Mutagenetix > Incidental Mutation

Incidental Mutation 'R2322:Ppp4r3a'

244785

Institutional Source

Beutler Lab

Gene Symbol

Ppp4r3a

Ensembl Gene

ENSMUSG00000041846

Gene Name

protein phosphatase 4 regulatory subunit 3A

Synonyms

1110034C04Rik, Smek1

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.320) question?

Stock #

R2322 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101005668-101049961 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 101008878 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 667 (R667Q)

Ref Sequence

ENSEMBL: ENSMUSP00000129654 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048305] [ENSMUST00000163095] [ENSMUST00000223091]

AlphaFold

Q6P2K6

Predicted Effect

probably damaging
Transcript: ENSMUST00000048305
AA Change: R654Q

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000041667
Gene: ENSMUSG00000041846
AA Change: R654Q

Domain	Start	End	E-Value	Type
SCOP:d1k5db_	7	96	3e-24	SMART
Pfam:SMK-1	164	357	5.8e-85	PFAM
low complexity region	407	418	N/A	INTRINSIC
low complexity region	495	503	N/A	INTRINSIC
low complexity region	705	720	N/A	INTRINSIC
low complexity region	753	770	N/A	INTRINSIC
low complexity region	795	808	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000163095
AA Change: R667Q

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129654
Gene: ENSMUSG00000041846
AA Change: R667Q

Domain	Start	End	E-Value	Type
SCOP:d1k5db_	7	96	4e-24	SMART
Pfam:SMK-1	166	357	2.5e-84	PFAM
low complexity region	508	516	N/A	INTRINSIC
low complexity region	718	733	N/A	INTRINSIC
low complexity region	766	783	N/A	INTRINSIC
low complexity region	808	821	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220642

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222956

Predicted Effect

probably benign
Transcript: ENSMUST00000223091

Predicted Effect

unknown
Transcript: ENSMUST00000223459
AA Change: R43Q

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	C	T	6: 128,557,349 (GRCm39)	A115T	probably benign	Het
AY358078	A	G	14: 52,042,147 (GRCm39)	Y174C	unknown	Het
Bod1l	A	T	5: 41,984,463 (GRCm39)	V529E	probably benign	Het
Brinp3	A	G	1: 146,577,492 (GRCm39)	T176A	probably benign	Het
Ccn2	T	C	10: 24,472,732 (GRCm39)	M214T	probably damaging	Het
Cfap57	T	A	4: 118,467,922 (GRCm39)	I272L	probably benign	Het
Cnr1	A	G	4: 33,944,514 (GRCm39)	K301E	probably damaging	Het
Elavl1	A	T	8: 4,339,802 (GRCm39)	L260H	probably damaging	Het
Ercc6	A	G	14: 32,248,274 (GRCm39)	Y275C	probably damaging	Het
Fndc1	A	G	17: 8,007,847 (GRCm39)	S96P	probably damaging	Het
Hykk	G	A	9: 54,853,418 (GRCm39)	G247S	probably benign	Het
Ky	T	C	9: 102,414,990 (GRCm39)		probably null	Het
Mcu	A	C	10: 59,290,766 (GRCm39)		probably null	Het
Or2y17	T	G	11: 49,231,476 (GRCm39)	L39R	probably damaging	Het
Or5w11	T	C	2: 87,459,118 (GRCm39)	C104R	possibly damaging	Het
Ptprj	T	C	2: 90,301,473 (GRCm39)	T220A	probably benign	Het
St18	T	A	1: 6,914,348 (GRCm39)	C766*	probably null	Het
St8sia4	C	T	1: 95,581,463 (GRCm39)	R93H	probably damaging	Het
Tcim	G	C	8: 24,928,726 (GRCm39)	R63G	probably damaging	Het
Xylb	T	C	9: 119,217,813 (GRCm39)	S488P	possibly damaging	Het
Zhx3	T	C	2: 160,623,948 (GRCm39)	D73G	probably damaging	Het

