Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02805:Ppp6r3'

360380

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppp6r3

Ensembl Gene

ENSMUSG00000024908

Gene Name

protein phosphatase 6, regulatory subunit 3

Synonyms

Pp6r3, D19Ertd703e, D19Bwg1430e, 4930528G08Rik, Saps3, 9130026N02Rik, Pptcs3

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.844) question?

Stock #

IGL02805

Quality Score

Status

Chromosome

Chromosomal Location

3454928-3575749 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3492428 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 406 (N406D)

Ref Sequence

ENSEMBL: ENSMUSP00000131084 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025846] [ENSMUST00000113997] [ENSMUST00000172362]

Predicted Effect

probably benign
Transcript: ENSMUST00000025846
AA Change: N406D

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000025846
Gene: ENSMUSG00000024908
AA Change: N406D

Domain	Start	End	E-Value	Type
coiled coil region	25	52	N/A	INTRINSIC
Pfam:SAPS	128	365	2.7e-69	PFAM
Pfam:SAPS	360	513	1.4e-44	PFAM
low complexity region	609	627	N/A	INTRINSIC
low complexity region	743	758	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000101958

Predicted Effect

probably benign
Transcript: ENSMUST00000113997
AA Change: N406D

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000109630
Gene: ENSMUSG00000024908
AA Change: N406D

Domain	Start	End	E-Value	Type
coiled coil region	25	52	N/A	INTRINSIC
Pfam:SAPS	128	365	5.8e-69	PFAM
Pfam:SAPS	363	513	2.7e-44	PFAM
low complexity region	638	656	N/A	INTRINSIC
low complexity region	772	787	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172362
AA Change: N406D

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000131084
Gene: ENSMUSG00000024908
AA Change: N406D

Domain	Start	End	E-Value	Type
coiled coil region	25	52	N/A	INTRINSIC
Pfam:SAPS	128	365	2.6e-69	PFAM
Pfam:SAPS	360	513	1.3e-44	PFAM
low complexity region	592	610	N/A	INTRINSIC
low complexity region	726	741	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223919

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224419

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225446

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225705

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Protein phosphatase regulatory subunits, such as SAPS3, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS3 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	C	11: 84,223,133		probably benign	Het
Ankdd1b	A	G	13: 96,444,302	S163P	probably benign	Het
Ap5z1	G	A	5: 142,470,283		probably benign	Het
Asb14	A	G	14: 26,901,187	N172S	possibly damaging	Het
Avil	G	A	10: 127,007,617	V139I	possibly damaging	Het
C130073F10Rik	A	T	4: 101,890,974	M1K	probably null	Het
Ccdc189	T	C	7: 127,586,394	D121G	possibly damaging	Het
Ccdc33	T	A	9: 58,098,591	I37F	probably benign	Het
Ccdc9	T	C	7: 16,275,274	M550V	probably benign	Het
Cgn	T	A	3: 94,774,377	L469F	probably damaging	Het
Dnaaf3	C	T	7: 4,523,705	G458R	possibly damaging	Het
Dscaml1	T	A	9: 45,447,897	N151K	probably damaging	Het
Dsel	A	G	1: 111,862,316	V163A	probably damaging	Het
Dusp27	T	C	1: 166,099,061	E994G	probably damaging	Het
Epg5	A	G	18: 78,030,191		probably benign	Het
Fanca	A	T	8: 123,289,494	I670N	probably damaging	Het
Fsip2	T	C	2: 82,993,495	V6524A	probably benign	Het
Gm10985	T	C	3: 53,845,093		probably null	Het
Gm1818	C	T	12: 48,555,735		noncoding transcript	Het
Hars2	C	T	18: 36,787,577	R158*	probably null	Het
Htr5b	A	G	1: 121,527,888	V101A	probably damaging	Het
Ipp	A	G	4: 116,529,688	I356V	possibly damaging	Het
Itga8	T	A	2: 12,189,480	N703I	possibly damaging	Het
Olfr147	T	A	9: 38,403,836		probably benign	Het
Rbbp6	G	A	7: 123,001,188		probably benign	Het
Rgs7	T	C	1: 175,149,696	Y114C	probably damaging	Het
Ripor1	A	G	8: 105,617,571	T446A	probably damaging	Het
Rnf213	A	G	11: 119,435,066	D1562G	probably damaging	Het
Scaf11	A	T	15: 96,420,182	D500E	possibly damaging	Het
Spock1	A	G	13: 57,907,577	I4T	possibly damaging	Het
Srebf2	C	A	15: 82,169,844	N35K	probably benign	Het
Srgap3	G	T	6: 112,727,263	H922N	probably damaging	Het
Stk32c	A	C	7: 139,121,846	H112Q	probably damaging	Het
Thumpd3	A	G	6: 113,066,797	D391G	probably damaging	Het
Vmn2r38	T	A	7: 9,075,547	H612L	probably damaging	Het
Vsig10l	T	G	7: 43,465,242	I289S	probably damaging	Het
Wwox	G	A	8: 114,712,013	G273E	probably damaging	Het
Zscan4d	T	G	7: 11,164,970		probably benign	Het

