Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02634:Ppp6r2'

301426

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppp6r2

Ensembl Gene

ENSMUSG00000036561

Gene Name

protein phosphatase 6, regulatory subunit 2

Synonyms

Pp6r2, Saps2, 1110033O10Rik, 8430411H09Rik, B230107H12Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.161) question?

Stock #

IGL02634

Quality Score

Status

Chromosome

Chromosomal Location

89211553-89287010 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 89275477 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 456 (Q456*)

Ref Sequence

ENSEMBL: ENSMUSP00000154087 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088788] [ENSMUST00000228284]

Predicted Effect

probably null
Transcript: ENSMUST00000088788
AA Change: Q456*

SMART Domains

Protein: ENSMUSP00000086167
Gene: ENSMUSG00000036561
AA Change: Q456*

Domain	Start	End	E-Value	Type
Pfam:SAPS	128	365	1.7e-73	PFAM
Pfam:SAPS	361	534	2.4e-47	PFAM
low complexity region	606	618	N/A	INTRINSIC
low complexity region	788	802	N/A	INTRINSIC
low complexity region	867	900	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226875

Predicted Effect

probably null
Transcript: ENSMUST00000228284
AA Change: Q456*

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 SAPS2, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS2 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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810046K07Rik	A	G	9: 51,291,755	L33P	possibly damaging	Het
Adamts2	T	A	11: 50,792,721	C943*	probably null	Het
Arhgef28	A	T	13: 98,051,058	V243D	probably benign	Het
Arrdc3	T	A	13: 80,890,765	I62K	probably damaging	Het
Atm	T	C	9: 53,516,563	T416A	probably benign	Het
AW209491	A	G	13: 14,637,683	T374A	probably damaging	Het
Brcc3	T	C	X: 75,436,098		probably benign	Het
Ccdc181	T	G	1: 164,279,945	S66A	probably benign	Het
Ccdc62	T	C	5: 123,954,257	I435T	probably benign	Het
Cdc14b	C	A	13: 64,216,303		probably benign	Het
Chst5	A	G	8: 111,890,845	S48P	probably damaging	Het
Ciita	C	A	16: 10,508,713	S253Y	probably damaging	Het
Dock7	C	T	4: 98,989,296	R1005H	probably damaging	Het
Dsg4	A	T	18: 20,458,580	I459F	probably benign	Het
Enpep	T	C	3: 129,309,857	E361G	probably damaging	Het
Fblim1	T	C	4: 141,583,111	D280G	probably benign	Het
Fignl1	G	A	11: 11,802,756	R100*	probably null	Het
Ggcx	G	T	6: 72,418,303	A126S	probably damaging	Het
Hdgfl1	A	G	13: 26,769,803	S96P	probably benign	Het
Iqgap2	G	A	13: 95,628,114	L1541F	probably damaging	Het
Itga8	T	C	2: 12,140,478	E888G	possibly damaging	Het
Kank4	T	A	4: 98,778,827	Q461L	probably benign	Het
Klhl20	C	T	1: 161,098,365	V438M	probably damaging	Het
Klrc3	A	T	6: 129,643,208	S27R	probably damaging	Het
Ksr2	T	C	5: 117,763,329		probably benign	Het
Lrrc37a	C	T	11: 103,499,112	S1829N	probably benign	Het
Obscn	A	G	11: 59,054,785	L4585P	probably damaging	Het
Olfr480	T	C	7: 108,066,771	N9S	probably benign	Het
Palm3	T	G	8: 84,028,865	S335R	probably damaging	Het
Pcsk7	C	T	9: 45,919,262	A446V	possibly damaging	Het
Penk	A	G	4: 4,134,065	L194P	possibly damaging	Het
Pkhd1l1	T	C	15: 44,539,667	F2255S	probably damaging	Het
Plcd3	G	A	11: 103,077,827	S31F	probably damaging	Het
Rbbp8nl	T	C	2: 180,280,895	D235G	probably benign	Het
Ror1	T	A	4: 100,426,110	N457K	probably benign	Het
Rpgrip1l	C	A	8: 91,225,344		probably benign	Het
Sdk1	T	C	5: 141,610,032	F148L	probably benign	Het
Slc45a2	A	T	15: 11,023,354	H348L	probably benign	Het
Smg8	C	T	11: 87,086,672	A28T	probably benign	Het
Snx14	A	G	9: 88,403,303	I436T	probably damaging	Het
Synj2	G	A	17: 6,029,760	R1088H	probably damaging	Het
Tubb6	T	C	18: 67,402,296	Y422H	probably damaging	Het
Unc13a	T	A	8: 71,655,701	I503F	probably benign	Het
Unc13d	A	G	11: 116,070,556		probably benign	Het
Zp1	T	C	19: 10,919,507		probably benign	Het

