Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02158:Ppp2r1b'

282315

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppp2r1b

Ensembl Gene

ENSMUSG00000032058

Gene Name

protein phosphatase 2, regulatory subunit A, beta

Synonyms

2410091N08Rik

Accession Numbers

Ncbi RefSeq: NM_001034085.1, NM_028614.2; MGI:1920949

Is this an essential gene?

Possibly essential (E-score: 0.604) question?

Stock #

IGL02158

Quality Score

Status

Chromosome

Chromosomal Location

50845301-50894229 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 50861609 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 65 (Q65K)

Ref Sequence

ENSEMBL: ENSMUSP00000135758 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034560] [ENSMUST00000114437] [ENSMUST00000174628] [ENSMUST00000175640] [ENSMUST00000175645] [ENSMUST00000175926] [ENSMUST00000176349] [ENSMUST00000176798]

Predicted Effect

probably benign
Transcript: ENSMUST00000034560
AA Change: Q129K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000034560
Gene: ENSMUSG00000032058
AA Change: Q129K

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
Pfam:HEAT	178	208	2.2e-6	PFAM
Pfam:HEAT_EZ	182	243	9.9e-6	PFAM
Pfam:HEAT	295	325	5.9e-6	PFAM
Pfam:HEAT_2	378	479	1.1e-10	PFAM
Pfam:HEAT_2	495	596	5.1e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114437
AA Change: Q129K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110080
Gene: ENSMUSG00000032058
AA Change: Q129K

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
Pfam:HEAT	178	208	1.6e-6	PFAM
Pfam:HEAT_EZ	180	243	7.3e-6	PFAM
Pfam:HEAT	217	247	4.3e-5	PFAM
Pfam:HEAT	295	325	4.2e-6	PFAM
Pfam:HEAT_2	378	479	9e-11	PFAM
Pfam:HEAT_2	494	597	4.2e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174555

Predicted Effect

probably benign
Transcript: ENSMUST00000174628
AA Change: Q129K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000133404
Gene: ENSMUSG00000032058
AA Change: Q129K

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
Pfam:HEAT	178	208	4.6e-6	PFAM
Pfam:HEAT	217	247	4.5e-5	PFAM
Pfam:HEAT	295	325	4.3e-6	PFAM
Pfam:HEAT_2	378	479	1.7e-11	PFAM
low complexity region	643	655	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000175640

SMART Domains

Protein: ENSMUSP00000134740
Gene: ENSMUSG00000032058

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
Pfam:HEAT	129	159	5.7e-5	PFAM
Pfam:HEAT	168	198	4e-6	PFAM
Pfam:HEAT_2	251	352	6.3e-11	PFAM
Pfam:HEAT_2	365	470	3e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000175645
AA Change: Q129K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000135871
Gene: ENSMUSG00000032058
AA Change: Q129K

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
Pfam:HEAT_EZ	173	243	8e-6	PFAM
Pfam:HEAT	178	208	1.8e-6	PFAM
Pfam:HEAT	217	247	4.9e-5	PFAM
Pfam:HEAT	295	325	4.8e-6	PFAM
Pfam:HEAT_2	449	552	3.9e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000175926

SMART Domains

Protein: ENSMUSP00000134886
Gene: ENSMUSG00000032058

Domain	Start	End	E-Value	Type
SCOP:d1b3ua_	14	104	4e-15	SMART
PDB:3DW8\|D	22	104	4e-45	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000176349
AA Change: Q65K

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000135758
Gene: ENSMUSG00000032058
AA Change: Q65K

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
Pfam:HEAT	114	144	2e-6	PFAM
Pfam:HEAT_EZ	116	179	8.7e-6	PFAM
Pfam:HEAT	153	183	5.5e-5	PFAM
Pfam:HEAT	231	261	5.3e-6	PFAM
Pfam:HEAT_2	314	415	9.3e-11	PFAM
Pfam:HEAT_2	430	532	4.4e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176798
AA Change: Q129K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000135525
Gene: ENSMUSG00000032058
AA Change: Q129K

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
Pfam:HEAT	178	208	2.3e-6	PFAM
Pfam:HEAT_EZ	182	243	1e-5	PFAM
Pfam:HEAT	295	325	6e-6	PFAM
Pfam:HEAT_2	378	479	1.1e-10	PFAM
Pfam:HEAT_2	495	596	5.2e-8	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a constant regulatory subunit of protein phosphatase 2. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The constant regulatory subunit A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. This gene encodes a beta isoform of the constant regulatory subunit A. Mutations in this gene have been associated with some lung and colon cancers. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]

Allele List at MGI

All alleles(3) : Targeted(2) Gene trapped(1)

