Mutagenetix > Incidental Mutation

Incidental Mutation 'R5771:Ppp2r1b'

445369

Institutional Source

Beutler Lab

Gene Symbol

Ppp2r1b

Ensembl Gene

ENSMUSG00000032058

Gene Name

protein phosphatase 2, regulatory subunit A, beta

Synonyms

2410091N08Rik

MMRRC Submission

043371-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.572) question?

Stock #

R5771 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50767946-50810625 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 50778132 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 219 (Q219L)

Ref Sequence

ENSEMBL: ENSMUSP00000135758 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034560] [ENSMUST00000114437] [ENSMUST00000174628] [ENSMUST00000175640] [ENSMUST00000175645] [ENSMUST00000175926] [ENSMUST00000176055] [ENSMUST00000176349] [ENSMUST00000176798]

AlphaFold

Q7TNP2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034560
AA Change: Q283L

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000034560
Gene: ENSMUSG00000032058
AA Change: Q283L

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: Q283L

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000110080
Gene: ENSMUSG00000032058
AA Change: Q283L

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

probably benign
Transcript: ENSMUST00000174628
AA Change: Q283L

PolyPhen 2 Score 0.245 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000133404
Gene: ENSMUSG00000032058
AA Change: Q283L

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

possibly damaging
Transcript: ENSMUST00000175640
AA Change: Q156L

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000134740
Gene: ENSMUSG00000032058
AA Change: Q156L

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: Q283L

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000135871
Gene: ENSMUSG00000032058
AA Change: Q283L

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: ENSMUST00000176055

SMART Domains

Protein: ENSMUSP00000135253
Gene: ENSMUSG00000032058

Domain	Start	End	E-Value	Type
PDB:3DW8\|D	1	51	1e-26	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000176349
AA Change: Q219L

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135758
Gene: ENSMUSG00000032058
AA Change: Q219L

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 damaging
Transcript: ENSMUST00000176798
AA Change: Q283L

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135525
Gene: ENSMUSG00000032058
AA Change: Q283L

