Mutagenetix > Incidental Mutation

Incidental Mutation 'R7571:Ppp4r1'

585881

Institutional Source

Beutler Lab

Gene Symbol

Ppp4r1

Ensembl Gene

ENSMUSG00000061950

Gene Name

protein phosphatase 4, regulatory subunit 1

Synonyms

3110001J10Rik, Pp4r1

MMRRC Submission

045711-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7571 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

66089568-66148921 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 66117611 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 125 (P125L)

Ref Sequence

ENSEMBL: ENSMUSP00000072848 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073104
AA Change: P125L

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000072848
Gene: ENSMUSG00000061950
AA Change: P125L

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

possibly damaging
Transcript: ENSMUST00000160664
AA Change: P108L

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124690
Gene: ENSMUSG00000061950
AA Change: P108L

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 damaging
Transcript: ENSMUST00000161127
AA Change: P82L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123862
Gene: ENSMUSG00000061950
AA Change: P82L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000162109
AA Change: P125L

PolyPhen 2 Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000125220
Gene: ENSMUSG00000061950
AA Change: P125L

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 damaging
Transcript: ENSMUST00000162272
AA Change: P82L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124227
Gene: ENSMUSG00000061950
AA Change: P82L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.4%

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	T	7: 120,119,211 (GRCm39)	N985I	probably benign	Het
Abi3bp	T	A	16: 56,451,345 (GRCm39)		probably null	Het
Acad12	A	T	5: 121,745,257 (GRCm39)	Y309*	probably null	Het
Acadsb	G	T	7: 131,045,283 (GRCm39)	R405L	probably damaging	Het
Acan	G	A	7: 78,736,015 (GRCm39)	V154M	probably damaging	Het
Adam22	G	A	5: 8,132,160 (GRCm39)	R894*	probably null	Het
Ahnak	A	T	19: 8,978,150 (GRCm39)	K90*	probably null	Het
Ak4	T	C	4: 101,317,739 (GRCm39)	I103T	probably benign	Het
Ap4e1	C	T	2: 126,861,256 (GRCm39)	L132F	probably damaging	Het
Apol7b	C	T	15: 77,307,677 (GRCm39)	V273I	probably benign	Het
Arhgef37	T	A	18: 61,637,403 (GRCm39)	I420F	probably damaging	Het
Atg13	C	T	2: 91,510,687 (GRCm39)		probably null	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Cabin1	A	T	10: 75,482,500 (GRCm39)	S2148T	probably damaging	Het
Cacna1i	T	C	15: 80,259,537 (GRCm39)	V1269A	probably damaging	Het
Cdipt	T	C	7: 126,578,794 (GRCm39)	I195T	probably benign	Het
Ces2b	A	T	8: 105,561,641 (GRCm39)	H245L	probably damaging	Het
Cimip2c	A	T	5: 30,639,502 (GRCm39)	E143V	possibly damaging	Het
Clstn1	T	G	4: 149,730,744 (GRCm39)	M825R	probably benign	Het
Cntn3	G	A	6: 102,255,364 (GRCm39)	T178I	probably damaging	Het
