|Institutional Source||Beutler Lab|
|Gene Name||protein phosphatase 1, regulatory (inhibitor) subunit 14c|
|Is this an essential gene?||Probably non essential (E-score: 0.077)|
|Stock #||R4573 (G1)|
|Chromosomal Location||3366057-3464975 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 3463416 bp|
|Amino Acid Change||Isoleucine to Valine at position 150 (I150V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000045110 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000043374] [ENSMUST00000217573]|
|Predicted Effect||possibly damaging
AA Change: I150V
PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: I150V
|Predicted Effect||probably benign
AA Change: I111V
PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|Coding Region Coverage||
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||
|Other mutations in Ppp1r14c||
(F):5'- GGCTGGGAAGTTTAAGCATTTCC -3'
(R):5'- GTCCAAGTTGTAGTAGCTTTGCC -3'
(F):5'- GGAAGTTTAAGCATTTCCTGTTTTCC -3'
(R):5'- TTCTTCATCGCCGAGAGA -3'