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

Meta Mutation Damage Score

0.2956

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

95% (87/92)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,241,411 (GRCm39)	N1091K	probably damaging	Het
Adam3	C	T	8: 25,197,427 (GRCm39)	V335I	probably benign	Het
AI504432	G	A	3: 106,956,299 (GRCm39)		noncoding transcript	Het
Apcdd1	A	G	18: 63,070,027 (GRCm39)	Y98C	probably damaging	Het
Aqp9	C	T	9: 71,030,146 (GRCm39)	A214T	probably damaging	Het
Atp8b4	T	C	2: 126,220,664 (GRCm39)	D578G	probably benign	Het
Bcdin3d	T	C	15: 99,368,717 (GRCm39)	M161V	probably benign	Het
Bicral	C	T	17: 47,136,284 (GRCm39)	V309I	possibly damaging	Het
Ccdc88b	C	T	19: 6,831,203 (GRCm39)	A580T	probably benign	Het
Cdhr2	T	A	13: 54,874,508 (GRCm39)	V860E	probably damaging	Het
Clhc1	A	T	11: 29,513,854 (GRCm39)	N302Y	possibly damaging	Het
Cnnm2	T	A	19: 46,845,434 (GRCm39)		probably null	Het
Crebbp	T	C	16: 3,937,636 (GRCm39)	N709S	probably benign	Het
Ctnnal1	T	C	4: 56,826,328 (GRCm39)	S512G	probably benign	Het
Dgcr8	C	T	16: 18,090,632 (GRCm39)	V581I	probably benign	Het
Dnaaf10	A	G	11: 17,174,638 (GRCm39)	T169A	probably benign	Het
Dnah7c	G	A	1: 46,678,825 (GRCm39)	V1790I	probably benign	Het
Efl1	A	G	7: 82,341,732 (GRCm39)	K452E	probably benign	Het
Epb42	A	C	2: 120,852,301 (GRCm39)	V564G	probably damaging	Het
Etv4	G	A	11: 101,662,282 (GRCm39)	P335S	probably damaging	Het
Fbxw9	T	A	8: 85,791,201 (GRCm39)		probably null	Het
Fcrl2	A	T	3: 87,170,775 (GRCm39)	L3Q	probably damaging	Het
Frmd8	C	A	19: 5,919,478 (GRCm39)	A190S	probably benign	Het
Gcm2	C	T	13: 41,256,991 (GRCm39)	D253N	probably benign	Het
Gfm1	T	C	3: 67,342,895 (GRCm39)	V143A	probably benign	Het
Gigyf2	T	C	1: 87,374,050 (GRCm39)	M1226T	possibly damaging	Het
Gm10110	C	T	14: 90,134,675 (GRCm39)		noncoding transcript	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm20939	T	G	17: 95,181,767 (GRCm39)	C55W	possibly damaging	Het
Gm5407	T	A	16: 49,117,229 (GRCm39)		noncoding transcript	Het
Golga4	A	G	9: 118,387,351 (GRCm39)	E1491G	probably damaging	Het
Hdac11	T	A	6: 91,146,364 (GRCm39)		probably null	Het
Hs3st3b1	C	T	11: 63,780,098 (GRCm39)	S343N	probably benign	Het
Igkv12-44	G	A	6: 69,792,075 (GRCm39)	P4S	probably benign	Het
Igkv1-35	C	T	6: 69,988,231 (GRCm39)	V22I	probably benign	Het
Kcns2	A	T	15: 34,839,068 (GRCm39)	T144S	probably benign	Het
Khdc1c	T	C	1: 21,439,266 (GRCm39)	V84A	possibly damaging	Het
Kif4-ps	T	A	12: 101,115,544 (GRCm39)		noncoding transcript	Het
Lamc2	T	G	1: 153,017,340 (GRCm39)	Y549S	probably benign	Het
Lect2	T	A	13: 56,696,154 (GRCm39)	I8F	probably benign	Het
Loxl3	T	A	6: 83,012,780 (GRCm39)		probably null	Het
Lrwd1	A	T	5: 136,152,516 (GRCm39)	I545N	possibly damaging	Het
Ltbp3	T	C	19: 5,797,572 (GRCm39)	C437R	probably damaging	Het
Lypd3	T	C	7: 24,339,787 (GRCm39)	S285P	probably benign	Het
Mast2	T	A	4: 116,190,622 (GRCm39)	H83L	possibly damaging	Het
Mfsd4b4	A	G	10: 39,768,635 (GRCm39)	F153L	probably benign	Het
Ms4a4b	T	A	19: 11,438,606 (GRCm39)		probably null	Het
Nbr1	T	A	11: 101,450,364 (GRCm39)	L41Q	probably damaging	Het
Nlrp4a	G	A	7: 26,152,814 (GRCm39)	C628Y	probably damaging	Het
Nup160	C	T	2: 90,553,740 (GRCm39)	R1157C	probably damaging	Het
Obscn	T	A	11: 58,891,533 (GRCm39)	I7000F	unknown	Het
Or4k41	T	A	2: 111,280,406 (GRCm39)		probably null	Het
Or4p21	A	T	2: 88,276,652 (GRCm39)	V210D	possibly damaging	Het
Or5ac15	TGAAGAAGAA	TGAAGAA	16: 58,940,335 (GRCm39)		probably benign	Het
Or5b122	T	G	19: 13,562,872 (GRCm39)	V25G	probably damaging	Het
Or8g2	A	T	9: 39,821,546 (GRCm39)	Y149F	probably damaging	Het
Pdilt	T	C	7: 119,094,217 (GRCm39)	K345E	probably damaging	Het
Ppp1r12b	A	T	1: 134,701,162 (GRCm39)		probably null	Het
Prim2	A	G	1: 33,493,232 (GRCm39)	S485P	unknown	Het
Prkdc	A	G	16: 15,482,097 (GRCm39)	D380G	probably damaging	Het
Psmg1	A	G	16: 95,783,369 (GRCm39)	L243S	probably damaging	Het
Rapgef5	T	A	12: 117,685,061 (GRCm39)	V270D	probably benign	Het
Rnft1	C	T	11: 86,384,032 (GRCm39)	R311*	probably null	Het
Scaper	T	A	9: 55,724,075 (GRCm39)	I628L	probably damaging	Het
Serpina3j	C	A	12: 104,281,185 (GRCm39)	H119Q	possibly damaging	Het
Slamf6	G	A	1: 171,745,341 (GRCm39)	V23I	probably damaging	Het
Slc12a5	T	A	2: 164,815,688 (GRCm39)	M45K	possibly damaging	Het
Slc25a11	A	C	11: 70,537,016 (GRCm39)	V13G	probably damaging	Het
Slc7a14	T	A	3: 31,292,856 (GRCm39)	Y143F	probably damaging	Het
Spryd3	A	G	15: 102,025,342 (GRCm39)		probably benign	Het
Stard13	C	A	5: 151,113,476 (GRCm39)	L28F	probably damaging	Het
Susd2	C	T	10: 75,473,853 (GRCm39)	A581T	probably damaging	Het
Taf2	A	G	15: 54,923,335 (GRCm39)	V314A	probably benign	Het
Tas2r106	T	C	6: 131,655,086 (GRCm39)	N255S	possibly damaging	Het
Tbxa2r	T	A	10: 81,168,775 (GRCm39)	W155R	probably damaging	Het
Tcf3	A	G	10: 80,257,450 (GRCm39)		probably benign	Het
Ticam1	TCACACA	TCACA	17: 56,577,629 (GRCm39)		probably null	Het
Vmn2r55	T	C	7: 12,404,959 (GRCm39)	D148G	probably damaging	Het
Vmn2r77	A	G	7: 86,461,235 (GRCm39)	N854D	probably benign	Het
Vstm4	A	T	14: 32,626,526 (GRCm39)	H64L	probably benign	Het
Wnk2	T	C	13: 49,256,276 (GRCm39)	T282A	probably damaging	Het
Zscan4c	A	T	7: 10,743,574 (GRCm39)	D391V	probably benign	Het

