Mutagenetix > Incidental Mutation

Incidental Mutation 'R1434:Ppp4r3a'

159403

Institutional Source

Beutler Lab

Gene Symbol

Ppp4r3a

Ensembl Gene

ENSMUSG00000041846

Gene Name

protein phosphatase 4 regulatory subunit 3A

Synonyms

1110034C04Rik, Smek1

MMRRC Submission

039489-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.348) question?

Stock #

R1434 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101039409-101083702 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 101043524 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 618 (V618E)

Ref Sequence

ENSEMBL: ENSMUSP00000041667 (fasta)

Gene Model

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

AlphaFold

Q6P2K6

Predicted Effect

probably damaging
Transcript: ENSMUST00000048305
AA Change: V618E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000041667
Gene: ENSMUSG00000041846
AA Change: V618E

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

possibly damaging
Transcript: ENSMUST00000163095
AA Change: V631E

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000129654
Gene: ENSMUSG00000041846
AA Change: V631E

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: V7E

Meta Mutation Damage Score

0.3928

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.4%

Validation Efficiency

99% (73/74)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4430402I18Rik	G	T	19: 28,927,639		probably benign	Het
Abca12	G	T	1: 71,309,800	H851N	probably benign	Het
Adamtsl4	T	C	3: 95,680,784	Y631C	probably damaging	Het
Ankhd1	A	G	18: 36,625,159	I969V	probably benign	Het
Apob	A	G	12: 8,009,715	I2699M	probably damaging	Het
Aqr	A	T	2: 114,150,409	L297Q	probably damaging	Het
BC067074	G	A	13: 113,368,492	V510I	possibly damaging	Het
Camsap1	A	G	2: 25,945,178	Y301H	probably damaging	Het
Ccdc88c	A	G	12: 100,939,166		probably benign	Het
Cd209b	T	A	8: 3,923,367	I106F	possibly damaging	Het
Cdkn1b	T	A	6: 134,921,097	W60R	probably damaging	Het
Coasy	A	G	11: 101,084,996		probably benign	Het
Col2a1	T	A	15: 97,979,651	Q1017L	probably damaging	Het
Ctnnal1	T	A	4: 56,847,971	N56I	probably damaging	Het
Cyb561d2	T	A	9: 107,541,643		probably benign	Het
Dcst1	G	T	3: 89,352,519	T632N	probably damaging	Het
Ddx1	C	T	12: 13,237,231	V267I	probably benign	Het
Dnah10	A	T	5: 124,774,986	M1736L	probably benign	Het
Eln	G	A	5: 134,729,437		probably benign	Het
Enpp2	A	T	15: 54,862,681	D566E	probably damaging	Het
Ezh1	T	C	11: 101,194,917	K638R	probably damaging	Het
Fam172a	A	T	13: 77,761,922	Y98F	probably damaging	Het
Fdx1l	C	A	9: 21,073,398	G37W	probably benign	Het
Grin2b	T	C	6: 135,843,195	I340V	probably benign	Het
Ikbkap	T	A	4: 56,781,193	E493D	probably benign	Het
Il16	T	C	7: 83,655,312	T671A	probably benign	Het
Kcnd2	T	A	6: 21,216,357	M20K	probably damaging	Het
Kndc1	C	T	7: 139,922,684	S962F	probably damaging	Het
L1td1	A	G	4: 98,737,817	S750G	possibly damaging	Het
Lama2	A	G	10: 27,208,370	C935R	probably damaging	Het
Lgalsl	T	C	11: 20,826,418	D158G	possibly damaging	Het
Lman1	A	T	18: 65,993,073		probably null	Het
Lmtk2	A	G	5: 144,174,589	E709G	probably damaging	Het
Lrfn3	T	C	7: 30,355,927	H531R	possibly damaging	Het
Mark3	A	G	12: 111,623,325		probably benign	Het
Mov10	T	C	3: 104,795,174	E997G	probably damaging	Het
Myo15	T	A	11: 60,504,331	W2484R	probably benign	Het
Myo1g	G	T	11: 6,509,372	Q833K	probably benign	Het
Ncoa3	T	A	2: 166,055,510	D740E	probably benign	Het
Nol12	A	G	15: 78,937,953		probably benign	Het
Nrxn2	T	A	19: 6,443,612		probably null	Het
Nsfl1c	A	C	2: 151,500,746	I79L	probably benign	Het
Olfr1462	A	G	19: 13,191,298	I210M	probably benign	Het
Olfr173	G	T	16: 58,797,448	H133N	probably benign	Het
Olfr691	T	C	7: 105,337,261	I152V	probably benign	Het
Osbpl8	A	C	10: 111,291,581	E842A	probably benign	Het
Pdxk	G	T	10: 78,440,811	T310K	probably benign	Het
Phip	T	G	9: 82,959,605	K54Q	probably damaging	Het
Pklr	A	T	3: 89,143,035	D366V	probably damaging	Het
Plxna2	T	A	1: 194,751,540		probably benign	Het
Prdm12	A	T	2: 31,640,307	Q70L	possibly damaging	Het
Ptpn21	A	T	12: 98,688,590	M706K	probably damaging	Het
Ptprq	A	T	10: 107,586,714	F1606I	probably damaging	Het
Rasgrp4	T	C	7: 29,137,727		probably null	Het
Rlbp1	C	A	7: 79,379,913		probably null	Het
Rtp2	T	C	16: 23,927,443	D166G	probably benign	Het
Ryr3	A	C	2: 112,645,259	F4481V	probably damaging	Het
Scn2a	A	G	2: 65,701,991	D649G	possibly damaging	Het
Slc30a5	T	A	13: 100,803,442	D655V	probably damaging	Het
Slco5a1	G	A	1: 12,871,908	A838V	probably benign	Het
Srprb	A	G	9: 103,190,302	V239A	probably damaging	Het
Tceanc2	T	C	4: 107,147,640	T104A	probably benign	Het
Tcp1	T	C	17: 12,922,606		probably null	Het
Unc13b	C	T	4: 43,239,385	R1056*	probably null	Het
Wdr19	G	A	5: 65,223,504		probably benign	Het
Zadh2	A	G	18: 84,094,471	K91E	probably benign	Het
Zfhx4	T	A	3: 5,241,859	H48Q	probably benign	Het
Zfp787	T	A	7: 6,132,235	H339L	probably damaging	Het
Zfp839	G	T	12: 110,860,899	R408L	probably benign	Het

