Mutagenetix > Incidental Mutation

Incidental Mutation 'R9752:Ppp4r3a'

732596

Institutional Source

Beutler Lab

Gene Symbol

Ppp4r3a

Ensembl Gene

ENSMUSG00000041846

Gene Name

protein phosphatase 4 regulatory subunit 3A

Synonyms

1110034C04Rik, Smek1

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9752 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101005668-101049961 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 101008763 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 692 (N692K)

Ref Sequence

ENSEMBL: ENSMUSP00000041667 (fasta)

Gene Model

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

AlphaFold

Q6P2K6

Predicted Effect

probably benign
Transcript: ENSMUST00000048305
AA Change: N692K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000041667
Gene: ENSMUSG00000041846
AA Change: N692K

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 benign
Transcript: ENSMUST00000163095
AA Change: N705K

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000129654
Gene: ENSMUSG00000041846
AA Change: N705K

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

probably benign
Transcript: ENSMUST00000223091

Predicted Effect

probably damaging
Transcript: ENSMUST00000223459
AA Change: N81K

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano2	C	T	6: 125,840,499 (GRCm39)	T390I	probably damaging	Het
Cc2d2b	T	C	19: 40,781,271 (GRCm39)	V772A	probably damaging	Het
Cd109	A	G	9: 78,614,834 (GRCm39)	I1294V	probably benign	Het
Cic	A	G	7: 24,971,403 (GRCm39)	E378G	probably damaging	Het
Clhc1	C	T	11: 29,507,778 (GRCm39)	P175L	probably benign	Het
Clip1	T	C	5: 123,760,009 (GRCm39)	E783G	probably damaging	Het
Cnot1	A	G	8: 96,488,019 (GRCm39)	Y546H	probably damaging	Het
Cog7	C	A	7: 121,580,639 (GRCm39)		probably null	Het
Cr2	T	C	1: 194,823,575 (GRCm39)	T1008A	probably benign	Het
Diaph1	T	C	18: 38,036,124 (GRCm39)	T196A	unknown	Het
Entr1	T	C	2: 26,276,990 (GRCm39)	N247D	probably benign	Het
Flg2	A	T	3: 93,108,467 (GRCm39)	D165V	probably damaging	Het
Fstl1	T	G	16: 37,649,534 (GRCm39)	N249K	probably damaging	Het
Gatad2a	A	G	8: 70,364,839 (GRCm39)	V515A	probably benign	Het
Gbp2b	A	T	3: 142,313,917 (GRCm39)	D399V	probably benign	Het
Gna14	G	A	19: 16,586,781 (GRCm39)	V319I	probably benign	Het
Grip1	A	G	10: 119,871,256 (GRCm39)	D661G	possibly damaging	Het
Gtf3c4	C	A	2: 28,724,126 (GRCm39)	L535F	probably damaging	Het
Haus8	A	C	8: 71,715,731 (GRCm39)	S36A	probably damaging	Het
Hectd4	A	T	5: 121,448,744 (GRCm39)	Y364F	probably benign	Het
Hectd4	C	T	5: 121,472,415 (GRCm39)	A2717V	possibly damaging	Het
Hsf5	C	T	11: 87,513,709 (GRCm39)	T258M	probably benign	Het
Ifi209	A	T	1: 173,472,235 (GRCm39)	I359F	probably damaging	Het
