Incidental Mutation 'R6129:Pcbp3'
ID 487578
Institutional Source Beutler Lab
Gene Symbol Pcbp3
Ensembl Gene ENSMUSG00000001120
Gene Name poly(rC) binding protein 3
Synonyms AlphaCP-3
MMRRC Submission 044276-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.227) question?
Stock # R6129 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 76597691-76797721 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76599182 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 318 (E318G)
Ref Sequence ENSEMBL: ENSMUSP00000129465 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001148] [ENSMUST00000092393] [ENSMUST00000105411] [ENSMUST00000168465]
AlphaFold P57722
Predicted Effect probably damaging
Transcript: ENSMUST00000001148
AA Change: E318G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000001148
Gene: ENSMUSG00000001120
AA Change: E318G

DomainStartEndE-ValueType
KH 44 112 4.66e-17 SMART
KH 128 199 2.08e-14 SMART
KH 292 362 1.77e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000092393
SMART Domains Protein: ENSMUSP00000090048
Gene: ENSMUSG00000001120

DomainStartEndE-ValueType
KH 12 80 4.66e-17 SMART
KH 96 167 2.08e-14 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000105411
AA Change: E317G

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000101051
Gene: ENSMUSG00000001120
AA Change: E317G

DomainStartEndE-ValueType
KH 44 112 4.66e-17 SMART
KH 128 199 2.08e-14 SMART
KH 291 361 1.77e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168240
Predicted Effect probably damaging
Transcript: ENSMUST00000168465
AA Change: E318G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000129465
Gene: ENSMUSG00000001120
AA Change: E318G

DomainStartEndE-ValueType
KH 44 112 4.66e-17 SMART
KH 128 199 2.08e-14 SMART
KH 292 362 1.77e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168505
Predicted Effect unknown
Transcript: ENSMUST00000173854
AA Change: E107G
SMART Domains Protein: ENSMUSP00000134144
Gene: ENSMUSG00000001120
AA Change: E107G

