Incidental Mutation 'IGL02266:Ppp2r2d'
ID286881
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp2r2d
Ensembl Gene ENSMUSG00000041769
Gene Nameprotein phosphatase 2, regulatory subunit B, delta
Synonyms1300017E19Rik, MDS026, D7Ertd753e
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.910) question?
Stock #IGL02266
Quality Score
Status
Chromosome7
Chromosomal Location138846079-138883057 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 138868437 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 38 (N38S)
Ref Sequence ENSEMBL: ENSMUSP00000133380 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041097] [ENSMUST00000136824] [ENSMUST00000148453] [ENSMUST00000155672]
Predicted Effect possibly damaging
Transcript: ENSMUST00000041097
AA Change: N43S

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000040321
Gene: ENSMUSG00000041769
AA Change: N43S

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
WD40 27 62 1.91e1 SMART
WD40 89 129 4.77e0 SMART
WD40 171 210 1.19e0 SMART
WD40 221 261 1.91e1 SMART
WD40 280 318 4.11e1 SMART
WD40 345 376 2.54e2 SMART
WD40 412 449 3.82e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128157
Predicted Effect probably damaging
Transcript: ENSMUST00000136824
AA Change: N38S

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000133380
Gene: ENSMUSG00000041769
AA Change: N38S

DomainStartEndE-ValueType
PDB:3DW8|E 6 69 3e-31 PDB
Blast:WD40 15 57 3e-22 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140047
Predicted Effect probably benign
Transcript: ENSMUST00000148453
SMART Domains Protein: ENSMUSP00000119183
Gene: ENSMUSG00000041769

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
PDB:3DW8|E 14 33 9e-7 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152104
Predicted Effect probably benign
Transcript: ENSMUST00000155672
SMART Domains Protein: ENSMUSP00000119004
Gene: ENSMUSG00000041769

DomainStartEndE-ValueType
WD40 6 45 1.19e0 SMART
WD40 56 96 1.91e1 SMART
WD40 115 153 4.11e1 SMART
WD40 180 211 2.54e2 SMART
WD40 247 284 3.82e1 SMART
Predicted Effect unknown
Transcript: ENSMUST00000172764
AA Change: N9S
SMART Domains Protein: ENSMUSP00000133810
Gene: ENSMUSG00000041769
AA Change: N9S

DomainStartEndE-ValueType
SCOP:d1k32a3 2 103 9e-8 SMART
PDB:3DW8|E 2 127 2e-75 PDB
Blast:WD40 56 96 4e-22 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174090
SMART Domains Protein: ENSMUSP00000134581
Gene: ENSMUSG00000041769

DomainStartEndE-ValueType
WD40 6 45 1.19e0 SMART
WD40 56 96 1.91e1 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G A 1: 71,268,201 Q1974* probably null Het
Actl11 G T 9: 107,931,183 V902L possibly damaging Het
Adam11 T C 11: 102,772,667 V274A probably damaging Het
Akr1b8 A G 6: 34,354,273 I15V probably benign Het
Chrm3 T A 13: 9,877,278 Q574L probably damaging Het
Crk C A 11: 75,679,589 R16S probably damaging Het
Ep400 T C 5: 110,695,297 probably benign Het
Eya1 T C 1: 14,184,501 N369S possibly damaging Het
Fam220a T C 5: 143,563,571 V246A possibly damaging Het
Fastkd5 A T 2: 130,615,561 F370I probably damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gpr75 A C 11: 30,891,977 Q294P probably benign Het
Hspg2 T C 4: 137,510,577 F204L probably damaging Het
Lrrc8c A C 5: 105,608,248 I630L probably benign Het
Narfl T A 17: 25,780,326 I238N possibly damaging Het
Nlrc4 T C 17: 74,446,167 D407G possibly damaging Het
Olfr1054 T A 2: 86,332,979 I126F probably damaging Het
Olfr1314 G A 2: 112,092,243 L153F probably benign Het
Pank1 A C 19: 34,813,686 probably benign Het
Pde3b A G 7: 114,526,966 T812A probably damaging Het
Phtf2 T G 5: 20,805,799 K63Q probably damaging Het
Pkhd1l1 A T 15: 44,573,614 H3456L probably damaging Het
Plcd1 A G 9: 119,074,787 probably benign Het
Ppip5k2 C T 1: 97,733,972 V734I possibly damaging Het
Rnpepl1 T A 1: 92,916,889 W368R probably damaging Het
Sidt1 T C 16: 44,254,985 D670G possibly damaging Het
Slc12a2 T A 18: 57,912,020 probably benign Het
Tekt5 A T 16: 10,379,042 I315N probably benign Het
Trappc11 A C 8: 47,505,731 C42G probably damaging Het
Trerf1 C T 17: 47,315,405 noncoding transcript Het
Ubqlnl C A 7: 104,149,547 E248* probably null Het
Ulk4 G T 9: 121,081,700 T1086K probably benign Het
Unc45a A T 7: 80,328,486 D680E probably damaging Het
Vmn2r107 T C 17: 20,356,777 Y346H probably damaging Het
Vmn2r73 A G 7: 85,875,799 I47T possibly damaging Het
Zbtb9 T C 17: 26,974,155 V178A probably benign Het
Zc3hav1 A T 6: 38,332,168 M573K probably benign Het
Zfp608 T C 18: 54,897,581 T1096A probably benign Het
Other mutations in Ppp2r2d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01154:Ppp2r2d APN 7 138882211 missense probably benign
IGL01538:Ppp2r2d APN 7 138876635 missense probably damaging 1.00
IGL02268:Ppp2r2d APN 7 138872971 missense probably null 1.00
IGL03263:Ppp2r2d APN 7 138872922 nonsense probably null
R0482:Ppp2r2d UTSW 7 138870431 missense probably benign 0.08
R1946:Ppp2r2d UTSW 7 138868467 missense probably damaging 1.00
R4043:Ppp2r2d UTSW 7 138882416 nonsense probably null
R4326:Ppp2r2d UTSW 7 138868485 missense probably damaging 1.00
R6164:Ppp2r2d UTSW 7 138873013 missense probably damaging 0.96
R7076:Ppp2r2d UTSW 7 138876597 missense possibly damaging 0.84
Posted On2015-04-16