,086 (GRCm39)	D354E	probably damaging	Het
Mcpt9	C	T	14: 56,266,049 (GRCm39)	V60M	probably damaging	Het
Mical3	C	A	6: 120,911,799 (GRCm39)	E1083*	probably null	Het
Mprip	T	C	11: 59,622,399 (GRCm39)	V162A	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Myocd	T	C	11: 65,078,571 (GRCm39)	D408G	possibly damaging	Het
Myt1l	A	G	12: 29,892,539 (GRCm39)	T59A	probably benign	Het
Ndufb7	A	G	8: 84,293,494 (GRCm39)	E16G	probably damaging	Het
Ndufs7	T	A	10: 80,092,501 (GRCm39)	Y203*	probably null	Het
Nploc4	C	T	11: 120,276,613 (GRCm39)	V478I	probably benign	Het
Nrap	A	G	19: 56,323,456 (GRCm39)		probably null	Het
Or5e1	A	T	7: 108,354,834 (GRCm39)	Y257F	probably damaging	Het
Or6c207	G	A	10: 129,104,274 (GRCm39)	A306V	probably benign	Het
Pald1	T	C	10: 61,184,395 (GRCm39)	T241A	probably benign	Het
Pdss2	T	C	10: 43,248,197 (GRCm39)	S234P	probably damaging	Het
Pias2	T	A	18: 77,217,803 (GRCm39)	V335E	probably damaging	Het
Ppip5k2	C	A	1: 97,682,861 (GRCm39)	K187N	probably damaging	Het
Ppp3cb	T	C	14: 20,570,714 (GRCm39)	N339S	possibly damaging	Het
Pramel27	T	A	4: 143,579,451 (GRCm39)	H345Q	probably benign	Het
Prkdc	G	A	16: 15,628,688 (GRCm39)	E3478K	probably damaging	Het
Prpf4b	T	C	13: 35,072,147 (GRCm39)		probably benign	Het
Psme3	T	A	11: 101,208,435 (GRCm39)		probably null	Het
Ptpre	C	A	7: 135,269,372 (GRCm39)	Y284*	probably null	Het
Scnn1a	A	G	6: 125,299,123 (GRCm39)	I94V	probably damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Shc2	T	C	10: 79,459,690 (GRCm39)	D418G	probably benign	Het
Sidt1	A	T	16: 44,075,389 (GRCm39)	D661E	probably damaging	Het
Slc35e2	T	C	4: 155,702,106 (GRCm39)	F290S	probably benign	Het
Sorcs1	A	G	19: 50,301,402 (GRCm39)		probably null	Het
Stox2	A	G	8: 47,645,970 (GRCm39)	S497P	probably damaging	Het
Tmem270	C	A	5: 134,930,482 (GRCm39)	E260*	probably null	Het
Tmtc2	T	C	10: 105,249,391 (GRCm39)	Y114C	probably benign	Het
Trim46	A	G	3: 89,150,958 (GRCm39)	F188S	probably benign	Het
Trim7	T	A	11: 48,728,355 (GRCm39)	M1K	probably null	Het
Txnip	A	G	3: 96,465,604 (GRCm39)	E18G	probably benign	Het
Usp34	A	G	11: 23,414,633 (GRCm39)	N2859D	probably damaging	Het
Vmn2r94	T	A	17: 18,477,647 (GRCm39)	I255F	probably benign	Het
Xkr5	T	A	8: 18,983,733 (GRCm39)	N603I	possibly damaging	Het
Zfp512	C	T	5: 31,637,570 (GRCm39)	A497V	probably benign	Het
Zfp518b	T	C	5: 38,830,970 (GRCm39)	N345S	probably damaging	Het

