Mutagenetix > Incidental Mutation

Incidental Mutation 'R7397:Ppp4r1'

573932

Institutional Source

Beutler Lab

Gene Symbol

Ppp4r1

Ensembl Gene

ENSMUSG00000061950

Gene Name

protein phosphatase 4, regulatory subunit 1

Synonyms

3110001J10Rik, Pp4r1

MMRRC Submission

045479-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7397 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66089568-66148921 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 66144786 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 801 (I801S)

Ref Sequence

ENSEMBL: ENSMUSP00000072848 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073104] [ENSMUST00000160664] [ENSMUST00000162109] [ENSMUST00000162703]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000073104
AA Change: I801S

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000072848
Gene: ENSMUSG00000061950
AA Change: I801S

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 benign
Transcript: ENSMUST00000159646

SMART Domains

Protein: ENSMUSP00000123796
Gene: ENSMUSG00000061950

Domain	Start	End	E-Value	Type
low complexity region	92	101	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160664
AA Change: I784S

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000124690
Gene: ENSMUSG00000061950
AA Change: I784S

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

probably benign
Transcript: ENSMUST00000162109

SMART Domains

Protein: ENSMUSP00000125220
Gene: ENSMUSG00000061950

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

probably benign
Transcript: ENSMUST00000162703

Meta Mutation Damage Score

0.2573

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (77/77)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430550D23Rik	T	C	2: 155,845,848 (GRCm39)	H3R	unknown	Het
Adam18	T	A	8: 25,136,321 (GRCm39)	E400V	possibly damaging	Het
Ak5	A	T	3: 152,183,989 (GRCm39)	F473I	probably damaging	Het
Arhgef10l	G	A	4: 140,290,115 (GRCm39)	P486S	probably damaging	Het
Asphd1	T	A	7: 126,548,001 (GRCm39)	R101W	possibly damaging	Het
Bhlha15	G	A	5: 144,128,223 (GRCm39)	E112K	probably damaging	Het
C4b	A	T	17: 34,961,364 (GRCm39)	D198E	possibly damaging	Het
Carmil1	G	T	13: 24,228,294 (GRCm39)	P961T	probably damaging	Het
Catsperb	T	C	12: 101,554,282 (GRCm39)	S659P	possibly damaging	Het
Cdh3	C	T	8: 107,263,241 (GRCm39)	R97*	probably null	Het
Cep192	T	C	18: 67,989,268 (GRCm39)	I1805T	probably damaging	Het
Cep250	T	G	2: 155,823,331 (GRCm39)	L995R	probably damaging	Het
Cfap276	T	A	3: 108,450,864 (GRCm39)	I102N	probably benign	Het
Cfap53	T	C	18: 74,416,294 (GRCm39)	V9A	possibly damaging	Het
Chd5	A	G	4: 152,452,469 (GRCm39)	K809E	possibly damaging	Het
Csmd3	T	C	15: 47,559,130 (GRCm39)	T1467A		Het
Ctla2a	T	A	13: 61,083,463 (GRCm39)	R60S	probably damaging	Het
Cts6	A	T	13: 61,350,014 (GRCm39)	D22E	possibly damaging	Het
Ctsll3	T	A	13: 60,948,532 (GRCm39)	E109V	probably benign	Het
Dgka	G	A	10: 128,556,594 (GRCm39)	P701S	possibly damaging	Het
Dnhd1	A	T	7: 105,354,504 (GRCm39)	I3089F	possibly damaging	Het
Dock2	T	A	11: 34,609,816 (GRCm39)	D208V	probably benign	Het
Fnbp1l	G	T	3: 122,338,286 (GRCm39)	Q520K	probably benign	Het
Foxc1	A	G	13: 31,991,618 (GRCm39)	D143G	probably damaging	Het
Fsip2	G	A	2: 82,815,601 (GRCm39)	R3778Q	possibly damaging	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Gm4871	A	T	5: 144,969,508 (GRCm39)	C4S	probably damaging	Het
Gpt	C	A	15: 76,582,717 (GRCm39)	T294K	probably benign	Het
Hsd17b4	G	T	18: 50,279,491 (GRCm39)	G157C	probably damaging	Het
