Mutagenetix > Incidental Mutation

Incidental Mutation 'R0211:Ppp2r1b'

35537

Institutional Source

Beutler Lab

Gene Symbol

Ppp2r1b

Ensembl Gene

ENSMUSG00000032058

Gene Name

protein phosphatase 2, regulatory subunit A, beta

Synonyms

2410091N08Rik

MMRRC Submission

038462-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.567) question?

Stock #

R0211 (G1)

Quality Score

224

Status

Not validated

Chromosome

Chromosomal Location

50767946-50810625 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50772925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 70 (V70A)

Ref Sequence

ENSEMBL: ENSMUSP00000135758 (fasta)

Gene Model

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

AlphaFold

Q7TNP2

Predicted Effect

probably benign
Transcript: ENSMUST00000034560
AA Change: V134A

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

SMART Domains

Protein: ENSMUSP00000034560
Gene: ENSMUSG00000032058
AA Change: V134A

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: V134A

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

SMART Domains

Protein: ENSMUSP00000110080
Gene: ENSMUSG00000032058
AA Change: V134A

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: V134A

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

SMART Domains

Protein: ENSMUSP00000133404
Gene: ENSMUSG00000032058
AA Change: V134A

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: V134A

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

SMART Domains

Protein: ENSMUSP00000135871
Gene: ENSMUSG00000032058
AA Change: V134A

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: ENSMUST00000176798
AA Change: V134A

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

SMART Domains

Protein: ENSMUSP00000135525
Gene: ENSMUSG00000032058
AA Change: V134A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000176349
AA Change: V70A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000135758
Gene: ENSMUSG00000032058
AA Change: V70A

