Incidental Mutation 'R9571:Pcbp2'
ID 722013
Institutional Source Beutler Lab
Gene Symbol Pcbp2
Ensembl Gene ENSMUSG00000056851
Gene Name poly(rC) binding protein 2
Synonyms alphaCP-2, Hnrpx
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R9571 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 102378974-102408496 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102383113 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 77 (D77G)
Ref Sequence ENSEMBL: ENSMUSP00000076294 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077037] [ENSMUST00000078404] [ENSMUST00000108838] [ENSMUST00000229102] [ENSMUST00000229184] [ENSMUST00000229222] [ENSMUST00000229275] [ENSMUST00000229618] [ENSMUST00000229746] [ENSMUST00000229802] [ENSMUST00000229854] [ENSMUST00000229918] [ENSMUST00000229958] [ENSMUST00000230114] [ENSMUST00000230211] [ENSMUST00000230539] [ENSMUST00000230577] [ENSMUST00000230728] [ENSMUST00000230918] [ENSMUST00000231085] [ENSMUST00000231089]
AlphaFold Q61990
Predicted Effect possibly damaging
Transcript: ENSMUST00000077037
AA Change: D77G

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000076294
Gene: ENSMUSG00000056851
AA Change: D77G

DomainStartEndE-ValueType
KH 12 80 5.96e-15 SMART
KH 96 167 2.48e-12 SMART
KH 283 353 5.19e-15 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000078404
AA Change: D77G

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000077509
Gene: ENSMUSG00000056851
AA Change: D77G

DomainStartEndE-ValueType
KH 12 80 5.96e-15 SMART
KH 96 167 2.48e-12 SMART
KH 270 340 5.19e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108838
AA Change: D77G

PolyPhen 2 Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000104466
Gene: ENSMUSG00000056851
AA Change: D77G

DomainStartEndE-ValueType
KH 12 80 5.96e-15 SMART
KH 96 167 2.48e-12 SMART
KH 252 322 5.19e-15 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000229102
AA Change: D77G

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000229184
AA Change: D77G

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
Predicted Effect
Predicted Effect possibly damaging
Transcript: ENSMUST00000229222
AA Change: D77G

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000229275
AA Change: D77G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect
Predicted Effect possibly damaging
Transcript: ENSMUST00000229618
AA Change: D77G

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000229746
AA Change: D39G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
Predicted Effect probably benign
Transcript: ENSMUST00000229802
AA Change: D77G

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000229854
AA Change: D77G

PolyPhen 2 Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000229918
AA Change: D77G

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000229958
AA Change: D77G

PolyPhen 2 Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect possibly damaging
Transcript: ENSMUST00000230114
AA Change: D77G

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000230211
AA Change: D39G

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect possibly damaging
Transcript: ENSMUST00000230539
AA Change: D39G

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000230577
AA Change: D46G

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000230682
Predicted Effect probably benign
Transcript: ENSMUST00000230728
AA Change: D77G

