Incidental Mutation 'R2295:Ppp1r14c'
ID 245147
Institutional Source Beutler Lab
Gene Symbol Ppp1r14c
Ensembl Gene ENSMUSG00000040653
Gene Name protein phosphatase 1, regulatory inhibitor subunit 14C
Synonyms 6330514J04Rik, KEPI
MMRRC Submission 040294-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R2295 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 3316057-3414975 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3316734 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 23 (F23S)
Ref Sequence ENSEMBL: ENSMUSP00000045110 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043374] [ENSMUST00000217573]
AlphaFold Q8R4S0
Predicted Effect possibly damaging
Transcript: ENSMUST00000043374
AA Change: F23S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000045110
Gene: ENSMUSG00000040653
AA Change: F23S

DomainStartEndE-ValueType
low complexity region 6 19 N/A INTRINSIC
Pfam:PP1_inhibitor 36 164 1.1e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181086
Predicted Effect possibly damaging
Transcript: ENSMUST00000217573
AA Change: F23S

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
Meta Mutation Damage Score 0.2295 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 100% (41/41)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The degree of protein phosphorylation is regulated by a balance of protein kinase and phosphatase activities. Protein phosphatase-1 (PP1; see MIM 176875) is a signal-transducing phosphatase that influences neuronal activity, protein synthesis, metabolism, muscle contraction, and cell division. PPP1R14C is an inhibitor of PP1 (Liu et al., 2002 [PubMed 11812771]).[supplied by OMIM, Feb 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit some prenatal lethality and enhanced behavioral response to morphine. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,039,729 (GRCm39) Y428C probably damaging Het
Adgrd1 G A 5: 129,199,570 (GRCm39) V136I probably benign Het
Aldh5a1 A G 13: 25,110,082 (GRCm39) F151S probably damaging Het
Alox12 T C 11: 70,133,291 (GRCm39) I638V probably benign Het
Arhgap42 A T 9: 9,115,745 (GRCm39) D110E probably damaging Het
Capn15 G A 17: 26,183,555 (GRCm39) R309* probably null Het
Crmp1 A G 5: 37,422,606 (GRCm39) I138V probably benign Het
Dennd3 G A 15: 73,395,404 (GRCm39) probably null Het
Dsp T C 13: 38,381,022 (GRCm39) V1990A probably benign Het
Dtna T G 18: 23,764,469 (GRCm39) L546R probably damaging Het
Elac1 T C 18: 73,872,300 (GRCm39) I232V probably benign Het
Hdgfl1 C T 13: 26,953,345 (GRCm39) E243K possibly damaging Het
Hexb A G 13: 97,322,120 (GRCm39) S222P probably damaging Het
Hs6st3 A G 14: 119,375,857 (GRCm39) T11A probably benign Het
Il18 A G 9: 50,490,635 (GRCm39) E90G probably benign Het
Itga8 T C 2: 12,187,520 (GRCm39) T720A probably benign Het
Kcnt1 G T 2: 25,790,933 (GRCm39) A11S probably damaging Het
Luzp2 T C 7: 54,821,938 (GRCm39) probably benign Het
Mpped2 A G 2: 106,529,846 (GRCm39) N32D possibly damaging Het
Nfic T C 10: 81,256,365 (GRCm39) K122E probably damaging Het
Ntm A G 9: 29,020,817 (GRCm39) V134A possibly damaging Het
Olfml2b G A 1: 170,490,107 (GRCm39) probably benign Het
Or56a4 A G 7: 104,806,532 (GRCm39) V119A probably benign Het
Or9q2 A T 19: 13,772,108 (GRCm39) I289N probably damaging Het
Osbpl9 A G 4: 109,059,331 (GRCm39) Y28H probably damaging Het
Pikfyve T A 1: 65,285,835 (GRCm39) Y1025N probably damaging Het
Pip5k1c G A 10: 81,141,020 (GRCm39) A43T probably benign Het
Polb A G 8: 23,143,335 (GRCm39) L19P probably damaging Het
Prkab1 A T 5: 116,159,715 (GRCm39) probably null Het
Slc6a21 G A 7: 44,929,952 (GRCm39) A147T possibly damaging Het
Slco6c1 A G 1: 97,053,473 (GRCm39) S143P probably damaging Het
Spen T C 4: 141,204,584 (GRCm39) N1348D unknown Het
Srgap1 T C 10: 121,630,665 (GRCm39) K751R probably benign Het
Sult2a1 A G 7: 13,569,884 (GRCm39) probably null Het
Svopl C A 6: 37,996,668 (GRCm39) A270S possibly damaging Het
Tekt2 T C 4: 126,217,486 (GRCm39) probably null Het
Toporsl A G 4: 52,610,176 (GRCm39) D23G probably damaging Het
Trim30d A C 7: 104,137,149 (GRCm39) C18W probably damaging Het
Trmt11 G C 10: 30,423,744 (GRCm39) P387R probably damaging Het
Other mutations in Ppp1r14c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03208:Ppp1r14c APN 10 3,373,531 (GRCm39) missense probably damaging 1.00
Thermite UTSW 10 3,373,510 (GRCm39) missense probably damaging 0.97
R1779:Ppp1r14c UTSW 10 3,316,890 (GRCm39) missense probably damaging 1.00
R1942:Ppp1r14c UTSW 10 3,413,417 (GRCm39) missense probably damaging 0.99
R3705:Ppp1r14c UTSW 10 3,373,524 (GRCm39) missense possibly damaging 0.89
R4573:Ppp1r14c UTSW 10 3,413,416 (GRCm39) missense possibly damaging 0.89
R4575:Ppp1r14c UTSW 10 3,316,912 (GRCm39) missense probably damaging 0.98
R4576:Ppp1r14c UTSW 10 3,316,912 (GRCm39) missense probably damaging 0.98
R4863:Ppp1r14c UTSW 10 3,316,702 (GRCm39) small deletion probably benign
R6705:Ppp1r14c UTSW 10 3,316,890 (GRCm39) missense probably damaging 0.98
R7594:Ppp1r14c UTSW 10 3,316,670 (GRCm39) missense possibly damaging 0.73
R7686:Ppp1r14c UTSW 10 3,413,396 (GRCm39) missense probably damaging 1.00
R7893:Ppp1r14c UTSW 10 3,373,510 (GRCm39) missense probably damaging 0.97
R9345:Ppp1r14c UTSW 10 3,373,567 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TTTAAGGCTTTGGTCCCCGC -3'
(R):5'- AAGCTCCTTACGGTCGTATTTCAC -3'

Sequencing Primer
(F):5'- AAGGATCCAGCGTCTAGGC -3'
(R):5'- ACGGTCGTATTTCACTGTCAC -3'
Posted On 2014-10-30