Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02756:Ppp4r3a'

306474

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: 0.387) question?

Stock #

IGL02756

Quality Score

Status

Chromosome

Chromosomal Location

101039409-101083702 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 101058323 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129654 (fasta)

Gene Model

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

AlphaFold

Q6P2K6

Predicted Effect

probably null
Transcript: ENSMUST00000048305

SMART Domains

Protein: ENSMUSP00000041667
Gene: ENSMUSG00000041846

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 null
Transcript: ENSMUST00000048305

SMART Domains

Protein: ENSMUSP00000041667
Gene: ENSMUSG00000041846

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 null
Transcript: ENSMUST00000048305

SMART Domains

Protein: ENSMUSP00000041667
Gene: ENSMUSG00000041846

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 null
Transcript: ENSMUST00000163095

SMART Domains

Protein: ENSMUSP00000129654
Gene: ENSMUSG00000041846

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 null
Transcript: ENSMUST00000163095

SMART Domains

Protein: ENSMUSP00000129654
Gene: ENSMUSG00000041846

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 null
Transcript: ENSMUST00000163095

SMART Domains

Protein: ENSMUSP00000129654
Gene: ENSMUSG00000041846

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: ENSMUST00000223161

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	T	10: 87,165,108	D54V	probably damaging	Het
Adamts18	C	A	8: 113,714,344		probably benign	Het
Angptl3	T	A	4: 99,031,162	L53Q	probably damaging	Het
Apc	A	G	18: 34,314,535	T1461A	probably damaging	Het
Arl11	T	A	14: 61,311,086	V115D	probably damaging	Het
Cabp4	C	A	19: 4,138,561	V173L	possibly damaging	Het
Casq1	T	A	1: 172,215,105	D230V	probably damaging	Het
Cdc42bpa	A	G	1: 180,109,259	I821V	possibly damaging	Het
Cfap65	T	C	1: 74,905,080	Y1494C	probably benign	Het
Chd1	T	A	17: 15,730,807	S215T	probably damaging	Het
Csf2rb2	T	C	15: 78,284,849	E593G	possibly damaging	Het
Cstf1	A	G	2: 172,375,875	D136G	probably damaging	Het
Ddx19b	T	C	8: 111,011,278		probably benign	Het
Dido1	A	T	2: 180,661,923	L1396Q	probably benign	Het
Ermn	A	G	2: 58,047,812	I263T	probably damaging	Het
F12	T	A	13: 55,421,067	Q294L	possibly damaging	Het
Far2	A	T	6: 148,157,391	I192F	probably damaging	Het
Fshb	T	A	2: 107,058,873	I29F	probably damaging	Het
Gcgr	T	A	11: 120,536,985	Y251N	probably benign	Het
Gpr158	A	G	2: 21,827,079	I997V	possibly damaging	Het
Gprc5d	A	G	6: 135,116,615	V98A	probably damaging	Het
H2-T23	T	C	17: 36,031,688	E186G	probably damaging	Het
Khdrbs3	C	T	15: 69,024,836	T115I	probably benign	Het
Kifap3	C	T	1: 163,862,028	T527M	probably damaging	Het
Mfsd2a	C	T	4: 122,948,539	A512T	probably benign	Het
Mmp9	A	G	2: 164,949,315	D135G	probably benign	Het
Mylk	T	C	16: 34,963,646	V1394A	probably benign	Het
Nek9	A	C	12: 85,311,336		probably null	Het
Olfr1008	T	C	2: 85,690,058	S210P	probably damaging	Het
Olfr638	T	C	7: 104,003,659	I128T	probably damaging	Het
P2rx2	T	A	5: 110,342,410		probably benign	Het
P4htm	A	G	9: 108,579,778	L410P	probably damaging	Het
Pik3c2a	A	T	7: 116,364,513	W921R	probably benign	Het
Pnisr	T	C	4: 21,862,175	F288L	probably benign	Het
Prss34	T	C	17: 25,299,277	S144P	probably damaging	Het
Qrsl1	T	C	10: 43,882,114	T328A	probably benign	Het
Rab33b	A	T	3: 51,484,524	T65S	probably damaging	Het
Rdh8	A	G	9: 20,825,341	S235G	possibly damaging	Het
Rrp12	T	C	19: 41,896,061	K6R	probably benign	Het
Sec24a	T	C	11: 51,696,733	D1025G	probably benign	Het
Sgo2a	T	G	1: 58,016,350	N564K	probably damaging	Het
Slc43a3	A	T	2: 84,944,268	M130L	probably benign	Het
Soat1	T	C	1: 156,446,575	I89V	probably benign	Het
St3gal5	A	G	6: 72,149,173	D307G	probably null	Het
Stxbp3-ps	C	T	19: 9,557,829		noncoding transcript	Het
Tacr2	A	G	10: 62,261,690		probably benign	Het
Tg	C	T	15: 66,734,586	T193I	probably benign	Het
Tnik	A	G	3: 28,542,030	T191A	probably damaging	Het
Trim27	T	C	13: 21,190,086		probably benign	Het
Usf2	A	T	7: 30,946,992	C134*	probably null	Het
Usp14	A	G	18: 10,001,769		probably null	Het
Usp47	T	C	7: 112,093,063	S911P	possibly damaging	Het
Vmn1r73	T	A	7: 11,756,647	S131T	possibly damaging	Het
Vmn2r80	T	C	10: 79,194,311	I657T	probably damaging	Het
Zfp935	A	T	13: 62,454,887	C166*	probably null	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
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
R1434:Ppp4r3a	UTSW	12	101043524	missense	probably damaging	0.99
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
R8222:Ppp4r3a	UTSW	12	101041905	missense	probably benign	0.09
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

Posted On

2015-04-16