Other mutations in Ppp4r3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00227:Ppp4r3a	APN	12	101,016,053 (GRCm39)	missense	probably damaging	1.00
IGL00532:Ppp4r3a	APN	12	101,010,912 (GRCm39)	missense	probably damaging	1.00
IGL01359:Ppp4r3a	APN	12	101,024,755 (GRCm39)	missense	probably damaging	0.99
IGL01873:Ppp4r3a	APN	12	101,008,094 (GRCm39)	missense	possibly damaging	0.86
IGL02676:Ppp4r3a	APN	12	101,008,770 (GRCm39)	missense	probably benign	0.00
IGL02756:Ppp4r3a	APN	12	101,024,582 (GRCm39)	critical splice donor site	probably null
IGL03196:Ppp4r3a	APN	12	101,015,913 (GRCm39)	splice site	probably benign
IGL03206:Ppp4r3a	APN	12	101,024,878 (GRCm39)	missense	probably damaging	1.00
R1101:Ppp4r3a	UTSW	12	101,017,830 (GRCm39)	missense	probably damaging	0.98
R1434:Ppp4r3a	UTSW	12	101,009,783 (GRCm39)	missense	probably damaging	0.99
R1526:Ppp4r3a	UTSW	12	101,007,000 (GRCm39)	missense	probably damaging	0.99
R1554:Ppp4r3a	UTSW	12	101,022,081 (GRCm39)	missense	probably damaging	1.00
R1650:Ppp4r3a	UTSW	12	101,010,878 (GRCm39)	missense	probably damaging	0.99
R1766:Ppp4r3a	UTSW	12	101,024,741 (GRCm39)	missense	probably damaging	0.99
R2152:Ppp4r3a	UTSW	12	101,008,826 (GRCm39)	missense	probably damaging	0.99
R2421:Ppp4r3a	UTSW	12	101,008,912 (GRCm39)	splice site	probably benign
R2422:Ppp4r3a	UTSW	12	101,008,912 (GRCm39)	splice site	probably benign
R2859:Ppp4r3a	UTSW	12	101,008,906 (GRCm39)	critical splice acceptor site	probably null
R2884:Ppp4r3a	UTSW	12	101,034,936 (GRCm39)	missense	probably damaging	0.99
R4157:Ppp4r3a	UTSW	12	101,021,878 (GRCm39)	missense	probably damaging	0.97
R4651:Ppp4r3a	UTSW	12	101,049,170 (GRCm39)	utr 5 prime	probably benign
R4652:Ppp4r3a	UTSW	12	101,049,170 (GRCm39)	utr 5 prime	probably benign
R4706:Ppp4r3a	UTSW	12	101,008,175 (GRCm39)	missense	probably damaging	1.00
R4773:Ppp4r3a	UTSW	12	101,049,026 (GRCm39)	missense	possibly damaging	0.93
R4775:Ppp4r3a	UTSW	12	101,019,825 (GRCm39)	missense	probably damaging	0.99
R5467:Ppp4r3a	UTSW	12	101,009,729 (GRCm39)	missense	probably damaging	0.99
R5634:Ppp4r3a	UTSW	12	101,009,780 (GRCm39)	missense	probably damaging	1.00
R5704:Ppp4r3a	UTSW	12	101,049,619 (GRCm39)	utr 5 prime	probably benign
R5707:Ppp4r3a	UTSW	12	101,024,770 (GRCm39)	missense	probably damaging	1.00
R5935:Ppp4r3a	UTSW	12	101,017,872 (GRCm39)	missense	probably damaging	1.00
R5969:Ppp4r3a	UTSW	12	101,009,838 (GRCm39)	missense	probably benign
R6030:Ppp4r3a	UTSW	12	101,024,659 (GRCm39)	missense	probably damaging	0.97
R6030:Ppp4r3a	UTSW	12	101,024,659 (GRCm39)	missense	probably damaging	0.97
R6630:Ppp4r3a	UTSW	12	101,016,035 (GRCm39)	missense	probably damaging	1.00
R7265:Ppp4r3a	UTSW	12	101,019,770 (GRCm39)	missense	possibly damaging	0.77
R7352:Ppp4r3a	UTSW	12	101,008,091 (GRCm39)	missense	probably damaging	1.00
R7402:Ppp4r3a	UTSW	12	101,025,053 (GRCm39)	missense	possibly damaging	0.94
R7761:Ppp4r3a	UTSW	12	101,022,080 (GRCm39)	missense	probably damaging	0.98
R7808:Ppp4r3a	UTSW	12	101,019,755 (GRCm39)	missense	possibly damaging	0.94
R7811:Ppp4r3a	UTSW	12	101,019,821 (GRCm39)	missense	probably damaging	0.98
R8062:Ppp4r3a	UTSW	12	101,008,230 (GRCm39)	missense	probably damaging	0.98
R8222:Ppp4r3a	UTSW	12	101,008,164 (GRCm39)	missense	probably benign	0.09
R8409:Ppp4r3a	UTSW	12	101,008,752 (GRCm39)	missense	probably benign	0.02
R8435:Ppp4r3a	UTSW	12	101,049,048 (GRCm39)	missense	probably benign	0.19
R8471:Ppp4r3a	UTSW	12	101,021,901 (GRCm39)	missense	probably benign	0.01
R9010:Ppp4r3a	UTSW	12	101,024,591 (GRCm39)	missense	possibly damaging	0.58
R9137:Ppp4r3a	UTSW	12	101,021,794 (GRCm39)	missense	possibly damaging	0.95
R9335:Ppp4r3a	UTSW	12	101,007,013 (GRCm39)	missense	probably damaging	1.00
R9336:Ppp4r3a	UTSW	12	101,015,919 (GRCm39)	missense	probably benign
R9666:Ppp4r3a	UTSW	12	101,049,129 (GRCm39)	start codon destroyed	probably null	0.39
R9752:Ppp4r3a	UTSW	12	101,008,763 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GAGAGCCTCACTTTCCCTTG -3'
(R):5'- AGCCTCTGTCTCTGTAGTATGG -3'

Sequencing Primer
(F):5'- TGCTCTTTGTTTCAACATACATTTC -3'
(R):5'- GTCTCTGTAGTATGGCTTAAAAGTC -3'

Posted On

2014-10-30