|Institutional Source||Beutler Lab|
|Gene Name||dual specificity phosphatase 6|
|Synonyms||PYST1, MKP-3, 1300019I03Rik, MKP3|
|Is this an essential gene?||Possibly essential (E-score: 0.586)|
|Stock #||R7398 (G1)|
|Chromosomal Location||99263231-99267489 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 99264878 bp|
|Amino Acid Change||Asparagine to Lysine at position 245 (N245K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000020118 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020118] [ENSMUST00000220291]|
|Predicted Effect||probably damaging
AA Change: N245K
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: N245K
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates ERK2, is expressed in a variety of tissues with the highest levels in heart and pancreas, and unlike most other members of this family, is localized in the cytoplasm. Mutations in this gene have been associated with congenital hypogonadotropic hypogonadism. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous or heterozygous for a null mutation display partial penetrance of postnatal lethality, reduced body weight, and abnormal growth plate morphology. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dusp6||
(F):5'- ACTCTTCCTCGGACATTGAGTC -3'
(R):5'- AGACAGTAGAAGACCTGCAGTC -3'
(F):5'- ATTGAGTCTGACCTTGACCGAGAC -3'
(R):5'- GCAGTCCAGCAAAACAGCCTG -3'