Incidental Mutation 'R0924:Pcbp2'
ID 83115
Institutional Source Beutler Lab
Gene Symbol Pcbp2
Ensembl Gene ENSMUSG00000056851
Gene Name poly(rC) binding protein 2
Synonyms alphaCP-2, Hnrpx
MMRRC Submission 039071-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # R0924 (G1)
Quality Score 188
Status Validated
Chromosome 15
Chromosomal Location 102378974-102408496 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 102398197 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 182 (D182E)
Ref Sequence ENSEMBL: ENSMUSP00000155431 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077037] [ENSMUST00000078404] [ENSMUST00000108838] [ENSMUST00000229061] [ENSMUST00000229102] [ENSMUST00000229184] [ENSMUST00000229802] [ENSMUST00000230114] [ENSMUST00000229618] [ENSMUST00000229854] [ENSMUST00000229918] [ENSMUST00000230211] [ENSMUST00000229958] [ENSMUST00000229746] [ENSMUST00000230577] [ENSMUST00000231089] [ENSMUST00000231085] [ENSMUST00000230918] [ENSMUST00000230728] [ENSMUST00000230539]
AlphaFold Q61990
Predicted Effect probably benign
Transcript: ENSMUST00000077037
AA Change: D279E

PolyPhen 2 Score 0.318 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000076294
Gene: ENSMUSG00000056851
AA Change: D279E

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 probably benign
Transcript: ENSMUST00000078404
AA Change: D279E

PolyPhen 2 Score 0.318 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000077509
Gene: ENSMUSG00000056851
AA Change: D279E

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 damaging
Transcript: ENSMUST00000108838
AA Change: D239E

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000104466
Gene: ENSMUSG00000056851
AA Change: D239E

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 noncoding transcript
Transcript: ENSMUST00000184881
Predicted Effect probably damaging
Transcript: ENSMUST00000229061
AA Change: D101E

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000229102
Predicted Effect probably benign
Transcript: ENSMUST00000229184
AA Change: D233E

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000229802
AA Change: D252E

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect unknown
Transcript: ENSMUST00000229533
AA Change: D195E
Predicted Effect probably benign
Transcript: ENSMUST00000230114
AA Change: D278E

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect unknown
Transcript: ENSMUST00000229432
AA Change: D97E
Predicted Effect probably benign
Transcript: ENSMUST00000229618
AA Change: D248E

PolyPhen 2 Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect unknown
Transcript: ENSMUST00000229219
AA Change: D241E
Predicted Effect probably benign
Transcript: ENSMUST00000229854
AA Change: D266E

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000229918
AA Change: D252E

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230129
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229822
Predicted Effect probably benign
Transcript: ENSMUST00000230211
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230282
Predicted Effect probably benign
Transcript: ENSMUST00000229958
Predicted Effect probably benign
Transcript: ENSMUST00000229746
Predicted Effect possibly damaging
Transcript: ENSMUST00000230577
AA Change: D252E

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000231089
AA Change: D234E

PolyPhen 2 Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect unknown
Transcript: ENSMUST00000230682
AA Change: D156E
Predicted Effect probably damaging
Transcript: ENSMUST00000231085
AA Change: D182E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect possibly damaging
Transcript: ENSMUST00000230918
AA Change: D216E