Other mutations in Ppp2r1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01622:Ppp2r1b	APN	9	50,789,422 (GRCm39)	missense	probably damaging	0.99
IGL01623:Ppp2r1b	APN	9	50,789,422 (GRCm39)	missense	probably damaging	0.99
IGL02120:Ppp2r1b	APN	9	50,773,069 (GRCm39)	splice site	probably benign
IGL02158:Ppp2r1b	APN	9	50,772,909 (GRCm39)	missense	probably benign	0.02
IGL02706:Ppp2r1b	APN	9	50,790,134 (GRCm39)	missense	possibly damaging	0.83
IGL02801:Ppp2r1b	APN	9	50,790,127 (GRCm39)	missense	probably benign	0.00
IGL02943:Ppp2r1b	APN	9	50,794,885 (GRCm39)	missense	probably damaging	1.00
R0047:Ppp2r1b	UTSW	9	50,772,873 (GRCm39)	nonsense	probably null
R0047:Ppp2r1b	UTSW	9	50,772,873 (GRCm39)	nonsense	probably null
R0211:Ppp2r1b	UTSW	9	50,772,925 (GRCm39)	missense	probably benign	0.00
R0603:Ppp2r1b	UTSW	9	50,772,985 (GRCm39)	missense	probably damaging	1.00
R1219:Ppp2r1b	UTSW	9	50,778,621 (GRCm39)	splice site	probably benign
R1513:Ppp2r1b	UTSW	9	50,781,445 (GRCm39)	missense	probably damaging	1.00
R1545:Ppp2r1b	UTSW	9	50,773,725 (GRCm39)	missense	possibly damaging	0.68
R1997:Ppp2r1b	UTSW	9	50,778,671 (GRCm39)	missense	possibly damaging	0.71
R1998:Ppp2r1b	UTSW	9	50,794,885 (GRCm39)	missense	probably damaging	1.00
R2153:Ppp2r1b	UTSW	9	50,777,854 (GRCm39)	missense	probably damaging	1.00
R3829:Ppp2r1b	UTSW	9	50,773,794 (GRCm39)	missense	probably benign	0.02
R4672:Ppp2r1b	UTSW	9	50,779,019 (GRCm39)	missense	probably damaging	0.99
R5299:Ppp2r1b	UTSW	9	50,768,340 (GRCm39)	missense	probably benign	0.04
R5376:Ppp2r1b	UTSW	9	50,778,228 (GRCm39)	missense	possibly damaging	0.78
R5504:Ppp2r1b	UTSW	9	50,770,187 (GRCm39)	missense	probably damaging	1.00
R5700:Ppp2r1b	UTSW	9	50,789,457 (GRCm39)	missense	probably damaging	1.00
R7547:Ppp2r1b	UTSW	9	50,773,762 (GRCm39)	missense	probably benign	0.06
R7626:Ppp2r1b	UTSW	9	50,789,476 (GRCm39)	missense	possibly damaging	0.91
R8498:Ppp2r1b	UTSW	9	50,778,194 (GRCm39)	nonsense	probably null
R9096:Ppp2r1b	UTSW	9	50,777,856 (GRCm39)	missense	probably benign	0.03
R9201:Ppp2r1b	UTSW	9	50,789,447 (GRCm39)	missense	probably benign	0.02
Z1088:Ppp2r1b	UTSW	9	50,778,211 (GRCm39)	missense	probably damaging	1.00
Z1176:Ppp2r1b	UTSW	9	50,784,945 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TGTCGGACACAGCTTACAAATC -3'
(R):5'- ACAAATGCATCAGCGTGGG -3'

Sequencing Primer
(F):5'- CAGCTTACAAATCCTACTGAGTGG -3'
(R):5'- AAATGCTGCTGCGTGGACTC -3'

Posted On

2016-11-21