Incidental Mutation 'IGL02201:Ptpa'
ID 284183
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptpa
Ensembl Gene ENSMUSG00000039515
Gene Name protein phosphatase 2 protein activator
Synonyms Ppp2r4, 2610042B21Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.957) question?
Stock # IGL02201
Quality Score
Status
Chromosome 2
Chromosomal Location 30416039-30447806 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 30446377 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 80 (C80S)
Ref Sequence ENSEMBL: ENSMUSP00000109231 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042055] [ENSMUST00000113601] [ENSMUST00000113603] [ENSMUST00000131476] [ENSMUST00000136009]
AlphaFold P58389
Predicted Effect probably benign
Transcript: ENSMUST00000042055
AA Change: C299S

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000046837
Gene: ENSMUSG00000039515
AA Change: C299S

DomainStartEndE-ValueType
low complexity region 8 20 N/A INTRINSIC
Pfam:PTPA 26 319 1.5e-126 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000113601
AA Change: C80S

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109231
Gene: ENSMUSG00000039515
AA Change: C80S

DomainStartEndE-ValueType
low complexity region 8 20 N/A INTRINSIC
Pfam:PTPA 38 104 5.7e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113603
AA Change: C257S

PolyPhen 2 Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000109233
Gene: ENSMUSG00000039515
AA Change: C257S

DomainStartEndE-ValueType
low complexity region 8 20 N/A INTRINSIC
Pfam:PTPA 64 280 5.7e-90 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125561
SMART Domains Protein: ENSMUSP00000114290
Gene: ENSMUSG00000039515

DomainStartEndE-ValueType
Pfam:PTPA 1 125 6.1e-57 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125743
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130741
Predicted Effect probably benign
Transcript: ENSMUST00000131476
AA Change: C37S

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000116268
Gene: ENSMUSG00000039515
AA Change: C37S

DomainStartEndE-ValueType
Pfam:PTPA 1 61 8.3e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135105
Predicted Effect probably benign
Transcript: ENSMUST00000136009
AA Change: C37S

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000114985
Gene: ENSMUSG00000039515
AA Change: C37S

DomainStartEndE-ValueType
Pfam:PTPA 1 61 8.3e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137741
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Protein phosphatase 2A is one of the four major Ser/Thr phosphatases and is implicated in the negative control of cell growth and division. Protein phosphatase 2A holoenzymes are heterotrimeric proteins composed of a structural subunit A, a catalytic subunit C, and a regulatory subunit B. The regulatory subunit is encoded by a diverse set of genes that have been grouped into the B/PR55, B'/PR61, and B''/PR72 families. These different regulatory subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product of this gene belongs to the B' family. This gene encodes a specific phosphotyrosyl phosphatase activator of the dimeric form of protein phosphatase 2A. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl3 G A 1: 78,699,153 G484R probably damaging Het
Adgrb3 A G 1: 25,420,550 probably benign Het
Akr1c14 A G 13: 4,081,022 D238G probably damaging Het
Ccdc88b T A 19: 6,846,631 D1418V probably damaging Het
Cnnm4 A T 1: 36,472,750 K353M probably damaging Het
Col6a6 A G 9: 105,780,995 F673L probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dyrk1a A G 16: 94,692,149 E747G probably benign Het
Eml5 T A 12: 98,794,424 probably benign Het
Ercc6l2 A G 13: 63,852,969 N516D probably benign Het
Fbxl17 A G 17: 63,499,029 L330P probably damaging Het
Fgr A T 4: 132,994,924 Y168F probably damaging Het
Frem2 T G 3: 53,519,640 K2962N probably benign Het
Hdac4 G T 1: 91,987,660 probably null Het
Il1r1 A T 1: 40,313,268 N533Y probably damaging Het
Kcnab2 T C 4: 152,401,918 probably benign Het
Knl1 C T 2: 119,069,152 P445S probably benign Het
Lamb2 G A 9: 108,487,542 C1165Y probably damaging Het
Nisch C T 14: 31,187,094 probably benign Het
Olfr1097 A G 2: 86,891,076 L33P probably damaging Het
Olfr1357 C T 10: 78,612,270 V124M probably damaging Het
Olfr164 A T 16: 19,286,462 S94T probably benign Het
Olfr889 A G 9: 38,116,597 D267G probably benign Het
Pde3b T A 7: 114,534,608 M953K probably damaging Het
Pdzph1 A G 17: 58,967,511 probably benign Het
Plce1 T C 19: 38,769,446 probably benign Het
Prr23a3 G T 9: 98,865,244 V84L possibly damaging Het
Psg26 A G 7: 18,480,146 V197A probably benign Het
Ripk4 A T 16: 97,755,177 V122E possibly damaging Het
Scd2 A G 19: 44,301,340 N258S probably damaging Het
Slc38a1 A T 15: 96,578,798 V394E probably damaging Het
Slc7a15 A G 12: 8,539,023 S175P possibly damaging Het
Tacc2 T A 7: 130,626,212 D1542E possibly damaging Het
Trim67 G T 8: 124,794,058 R53L probably benign Het
Urah A T 7: 140,835,663 T38S probably damaging Het
Vps13c A G 9: 67,967,136 S3362G probably damaging Het
Wwc1 T C 11: 35,844,151 probably benign Het
Zfyve28 T C 5: 34,243,205 T50A probably damaging Het
Other mutations in Ptpa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02066:Ptpa APN 2 30443296 missense possibly damaging 0.83
IGL02073:Ptpa APN 2 30443350 missense probably damaging 1.00
R1602:Ptpa UTSW 2 30437590 missense probably benign 0.22
R3962:Ptpa UTSW 2 30435660 missense probably damaging 1.00
R4080:Ptpa UTSW 2 30443305 missense probably damaging 1.00
R5186:Ptpa UTSW 2 30438355 critical splice donor site probably null
R6622:Ptpa UTSW 2 30437577 missense probably damaging 1.00
R7943:Ptpa UTSW 2 30432044 missense probably damaging 1.00
R8190:Ptpa UTSW 2 30438339 missense probably damaging 1.00
R9147:Ptpa UTSW 2 30438243 missense probably damaging 1.00
R9147:Ptpa UTSW 2 30438244 missense probably benign 0.21
R9148:Ptpa UTSW 2 30438243 missense probably damaging 1.00
R9148:Ptpa UTSW 2 30438244 missense probably benign 0.21
Posted On 2015-04-16