Col7a1	A	G	9: 108,811,775 (GRCm39)	M2789V	probably null	Het
Col9a2	A	T	4: 120,896,981 (GRCm39)	I24F	unknown	Het
Cpne2	T	C	8: 95,278,408 (GRCm39)	M134T	probably benign	Het
Cpt1b	A	G	15: 89,305,546 (GRCm39)		probably null	Het
Crocc	T	C	4: 140,773,360 (GRCm39)		probably null	Het
Cts8	T	C	13: 61,395,981 (GRCm39)	Y330C	probably damaging	Het
Cwc22	T	C	2: 77,747,411 (GRCm39)	D434G	probably benign	Het
Cyp3a13	T	C	5: 137,897,125 (GRCm39)	I396M	possibly damaging	Het
Ddr2	A	T	1: 169,829,420 (GRCm39)	I278N	probably benign	Het
Dnaaf5	A	G	5: 139,155,963 (GRCm39)	E548G	possibly damaging	Het
Dync2h1	A	G	9: 7,002,623 (GRCm39)	L3808P	probably damaging	Het
Faf2	T	A	13: 54,798,027 (GRCm39)	W209R	probably damaging	Het
Fbln2	A	T	6: 91,245,557 (GRCm39)	E992D	probably damaging	Het
Fdxacb1	T	A	9: 50,683,093 (GRCm39)	V352D	probably damaging	Het
Flg2	G	T	3: 93,127,303 (GRCm39)	G2072*	probably null	Het
Flii	A	T	11: 60,611,962 (GRCm39)	L347Q	probably damaging	Het
Fndc3a	A	T	14: 72,827,336 (GRCm39)	H116Q	probably damaging	Het
Fnta	A	T	8: 26,505,493 (GRCm39)	M39K	probably benign	Het
Gabra4	A	G	5: 71,729,335 (GRCm39)	S482P	probably benign	Het
Gapdhs	G	A	7: 30,437,383 (GRCm39)	P61S	unknown	Het
Gm10153	A	T	7: 141,743,401 (GRCm39)	C242*	probably null	Het
Gp1ba	A	G	11: 70,530,920 (GRCm39)	I229V	unknown	Het
Grap2	T	A	15: 80,527,905 (GRCm39)	L117Q	probably damaging	Het
Grik5	A	G	7: 24,713,310 (GRCm39)	I766T	possibly damaging	Het
Hrh3	A	T	2: 179,743,079 (GRCm39)	I183N	probably damaging	Het
Htr5a	C	A	5: 28,047,893 (GRCm39)	Y149*	probably null	Het
Ibtk	T	C	9: 85,604,353 (GRCm39)	I527V	probably benign	Het
Il33	T	A	19: 29,934,341 (GRCm39)	S184R	probably damaging	Het
Kansl3	T	A	1: 36,404,668 (GRCm39)	Q94L	possibly damaging	Het
Katnip	C	T	7: 125,307,193 (GRCm39)		probably benign	Het
Kcnh6	A	G	11: 105,908,242 (GRCm39)	D286G	probably benign	Het
Kmt2e	T	A	5: 23,683,585 (GRCm39)	M281K	probably damaging	Het
Lrp2	T	A	2: 69,346,747 (GRCm39)	H833L	probably damaging	Het
Meis1	A	T	11: 18,891,702 (GRCm39)	V282E	probably damaging	Het
Mfsd8	T	G	3: 40,785,097 (GRCm39)	D240A	probably damaging	Het
Muc5b	A	G	7: 141,400,986 (GRCm39)	T534A	unknown	Het
Myo18b	G	A	5: 112,978,194 (GRCm39)	L1243F	probably damaging	Het
Nefl	A	G	14: 68,322,123 (GRCm39)	I238V	probably benign	Het
Nexn	T	A	3: 151,959,284 (GRCm39)	I62F	possibly damaging	Het
Niban1	T	C	1: 151,594,048 (GRCm39)	V911A	probably benign	Het
Notch4	T	C	17: 34,802,548 (GRCm39)	L1323P	probably damaging	Het
Or51h1	T	C	7: 102,308,258 (GRCm39)	S77P	probably damaging	Het
Or5p68	A	T	7: 107,945,689 (GRCm39)	F166L	probably benign	Het
Or8b1	T	C	9: 38,399,952 (GRCm39)	V209A	probably benign	Het
Patj	C	A	4: 98,457,217 (GRCm39)	H1244N	probably damaging	Het
Peg10	T	A	6: 4,756,082 (GRCm39)	D219E	unknown	Het
Pi4kb	G	T	3: 94,906,425 (GRCm39)		probably null	Het
Piezo1	A	G	8: 123,225,157 (GRCm39)	F614S		Het
Pisd	T	A	5: 32,894,681 (GRCm39)	N372Y	probably damaging	Het
Piwil4	T	C	9: 14,645,893 (GRCm39)	D178G	probably benign	Het
