Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00332:Ppp6r3'

3275

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

Essential gene?

Probably essential (E-score: 0.914) question?

Stock #

IGL00332

Quality Score

Status

Chromosome

Chromosomal Location

3454928-3575749 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 3514729 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000131084 (fasta)

Gene Model

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

AlphaFold

Q922D4

Predicted Effect

probably null
Transcript: ENSMUST00000025846

SMART Domains

Protein: ENSMUSP00000025846
Gene: ENSMUSG00000024908

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

probably null
Transcript: ENSMUST00000113997

SMART Domains

Protein: ENSMUSP00000109630
Gene: ENSMUSG00000024908

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 null
Transcript: ENSMUST00000172362

SMART Domains

Protein: ENSMUSP00000131084
Gene: ENSMUSG00000024908

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: ENSMUST00000225339

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225446

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	T	C	3: 97,176,421	Y404H	possibly damaging	Het
Adgrv1	T	A	13: 81,472,877		probably benign	Het
Akap13	A	G	7: 75,728,919	K2107E	probably damaging	Het
Ankrd42	A	G	7: 92,584,454		probably benign	Het
Apba3	C	T	10: 81,273,067	P555S	probably damaging	Het
Aplnr	A	G	2: 85,137,641	S337G	probably benign	Het
Arhgef40	A	G	14: 51,988,960	N154D	probably damaging	Het
Asb14	A	G	14: 26,912,041	K401R	probably benign	Het
Aspn	C	A	13: 49,566,492	T328K	probably benign	Het
Barhl2	C	T	5: 106,455,499	A265T	possibly damaging	Het
Brca2	T	A	5: 150,539,898	H1042Q	probably benign	Het
C3	A	G	17: 57,226,004	L167P	probably benign	Het
Ccdc33	A	G	9: 58,069,974		probably benign	Het
Cdk10	T	A	8: 123,230,324	M222K	possibly damaging	Het
Cfap45	C	T	1: 172,535,345		probably benign	Het
Chil3	T	A	3: 106,148,701	N352I	probably damaging	Het
Chn2	G	T	6: 54,295,922		probably null	Het
Cpt1b	T	C	15: 89,420,863	E394G	probably benign	Het
Fam166b	G	A	4: 43,428,158	R100W	possibly damaging	Het
Fcgr2b	T	A	1: 170,961,230	N273I	possibly damaging	Het
Fpr-rs7	G	A	17: 20,113,218	Q337*	probably null	Het
Fras1	T	A	5: 96,739,358	N2666K	possibly damaging	Het
Gfra3	C	T	18: 34,691,548		probably null	Het
Gm4553	T	C	7: 142,165,227	S155G	unknown	Het
Gpr75	C	T	11: 30,891,590	T165I	probably damaging	Het
Gzmd	A	T	14: 56,130,280	C179S	probably damaging	Het
Hand1	T	G	11: 57,831,749	H13P	probably damaging	Het
Irak3	C	T	10: 120,178,067		probably null	Het
Isl2	T	A	9: 55,544,969	L275Q	possibly damaging	Het
Itgb2	T	C	10: 77,557,406	V367A	probably damaging	Het
Katna1	T	C	10: 7,762,994		probably benign	Het
Myh6	A	G	14: 54,946,993	M1627T	probably benign	Het
Naprt	A	G	15: 75,893,315	Y187H	probably damaging	Het
Nedd4	T	A	9: 72,735,089	V550E	probably damaging	Het
Nt5c2	A	G	19: 46,896,515	V252A	possibly damaging	Het
Olfr1089	T	C	2: 86,733,235	I126V	possibly damaging	Het
Olfr1504	C	T	19: 13,887,581	V210I	probably benign	Het
P2ry2	A	G	7: 100,998,186	V304A	probably damaging	Het
Pde4dip	T	C	3: 97,767,277	N108D	probably benign	Het
Pdgfrl	A	G	8: 40,985,623	T199A	probably damaging	Het
Plaa	A	G	4: 94,582,607	Y431H	probably benign	Het
Pls1	A	T	9: 95,782,419	I177N	possibly damaging	Het
Plxna2	T	C	1: 194,789,830	F1035L	probably damaging	Het
Prpf4b	T	C	13: 34,883,907	S240P	probably benign	Het
Reg2	T	A	6: 78,406,221	Y50*	probably null	Het
Rev3l	C	T	10: 39,806,969	T361I	probably benign	Het
Rps4l	A	G	6: 148,354,885		probably benign	Het
Scn11a	A	T	9: 119,769,916	F1183I	probably damaging	Het
Sh2b2	T	C	5: 136,224,419	E327G	probably damaging	Het
Shank2	A	G	7: 144,411,847	K1057R	probably damaging	Het
Sim2	T	A	16: 94,114,944	Y255*	probably null	Het
Snx9	A	G	17: 5,899,361	N112S	probably benign	Het
Sphkap	T	A	1: 83,280,516	I169F	probably damaging	Het
Spink5	A	G	18: 43,967,044	T43A	probably benign	Het
Stac2	C	T	11: 98,041,179	S265N	probably benign	Het
Tbx20	A	G	9: 24,758,748	V91A	probably damaging	Het
Tgfbr2	C	T	9: 116,110,189	R190H	probably damaging	Het
Ubr2	A	G	17: 46,990,990		probably null	Het
Wdfy3	C	T	5: 101,915,338		probably null	Het
Wdr82	T	C	9: 106,184,250	V166A	probably benign	Het
Zfhx4	C	T	3: 5,242,341	A209V	probably damaging	Het
Zfp518b	T	A	5: 38,673,766	T299S	possibly damaging	Het

Other mutations in Ppp6r3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL02805:Ppp6r3	APN	19	3492428	missense	probably benign	0.15
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
R9147:Ppp6r3	UTSW	19	3493974	missense	probably damaging	1.00
R9148:Ppp6r3	UTSW	19	3493974	missense	probably damaging	1.00
R9200:Ppp6r3	UTSW	19	3469748	missense	probably damaging	1.00

Posted On

2012-04-20