|Institutional Source||Beutler Lab|
|Gene Name||protein tyrosine phosphatase, receptor type, B|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5214 (G1)|
|Chromosomal Location||116275523-116389535 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 116369324 bp|
|Amino Acid Change||Isoleucine to Threonine at position 2148 (I2148T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000151821 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000092167] [ENSMUST00000218553]|
|Predicted Effect||probably benign
AA Change: I1861T
PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
AA Change: I1861T
|Predicted Effect||possibly damaging
AA Change: I2148T
PolyPhen 2 Score 0.749 (Sensitivity: 0.85; Specificity: 0.92)
|Meta Mutation Damage Score||0.164|
|Coding Region Coverage||
|Validation Efficiency||100% (77/77)|
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 protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment and one intracytoplasmic catalytic domain, thus belongs to receptor type PTP. The extracellular region of this PTP is composed of multiple fibronectin type_III repeats, which was shown to interact with neuronal receptor and cell adhesion molecules, such as contactin and tenascin C. This protein was also found to interact with sodium channels, and thus may regulate sodium channels by altering tyrosine phosphorylation status. The functions of the interaction partners of this protein implicate the roles of this PTP in cell adhesion, neurite growth, and neuronal differentiation. Alternate transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality at E10, impaired vascular maintenace and remodeling, heart defects and abnormal yolk sac vasculature. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ptprb||
(F):5'- CCCAACTTACAAAGAAGGGGCTTT -3'
(R):5'- AACCTTCATGGACCACAGGC -3'
(F):5'- AGAAGGGGCTTTGTAAATCCTGC -3'
(R):5'- TCATGGACCACAGGCCTTTG -3'