Incidental Mutation 'IGL02158:Ppp2r1b'
ID282315
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp2r1b
Ensembl Gene ENSMUSG00000032058
Gene Nameprotein phosphatase 2, regulatory subunit A, beta
Synonyms2410091N08Rik
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
Chromosome9
Chromosomal Location50845301-50894229 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 50861609 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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 On2015-04-16