PolyPhen 2 Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000230728
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230997
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230631
Predicted Effect probably benign
Transcript: ENSMUST00000230539
Meta Mutation Damage Score 0.0667 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 96.2%
Validation Efficiency 97% (69/71)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 A T 8: 114,432,028 (GRCm39) probably null Het
Ahcyl2 A C 6: 29,870,627 (GRCm39) probably null Het
Ajap1 T A 4: 153,470,929 (GRCm39) I293F probably damaging Het
Akap10 T C 11: 61,795,689 (GRCm39) probably benign Het
Aldh3b2 T C 19: 4,029,350 (GRCm39) V241A probably benign Het
Anxa6 A T 11: 54,885,214 (GRCm39) probably null Het
Atpaf1 T A 4: 115,652,635 (GRCm39) V12D probably damaging Het
Aurkb C A 11: 68,936,822 (GRCm39) Y12* probably null Het
Bicdl1 A G 5: 115,799,587 (GRCm39) probably benign Het
Bnc1 A T 7: 81,628,156 (GRCm39) probably benign Het
Bpi A G 2: 158,103,346 (GRCm39) I114V possibly damaging Het
Cacna1c A T 6: 118,652,857 (GRCm39) I772N probably damaging Het
Cacna2d1 A G 5: 16,570,860 (GRCm39) N1045D possibly damaging Het
Ccrl2 A G 9: 110,885,036 (GRCm39) V154A probably benign Het
Celsr3 C A 9: 108,723,224 (GRCm39) Q2831K possibly damaging Het
Cplane1 T C 15: 8,280,554 (GRCm39) probably benign Het
Cul3 A T 1: 80,267,835 (GRCm39) M102K probably damaging Het
Cwf19l2 T C 9: 3,441,047 (GRCm39) probably benign Het
Dlg5 G A 14: 24,185,645 (GRCm39) P1920L probably damaging Het
Dnah2 T C 11: 69,312,134 (GRCm39) H4393R probably damaging Het
Eif2b3 T A 4: 116,938,775 (GRCm39) V408D possibly damaging Het
Eml3 T C 19: 8,910,675 (GRCm39) probably null Het
Enpp2 T C 15: 54,770,355 (GRCm39) probably benign Het
Fcgbpl1 A T 7: 27,839,555 (GRCm39) Y456F probably damaging Het
Gm14178 T A 11: 99,638,326 (GRCm39) T18S Het
H2bc12 G A 13: 22,220,210 (GRCm39) D52N probably damaging Het
H2-M11 A G 17: 36,860,106 (GRCm39) M324V probably benign Het
H2-T13 A T 17: 36,394,824 (GRCm39) V33E probably damaging Het
Hdac10 T C 15: 89,010,065 (GRCm39) T298A probably benign Het
Hepacam A C 9: 37,295,224 (GRCm39) probably benign Het
Hmx3 A T 7: 131,144,813 (GRCm39) H41L probably benign Het
Ifi27l2a A G 12: 103,408,639 (GRCm39) V68A probably damaging Het
Itga11 A G 9: 62,683,956 (GRCm39) E1079G probably benign Het
Krt6a T C 15: 101,599,235 (GRCm39) probably benign Het
L1td1 A G 4: 98,625,862 (GRCm39) N686D probably damaging Het
Lrrtm2 G A 18: 35,346,808 (GRCm39) R165C probably damaging Het
Macf1 G T 4: 123,279,271 (GRCm39) A3910E probably damaging Het
Muc5ac A T 7: 141,361,252 (GRCm39) Y1521F possibly damaging Het
Myo7a A T 7: 97,747,463 (GRCm39) I129N probably damaging Het
Ncam1 A T 9: 49,473,476 (GRCm39) probably benign Het
Nckap1 A T 2: 80,384,593 (GRCm39) C114S probably benign Het
Nf1 T G 11: 79,344,692 (GRCm39) W1260G probably damaging Het
Or3a1d T C 11: 74,237,624 (GRCm39) Y262C probably damaging Het
Or6b2b A G 1: 92,419,127 (GRCm39) S117P possibly damaging Het
Or6c76b A T 10: 129,692,515 (GRCm39) I43F probably damaging Het
Oxtr A T 6: 112,466,598 (GRCm39) probably null Het
Pabpc4 C T 4: 123,188,458 (GRCm39) R356C possibly damaging Het
Pgm2 A T 5: 64,269,490 (GRCm39) I526F possibly damaging Het
Rab43 A T 6: 87,769,752 (GRCm39) Y151* probably null Het
Rbm19 A G 5: 120,264,269 (GRCm39) E343G probably benign Het
Rel A T 11: 23,692,439 (GRCm39) D531E probably benign Het
Rfx4 T A 10: 84,704,291 (GRCm39) V262E probably damaging Het
Rnf31 T C 14: 55,830,459 (GRCm39) probably benign Het
Robo3 T A 9: 37,340,778 (GRCm39) probably benign Het
Ryr3 A G 2: 112,672,178 (GRCm39) L1431P probably damaging Het
Sema3d A C 5: 12,513,183 (GRCm39) D51A possibly damaging Het
Sema6a A G 18: 47,381,559 (GRCm39) L996P probably damaging Het
Sh2d4a T A 8: 68,787,775 (GRCm39) F294I probably damaging Het
Sorl1 T A 9: 41,919,470 (GRCm39) probably benign Het
Sox1ot G T 8: 12,480,455 (GRCm39) noncoding transcript Het
Spsb3 A T 17: 25,110,358 (GRCm39) N395I probably damaging Het
Sptan1 A G 2: 29,906,040 (GRCm39) N1662S probably damaging Het
Srd5a2 G T 17: 74,331,516 (GRCm39) N160K probably damaging Het
Sting1 A G 18: 35,868,154 (GRCm39) probably null Het
Tmem132d G A 5: 128,061,503 (GRCm39) probably benign Het
Unc80 A T 1: 66,549,800 (GRCm39) Q686L possibly damaging Het
Vmn2r93 A G 17: 18,524,443 (GRCm39) T146A probably benign Het
Wdr19 A G 5: 65,413,782 (GRCm39) probably benign Het
Zfp646 C T 7: 127,482,982 (GRCm39) Q1500* probably null Het
Zfp683 T C 4: 133,783,138 (GRCm39) Y201H probably benign 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
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
R9571:Pcbp2 UTSW 15 102,383,113 (GRCm39) missense possibly damaging 0.94
R9623:Pcbp2 UTSW 15 102,392,628 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGCAGGAAATGGCATGAAATCAGC -3'
(R):5'- GCCCCACTTGTAGAAAGGGCAGATA -3'

Sequencing Primer
(F):5'- GTACAGAAGAATCTTTCTCCAGC -3'
(R):5'- gctgaaattaaaggcatacatcac -3'
Posted On 2013-11-08