Incidental Mutation 'R5234:Ppp1r14b'
ID 486777
Institutional Source Beutler Lab
Gene Symbol Ppp1r14b
Ensembl Gene ENSMUSG00000056612
Gene Name protein phosphatase 1, regulatory inhibitor subunit 14B
Synonyms AOM172, PLCB3N, Png, PHI-1
MMRRC Submission 042806-MU
Accession Numbers
Essential gene? Not available question?
Stock # R5234 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 6952416-6954692 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6954227 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q62084
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 71,302,823 (GRCm39) T2132M probably damaging Het
Abca8b A T 11: 109,867,420 (GRCm39) F213I possibly damaging Het
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Adamts6 A G 13: 104,630,130 (GRCm39) Y1091C probably damaging Het
Adamtsl4 T C 3: 95,588,230 (GRCm39) M586V probably benign Het
Anapc4 T C 5: 53,006,118 (GRCm39) S336P probably damaging Het
Atp1a4 A T 1: 172,054,737 (GRCm39) I964K possibly damaging Het
Bcan A T 3: 87,903,453 (GRCm39) D246E probably damaging Het
Ccnf G A 17: 24,453,411 (GRCm39) R343* probably null Het
Col6a5 T C 9: 105,741,404 (GRCm39) H2505R probably damaging Het
Dlg5 T A 14: 24,242,930 (GRCm39) M72L probably damaging Het
Dnajc18 T C 18: 35,816,351 (GRCm39) T196A probably benign Het
Dnajc19 T A 3: 34,112,108 (GRCm39) I146F probably benign Het
Espnl A G 1: 91,272,515 (GRCm39) D581G probably benign Het
Fam167a T C 14: 63,689,787 (GRCm39) L28P probably damaging Het
Fra10ac1 T C 19: 38,204,294 (GRCm39) D94G probably damaging Het
Fut8 A G 12: 77,379,004 (GRCm39) H35R probably benign Het
Gad1-ps T A 10: 99,281,188 (GRCm39) noncoding transcript Het
Garin2 T A 12: 78,762,045 (GRCm39) Y236* probably null Het
Idh2 A T 7: 79,745,853 (GRCm39) V333E probably damaging Het
Inpp5f A G 7: 128,265,407 (GRCm39) I121V probably benign Het
Itga1 A T 13: 115,185,839 (GRCm39) Y54* probably null Het
Lax1 A G 1: 133,608,321 (GRCm39) V140A probably benign Het
Ncoa6 A G 2: 155,279,933 (GRCm39) F28L probably benign Het
Or12e10 T C 2: 87,641,112 (GRCm39) V316A probably benign Het
Or1q1 T C 2: 36,887,107 (GRCm39) V95A probably benign Het
Polr2a T C 11: 69,627,666 (GRCm39) I1414V probably benign Het
Prune2 A G 19: 17,096,032 (GRCm39) D512G probably damaging Het
Psmd11 A G 11: 80,319,566 (GRCm39) I19V probably benign Het
Pthlh C A 6: 147,158,592 (GRCm39) G123W probably damaging Het
Qars1 T A 9: 108,391,364 (GRCm39) L572Q probably damaging Het
Rubcn T C 16: 32,656,828 (GRCm39) I516V probably damaging Het
Sgsm3 A T 15: 80,892,145 (GRCm39) S238C probably damaging Het
Slc25a22 C A 7: 141,014,116 (GRCm39) probably benign Het
Slc4a1 G A 11: 102,252,209 (GRCm39) R5W probably benign Het
Tie1 G A 4: 118,339,959 (GRCm39) T356I probably benign Het
Tnn A T 1: 159,972,569 (GRCm39) H344Q possibly damaging Het
Tnrc6c G T 11: 117,651,555 (GRCm39) V1693F probably benign Het
Topaz1 C T 9: 122,619,258 (GRCm39) T1285M possibly damaging Het
Trank1 A T 9: 111,215,535 (GRCm39) S1822C probably damaging Het
Ttll11 A C 2: 35,830,745 (GRCm39) Y209D probably damaging Het
Unc45a C G 7: 79,978,547 (GRCm39) A634P probably benign Het
Vmn2r4 C T 3: 64,305,878 (GRCm39) V515I possibly damaging Het
Other mutations in Ppp1r14b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5762:Ppp1r14b UTSW 19 6,953,951 (GRCm39) missense probably damaging 1.00
R9799:Ppp1r14b UTSW 19 6,952,825 (GRCm39) missense possibly damaging 0.52
Predicted Primers PCR Primer
(F):5'- AAGCTGAGGTCACCTAGTGG -3'
(R):5'- TGTGCTCAGCTTCTGCATGC -3'

Sequencing Primer
(F):5'- TGGAGACACGGCCCCTTG -3'
(R):5'- TGCATGCCCCGGATCTTG -3'
Posted On 2017-08-17