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

Coding Region Coverage

1x: 98.2%
3x: 97.0%
10x: 94.6%
20x: 89.0%

Validation Efficiency

100% (1/1)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,262,870 (GRCm39)	L1401P	possibly damaging	Het
4930503B20Rik	C	T	3: 146,356,251 (GRCm39)	R219H	probably benign	Het
Abcc9	T	A	6: 142,634,710 (GRCm39)	I185F	probably benign	Het
Adgrf1	T	C	17: 43,607,581 (GRCm39)	L100P	probably damaging	Het
Akt1	T	C	12: 112,621,576 (GRCm39)	T407A	probably damaging	Het
Alk	C	T	17: 72,910,511 (GRCm39)	R65H	probably damaging	Het
Aplp2	T	C	9: 31,069,086 (GRCm39)	E525G	probably damaging	Het
Arhgef12	G	A	9: 42,883,300 (GRCm39)	R1411C	probably damaging	Het
Arnt	T	A	3: 95,383,460 (GRCm39)	M242K	probably damaging	Het
Atad5	T	G	11: 79,986,473 (GRCm39)	V520G	probably benign	Het
Avpr1a	T	A	10: 122,285,374 (GRCm39)	M222K	possibly damaging	Het
Cbr2	T	A	11: 120,621,614 (GRCm39)	I88L	probably benign	Het
Cc2d2a	T	A	5: 43,845,608 (GRCm39)		probably null	Het
Ccdc51	T	C	9: 108,918,441 (GRCm39)	M10T	probably benign	Het
Cntnap5b	T	A	1: 100,406,099 (GRCm39)	D1136E	possibly damaging	Het
Coil	T	A	11: 88,872,979 (GRCm39)	S447T	probably damaging	Het
Cryba1	T	A	11: 77,609,693 (GRCm39)	Y179F	probably damaging	Het
Dcaf4	T	A	12: 83,582,735 (GRCm39)	F277I	probably damaging	Het
Ddost	G	A	4: 138,036,913 (GRCm39)	V159M	probably damaging	Het
Dnaaf4	A	T	9: 72,868,649 (GRCm39)	R127S	possibly damaging	Het
Dnajb6	T	C	5: 29,990,077 (GRCm39)		probably benign	Het
Dnase2a	A	G	8: 85,635,417 (GRCm39)		probably benign	Het
Dscam	T	C	16: 96,517,279 (GRCm39)	I877V	possibly damaging	Het
Efcc1	A	T	6: 87,726,136 (GRCm39)	T312S	probably benign	Het
Elp1	T	A	4: 56,795,545 (GRCm39)	I143F	probably damaging	Het
Ermard	A	T	17: 15,242,205 (GRCm39)	Q127L	probably damaging	Het
F2	T	C	2: 91,460,503 (GRCm39)	E329G	probably damaging	Het
Foxc2	T	A	8: 121,843,355 (GRCm39)	M1K	probably null	Het
Fuz	T	A	7: 44,548,446 (GRCm39)		probably null	Het
Ggnbp2	G	A	11: 84,731,139 (GRCm39)	T325M	probably damaging	Het
Gm6408	T	A	5: 146,419,870 (GRCm39)	F115I	probably benign	Het
Gp6	C	T	7: 4,376,208 (GRCm39)		probably null	Het
Grin2a	A	G	16: 9,397,037 (GRCm39)	S1017P	possibly damaging	Het
H2-T5	T	C	17: 36,478,899 (GRCm39)	T117A	probably damaging	Het
Hmmr	A	T	11: 40,605,635 (GRCm39)	M318K	probably damaging	Het
Ifi205	T	C	1: 173,855,994 (GRCm39)	E12G	probably benign	Het
Ift74	C	T	4: 94,567,492 (GRCm39)	T395I	probably benign	Het
Irf8	A	T	8: 121,466,714 (GRCm39)	D53V	probably damaging	Het
Itgad	A	G	7: 127,803,813 (GRCm39)	Y69C	probably damaging	Het
Itpr2	C	A	6: 146,096,111 (GRCm39)	R2084L	probably benign	Het
Krt4	C	A	15: 101,831,217 (GRCm39)	S228I	possibly damaging	Het
Lpin3	A	T	2: 160,740,601 (GRCm39)	D382V	probably damaging	Het
Ltbp3	T	C	19: 5,802,171 (GRCm39)		probably null	Het
Map4k3	C	T	17: 80,952,270 (GRCm39)	A179T	probably damaging	Het
Nck1	A	T	9: 100,379,820 (GRCm39)	W144R	probably damaging	Het
Ndufb9	A	T	15: 58,811,131 (GRCm39)	Q139L	possibly damaging	Het
Ngfr	T	G	11: 95,462,738 (GRCm39)	E300A	probably damaging	Het
Nin	T	G	12: 70,061,649 (GRCm39)	T2072P	probably damaging	Het
Nop2	T	G	6: 125,118,307 (GRCm39)	L529R	probably damaging	Het
Nrm	T	A	17: 36,175,503 (GRCm39)	L203Q	probably damaging	Het
Nynrin	T	C	14: 56,109,255 (GRCm39)	F1454S	probably benign	Het
Or10ak7	T	A	4: 118,791,467 (GRCm39)	M191L	probably benign	Het
Or5b101	T	C	19: 13,005,646 (GRCm39)	T16A	possibly damaging	Het
Or8j3c	A	C	2: 86,253,451 (GRCm39)	S190A	probably damaging	Het
Os9	A	G	10: 126,956,905 (GRCm39)	V27A	probably damaging	Het
Osbpl9	T	G	4: 108,930,321 (GRCm39)	T332P	probably damaging	Het
Pcdhb10	A	T	18: 37,547,059 (GRCm39)	M712L	probably benign	Het
Pcx	C	T	19: 4,670,227 (GRCm39)	A935V	probably damaging	Het
Pdzd7	A	G	19: 45,022,106 (GRCm39)	V514A	possibly damaging	Het
Plin4	C	T	17: 56,409,242 (GRCm39)	G1326D	probably damaging	Het
Plxnb1	T	A	9: 108,932,731 (GRCm39)	Y568*	probably null	Het
Pmfbp1	T	A	8: 110,268,372 (GRCm39)	V973D	probably benign	Het
Prkar2b	C	A	12: 32,022,183 (GRCm39)	V201L	probably benign	Het
Rgr	T	G	14: 36,768,925 (GRCm39)	T37P	probably damaging	Het
Ripk3	A	T	14: 56,025,375 (GRCm39)	L63Q	probably damaging	Het
Rpusd2	A	G	2: 118,868,893 (GRCm39)	S439G	probably benign	Het
Serac1	T	A	17: 6,100,335 (GRCm39)	R438S	possibly damaging	Het
Slc19a1	T	A	10: 76,874,300 (GRCm39)	S24T	possibly damaging	Het
Slc6a21	A	C	7: 44,937,667 (GRCm39)	T653P	possibly damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spdef	C	T	17: 27,933,894 (GRCm39)	R309H	probably damaging	Het
Srp68	A	T	11: 116,156,377 (GRCm39)	Y84N	probably damaging	Het
Syne2	A	T	12: 76,144,731 (GRCm39)	Q6299L	probably damaging	Het
Tmem63b	T	A	17: 45,972,839 (GRCm39)	M652L	probably benign	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Tnk1	A	G	11: 69,746,007 (GRCm39)	V306A	probably damaging	Het
Tnnc2	T	A	2: 164,619,404 (GRCm39)	I147F	probably damaging	Het
Tnni3k	C	T	3: 154,760,981 (GRCm39)		probably benign	Het
Togaram2	T	A	17: 72,036,243 (GRCm39)	V911D	probably damaging	Het
Tyw3	T	C	3: 154,293,132 (GRCm39)	N181S	probably damaging	Het
Unc79	T	A	12: 103,039,051 (GRCm39)	S682T	probably benign	Het
Vps13d	A	G	4: 144,841,348 (GRCm39)	L2634S	probably benign	Het
Wasl	G	T	6: 24,633,892 (GRCm39)	A124E	probably damaging	Het
Zfp287	T	C	11: 62,605,743 (GRCm39)	H388R	probably damaging	Het
Zfp335	T	C	2: 164,749,612 (GRCm39)	T262A	probably damaging	Het
Zfp457	C	G	13: 67,441,211 (GRCm39)	G359R	probably benign	Het
Zfp536	T	A	7: 37,267,874 (GRCm39)	E514V	probably damaging	Het
Zfp872	T	A	9: 22,111,469 (GRCm39)	I316N	probably damaging	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
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
R5771:Ppp2r1b	UTSW	9	50,778,132 (GRCm39)	missense	probably damaging	0.98
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'- TGGGAATTGCCATCTGGGACATGC -3'
(R):5'- TGTGAGTCCCCAGTCATCCCAAAC -3'

Sequencing Primer
(F):5'- TCTACAGAAGTCGTGTCTTCAG -3'
(R):5'- CACTAGAAACTACTGTCTTACTGTCG -3'

Posted On

2013-05-09