Other mutations in Ppp4r3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00227:Ppp4r3a	APN	12	101049794	missense	probably damaging	1.00
IGL00532:Ppp4r3a	APN	12	101044653	missense	probably damaging	1.00
IGL01359:Ppp4r3a	APN	12	101058496	missense	probably damaging	0.99
IGL01873:Ppp4r3a	APN	12	101041835	missense	possibly damaging	0.86
IGL02676:Ppp4r3a	APN	12	101042511	missense	probably benign	0.00
IGL02756:Ppp4r3a	APN	12	101058323	critical splice donor site	probably null
IGL03196:Ppp4r3a	APN	12	101049654	splice site	probably benign
IGL03206:Ppp4r3a	APN	12	101058619	missense	probably damaging	1.00
R1101:Ppp4r3a	UTSW	12	101051571	missense	probably damaging	0.98
R1526:Ppp4r3a	UTSW	12	101040741	missense	probably damaging	0.99
R1554:Ppp4r3a	UTSW	12	101055822	missense	probably damaging	1.00
R1650:Ppp4r3a	UTSW	12	101044619	missense	probably damaging	0.99
R1766:Ppp4r3a	UTSW	12	101058482	missense	probably damaging	0.99
R2152:Ppp4r3a	UTSW	12	101042567	missense	probably damaging	0.99
R2322:Ppp4r3a	UTSW	12	101042619	missense	probably damaging	0.98
R2421:Ppp4r3a	UTSW	12	101042653	splice site	probably benign
R2422:Ppp4r3a	UTSW	12	101042653	splice site	probably benign
R2859:Ppp4r3a	UTSW	12	101042647	critical splice acceptor site	probably null
R2884:Ppp4r3a	UTSW	12	101068677	missense	probably damaging	0.99
R4157:Ppp4r3a	UTSW	12	101055619	missense	probably damaging	0.97
R4651:Ppp4r3a	UTSW	12	101082911	utr 5 prime	probably benign
R4652:Ppp4r3a	UTSW	12	101082911	utr 5 prime	probably benign
R4706:Ppp4r3a	UTSW	12	101041916	missense	probably damaging	1.00
R4773:Ppp4r3a	UTSW	12	101082767	missense	possibly damaging	0.93
R4775:Ppp4r3a	UTSW	12	101053566	missense	probably damaging	0.99
R5467:Ppp4r3a	UTSW	12	101043470	missense	probably damaging	0.99
R5634:Ppp4r3a	UTSW	12	101043521	missense	probably damaging	1.00
R5704:Ppp4r3a	UTSW	12	101083360	utr 5 prime	probably benign
R5707:Ppp4r3a	UTSW	12	101058511	missense	probably damaging	1.00
R5935:Ppp4r3a	UTSW	12	101051613	missense	probably damaging	1.00
R5969:Ppp4r3a	UTSW	12	101043579	missense	probably benign
R6030:Ppp4r3a	UTSW	12	101058400	missense	probably damaging	0.97
R6030:Ppp4r3a	UTSW	12	101058400	missense	probably damaging	0.97
R6630:Ppp4r3a	UTSW	12	101049776	missense	probably damaging	1.00
R7265:Ppp4r3a	UTSW	12	101053511	missense	possibly damaging	0.77
R7352:Ppp4r3a	UTSW	12	101041832	missense	probably damaging	1.00
R7402:Ppp4r3a	UTSW	12	101058794	missense	possibly damaging	0.94
R7761:Ppp4r3a	UTSW	12	101055821	missense	probably damaging	0.98
R7808:Ppp4r3a	UTSW	12	101053496	missense	possibly damaging	0.94
R7811:Ppp4r3a	UTSW	12	101053562	missense	probably damaging	0.98
R8062:Ppp4r3a	UTSW	12	101041971	missense	probably damaging	0.98
R8409:Ppp4r3a	UTSW	12	101042493	missense	probably benign	0.02
R8435:Ppp4r3a	UTSW	12	101082789	missense	probably benign	0.19
R8471:Ppp4r3a	UTSW	12	101055642	missense	probably benign	0.01
R9010:Ppp4r3a	UTSW	12	101058332	missense	possibly damaging	0.58
R9137:Ppp4r3a	UTSW	12	101055535	missense	possibly damaging	0.95
R9335:Ppp4r3a	UTSW	12	101040754	missense	probably damaging	1.00
R9336:Ppp4r3a	UTSW	12	101049660	missense	probably benign
R9666:Ppp4r3a	UTSW	12	101082870	start codon destroyed	probably null	0.39
R9752:Ppp4r3a	UTSW	12	101042504	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTGTCCTGAGGATACACCATCCCC -3'
(R):5'- GACTCATCTCGTGACAGTTCTGCC -3'

Sequencing Primer
(F):5'- CCATCCCCCATCACAGTG -3'
(R):5'- tgtgtgccactgtgtcc -3'

Posted On

2014-03-14