Plekho1	G	T	3: 95,896,566 (GRCm39)	P301Q	probably damaging	Het
Pop1	T	A	15: 34,529,093 (GRCm39)	W738R	probably null	Het
Pramel48	A	T	5: 95,630,819 (GRCm39)	N232I	probably damaging	Het
Prdm9	T	A	17: 15,783,526 (GRCm39)	N13I	probably damaging	Het
Psd4	T	G	2: 24,297,023 (GRCm39)	V932G	probably damaging	Het
Ptger3	T	C	3: 157,347,412 (GRCm39)	S355P	probably benign	Het
Ptprb	T	C	10: 116,175,335 (GRCm39)	V823A	probably damaging	Het
Ptprj	C	T	2: 90,285,530 (GRCm39)	V841I	probably benign	Het
Ranbp3	T	C	17: 57,014,923 (GRCm39)	S281P	probably benign	Het
Rasal3	T	A	17: 32,614,835 (GRCm39)	M541L	possibly damaging	Het
Rassf1	A	G	9: 107,428,982 (GRCm39)	T63A	possibly damaging	Het
Rcor3	C	A	1: 191,822,173 (GRCm39)	G8V	probably damaging	Het
Rgs4	G	A	1: 169,571,927 (GRCm39)	T124I	probably damaging	Het
Rspo2	T	A	15: 43,033,372 (GRCm39)		probably benign	Het
Scgn	T	C	13: 24,137,897 (GRCm39)	D258G	probably damaging	Het
Shkbp1	A	G	7: 27,046,556 (GRCm39)	S403P	possibly damaging	Het
Slc25a13	A	G	6: 6,052,785 (GRCm39)	L525P	probably damaging	Het
Snd1	G	T	6: 28,526,202 (GRCm39)	K193N	possibly damaging	Het
Sntg2	C	T	12: 30,225,201 (GRCm39)	A516T	probably damaging	Het
Stard13	A	G	5: 150,982,967 (GRCm39)	I699T	probably damaging	Het
Svil	T	A	18: 5,114,636 (GRCm39)	V1984D	probably damaging	Het
Swt1	A	G	1: 151,270,470 (GRCm39)	S582P	probably benign	Het
Sypl2	A	G	3: 108,121,854 (GRCm39)	*265Q	probably null	Het
Taar8a	T	A	10: 23,953,306 (GRCm39)	Y303*	probably null	Het
Tasor2	T	C	13: 3,625,292 (GRCm39)	T1553A	probably benign	Het
Tlr2	T	A	3: 83,743,849 (GRCm39)	I745F	probably damaging	Het
Tnrc6b	A	G	15: 80,813,594 (GRCm39)	T1784A	probably benign	Het
Tpo	C	A	12: 30,169,431 (GRCm39)	M101I	probably benign	Het
Trpm2	G	T	10: 77,773,784 (GRCm39)	R544S	probably benign	Het
Ttc14	A	G	3: 33,863,400 (GRCm39)	R603G	unknown	Het
Tubgcp6	A	C	15: 88,984,925 (GRCm39)	V1694G	probably damaging	Het
Uba6	C	A	5: 86,294,970 (GRCm39)	K356N	probably benign	Het
Usp16	T	C	16: 87,261,723 (GRCm39)	V113A	possibly damaging	Het
Vcam1	G	A	3: 115,908,032 (GRCm39)	Q677*	probably null	Het
Vmn1r238	T	A	18: 3,122,721 (GRCm39)	E231V	probably damaging	Het
Vmn1r70	T	C	7: 10,367,871 (GRCm39)	F120L	probably benign	Het
Vmn2r116	T	A	17: 23,603,830 (GRCm39)		probably null	Het
Vmn2r5	A	T	3: 64,411,825 (GRCm39)	C248S	probably damaging	Het
Vmn2r87	A	T	10: 130,314,940 (GRCm39)	D215E	probably damaging	Het
Xkr4	T	G	1: 3,740,911 (GRCm39)	I221L	probably benign	Het
Zfp366	T	C	13: 99,382,895 (GRCm39)	I686T	probably benign	Het
Zfp398	T	A	6: 47,843,666 (GRCm39)	C573S	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
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
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
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'- GTGAGCTCTTACCATGCTGG -3'
(R):5'- AATTTGTTAGACTCTCCACACACC -3'

Sequencing Primer
(F):5'- CCATGCTGGTGTCTAAGTAGCC -3'
(R):5'- GTTAGACTCTCCACACACCTTAATC -3'

Posted On

2019-10-17