Incidental Mutation 'IGL01417:Pcbp1'
ID 80439
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcbp1
Ensembl Gene ENSMUSG00000051695
Gene Name poly(rC) binding protein 1
Synonyms WBP17, hnRNP E1, [a]CP-1
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # IGL01417
Quality Score
Status
Chromosome 6
Chromosomal Location 86501462-86503171 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86502836 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 21 (H21R)
Ref Sequence ENSEMBL: ENSMUSP00000054863 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053015]
AlphaFold P60335
Predicted Effect probably damaging
Transcript: ENSMUST00000053015
AA Change: H21R

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000054863
Gene: ENSMUSG00000051695
AA Change: H21R

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
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa13 T A 15: 58,228,043 (GRCm39) noncoding transcript Het
Ctdsp2 T C 10: 126,829,743 (GRCm39) I125T probably benign Het
Dnah7a T C 1: 53,623,759 (GRCm39) K1044E probably benign Het
Edem2 T C 2: 155,570,898 (GRCm39) Y44C probably damaging Het
Elmo1 T C 13: 20,435,345 (GRCm39) probably null Het
Flnb T C 14: 7,905,513 (GRCm38) S1088P probably damaging Het
Fmnl1 A G 11: 103,087,520 (GRCm39) probably benign Het
Fv1 T A 4: 147,953,786 (GRCm39) C117* probably null Het
Hmcn1 T C 1: 150,734,990 (GRCm39) D174G probably damaging Het
Htatip2 G A 7: 49,420,573 (GRCm39) V140I possibly damaging Het
Mill1 G T 7: 17,998,708 (GRCm39) R306L probably benign Het
Myoz2 G A 3: 122,800,081 (GRCm39) T249I possibly damaging Het
Nrdc T C 4: 108,858,027 (GRCm39) probably benign Het
Or2r3 T A 6: 42,449,046 (GRCm39) H22L probably benign Het
Pdcd2l A C 7: 33,892,170 (GRCm39) L221R probably damaging Het
Ppp1r3b A G 8: 35,851,566 (GRCm39) E135G probably damaging Het
Rbsn T C 6: 92,184,100 (GRCm39) E71G possibly damaging Het
Shc3 T C 13: 51,585,200 (GRCm39) R472G probably benign Het
Sox8 A C 17: 25,786,502 (GRCm39) probably null Het
Tacr3 G T 3: 134,535,242 (GRCm39) W70L possibly damaging Het
Tacr3 A T 3: 134,535,307 (GRCm39) I92F possibly damaging Het
Ubr4 A G 4: 139,138,111 (GRCm39) N1156S probably damaging Het
Upk3b T C 5: 136,067,920 (GRCm39) I37T possibly damaging Het
Vmn1r35 T A 6: 66,656,191 (GRCm39) I160F probably benign Het
Vps50 T C 6: 3,522,377 (GRCm39) probably benign Het
Other mutations in Pcbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2968:Pcbp1 UTSW 6 86,502,471 (GRCm39) missense probably damaging 1.00
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
Posted On 2013-11-05