Mutagenetix > Incidental Mutation

Incidental Mutation 'R1998:Ppp2r1b'

224577

Institutional Source

Beutler Lab

Gene Symbol

Ppp2r1b

Ensembl Gene

ENSMUSG00000032058

Gene Name

protein phosphatase 2, regulatory subunit A, beta

Synonyms

2410091N08Rik

MMRRC Submission

040008-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.572) question?

Stock #

R1998 (G1)

Quality Score

132

Status

Not validated

Chromosome

Chromosomal Location

50767946-50810625 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50794885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 570 (D570G)

Ref Sequence

ENSEMBL: ENSMUSP00000135758 (fasta)

Gene Model

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

AlphaFold

Q7TNP2

Predicted Effect

probably benign
Transcript: ENSMUST00000034560
AA Change: D634G

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000034560
Gene: ENSMUSG00000032058
AA Change: D634G

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

SMART Domains

Protein: ENSMUSP00000110080
Gene: ENSMUSG00000032058

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: ENSMUST00000158083

Predicted Effect

probably benign
Transcript: ENSMUST00000174628
AA Change: D634G

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

SMART Domains

Protein: ENSMUSP00000133404
Gene: ENSMUSG00000032058
AA Change: D634G

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

SMART Domains

Protein: ENSMUSP00000135871
Gene: ENSMUSG00000032058

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 damaging
Transcript: ENSMUST00000176349
AA Change: D570G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135758
Gene: ENSMUSG00000032058
AA Change: D570G

