Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00532:Ppp4r3a'

4376

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL00532

Quality Score

Status

Chromosome

Chromosomal Location

101005668-101049961 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101010912 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 556 (L556P)

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: L543P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000041667
Gene: ENSMUSG00000041846
AA Change: L543P

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: L556P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000129654
Gene: ENSMUSG00000041846
AA Change: L556P

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

probably benign
Transcript: ENSMUST00000223459

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 6 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap11a	A	G	2: 113,664,411 (GRCm39)	V624A	probably benign	Het
Catsperb	G	A	12: 101,429,378 (GRCm39)	V184M	probably damaging	Het
Eprs1	G	T	1: 185,139,345 (GRCm39)	C910F	probably benign	Het
Olfm4	T	C	14: 80,258,583 (GRCm39)	V277A	probably benign	Het
Samd3	A	G	10: 26,127,744 (GRCm39)	H247R	probably damaging	Het
Zfp558	A	T	9: 18,367,883 (GRCm39)	C302S	possibly 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
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
R2322:Ppp4r3a	UTSW	12	101,008,878 (GRCm39)	missense	probably damaging	0.98
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

Posted On

2012-04-20