Ighmbp2	A	G	19: 3,324,360 (GRCm39)	V302A	probably benign	Het
Iqgap3	C	A	3: 88,016,176 (GRCm39)	F986L	probably damaging	Het
Itgav	T	A	2: 83,600,451 (GRCm39)		probably null	Het
Kcp	A	T	6: 29,497,754 (GRCm39)	D502E	probably damaging	Het
Kif15	T	C	9: 122,824,890 (GRCm39)		probably null	Het
Lipo2	C	G	19: 33,723,221 (GRCm39)	K189N	possibly damaging	Het
Lrch4	T	A	5: 137,636,218 (GRCm39)	S390T	probably benign	Het
Mast2	G	T	4: 116,179,508 (GRCm39)	H389N	probably benign	Het
Med13	A	G	11: 86,174,147 (GRCm39)	Y1784H	possibly damaging	Het
Micu3	A	G	8: 40,833,751 (GRCm39)	K462E	possibly damaging	Het
Mrps10	T	C	17: 47,683,572 (GRCm39)		probably null	Het
Msh6	T	C	17: 88,293,963 (GRCm39)	L906P	probably damaging	Het
Nphp4	A	G	4: 152,621,737 (GRCm39)	E531G	probably benign	Het
Nrp2	A	T	1: 62,851,726 (GRCm39)	Y825F	probably benign	Het
Ntn1	C	T	11: 68,276,712 (GRCm39)	V79M	possibly damaging	Het
Nxnl2	A	G	13: 51,325,507 (GRCm39)	D50G	probably damaging	Het
Or1e16	T	A	11: 73,286,479 (GRCm39)	Y123F	possibly damaging	Het
Or2t26	T	C	11: 49,039,681 (GRCm39)	M199T	probably benign	Het
Or52h9	A	T	7: 104,202,530 (GRCm39)	I135F	possibly damaging	Het
Or52r1c	T	A	7: 102,735,669 (GRCm39)	C310S	probably benign	Het
Or6c219	T	C	10: 129,780,990 (GRCm39)	R314G	probably benign	Het
Or7e176	G	A	9: 20,171,204 (GRCm39)	V23I	probably benign	Het
Ppp1r42	A	G	1: 10,073,674 (GRCm39)		probably benign	Het
Prr11	T	C	11: 86,994,416 (GRCm39)	T77A	possibly damaging	Het
Resf1	T	A	6: 149,228,068 (GRCm39)	N371K	probably benign	Het
Rrn3	A	G	16: 13,631,095 (GRCm39)	I644V	probably benign	Het
Scd4	T	C	19: 44,322,475 (GRCm39)	S23P	probably benign	Het
Slc26a2	T	A	18: 61,335,010 (GRCm39)	S148C	probably benign	Het
Slc7a8	T	C	14: 54,995,931 (GRCm39)	E157G	probably benign	Het
Spi1	A	G	2: 90,943,666 (GRCm39)	H70R	probably benign	Het
Styk1	CTCTTCATGATTTTCTT	CTCTT	6: 131,278,612 (GRCm39)		probably benign	Het
Tlr4	A	G	4: 66,757,912 (GRCm39)	N235S	probably benign	Het
Trpc6	C	A	9: 8,643,641 (GRCm39)	S475R	probably benign	Het
Usp34	C	T	11: 23,409,182 (GRCm39)	P2674L	probably benign	Het
Usp48	G	A	4: 137,341,137 (GRCm39)	G379D	probably damaging	Het
Vkorc1l1	T	A	5: 130,011,078 (GRCm39)	C97*	probably null	Het
Wfikkn2	T	C	11: 94,129,211 (GRCm39)	E310G	probably benign	Het
Zfp266	T	A	9: 20,411,496 (GRCm39)	N227I	probably benign	Het
Zfp335	C	T	2: 164,749,347 (GRCm39)		probably null	Het
Zfp677	T	A	17: 21,618,511 (GRCm39)	C523S	probably damaging	Het
Zrsr2	GCTCCTCCTCCTCCTCCT	GCTCCTCCTCCTCCT	X: 162,719,750 (GRCm39)		probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- CCTTTACAGTCAGCAATTCAGCC -3'
(R):5'- GGATCAGCCCCAGGATAATG -3'

Sequencing Primer
(F):5'- GTCAGCAATTCAGCCACATCCTG -3'
(R):5'- GCCCCAGGATAATGTTAAGCTATGTC -3'

Posted On

2022-11-14