|Institutional Source||Beutler Lab|
|Gene Name||poly(rC) binding protein 1|
|Synonyms||hnRNP E1, WBP17, [a]CP-1|
|Is this an essential gene?||Probably essential (E-score: 0.950)|
|Stock #||R7135 (G1)|
|Chromosomal Location||86524492-86526321 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 86525506 bp|
|Amino Acid Change||Methionine to Lysine at position 137 (M137K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000054863 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000053015]|
|Predicted Effect||possibly damaging
AA Change: M137K
PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: M137K
|Coding Region Coverage||
|Validation Efficiency||100% (83/83)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene is thought to have been generated by retrotransposition of a fully processed PCBP-2 mRNA. This gene and PCBP-2 have paralogues (PCBP3 and PCBP4) which are thought to have arisen as a result of duplication events of entire genes. The protein encoded by this gene appears to be multifunctional. It along with PCBP-2 and hnRNPK corresponds to the major cellular poly(rC)-binding protein. It contains three K-homologous (KH) domains which may be involved in RNA binding. This encoded protein together with PCBP-2 also functions as translational coactivators of poliovirus RNA via a sequence-specific interaction with stem-loop IV of the IRES and promote poliovirus RNA replication by binding to its 5'-terminal cloverleaf structure. It has also been implicated in translational control of the 15-lipoxygenase mRNA, human Papillomavirus type 16 L2 mRNA, and hepatitis A virus RNA. The encoded protein is also suggested to play a part in formation of a sequence-specific alpha-globin mRNP complex which is associated with alpha-globin mRNA stability. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice heterozygous for a knock-out allele exhibit reduced body weight. Mice homozygous for the allele exhibit embryonic lethality between E3.5 and E8.5. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pcbp1||
(F):5'- TCCTTGAATCGAGTAGGCGTC -3'
(R):5'- GGAGGAAGATATCAACAGCTCC -3'
(F):5'- CCTTGAATCGAGTAGGCGTCTAGAG -3'
(R):5'- CATGACCAACAGTACGGCGG -3'