Incidental Mutation 'R5234:Ppp1r14b'
Institutional Source Beutler Lab
Gene Symbol Ppp1r14b
Ensembl Gene ENSMUSG00000056612
Gene Nameprotein phosphatase 1, regulatory (inhibitor) subunit 14B
SynonymsPLCB3N, PHI-1, Png, AOM172
MMRRC Submission 042806-MU
Accession Numbers
Is this an essential gene? Not available question?
Stock #R5234 (G1)
Quality Score225
Status Not validated
Chromosomal Location6975048-6977324 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 6976859 bp
Amino Acid Change Glutamic Acid to Glycine at position 115 (E115G)
Ref Sequence ENSEMBL: ENSMUSP00000064129 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070850] [ENSMUST00000070878] [ENSMUST00000177752]
Predicted Effect possibly damaging
Transcript: ENSMUST00000070850
AA Change: E115G

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000064129
Gene: ENSMUSG00000056612
AA Change: E115G

low complexity region 2 26 N/A INTRINSIC
Pfam:PP1_inhibitor 36 147 1.1e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000070878
SMART Domains Protein: ENSMUSP00000066839
Gene: ENSMUSG00000056629

low complexity region 6 21 N/A INTRINSIC
Pfam:FKBP_C 40 132 5.6e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177752
SMART Domains Protein: ENSMUSP00000136438
Gene: ENSMUSG00000056629

low complexity region 6 21 N/A INTRINSIC
Pfam:FKBP_C 40 132 4.8e-37 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G A 1: 71,263,664 T2132M probably damaging Het
Abca8b A T 11: 109,976,594 F213I possibly damaging Het
Acot11 C T 4: 106,760,130 G240R probably damaging Het
Adamts6 A G 13: 104,493,622 Y1091C probably damaging Het
Adamtsl4 T C 3: 95,680,920 M586V probably benign Het
Anapc4 T C 5: 52,848,776 S336P probably damaging Het
Atp1a4 A T 1: 172,227,170 I964K possibly damaging Het
Bcan A T 3: 87,996,146 D246E probably damaging Het
Ccnf G A 17: 24,234,437 R343* probably null Het
Col6a5 T C 9: 105,864,205 H2505R probably damaging Het
Dlg5 T A 14: 24,192,862 M72L probably damaging Het
Dnajc18 T C 18: 35,683,298 T196A probably benign Het
Dnajc19 T A 3: 34,057,959 I146F probably benign Het
Espnl A G 1: 91,344,793 D581G probably benign Het
Fam167a T C 14: 63,452,338 L28P probably damaging Het
Fam71d T A 12: 78,715,271 Y236* probably null Het
Fra10ac1 T C 19: 38,215,846 D94G probably damaging Het
Fut8 A G 12: 77,332,230 H35R probably benign Het
Gad1-ps T A 10: 99,445,326 noncoding transcript Het
Idh2 A T 7: 80,096,105 V333E probably damaging Het
Inpp5f A G 7: 128,663,683 I121V probably benign Het
Itga1 A T 13: 115,049,303 Y54* probably null Het
Lax1 A G 1: 133,680,583 V140A probably benign Het
Ncoa6 A G 2: 155,438,013 F28L probably benign Het
Olfr1145 T C 2: 87,810,768 V316A probably benign Het
Olfr357 T C 2: 36,997,095 V95A probably benign Het
Polr2a T C 11: 69,736,840 I1414V probably benign Het
Prune2 A G 19: 17,118,668 D512G probably damaging Het
Psmd11 A G 11: 80,428,740 I19V probably benign Het
Pthlh C A 6: 147,257,094 G123W probably damaging Het
Qars T A 9: 108,514,165 L572Q probably damaging Het
Rubcn T C 16: 32,836,458 I516V probably damaging Het
Sgsm3 A T 15: 81,007,944 S238C probably damaging Het
Slc25a22 C A 7: 141,434,203 probably benign Het
Slc4a1 G A 11: 102,361,383 R5W probably benign Het
Tie1 G A 4: 118,482,762 T356I probably benign Het
Tnn A T 1: 160,144,999 H344Q possibly damaging Het
Tnrc6c G T 11: 117,760,729 V1693F probably benign Het
Topaz1 C T 9: 122,790,193 T1285M possibly damaging Het
Trank1 A T 9: 111,386,467 S1822C probably damaging Het
Ttll11 A C 2: 35,940,733 Y209D probably damaging Het
Unc45a C G 7: 80,328,799 A634P probably benign Het
Vmn2r4 C T 3: 64,398,457 V515I possibly damaging Het
Other mutations in Ppp1r14b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5762:Ppp1r14b UTSW 19 6976583 missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On2017-08-17