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000230918
AA Change: D46G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
Predicted Effect probably benign
Transcript: ENSMUST00000231085
Predicted Effect probably benign
Transcript: ENSMUST00000231089
AA Change: D77G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene appears to be multifunctional. Along with PCBP-1 and hnRNPK, it is one of the major cellular poly(rC)-binding proteins. The encoded protein contains three K-homologous (KH) domains which may be involved in RNA binding. Together with PCBP-1, this protein also functions as a translational coactivator of poliovirus RNA via a sequence-specific interaction with stem-loop IV of the IRES, promoting 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. This multiexon structural mRNA is thought to be retrotransposed to generate PCBP-1, an intronless gene with functions similar to that of PCBP2. This gene and PCBP-1 have paralogous genes (PCBP3 and PCBP4) which are thought to have arisen as a result of duplication events of entire genes. Thsi gene also has two processed pseudogenes (PCBP2P1 and PCBP2P2). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice heterozygous for a knock-out allele exhibit decreased body weight, impaired erythroblast maturation and lowered mean platelet counts. Mice homozygous for this allele die between E12.5 and E15.5 with hemorrhage and edema. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020A23Rik A G 2: 130,247,482 (GRCm39) D6G probably benign Het
Abl2 T G 1: 156,469,084 (GRCm39) S783A probably damaging Het
Adamtsl1 A T 4: 86,117,543 (GRCm39) T169S probably benign Het
Adcy9 A G 16: 4,141,653 (GRCm39) V621A probably benign Het
Ahnak2 T C 12: 112,742,510 (GRCm39) S521G possibly damaging Het
Ap2m1 G A 16: 20,360,037 (GRCm39) G213R probably damaging Het
Apol11b C T 15: 77,524,771 (GRCm39) E5K possibly damaging Het
Arl4d T C 11: 101,558,032 (GRCm39) M186T possibly damaging Het
Cep192 A G 18: 67,952,109 (GRCm39) D428G probably damaging Het
Ckap5 A C 2: 91,387,953 (GRCm39) D266A probably damaging Het
Crls1 A T 2: 132,691,793 (GRCm39) N106I probably damaging Het
Csmd3 T A 15: 48,655,398 (GRCm39) probably benign Het
Csnk1a1 A G 18: 61,704,969 (GRCm39) R161G possibly damaging Het
Cyp4f39 T A 17: 32,702,196 (GRCm39) I231N probably damaging Het
Ddx31 T A 2: 28,750,034 (GRCm39) V352D probably damaging Het
Dna2 A G 10: 62,800,740 (GRCm39) D758G probably damaging Het
Duxf4 G A 10: 58,071,378 (GRCm39) L279F possibly damaging Het
Gatad2a C A 8: 70,370,381 (GRCm39) A172S probably benign Het
Ghsr G T 3: 27,426,664 (GRCm39) R240L probably benign Het
Gli3 T A 13: 15,900,858 (GRCm39) M1415K probably benign Het
Glo1 G A 17: 30,816,835 (GRCm39) T107I possibly damaging Het
Gm10800 AAAGAAAACTGAA ACAAGAAAACTGAA 2: 98,497,378 (GRCm39) probably null Het
Gm17334 C T 11: 53,663,760 (GRCm39) V34M unknown Het
Habp4 T A 13: 64,322,615 (GRCm39) M228K probably benign Het
Hacl1 A G 14: 31,344,838 (GRCm39) V257A possibly damaging Het
Ift122 T G 6: 115,857,628 (GRCm39) S125A possibly damaging Het
Iqce C T 5: 140,651,862 (GRCm39) D704N possibly damaging Het
Jcad T A 18: 4,673,252 (GRCm39) L338* probably null Het
Kcnj13 T C 1: 87,316,849 (GRCm39) D88G probably damaging Het
Kif1b T C 4: 149,305,098 (GRCm39) D942G probably damaging Het
Marchf8 T A 6: 116,383,237 (GRCm39) S271T probably benign Het
Meis1 A G 11: 18,961,378 (GRCm39) L165S probably damaging Het
Morc2b T A 17: 33,355,178 (GRCm39) T865S probably benign Het
Morc3 T A 16: 93,641,107 (GRCm39) N46K possibly damaging Het
Mpzl1 C T 1: 165,429,374 (GRCm39) C219Y probably benign Het