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,256,619		probably null	Het
Abca2	A	G	2: 25,447,879		probably benign	Het
Abcb11	A	T	2: 69,299,925	S262R	probably damaging	Het
Abhd12	T	A	2: 150,848,421	Q118L	probably benign	Het
Adam1a	A	T	5: 121,518,971	L753*	probably null	Het
Ahctf1	A	T	1: 179,779,652	I699N	possibly damaging	Het
Arl11	C	A	14: 61,311,038	A99E	probably damaging	Het
Atp5o	G	A	16: 91,930,401	R16W	probably damaging	Het
AW551984	T	C	9: 39,599,325	H238R	probably null	Het
Bpifb9a	C	A	2: 154,266,813		probably benign	Het
Carhsp1	A	G	16: 8,663,713		probably benign	Het
Ccdc33	T	C	9: 58,030,419	D623G	probably damaging	Het
Chd6	C	A	2: 161,026,292	R378L	possibly damaging	Het
Chn2	T	C	6: 54,300,245		probably benign	Het
Clgn	T	G	8: 83,423,136	I422S	probably damaging	Het
Col15a1	T	A	4: 47,300,606		probably null	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Cyp2c39	T	C	19: 39,568,130	I470T	probably benign	Het
Dcaf11	T	A	14: 55,564,523		probably null	Het
Dnah1	G	T	14: 31,300,967	T1071K	probably benign	Het
Dnah2	T	A	11: 69,458,123	M2513L	probably benign	Het
Dqx1	A	G	6: 83,058,910		probably benign	Het
Gm1587	T	C	14: 77,798,842	E8G	unknown	Het
Hydin	T	C	8: 110,609,966	I5125T	possibly damaging	Het
Ighv5-9	G	T	12: 113,661,943	P60Q	probably damaging	Het
Itga7	T	G	10: 128,953,782	L993R	possibly damaging	Het
Itpr3	A	G	17: 27,098,442	N857S	probably damaging	Het
Krt23	C	T	11: 99,492,664		probably benign	Het
Lrp1	T	C	10: 127,554,271	N3093S	probably benign	Het
Mms22l	T	C	4: 24,505,349	F203S	probably damaging	Het
Morn5	A	G	2: 36,057,076	D122G	probably damaging	Het
Mpp2	G	T	11: 102,063,262	L220I	probably benign	Het
Mrgpra6	A	T	7: 47,185,952	Y240*	probably null	Het
Mtmr12	T	C	15: 12,237,930	I165T	probably damaging	Het
Mylk2	C	A	2: 152,919,157	N428K	probably damaging	Het
Nfil3	A	G	13: 52,968,152	Y239H	probably damaging	Het
Notch1	A	G	2: 26,460,339	L2263P	probably damaging	Het
Olfr130	T	A	17: 38,067,267	I32N	probably damaging	Het
Olfr888	A	G	9: 38,109,129	M148V	probably benign	Het
P3h3	A	T	6: 124,853,092	Y387N	probably damaging	Het
Pdcd6ip	A	T	9: 113,680,053	Y324*	probably null	Het
Plcb2	C	A	2: 118,711,363	R922L	probably benign	Het
Pml	T	C	9: 58,247,003	T196A	probably benign	Het
Ric8a	A	G	7: 140,862,357	T507A	probably benign	Het
Sec16a	A	G	2: 26,416,632		probably null	Het
Slc46a3	G	T	5: 147,886,234	T266N	probably damaging	Het
Smg1	A	G	7: 118,212,946	S41P	possibly damaging	Het
Snrnp200	T	A	2: 127,237,483	N1837K	probably benign	Het
Sptan1	A	G	2: 30,030,324	T2318A	probably damaging	Het
St7l	C	T	3: 104,874,832	T175I	possibly damaging	Het
Tmc7	G	A	7: 118,538,211	R703C	probably damaging	Het
Urah	A	G	7: 140,836,886		probably benign	Het
Vmn1r42	A	T	6: 89,845,314	I91N	probably damaging	Het
Yy1	T	A	12: 108,814,599		probably benign	Het

Other mutations in Ppp2r1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01622:Ppp2r1b	APN	9	50878122	missense	probably damaging	0.99
IGL01623:Ppp2r1b	APN	9	50878122	missense	probably damaging	0.99
IGL02120:Ppp2r1b	APN	9	50861769	splice site	probably benign
IGL02706:Ppp2r1b	APN	9	50878834	missense	possibly damaging	0.83
IGL02801:Ppp2r1b	APN	9	50878827	missense	probably benign	0.00
IGL02943:Ppp2r1b	APN	9	50883585	missense	probably damaging	1.00
R0047:Ppp2r1b	UTSW	9	50861573	nonsense	probably null
R0047:Ppp2r1b	UTSW	9	50861573	nonsense	probably null
R0211:Ppp2r1b	UTSW	9	50861625	missense	probably benign	0.00
R0603:Ppp2r1b	UTSW	9	50861685	missense	probably damaging	1.00
R1219:Ppp2r1b	UTSW	9	50867321	splice site	probably benign
R1513:Ppp2r1b	UTSW	9	50870145	missense	probably damaging	1.00
R1545:Ppp2r1b	UTSW	9	50862425	missense	possibly damaging	0.68
R1997:Ppp2r1b	UTSW	9	50867371	missense	possibly damaging	0.71
R1998:Ppp2r1b	UTSW	9	50883585	missense	probably damaging	1.00
R2153:Ppp2r1b	UTSW	9	50866554	missense	probably damaging	1.00
R3829:Ppp2r1b	UTSW	9	50862494	missense	probably benign	0.02
R4672:Ppp2r1b	UTSW	9	50867719	missense	probably damaging	0.99
R5299:Ppp2r1b	UTSW	9	50857040	missense	probably benign	0.04
R5376:Ppp2r1b	UTSW	9	50866928	missense	possibly damaging	0.78
R5504:Ppp2r1b	UTSW	9	50858887	missense	probably damaging	1.00
R5700:Ppp2r1b	UTSW	9	50878157	missense	probably damaging	1.00
R5771:Ppp2r1b	UTSW	9	50866832	missense	probably damaging	0.98
R7547:Ppp2r1b	UTSW	9	50862462	missense	probably benign	0.06
R7626:Ppp2r1b	UTSW	9	50878176	missense	possibly damaging	0.91
R8498:Ppp2r1b	UTSW	9	50866894	nonsense	probably null
Z1088:Ppp2r1b	UTSW	9	50866911	missense	probably damaging	1.00
Z1176:Ppp2r1b	UTSW	9	50873645	frame shift	probably null

Posted On

2015-04-16