Incidental Mutation 'R2968:Pcbp1'
ID 263311
Institutional Source Beutler Lab
Gene Symbol Pcbp1
Ensembl Gene ENSMUSG00000051695
Gene Name poly(rC) binding protein 1
Synonyms WBP17, hnRNP E1, [a]CP-1
MMRRC Submission 040524-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R2968 (G1)
Quality Score 105
Status Not validated
Chromosome 6
Chromosomal Location 86501462-86503171 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 86502471 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 143 (E143K)
Ref Sequence ENSEMBL: ENSMUSP00000054863 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053015]
AlphaFold P60335
Predicted Effect probably damaging
Transcript: ENSMUST00000053015
AA Change: E143K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000054863
Gene: ENSMUSG00000051695
AA Change: E143K

DomainStartEndE-ValueType
KH 12 80 3.99e-16 SMART
KH 96 167 2.39e-14 SMART
KH 278 348 1.34e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180896
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181928
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204008
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204047
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204068
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204738
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205028
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype 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
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T A 5: 8,911,485 (GRCm39) I1113N probably damaging Het
Arhgap12 A T 18: 6,111,732 (GRCm39) S211T probably damaging Het
Celsr3 G T 9: 108,709,390 (GRCm39) C1412F probably damaging Het
Cnga3 A G 1: 37,300,159 (GRCm39) Y331C probably damaging Het
Cntln T A 4: 84,875,504 (GRCm39) S313T probably benign Het
Ddx54 T A 5: 120,756,694 (GRCm39) D134E probably damaging Het
Dennd4c A G 4: 86,699,881 (GRCm39) D244G possibly damaging Het
Dsg3 A T 18: 20,658,282 (GRCm39) T298S possibly damaging Het
Dusp1 A T 17: 26,726,679 (GRCm39) F128I probably damaging Het
Fam83g T A 11: 61,594,304 (GRCm39) S613T probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably benign Het
Grep1 A G 17: 23,934,785 (GRCm39) F149S possibly damaging Het
Ighv8-12 C T 12: 115,611,570 (GRCm39) R118Q probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Mrgprb5 T A 7: 47,818,317 (GRCm39) R139S probably damaging Het
Or51b6 T C 7: 103,556,519 (GRCm39) V291A probably benign Het
Plxna1 A G 6: 89,319,590 (GRCm39) S572P probably damaging Het
Serpina3n C T 12: 104,375,333 (GRCm39) T135M probably benign Het
Spink11 A T 18: 44,328,777 (GRCm39) F24I possibly damaging Het
Tes A G 6: 17,096,233 (GRCm39) T74A probably benign Het
Vipas39 T C 12: 87,289,345 (GRCm39) N373S probably benign Het
Wdr75 A G 1: 45,856,501 (GRCm39) D508G probably damaging Het
Other mutations in Pcbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01417:Pcbp1 APN 6 86,502,836 (GRCm39) missense probably damaging 0.96
R3148:Pcbp1 UTSW 6 86,502,471 (GRCm39) missense probably damaging 1.00
R4522:Pcbp1 UTSW 6 86,502,032 (GRCm39) missense probably benign 0.01
R5119:Pcbp1 UTSW 6 86,501,897 (GRCm39) missense probably damaging 1.00
R5225:Pcbp1 UTSW 6 86,502,209 (GRCm39) missense probably damaging 0.96
R5386:Pcbp1 UTSW 6 86,502,471 (GRCm39) missense probably damaging 1.00
R5698:Pcbp1 UTSW 6 86,502,134 (GRCm39) missense possibly damaging 0.93
R7135:Pcbp1 UTSW 6 86,502,488 (GRCm39) missense possibly damaging 0.80
R7329:Pcbp1 UTSW 6 86,502,098 (GRCm39) missense probably benign 0.01
R9573:Pcbp1 UTSW 6 86,502,677 (GRCm39) missense possibly damaging 0.78
Predicted Primers PCR Primer
(F):5'- TTGAATCGAGTAGGCGTCTAGAG -3'
(R):5'- TCCATGACCAACAGTACGGC -3'

Sequencing Primer
(F):5'- TAGGCGTCTAGAGGTGGTCCC -3'
(R):5'- AACAGTACGGCGGCCAG -3'
Posted On 2015-02-05