Mutagenetix > Incidental Mutations

Incidental Mutation 'R5700:Ppp2r1b'

450852

Institutional Source

Beutler Lab

Gene Symbol

Ppp2r1b

Ensembl Gene

ENSMUSG00000032058

Gene Name

protein phosphatase 2, regulatory subunit A, beta

Synonyms

2410091N08Rik

MMRRC Submission

043328-MU

Accession Numbers

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

Is this an essential gene?

Possibly essential (E-score: 0.579) question?

Stock #

R5700 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50845301-50894229 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50878157 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 443 (Y443H)

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

probably damaging
Transcript: ENSMUST00000034560
AA Change: Y507H

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000034560
Gene: ENSMUSG00000032058
AA Change: Y507H

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 damaging
Transcript: ENSMUST00000114437
AA Change: Y507H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110080
Gene: ENSMUSG00000032058
AA Change: Y507H

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 damaging
Transcript: ENSMUST00000174628
AA Change: Y507H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133404
Gene: ENSMUSG00000032058
AA Change: Y507H

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: Y380H

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134740
Gene: ENSMUSG00000032058
AA Change: Y380H

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 damaging
Transcript: ENSMUST00000175645
AA Change: Y462H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135871
Gene: ENSMUSG00000032058
AA Change: Y462H

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: Y443H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135758
Gene: ENSMUSG00000032058
AA Change: Y443H

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

noncoding transcript
Transcript: ENSMUST00000176414

Predicted Effect

probably damaging
Transcript: ENSMUST00000176798
AA Change: Y507H

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135525
Gene: ENSMUSG00000032058
AA Change: Y507H

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

noncoding transcript
Transcript: ENSMUST00000177454

Meta Mutation Damage Score

0.5589

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

98% (50/51)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	T	19: 43,798,194	Q155L	probably benign	Het
Acadvl	A	C	11: 70,013,203	Y242D	probably damaging	Het
Armc8	A	G	9: 99,496,149		probably null	Het
Barx2	A	T	9: 31,858,765	F156I	probably damaging	Het
Best1	T	C	19: 9,997,199		probably benign	Het
Btbd8	T	C	5: 107,503,648	S136P	possibly damaging	Het
Btla	T	A	16: 45,250,573	Y298*	probably null	Het
Casr	T	A	16: 36,509,617	I452F	probably damaging	Het
Ccser1	C	A	6: 61,311,276	P141H	probably benign	Het
Cr2	A	G	1: 195,159,757	V296A	probably damaging	Het
Csl	T	A	10: 99,759,015	I63F	probably damaging	Het
Dbt	G	A	3: 116,520,303	V40M	probably damaging	Het
Fam53b	A	T	7: 132,760,020	L93Q	probably damaging	Het
Fdps	T	C	3: 89,095,649	I105V	probably damaging	Het
Gm4884	A	G	7: 41,043,219	D204G	probably benign	Het
Gm5592	A	G	7: 41,158,579		probably benign	Het
Gm7367	A	T	7: 60,155,762		noncoding transcript	Het
Grid2	T	A	6: 64,094,432	V413D	possibly damaging	Het
Hgf	C	T	5: 16,610,124	P471L	probably damaging	Het
Hoxc9	T	C	15: 102,981,881	Y77H	possibly damaging	Het
Hs6st3	C	T	14: 119,138,787	R125*	probably null	Het
Kdm4b	T	C	17: 56,351,700	I15T	possibly damaging	Het
Klhl1	T	C	14: 96,518,040	N93S	probably benign	Het
Klhl6	G	A	16: 19,957,218	Q197*	probably null	Het
Medag	T	C	5: 149,422,217	V7A	probably benign	Het
Mptx2	G	A	1: 173,274,847	L92F	probably benign	Het
Nckap5	C	T	1: 125,976,925		probably null	Het
Obscn	T	C	11: 59,133,194	K550R	probably benign	Het
Olfr1369-ps1	T	A	13: 21,116,001	V103E	probably damaging	Het
Olfr193	T	A	16: 59,109,993	I206F	probably damaging	Het
Olfr716	A	G	7: 107,147,541	N75S	probably benign	Het
Olfr8	T	C	10: 78,955,484	I93T	probably damaging	Het
Parp6	T	C	9: 59,624,727	S101P	probably damaging	Het
Plcd3	T	C	11: 103,073,763	N594S	probably benign	Het
Plscr5	A	T	9: 92,205,511	K178*	probably null	Het
Pqlc2	C	T	4: 139,300,254	S259N	probably damaging	Het
Prnd	G	A	2: 131,953,343	V128I	probably benign	Het
Rftn1	G	T	17: 50,002,669	P156Q	probably damaging	Het
Scmh1	T	C	4: 120,516,946	V445A	probably benign	Het
Serpinb6c	A	T	13: 33,899,308	M41K	probably damaging	Het
Spns1	A	G	7: 126,372,469	V303A	possibly damaging	Het
Ston1	T	A	17: 88,644,339	S639R	probably damaging	Het
Thbs4	T	C	13: 92,776,953	D153G	probably benign	Het
Timm44	T	C	8: 4,274,171	Y36C	probably damaging	Het
Trim34b	G	T	7: 104,336,411	V418F	probably damaging	Het
Vmn1r72	C	T	7: 11,670,423	V33M	probably damaging	Het
Zcchc7	T	C	4: 44,931,084	V412A	probably benign	Het
Zfand1	T	A	3: 10,341,019	N210I	probably damaging	Het
Zfhx3	A	G	8: 108,933,867	H1251R	probably damaging	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
IGL02158:Ppp2r1b	APN	9	50861609	missense	probably benign	0.02
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
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
R9096:Ppp2r1b	UTSW	9	50866556	missense	probably benign	0.03
R9201:Ppp2r1b	UTSW	9	50878147	missense	probably benign	0.02
Z1088:Ppp2r1b	UTSW	9	50866911	missense	probably damaging	1.00
Z1176:Ppp2r1b	UTSW	9	50873645	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TACAGTAGGCTTGCCCAGAG -3'
(R):5'- TGACACTGAGCCATCTCTCC -3'

Sequencing Primer
(F):5'- AGGCTTGCCCAGAGTTTGTTTTG -3'
(R):5'- TCTCTCCAGCTCCAAAATTTTAAATC -3'

Posted On

2017-01-03