Iars1	G	A	13: 49,882,153 (GRCm39)	E1066K	probably benign	Het
Ifih1	G	A	2: 62,453,832 (GRCm39)	T260I	possibly damaging	Het
Ighv5-8	TATATATATATATATATATATA	TATATATATATATATATATATATA	12: 113,618,565 (GRCm39)		probably null	Het
Ipcef1	T	A	10: 6,922,244 (GRCm39)	*338R	probably null	Het
Kif20a	A	G	18: 34,760,729 (GRCm39)	T166A	probably damaging	Het
Map3k1	G	A	13: 111,891,742 (GRCm39)	A1171V	probably damaging	Het
Map3k21	T	C	8: 126,661,855 (GRCm39)	F484S	probably damaging	Het
Mbnl1	A	T	3: 60,523,051 (GRCm39)	Q180L	probably benign	Het
Mmp2	T	C	8: 93,562,755 (GRCm39)	F331L	possibly damaging	Het
Ms4a7	G	T	19: 11,298,916 (GRCm39)	H257N	probably benign	Het
Mtbp	T	A	15: 55,432,547 (GRCm39)	S285T	probably benign	Het
Mtrex	A	T	13: 113,058,220 (GRCm39)	D70E	probably benign	Het
Myo1c	A	G	11: 75,562,068 (GRCm39)	N852S	probably benign	Het
Myom3	T	A	4: 135,510,429 (GRCm39)	F574Y	probably damaging	Het
Nbeal2	A	G	9: 110,457,100 (GRCm39)	I2322T	possibly damaging	Het
Nlrp10	A	G	7: 108,523,899 (GRCm39)	L527P	probably damaging	Het
Nudt16l2	A	T	9: 105,021,621 (GRCm39)	W142R	probably damaging	Het
Nxnl1	C	T	8: 72,019,105 (GRCm39)	G40D	probably damaging	Het
Or52n1	C	T	7: 104,382,815 (GRCm39)	C252Y	possibly damaging	Het
Or5af1	C	T	11: 58,722,115 (GRCm39)	T45M	probably benign	Het
Otof	A	T	5: 30,533,051 (GRCm39)	W1564R	probably damaging	Het
Pcdhga7	A	G	18: 37,850,327 (GRCm39)	Y778C	probably benign	Het
Pcnx2	C	T	8: 126,617,624 (GRCm39)		probably null	Het
Pdpr	T	A	8: 111,839,385 (GRCm39)	N169K	possibly damaging	Het
Pkd1l2	C	A	8: 117,762,641 (GRCm39)	V1379F	possibly damaging	Het
Ppp4r4	A	T	12: 103,579,065 (GRCm39)		probably null	Het
Prl2c5	A	G	13: 13,366,327 (GRCm39)	D202G	probably benign	Het
Rap1gap2	T	C	11: 74,305,237 (GRCm39)	T323A	probably benign	Het
Rapgef4	T	C	2: 72,036,010 (GRCm39)	M501T	probably benign	Het
Rbm6	A	G	9: 107,729,718 (GRCm39)	M310T	probably benign	Het
Rdh1	A	T	10: 127,596,047 (GRCm39)	I81F	probably benign	Het
Rock1	C	T	18: 10,097,599 (GRCm39)	A730T	possibly damaging	Het
Rsl1	C	T	13: 67,330,101 (GRCm39)	T183I	possibly damaging	Het
Scyl3	T	C	1: 163,778,487 (GRCm39)		probably null	Het
Snap29	T	C	16: 17,237,236 (GRCm39)	F116L	probably damaging	Het
Syt5	A	T	7: 4,545,395 (GRCm39)		probably null	Het
Tat	T	C	8: 110,724,200 (GRCm39)	L363P	probably damaging	Het
Ttn	A	G	2: 76,601,316 (GRCm39)	V18719A	possibly damaging	Het
Ube2e2	T	A	14: 18,630,339 (GRCm38)	D107V	probably damaging	Het
Vmn1r64	A	G	7: 5,887,013 (GRCm39)	S177P	possibly damaging	Het
Vmn1r91	A	T	7: 19,835,695 (GRCm39)	T205S	possibly damaging	Het
Vmn2r124	T	C	17: 18,282,947 (GRCm39)	W214R	probably damaging	Het
Vmn2r25	A	T	6: 123,800,498 (GRCm39)	F615I	probably damaging	Het
Vmn2r91	G	T	17: 18,356,060 (GRCm39)	V576L	probably benign	Het
Vsig10l	A	C	7: 43,117,431 (GRCm39)	T573P	probably damaging	Het
Wdr93	A	G	7: 79,416,172 (GRCm39)	Q276R	probably null	Het
Zc3h7b	T	C	15: 81,653,354 (GRCm39)	V86A	possibly damaging	Het
Zeb1	T	A	18: 5,761,394 (GRCm39)	Y231N	probably damaging	Het
Zfp407	T	C	18: 84,579,944 (GRCm39)	K390E	possibly damaging	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	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
R4603:Ppp4r1	UTSW	17	66,120,459 (GRCm39)	missense	probably damaging	1.00
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
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'- CCAGCACAAAAGTCAGCTTGG -3'
(R):5'- TGGACACCTGCCAAAATTCTC -3'

Sequencing Primer
(F):5'- AGTACACTGTAGCTGTCTTCAGAC -3'
(R):5'- GCCAAAATTCTCTACCAGCTCATTG -3'

Posted On

2019-09-13