Mup5 A G 4: 61,750,787 (GRCm39) probably null Het
Ninl A T 2: 150,791,803 (GRCm39) W907R probably benign Het
Nol6 A T 4: 41,120,156 (GRCm39) S491T probably benign Het
Or4f53 A T 2: 111,088,083 (GRCm39) I208F probably benign Het
Or51g1 A G 7: 102,634,221 (GRCm39) V50A probably benign Het
Or5b121 T A 19: 13,507,697 (GRCm39) I264N probably damaging Het
Or6c205 C A 10: 129,087,182 (GRCm39) P260T possibly damaging Het
Osbpl6 T A 2: 76,425,191 (GRCm39) M919K probably benign Het
Otogl A T 10: 107,598,364 (GRCm39) V2262E possibly damaging Het
Pcsk7 G A 9: 45,820,907 (GRCm39) R113Q possibly damaging Het
Pds5b T C 5: 150,645,971 (GRCm39) I143T probably damaging Het
Polr2m T C 9: 71,386,710 (GRCm39) E357G possibly damaging Het
Prox2 G A 12: 85,141,766 (GRCm39) Q146* probably null Het
Ptprt A G 2: 161,395,732 (GRCm39) V1167A probably benign Het
Rbm11 G A 16: 75,397,543 (GRCm39) E158K possibly damaging Het
Sall2 A T 14: 52,551,830 (GRCm39) V455E probably damaging Het
Sar1b T A 11: 51,680,064 (GRCm39) L130Q probably damaging Het
Slc35f6 A G 5: 30,815,180 (GRCm39) N369S possibly damaging Het
Slc39a12 A T 2: 14,412,380 (GRCm39) M351L probably benign Het
Taf15 T A 11: 83,395,487 (GRCm39) Y397* probably null Het
Tmprss11e A T 5: 86,875,149 (GRCm39) V39D probably damaging Het
Trim71 T C 9: 114,342,359 (GRCm39) D641G probably damaging Het
Trpc3 T A 3: 36,694,909 (GRCm39) T682S probably damaging Het
Tsen54 T C 11: 115,707,933 (GRCm39) probably null Het
Usp6nl A G 2: 6,445,960 (GRCm39) N646D possibly damaging Het
Vip T C 10: 5,590,661 (GRCm39) F12L probably benign Het
Vmn1r39 A T 6: 66,781,572 (GRCm39) F249I probably benign Het
Vmn2r106 A T 17: 20,505,641 (GRCm39) S18T probably benign Het
Vmn2r97 G T 17: 19,149,919 (GRCm39) V436L probably benign Het
Washc2 T C 6: 116,237,631 (GRCm39) probably null Het
Ykt6 T C 11: 5,914,613 (GRCm39) V171A possibly damaging Het
Zfp658 A G 7: 43,222,139 (GRCm39) D138G possibly damaging Het
Other mutations in Pcbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00470:Pcbp2 APN 15 102,399,148 (GRCm39) missense probably damaging 1.00
IGL01530:Pcbp2 APN 15 102,392,601 (GRCm39) missense probably benign 0.03
IGL01641:Pcbp2 APN 15 102,382,575 (GRCm39) missense probably damaging 1.00
IGL02966:Pcbp2 APN 15 102,392,684 (GRCm39) splice site probably benign
Plastic UTSW 15 102,399,214 (GRCm39) missense probably damaging 1.00
R0116:Pcbp2 UTSW 15 102,382,670 (GRCm39) splice site probably benign
R0924:Pcbp2 UTSW 15 102,398,197 (GRCm39) missense probably damaging 1.00
R4227:Pcbp2 UTSW 15 102,387,066 (GRCm39) missense probably benign 0.38
R5333:Pcbp2 UTSW 15 102,394,456 (GRCm39) missense possibly damaging 0.82
R5653:Pcbp2 UTSW 15 102,395,524 (GRCm39) missense probably damaging 1.00
R5814:Pcbp2 UTSW 15 102,391,597 (GRCm39) missense probably damaging 0.99
R6731:Pcbp2 UTSW 15 102,397,225 (GRCm39) missense probably damaging 0.99
R7120:Pcbp2 UTSW 15 102,383,113 (GRCm39) missense possibly damaging 0.94
R7320:Pcbp2 UTSW 15 102,381,782 (GRCm39) missense probably damaging 1.00
R8025:Pcbp2 UTSW 15 102,396,711 (GRCm39) missense probably benign 0.04
R8831:Pcbp2 UTSW 15 102,394,453 (GRCm39) missense probably benign 0.02
R8969:Pcbp2 UTSW 15 102,399,214 (GRCm39) missense probably damaging 1.00
R9231:Pcbp2 UTSW 15 102,394,477 (GRCm39) critical splice donor site probably null
R9498:Pcbp2 UTSW 15 102,406,941 (GRCm39) missense probably benign 0.00
R9623:Pcbp2 UTSW 15 102,392,628 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTAGCATTTGTTATCTAGGACAGAC -3'
(R):5'- AGTGCCAGATTTACAAAACGAG -3'

Sequencing Primer
(F):5'- GAGTGGTGCACGTATCAA -3'
(R):5'- ATGGTGGCTTACAACCATGC -3'
Posted On 2022-08-09