Incidental Mutation 'R3705:Ppp1r14c'
ID 258712
Institutional Source Beutler Lab
Gene Symbol Ppp1r14c
Ensembl Gene ENSMUSG00000040653
Gene Name protein phosphatase 1, regulatory inhibitor subunit 14C
Synonyms 6330514J04Rik, KEPI
MMRRC Submission 040698-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R3705 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 3316057-3414975 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3373524 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 112 (I112V)
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: I112V

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000045110
Gene: ENSMUSG00000040653
AA Change: I112V

DomainStartEndE-ValueType
low complexity region 6 19 N/A INTRINSIC
Pfam:PP1_inhibitor 36 164 1.1e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117005
Predicted Effect probably benign
Transcript: ENSMUST00000217573
Meta Mutation Damage Score 0.0626 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 100% (46/46)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T C 11: 48,838,803 (GRCm39) T595A possibly damaging Het
Abca12 T C 1: 71,324,864 (GRCm39) D1538G probably damaging Het
Asap3 TGAGGAGGAGGAGGAGGA TGAGGAGGAGGAGGAGGAGGA 4: 135,968,552 (GRCm39) probably benign Het
Bcap29 T C 12: 31,667,151 (GRCm39) H170R probably benign Het
Bltp1 T A 3: 37,041,730 (GRCm39) C2703S probably damaging Het
Brwd3 A G X: 107,804,021 (GRCm39) probably benign Het
Capn1 T C 19: 6,057,401 (GRCm39) E349G probably damaging Het
Cers3 G T 7: 66,435,823 (GRCm39) A261S probably benign Het
Csf3r A G 4: 125,926,078 (GRCm39) D221G possibly damaging Het
Cubn T A 2: 13,355,754 (GRCm39) H1826L probably damaging Het
Dnajc19 A G 3: 34,134,378 (GRCm39) probably null Het
Dync1h1 G A 12: 110,607,020 (GRCm39) V2566I possibly damaging Het
Ehd1 A G 19: 6,348,330 (GRCm39) D436G Het
Fam133b T C 5: 3,611,034 (GRCm39) probably benign Het
Fam43b G C 4: 138,122,409 (GRCm39) R304G probably benign Het
Gpnmb T A 6: 49,028,799 (GRCm39) I439N possibly damaging Het
Grm1 G A 10: 10,658,473 (GRCm39) T339I possibly damaging Het
Gtpbp3 T G 8: 71,944,779 (GRCm39) S345A probably benign Het
Hdac4 A G 1: 91,862,416 (GRCm39) probably benign Het
Hfm1 A G 5: 107,040,705 (GRCm39) probably benign Het
Ift172 A G 5: 31,418,781 (GRCm39) probably null Het
Igfn1 T C 1: 135,896,147 (GRCm39) N1473S probably benign Het
Jak3 A G 8: 72,134,166 (GRCm39) K423E probably damaging Het
Kifc3 G A 8: 95,830,656 (GRCm39) probably benign Het
Lrrc8d T C 5: 105,961,341 (GRCm39) S584P probably damaging Het
Nipal4 T C 11: 46,052,678 (GRCm39) probably benign Het
Nisch A G 14: 30,898,702 (GRCm39) probably benign Het
Nmur2 T C 11: 55,931,300 (GRCm39) Y137C probably damaging Het
Nod2 T C 8: 89,379,948 (GRCm39) S150P probably benign Het
Or5w22 A G 2: 87,362,412 (GRCm39) I12V probably benign Het
Pdgfc T C 3: 81,111,751 (GRCm39) probably null Het
Phldb1 G T 9: 44,605,691 (GRCm39) H1323N probably damaging Het
Pramel26 T C 4: 143,538,345 (GRCm39) T209A probably benign Het
Rcc1l A T 5: 134,183,030 (GRCm39) V414E probably damaging Het
Riok3 A G 18: 12,282,011 (GRCm39) M327V probably benign Het
Sf3b4 T C 3: 96,083,944 (GRCm39) probably benign Het
Spag6 A G 2: 18,715,368 (GRCm39) Y49C probably damaging Het
Syngap1 T C 17: 27,178,994 (GRCm39) S495P probably damaging Het
Tedc2 A G 17: 24,435,361 (GRCm39) S343P probably benign Het
Tenm2 T A 11: 35,959,153 (GRCm39) D1132V probably damaging Het
Tmem63a G A 1: 180,790,679 (GRCm39) D446N possibly damaging Het
Top1 G A 2: 160,544,744 (GRCm39) probably null Het
Tox3 G T 8: 90,975,533 (GRCm39) T366K possibly damaging Het
Tph2 G A 10: 114,955,798 (GRCm39) Q332* probably null Het
Zfr2 T G 10: 81,081,913 (GRCm39) V493G probably benign 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
R2295:Ppp1r14c UTSW 10 3,316,734 (GRCm39) missense possibly damaging 0.93
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'- GAATGTAGTGCTCCTGTGCC -3'
(R):5'- TGCCATTGTTCAAATCCTGGG -3'

Sequencing Primer
(F):5'- GTAGTGCTCCTGTGCCTTTGTTC -3'
(R):5'- TTCAAATCCTGGGGGCTGC -3'
Posted On 2015-01-23