Other mutations in Ppp6r2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00272:Ppp6r2	APN	15	89285813	missense	probably benign	0.44
IGL00480:Ppp6r2	APN	15	89265249	splice site	probably benign
IGL01061:Ppp6r2	APN	15	89286015	splice site	probably benign
IGL01116:Ppp6r2	APN	15	89281989	missense	probably damaging	1.00
IGL01317:Ppp6r2	APN	15	89285928	missense	possibly damaging	0.62
IGL01947:Ppp6r2	APN	15	89278726	missense	probably damaging	1.00
IGL01969:Ppp6r2	APN	15	89275510	missense	probably damaging	0.99
IGL01999:Ppp6r2	APN	15	89269952	missense	probably benign	0.09
IGL02697:Ppp6r2	APN	15	89256755	missense	probably benign	0.38
IGL02964:Ppp6r2	APN	15	89259175	missense	probably damaging	1.00
IGL03107:Ppp6r2	APN	15	89268545	missense	probably damaging	0.98
IGL03195:Ppp6r2	APN	15	89268555	missense	possibly damaging	0.50
R0020:Ppp6r2	UTSW	15	89259139	missense	probably damaging	1.00
R0020:Ppp6r2	UTSW	15	89259139	missense	probably damaging	1.00
R0183:Ppp6r2	UTSW	15	89285787	missense	probably damaging	0.99
R0745:Ppp6r2	UTSW	15	89265242	critical splice donor site	probably null
R0835:Ppp6r2	UTSW	15	89268582	missense	possibly damaging	0.90
R0959:Ppp6r2	UTSW	15	89274176	missense	possibly damaging	0.81
R1661:Ppp6r2	UTSW	15	89253051	missense	possibly damaging	0.96
R1867:Ppp6r2	UTSW	15	89281938	missense	probably benign	0.01
R2081:Ppp6r2	UTSW	15	89282129	missense	probably benign	0.01
R2102:Ppp6r2	UTSW	15	89278746	missense	probably damaging	1.00
R2291:Ppp6r2	UTSW	15	89275487	missense	probably damaging	1.00
R2900:Ppp6r2	UTSW	15	89281995	missense	probably damaging	1.00
R3805:Ppp6r2	UTSW	15	89265639	missense	probably benign	0.30
R3965:Ppp6r2	UTSW	15	89259114	missense	probably benign	0.20
R4374:Ppp6r2	UTSW	15	89265158	missense	probably damaging	1.00
R4901:Ppp6r2	UTSW	15	89259069	missense	possibly damaging	0.88
R5055:Ppp6r2	UTSW	15	89282949	missense	probably benign	0.01
R5668:Ppp6r2	UTSW	15	89280399	missense	probably damaging	1.00
R5739:Ppp6r2	UTSW	15	89259073	missense	probably benign	0.02
R6026:Ppp6r2	UTSW	15	89282910	missense	probably benign	0.02
R6058:Ppp6r2	UTSW	15	89253252	critical splice donor site	probably null
R6488:Ppp6r2	UTSW	15	89268538	missense	probably benign	0.12
R6631:Ppp6r2	UTSW	15	89253255	splice site	probably null
R6633:Ppp6r2	UTSW	15	89253255	splice site	probably null
R6744:Ppp6r2	UTSW	15	89256661	critical splice acceptor site	probably null
R7149:Ppp6r2	UTSW	15	89262396	missense	probably damaging	1.00
R7754:Ppp6r2	UTSW	15	89256701	missense	probably benign	0.12
R8326:Ppp6r2	UTSW	15	89280447	missense	probably benign	0.05

Posted On

2015-04-16