Incidental Mutation 'IGL01538:Ppp2r2d'
ID90053
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: 0.909) question?
Stock #IGL01538
Quality Score
Status
Chromosome7
Chromosomal Location138846079-138883057 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 138876635 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 169 (Y169N)
Ref Sequence ENSEMBL: ENSMUSP00000119004 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041097] [ENSMUST00000136824] [ENSMUST00000155672]
Predicted Effect probably damaging
Transcript: ENSMUST00000041097
AA Change: Y334N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000040321
Gene: ENSMUSG00000041769
AA Change: Y334N

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 benign
Transcript: ENSMUST00000136824
SMART Domains Protein: ENSMUSP00000133380
Gene: ENSMUSG00000041769

DomainStartEndE-ValueType
PDB:3DW8|E 6 69 3e-31 PDB
Blast:WD40 15 57 3e-22 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000155672
AA Change: Y169N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000119004
Gene: ENSMUSG00000041769
AA Change: Y169N

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 probably benign
Transcript: ENSMUST00000172764
SMART Domains Protein: ENSMUSP00000133810
Gene: ENSMUSG00000041769

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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533K18Rik A G 10: 70,872,202 noncoding transcript Het
Abca3 G T 17: 24,376,473 C328F possibly damaging Het
Aldh5a1 T C 13: 24,918,512 N323D possibly damaging Het
Atp5c1 T C 2: 10,068,666 Y32C probably damaging Het
Capn3 T G 2: 120,502,186 probably null Het
Ccdc113 C A 8: 95,551,238 D275E probably benign Het
Ccdc40 T A 11: 119,242,719 F562I possibly damaging Het
Cd96 T C 16: 46,109,127 T152A possibly damaging Het
Cdh7 T A 1: 110,061,140 D257E probably damaging Het
Cilp2 T C 8: 69,881,204 D1048G probably benign Het
Clrn2 T G 5: 45,460,066 L93R probably damaging Het
Crat C A 2: 30,409,966 G134V probably damaging Het
Dis3 A T 14: 99,097,745 N140K probably benign Het
Dmxl2 T A 9: 54,445,376 probably benign Het
Dus1l T A 11: 120,793,079 Q181L probably damaging Het
Ece1 A G 4: 137,948,544 T410A probably benign Het
Gcc1 T A 6: 28,421,048 H90L probably damaging Het
Gm16602 G A 13: 19,336,570 probably benign Het
Gm1966 T C 7: 106,602,537 D500G probably damaging Het
Gpr152 T A 19: 4,142,952 V164E probably damaging Het
Grik3 A C 4: 125,694,036 I650L possibly damaging Het
Gzmm A T 10: 79,695,062 T233S probably benign Het
H2-Q4 T A 17: 35,383,312 V341D probably benign Het
Igsf21 A G 4: 140,027,718 probably benign Het
Kmt2d T C 15: 98,860,657 probably benign Het
Kntc1 T G 5: 123,781,658 V864G probably damaging Het
Lnx1 T C 5: 74,620,155 E235G possibly damaging Het
Man2b1 G T 8: 85,097,430 K985N probably benign Het
Map4k1 C A 7: 29,001,619 P670Q probably damaging Het
Mapk8ip1 C A 2: 92,388,974 probably null Het
Mettl16 T A 11: 74,792,267 Y178* probably null Het
Mrpl11 T A 19: 4,963,421 probably null Het
Nup85 T C 11: 115,569,714 S140P possibly damaging Het
Olfr1140 T C 2: 87,746,598 V134A probably benign Het
Olfr1301 T A 2: 111,755,005 V252E probably damaging Het
Olfr301 T C 7: 86,412,959 L199P possibly damaging Het
Olfr352 T C 2: 36,870,520 probably benign Het
Pcdhb2 T A 18: 37,295,322 L116* probably null Het
Pdcd7 C A 9: 65,346,703 R188S probably damaging Het
Pdk2 T C 11: 95,027,285 Y374C probably damaging Het
Ppp1r12a G T 10: 108,234,021 D224Y probably damaging Het
Prcp A C 7: 92,910,213 T162P probably benign Het
Prkd1 A G 12: 50,342,142 S873P probably benign Het
Ptpn2 T C 18: 67,681,553 T129A probably benign Het
Rtkn G A 6: 83,146,061 R68H probably damaging Het
Sall4 C T 2: 168,755,856 D355N probably damaging Het
Scn7a A G 2: 66,703,852 V493A probably benign Het
Sema4b G A 7: 80,215,696 A140T probably damaging Het
Shisa6 C A 11: 66,217,828 G408C possibly damaging Het
Slc7a9 G T 7: 35,454,164 V197F probably damaging Het
Spata2 A T 2: 167,484,151 D249E probably damaging Het
Stk36 T A 1: 74,633,638 V1013E probably benign Het
Tcp10a T C 17: 7,343,500 V336A probably damaging Het
Tfb2m A T 1: 179,537,844 V185D possibly damaging Het
Tgm7 T A 2: 121,106,915 Y76F probably benign Het
Tph1 T C 7: 46,653,753 Y267C probably damaging Het
Ube2d1 A G 10: 71,255,826 probably benign Het
Vmn2r12 C A 5: 109,091,850 R282S probably damaging Het
Vps4a A G 8: 107,036,924 D72G probably benign Het
Wipf2 T A 11: 98,890,803 V56D possibly damaging Het
Wisp3 A G 10: 39,158,310 Y99H probably damaging Het
Zfp750 C A 11: 121,512,165 V586L probably benign Het
Zfp831 A G 2: 174,644,606 E358G possibly damaging Het
Other mutations in Ppp2r2d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01154:Ppp2r2d APN 7 138882211 missense probably benign
IGL02266:Ppp2r2d APN 7 138868437 missense probably damaging 0.97
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 On2013-12-03