Other mutations in Ppp6r3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Ppp6r3	APN	19	3514729	splice site	probably null
IGL00340:Ppp6r3	APN	19	3518324	missense	probably damaging	1.00
IGL00585:Ppp6r3	APN	19	3490826	missense	probably damaging	0.99
IGL01304:Ppp6r3	APN	19	3467261	missense	probably damaging	0.99
IGL02048:Ppp6r3	APN	19	3473848	missense	possibly damaging	0.96
IGL02055:Ppp6r3	APN	19	3521781	missense	probably benign	0.01
IGL02108:Ppp6r3	APN	19	3492494	missense	probably damaging	1.00
IGL02227:Ppp6r3	APN	19	3518245	missense	possibly damaging	0.56
IGL02427:Ppp6r3	APN	19	3466580	missense	probably null
IGL02441:Ppp6r3	APN	19	3464693	missense	probably benign	0.14
IGL03298:Ppp6r3	APN	19	3521829	missense	probably damaging	0.97
PIT1430001:Ppp6r3	UTSW	19	3471059	nonsense	probably null
R0324:Ppp6r3	UTSW	19	3464693	missense	probably benign	0.00
R0362:Ppp6r3	UTSW	19	3478285	missense	probably damaging	0.96
R1876:Ppp6r3	UTSW	19	3471971	splice site	probably benign
R2860:Ppp6r3	UTSW	19	3521782	missense	possibly damaging	0.49
R2861:Ppp6r3	UTSW	19	3521782	missense	possibly damaging	0.49
R2862:Ppp6r3	UTSW	19	3521782	missense	possibly damaging	0.49
R3958:Ppp6r3	UTSW	19	3496583	missense	probably damaging	0.99
R4158:Ppp6r3	UTSW	19	3512037	missense	probably damaging	0.97
R4160:Ppp6r3	UTSW	19	3512037	missense	probably damaging	0.97
R4473:Ppp6r3	UTSW	19	3511978	missense	probably damaging	1.00
R4901:Ppp6r3	UTSW	19	3467229	missense	probably damaging	1.00
R4996:Ppp6r3	UTSW	19	3473833	missense	probably damaging	0.98
R5139:Ppp6r3	UTSW	19	3464610	missense	probably damaging	1.00
R5414:Ppp6r3	UTSW	19	3507330	missense	probably damaging	1.00
R5776:Ppp6r3	UTSW	19	3526901	missense	possibly damaging	0.77
R6290:Ppp6r3	UTSW	19	3494011	missense	probably benign
R6525:Ppp6r3	UTSW	19	3493936	missense	probably damaging	0.99
R6797:Ppp6r3	UTSW	19	3514719	missense	probably damaging	1.00
R6977:Ppp6r3	UTSW	19	3467272	missense	probably damaging	1.00
R7176:Ppp6r3	UTSW	19	3471989	missense	probably damaging	0.99
R7178:Ppp6r3	UTSW	19	3518337	missense	probably benign	0.00
R7239:Ppp6r3	UTSW	19	3493981	missense	probably benign	0.38
R7326:Ppp6r3	UTSW	19	3507325	missense	probably damaging	1.00
R7536:Ppp6r3	UTSW	19	3507341	missense	possibly damaging	0.80
R7583:Ppp6r3	UTSW	19	3490790	missense	probably benign
R7991:Ppp6r3	UTSW	19	3459750	missense	probably benign
R8486:Ppp6r3	UTSW	19	3487072	missense	probably benign
R8699:Ppp6r3	UTSW	19	3496587	missense	probably damaging	1.00
R8818:Ppp6r3	UTSW	19	3467216	missense	probably benign	0.31
R8826:Ppp6r3	UTSW	19	3471984	missense
R8846:Ppp6r3	UTSW	19	3514654	missense	probably damaging	0.99
R8863:Ppp6r3	UTSW	19	3471030	missense	probably damaging	1.00
R8869:Ppp6r3	UTSW	19	3511927	critical splice donor site	probably null
R8895:Ppp6r3	UTSW	19	3494017	missense	probably damaging	1.00
R8909:Ppp6r3	UTSW	19	3459461	missense	probably benign	0.17

Posted On

2015-12-18