Other mutations in Ppp4r1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Ppp4r1	APN	17	66,123,014 (GRCm39)	missense	probably benign	0.06
IGL01415:Ppp4r1	APN	17	66,120,522 (GRCm39)	missense	probably damaging	1.00
IGL02166:Ppp4r1	APN	17	66,120,487 (GRCm39)	missense	probably benign	0.01
IGL02672:Ppp4r1	APN	17	66,147,942 (GRCm39)	missense	probably damaging	1.00
estancia	UTSW	17	66,110,963 (GRCm39)	critical splice donor site	probably null
Hacienda	UTSW	17	66,123,001 (GRCm39)	missense	probably benign
R0304:Ppp4r1	UTSW	17	66,123,001 (GRCm39)	missense	probably benign
R0976:Ppp4r1	UTSW	17	66,148,013 (GRCm39)	makesense	probably null
R1355:Ppp4r1	UTSW	17	66,147,982 (GRCm39)	missense	probably benign
R2356:Ppp4r1	UTSW	17	66,140,045 (GRCm39)	missense	probably damaging	0.99
R2405:Ppp4r1	UTSW	17	66,118,341 (GRCm39)	missense	possibly damaging	0.95
R3054:Ppp4r1	UTSW	17	66,143,074 (GRCm39)	missense	probably damaging	0.99
R4391:Ppp4r1	UTSW	17	66,131,749 (GRCm39)	missense	probably benign	0.05
R4763:Ppp4r1	UTSW	17	66,142,105 (GRCm39)	missense	possibly damaging	0.90
R5571:Ppp4r1	UTSW	17	66,110,856 (GRCm39)	nonsense	probably null
R5586:Ppp4r1	UTSW	17	66,131,563 (GRCm39)	missense	probably benign	0.00
R5661:Ppp4r1	UTSW	17	66,110,963 (GRCm39)	critical splice donor site	probably null
R5742:Ppp4r1	UTSW	17	66,144,741 (GRCm39)	missense	probably damaging	0.97
R5971:Ppp4r1	UTSW	17	66,121,343 (GRCm39)	missense	possibly damaging	0.89
R6079:Ppp4r1	UTSW	17	66,121,343 (GRCm39)	missense	possibly damaging	0.89
R6138:Ppp4r1	UTSW	17	66,121,343 (GRCm39)	missense	possibly damaging	0.89
R6303:Ppp4r1	UTSW	17	66,131,724 (GRCm39)	missense	probably benign	0.10
R6684:Ppp4r1	UTSW	17	66,131,337 (GRCm39)	missense	probably benign	0.00
R7058:Ppp4r1	UTSW	17	66,136,495 (GRCm39)	missense	probably benign	0.00
R7397:Ppp4r1	UTSW	17	66,144,786 (GRCm39)	missense	probably benign	0.28
R7448:Ppp4r1	UTSW	17	66,147,936 (GRCm39)	missense	probably damaging	1.00
R7465:Ppp4r1	UTSW	17	66,138,015 (GRCm39)	nonsense	probably null
R7528:Ppp4r1	UTSW	17	66,120,493 (GRCm39)	missense	probably damaging	1.00
R7571:Ppp4r1	UTSW	17	66,117,611 (GRCm39)	missense	possibly damaging	0.91
R7910:Ppp4r1	UTSW	17	66,136,394 (GRCm39)	missense	probably damaging	1.00
R7910:Ppp4r1	UTSW	17	66,118,298 (GRCm39)	missense	probably benign	0.00
R7972:Ppp4r1	UTSW	17	66,140,093 (GRCm39)	missense	possibly damaging	0.90
R8910:Ppp4r1	UTSW	17	66,144,768 (GRCm39)	missense	probably damaging	1.00
R8915:Ppp4r1	UTSW	17	66,136,376 (GRCm39)	missense	probably damaging	0.99
R8939:Ppp4r1	UTSW	17	66,110,926 (GRCm39)	missense	probably damaging	1.00
R9515:Ppp4r1	UTSW	17	66,142,073 (GRCm39)	missense	probably null	1.00
R9557:Ppp4r1	UTSW	17	66,110,258 (GRCm39)	missense	probably benign	0.04
R9674:Ppp4r1	UTSW	17	66,140,127 (GRCm39)	missense	probably damaging	1.00
U15987:Ppp4r1	UTSW	17	66,121,343 (GRCm39)	missense	possibly damaging	0.89
Z1176:Ppp4r1	UTSW	17	66,145,921 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCTTTCGAAGTTACTGGCAAAATG -3'
(R):5'- CCAAAATTGGCAGCGCAGAC -3'

Sequencing Primer
(F):5'- CGAAGTTACTGGCAAAATGATTAAG -3'
(R):5'- GCAGCGCAGACCTGTAACAG -3'

Posted On

2015-09-25