Incidental Mutation 'R4575:Ppp1r14c'
ID 342410
Institutional Source Beutler Lab
Gene Symbol Ppp1r14c
Ensembl Gene ENSMUSG00000040653
Gene Name protein phosphatase 1, regulatory inhibitor subunit 14C
Synonyms 6330514J04Rik, KEPI
MMRRC Submission 041798-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R4575 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 3316057-3414975 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 3316912 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 82 (K82N)
Ref Sequence ENSEMBL: ENSMUSP00000149688 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043374] [ENSMUST00000217573]
AlphaFold Q8R4S0
Predicted Effect probably benign
Transcript: ENSMUST00000043374
AA Change: K82N

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000045110
Gene: ENSMUSG00000040653
AA Change: K82N

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 probably damaging
Transcript: ENSMUST00000217573
AA Change: K82N

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
Meta Mutation Damage Score 0.4792 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik C T 7: 130,964,325 (GRCm39) A26T probably benign Het
4930408O17Rik C A 12: 104,837,527 (GRCm39) noncoding transcript Het
Adgrf3 T A 5: 30,407,255 (GRCm39) M224L probably benign Het
Ago3 T C 4: 126,240,475 (GRCm39) H129R probably benign Het
Aoc1l1 C T 6: 48,954,502 (GRCm39) Q547* probably null Het
Asb10 C T 5: 24,745,052 (GRCm39) R99H probably damaging Het
Auts2 C T 5: 132,287,773 (GRCm39) G70E probably benign Het
Bltp3a T C 17: 28,106,477 (GRCm39) V1001A probably benign Het
Ccdc96 T C 5: 36,643,419 (GRCm39) V475A possibly damaging Het
Cimip2a T C 2: 25,110,300 (GRCm39) S71P probably benign Het
Clec4b2 T A 6: 123,150,639 (GRCm39) L16Q probably damaging Het
Cyp2c68 T A 19: 39,722,805 (GRCm39) I248L probably benign Het
Cyp2d22 G T 15: 82,256,133 (GRCm39) A167E possibly damaging Het
Dpysl3 T C 18: 43,475,312 (GRCm39) K382R probably damaging Het
Dscam A G 16: 96,626,823 (GRCm39) I362T possibly damaging Het
Edil3 T C 13: 89,467,850 (GRCm39) Y452H probably damaging Het
Elfn1 T C 5: 139,957,808 (GRCm39) S271P probably benign Het
Ep300 T C 15: 81,533,210 (GRCm39) S1756P unknown Het
Ep300 T A 15: 81,495,611 (GRCm39) probably benign Het
Fgd4 T C 16: 16,254,896 (GRCm39) Q507R probably damaging Het
Frem3 A G 8: 81,342,704 (GRCm39) T1666A probably benign Het
Frmd4a C A 2: 4,608,490 (GRCm39) A786E possibly damaging Het
Gabrr1 C T 4: 33,158,175 (GRCm39) T266I possibly damaging Het
Gm11563 G A 11: 99,549,275 (GRCm39) P160S unknown Het
Gm12790 T C 4: 101,825,324 (GRCm39) D30G probably benign Het
Haus8 A G 8: 71,715,736 (GRCm39) V34A probably damaging Het
Hgf T C 5: 16,777,599 (GRCm39) Y199H probably benign Het
Ide G A 19: 37,249,604 (GRCm39) P916L unknown Het
Igsf10 G T 3: 59,237,521 (GRCm39) H887N probably benign Het
Iigp1 A T 18: 60,523,218 (GRCm39) H112L probably benign Het
Impg2 A G 16: 56,082,095 (GRCm39) E1009G probably damaging Het
Khdc1a A C 1: 21,420,653 (GRCm39) D91A probably damaging Het
Klk12 A G 7: 43,422,667 (GRCm39) D198G probably damaging Het
Kntc1 T G 5: 123,904,018 (GRCm39) L345R probably damaging Het
Kprp T C 3: 92,731,271 (GRCm39) N593S probably benign Het
Krt1c T G 15: 101,722,921 (GRCm39) D359A probably damaging Het
Krt35 A T 11: 99,986,725 (GRCm39) N96K probably benign Het
Lnx1 T C 5: 74,846,204 (GRCm39) D82G probably damaging Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Nfib A T 4: 82,215,048 (GRCm39) S518R probably damaging Het
Nol6 T C 4: 41,120,299 (GRCm39) I473V probably benign Het
Obscn T C 11: 59,013,598 (GRCm39) D1108G probably damaging Het
Or52m2 A T 7: 102,263,976 (GRCm39) C73* probably null Het
Or7g12 C A 9: 18,900,001 (GRCm39) S239* probably null Het
Otop1 T C 5: 38,457,065 (GRCm39) Y275H probably damaging Het
Prr14l T C 5: 32,950,988 (GRCm39) E1935G probably damaging Het
Ptprd C T 4: 76,162,023 (GRCm39) V78I possibly damaging Het
Rfc4 T A 16: 22,933,179 (GRCm39) probably benign Het
Rpn2 C A 2: 157,137,244 (GRCm39) A209E probably damaging Het
Sf1 T C 19: 6,425,943 (GRCm39) probably benign Het
Sft2d1rt T C 11: 45,942,679 (GRCm39) D148G probably damaging Het
Skint5 T A 4: 113,524,390 (GRCm39) S864C unknown Het
Slc2a10 C G 2: 165,358,241 (GRCm39) N455K probably damaging Het
Snrnp200 T A 2: 127,076,986 (GRCm39) I1673N probably benign Het
Sri G T 5: 8,113,693 (GRCm39) G152W probably damaging Het
Srpra T C 9: 35,125,904 (GRCm39) I394T possibly damaging Het
Svop C T 5: 114,203,743 (GRCm39) V13M probably damaging Het
Traf3ip2 A G 10: 39,510,650 (GRCm39) N308D probably damaging Het
Vmn2r125 T A 4: 156,702,272 (GRCm39) D19E probably null Het
Vmn2r16 A T 5: 109,511,665 (GRCm39) Y624F possibly 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
R2295:Ppp1r14c UTSW 10 3,316,734 (GRCm39) missense possibly damaging 0.93
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
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'- GCGTGTCTTCTTCCAGAGTC -3'
(R):5'- GCCATCAAGGGAGCCTATAG -3'

Sequencing Primer
(F):5'- TCTTCCAGAGTCCCCGCG -3'
(R):5'- TGGCTCTAGGCAGCTGAAC -3'
Posted On 2015-09-24