|Institutional Source||Beutler Lab|
|Gene Name||protein phosphatase 1, regulatory subunit 9B|
|Synonyms||SPL, Spn, spinophilin, neurabin II|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6188 (G1)|
|Chromosomal Location||94991035-95006899 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 94991836 bp|
|Amino Acid Change||Arginine to Tryptophan at position 97 (R97W)|
|Ref Sequence||ENSEMBL: ENSMUSP00000041732 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000038696] [ENSMUST00000107748]|
|Predicted Effect||probably damaging
AA Change: R97W
PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
AA Change: R97W
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
|Validation Efficiency||98% (61/62)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a scaffold protein that functions as a regulatory subunit of protein phosphatase 1a. Expression of this gene is particularly high in dendritic spines, suggesting that the encoded protein may play a role in receiving signals from the central nervous system. The encoded protein has putative tumor suppressor function and decreased expression has been observed in tumors. [provided by RefSeq, Feb 2014]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit abnormal glutamatergic synaptic transmission, reduced long-term depression, resistance to kainate-induced seizures, impaired taste aversion learning, and increased dendritic spine density. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ppp1r9b||
(F):5'- ATGATGAAGACGGAGCCTCG -3'
(R):5'- AGTCGGCTTTCTCGAAGACC -3'
(F):5'- CGGGCATCCAGGCACTAAAG -3'
(R):5'- TTTCTCGAAGACCGCACTGAG -3'