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: D634G

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

SMART Domains

Protein: ENSMUSP00000135525
Gene: ENSMUSG00000032058
AA Change: D634G

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: ENSMUST00000176414

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	T	G	5: 88,118,553 (GRCm39)	N12K	probably damaging	Het
2700049A03Rik	T	A	12: 71,235,393 (GRCm39)	S1114R	possibly damaging	Het
Acot1	T	A	12: 84,056,527 (GRCm39)	W82R	probably damaging	Het
Adam22	T	C	5: 8,379,995 (GRCm39)	D101G	probably damaging	Het
Adcy9	T	C	16: 4,115,276 (GRCm39)	D705G	probably benign	Het
Adgrg3	T	G	8: 95,763,296 (GRCm39)	L244V	probably damaging	Het
Amh	AGCGCCTTGG	AG	10: 80,641,419 (GRCm39)		probably null	Het
Brinp1	C	T	4: 68,680,790 (GRCm39)	G580E	probably damaging	Het
Brwd1	G	A	16: 95,822,488 (GRCm39)	T1239M	probably damaging	Het
Camk1d	A	T	2: 5,366,836 (GRCm39)	Y126*	probably null	Het
Camta1	T	C	4: 151,162,337 (GRCm39)	Y1560C	probably damaging	Het
Cbfa2t2	T	A	2: 154,346,709 (GRCm39)	L139M	probably damaging	Het
Cd226	T	C	18: 89,225,343 (GRCm39)	V80A	probably damaging	Het
Dgka	C	T	10: 128,565,808 (GRCm39)	V367I	probably benign	Het
Dnajb13	A	T	7: 100,153,817 (GRCm39)	I206N	probably benign	Het
Dst	A	T	1: 34,295,428 (GRCm39)	Q5693L	probably damaging	Het
Ear6	T	A	14: 52,091,672 (GRCm39)	I73N	probably benign	Het
Egr1	A	G	18: 34,994,587 (GRCm39)	I16V	probably benign	Het
Eif2s1	T	A	12: 78,913,508 (GRCm39)	C70S	possibly damaging	Het
Epcam	T	C	17: 87,947,902 (GRCm39)	V124A	probably damaging	Het
Erbb2	T	A	11: 98,319,779 (GRCm39)	C624S	probably damaging	Het
Fam135b	T	A	15: 71,324,253 (GRCm39)	H1238L	probably damaging	Het
Fam90a1a	A	G	8: 22,453,713 (GRCm39)	D356G	probably benign	Het
Fbrsl1	G	A	5: 110,524,305 (GRCm39)	S127L	probably benign	Het
Fndc3c1	C	T	X: 105,464,311 (GRCm39)	E1276K	probably benign	Het
Gbe1	A	T	16: 70,365,929 (GRCm39)	N702I	probably damaging	Het
Gm10643	A	T	8: 84,791,053 (GRCm39)	C20*	probably null	Het
Gpr156	A	G	16: 37,818,270 (GRCm39)	N322S	possibly damaging	Het
Gsdma	T	A	11: 98,564,520 (GRCm39)	I333N	probably damaging	Het
Gstm1	A	G	3: 107,922,127 (GRCm39)	F170S	probably damaging	Het
Hgsnat	C	T	8: 26,435,280 (GRCm39)	W618*	probably null	Het
Htr5a	G	A	5: 28,055,887 (GRCm39)	V293M	possibly damaging	Het
Hyal4	A	G	6: 24,756,310 (GRCm39)	E176G	probably benign	Het
Iqca1l	G	A	5: 24,750,004 (GRCm39)	R680C	probably benign	Het
Jag1	T	C	2: 136,932,858 (GRCm39)	D546G	probably damaging	Het
Kbtbd3	A	G	9: 4,330,760 (GRCm39)	E378G	probably benign	Het
Lipo4	A	G	19: 33,491,701 (GRCm39)	V94A	probably damaging	Het
Magea10	A	T	X: 71,426,379 (GRCm39)	I205K	probably benign	Het
Manea	A	G	4: 26,327,871 (GRCm39)	L390P	probably damaging	Het
Mars1	T	A	10: 127,136,347 (GRCm39)	K493*	probably null	Het
Mars1	T	C	10: 127,138,740 (GRCm39)	I439V	probably benign	Het
Mboat2	A	G	12: 24,996,672 (GRCm39)	D225G	possibly damaging	Het
Mcmbp	T	A	7: 128,310,887 (GRCm39)	E350V	probably damaging	Het
Mki67	A	G	7: 135,307,499 (GRCm39)	M459T	probably benign	Het
Mlf1	G	A	3: 67,302,624 (GRCm39)	G150R	probably damaging	Het
Mtmr14	A	G	6: 113,254,885 (GRCm39)	D294G	probably null	Het
Nlrp4e	A	C	7: 23,020,671 (GRCm39)	Y386S	probably benign	Het
Nomo1	A	G	7: 45,683,368 (GRCm39)	D38G	possibly damaging	Het
Nudcd2	T	C	11: 40,624,844 (GRCm39)	W18R	probably damaging	Het
Or11g26	T	A	14: 50,752,813 (GRCm39)	C51S	probably benign	Het
Or3a1b	A	G	11: 74,012,406 (GRCm39)	Y97C	probably benign	Het
Or52e4	G	T	7: 104,706,112 (GRCm39)	V220L	probably benign	Het
Or5d16	G	A	2: 87,773,490 (GRCm39)	L161F	probably benign	Het
Or5w16	T	C	2: 87,577,316 (GRCm39)	Y259H	probably damaging	Het
Pcnx2	A	T	8: 126,613,882 (GRCm39)	V523D	probably damaging	Het
Pkd1	T	C	17: 24,791,988 (GRCm39)	V1225A	probably damaging	Het
Plekhh2	T	A	17: 84,914,305 (GRCm39)	L1236Q	possibly damaging	Het
Prrc2c	T	A	1: 162,532,487 (GRCm39)		probably benign	Het
Rai14	C	T	15: 10,595,067 (GRCm39)		probably null	Het
Rap1gap2	A	G	11: 74,286,659 (GRCm39)	L547P	probably benign	Het
Rims3	A	T	4: 120,748,555 (GRCm39)	M259L	probably benign	Het
Rsbn1l	G	A	5: 21,107,368 (GRCm39)	H549Y	probably damaging	Het
Sart3	A	C	5: 113,885,982 (GRCm39)		probably null	Het
Scn7a	C	A	2: 66,513,613 (GRCm39)	G1156C	probably damaging	Het
Sh3rf2	T	A	18: 42,274,148 (GRCm39)	V406D	probably damaging	Het
Slitrk6	T	C	14: 110,989,255 (GRCm39)	I151V	probably damaging	Het
Smarca2	A	T	19: 26,608,493 (GRCm39)	Q260L	probably benign	Het
Smco1	A	G	16: 32,092,658 (GRCm39)	R110G	probably damaging	Het
Spef2	T	A	15: 9,668,989 (GRCm39)		probably null	Het
Stab1	T	A	14: 30,884,110 (GRCm39)	K219*	probably null	Het
Sulf1	G	T	1: 12,929,058 (GRCm39)	E869*	probably null	Het
Susd1	T	C	4: 59,349,925 (GRCm39)	I504V	probably benign	Het
Szt2	A	G	4: 118,232,924 (GRCm39)		probably null	Het
Tas1r3	A	T	4: 155,947,377 (GRCm39)	C103S	probably damaging	Het
Thg1l	C	A	11: 45,841,030 (GRCm39)	W243L	possibly damaging	Het
Tlr4	A	T	4: 66,758,707 (GRCm39)	D500V	probably damaging	Het
Tmem72	A	G	6: 116,693,525 (GRCm39)	V5A	probably benign	Het
Tns4	T	G	11: 98,976,529 (GRCm39)	M131L	probably benign	Het
Trim66	C	T	7: 109,083,784 (GRCm39)		probably null	Het
Ttll6	T	A	11: 96,030,601 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,800,047 (GRCm39)	I387N	probably damaging	Het
Ubqln5	T	A	7: 103,777,948 (GRCm39)	Q292L	probably damaging	Het
Vmn1r74	G	T	7: 11,581,302 (GRCm39)	V201F	probably damaging	Het
Vmn2r28	G	T	7: 5,491,313 (GRCm39)	D311E	possibly damaging	Het
Vtn	T	A	11: 78,390,542 (GRCm39)	V67E	probably damaging	Het
Xirp2	T	A	2: 67,339,393 (GRCm39)	F545I	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
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
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'- TGGCTTTCTCTGCACAGCTG -3'
(R):5'- CAATACACTTCTCTAGAGCCAGG -3'

Sequencing Primer
(F):5'- TGGCCCATCAGAGTTGCTAG -3'
(R):5'- TCTAGAGCCAGGTATCTCGC -3'

Posted On

2014-08-25