DomainStartEndE-ValueType
Blast:KH 8 63 4e-27 BLAST
KH 82 152 1.77e-17 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency 100% (54/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the KH-domain protein subfamily. Proteins of this subfamily, also referred to as alpha-CPs, bind to RNA with a specificity for C-rich pyrimidine regions. Alpha-CPs play important roles in post-transcriptional activities and have different cellular distributions. The protein encoded by this gene lacks the nuclear localization signals found in other subfamily members. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2017]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810408A11Rik T A 11: 69,789,137 (GRCm39) Y354F probably damaging Het
Aatk C T 11: 119,912,359 (GRCm39) G29S probably damaging Het
Acsm2 G A 7: 119,190,470 (GRCm39) probably null Het
Adgrl1 A G 8: 84,645,616 (GRCm39) N80D probably damaging Het
Ankrd34a T A 3: 96,505,274 (GRCm39) Y159* probably null Het
Bcl2l2 G A 14: 55,122,202 (GRCm39) V122M possibly damaging Het
Brms1l A G 12: 55,914,970 (GRCm39) H293R probably benign Het
Ccn1 T C 3: 145,354,986 (GRCm39) I90V possibly damaging Het
Clec4b1 A G 6: 123,045,461 (GRCm39) T94A possibly damaging Het
Crim1 A G 17: 78,588,738 (GRCm39) D271G probably benign Het
Csmd2 G A 4: 128,387,127 (GRCm39) G2141S possibly damaging Het
Cspg4b T A 13: 113,505,340 (GRCm39) Y2156* probably null Het
Ctnnal1 C A 4: 56,829,573 (GRCm39) A419S possibly damaging Het
Cyp27a1 G A 1: 74,774,851 (GRCm39) R264H probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dsc2 T A 18: 20,178,487 (GRCm39) T306S possibly damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Ermp1 A T 19: 29,600,609 (GRCm39) Y586N possibly damaging Het
Fbxo6 A T 4: 148,233,979 (GRCm39) I39N probably damaging Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm5114 C T 7: 39,058,024 (GRCm39) A532T possibly damaging Het
Gm5431 A G 11: 48,780,418 (GRCm39) L168P probably damaging Het
Hao2 T C 3: 98,787,842 (GRCm39) T196A probably benign Het
Hdac9 A C 12: 34,337,474 (GRCm39) L669R probably damaging Het
Hps5 A G 7: 46,421,198 (GRCm39) V755A probably benign Het
Jag2 G T 12: 112,883,969 (GRCm39) Y203* probably null Het
Lrrn3 G A 12: 41,503,787 (GRCm39) Q177* probably null Het
Me1 A T 9: 86,533,009 (GRCm39) V151E probably damaging Het
Mkx A G 18: 6,992,888 (GRCm39) V132A probably damaging Het
Mycbp2 A G 14: 103,522,836 (GRCm39) S643P probably benign Het
Mysm1 C A 4: 94,856,192 (GRCm39) R135L probably damaging Het
Nup210l T C 3: 90,011,483 (GRCm39) F4L probably benign Het
Pappa2 A T 1: 158,542,567 (GRCm39) C1773* probably null Het
Pcdh12 T C 18: 38,410,912 (GRCm39) K984E probably damaging Het
Pcna-ps2 A G 19: 9,261,379 (GRCm39) N213D possibly damaging Het
Pde8b G A 13: 95,178,467 (GRCm39) A509V probably damaging Het
Peg10 GAT GATCAT 6: 4,756,449 (GRCm39) probably benign Het
Phf7 A G 14: 30,962,820 (GRCm39) Y137H probably damaging Het
Pkd1l1 A G 11: 8,818,543 (GRCm39) V1315A probably benign Het
Plxnd1 A G 6: 115,955,135 (GRCm39) C571R probably damaging Het
Ppp1r12b C T 1: 134,819,990 (GRCm39) W251* probably null Het
Prps1l1 A G 12: 35,035,329 (GRCm39) E148G probably damaging Het
Robo1 A T 16: 72,809,956 (GRCm39) M1235L probably benign Het
Robo3 A G 9: 37,334,589 (GRCm39) Y592H probably benign Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Rufy1 A T 11: 50,308,075 (GRCm39) L259Q probably damaging Het
Rusc2 T C 4: 43,424,271 (GRCm39) F1112S probably damaging Het
Sap130 T C 18: 31,815,144 (GRCm39) V622A possibly damaging Het
Sptbn4 C A 7: 27,059,513 (GRCm39) C1124F probably damaging Het
Stk10 T A 11: 32,565,871 (GRCm39) C872S probably damaging Het
Tex15 A T 8: 34,064,158 (GRCm39) N1196I possibly damaging Het
Tnxa A G 17: 35,019,262 (GRCm39) probably benign Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Zscan4b T A 7: 10,635,815 (GRCm39) T171S probably benign Het
Other mutations in Pcbp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01641:Pcbp3 APN 10 76,603,691 (GRCm39) splice site probably benign
R1294:Pcbp3 UTSW 10 76,599,155 (GRCm39) missense probably damaging 1.00
R2101:Pcbp3 UTSW 10 76,625,589 (GRCm39) missense possibly damaging 0.71
R4324:Pcbp3 UTSW 10 76,599,177 (GRCm39) nonsense probably null
R4675:Pcbp3 UTSW 10 76,606,869 (GRCm39) missense possibly damaging 0.94
R8817:Pcbp3 UTSW 10 76,625,670 (GRCm39) missense probably benign 0.00
R9196:Pcbp3 UTSW 10 76,621,003 (GRCm39) missense probably damaging 0.96
R9249:Pcbp3 UTSW 10 76,635,377 (GRCm39) missense probably benign 0.21
R9536:Pcbp3 UTSW 10 76,599,225 (GRCm39) missense possibly damaging 0.81
Z1088:Pcbp3 UTSW 10 76,599,157 (GRCm39) missense probably benign 0.25
Z1177:Pcbp3 UTSW 10 76,598,348 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- CTGTATCAGTCAGGCTGTGG -3'
(R):5'- TCAGGACTTTGCAGTGCCTG -3'

Sequencing Primer
(F):5'- GGGCTGCGAGTCATAGCTAG -3'
(R):5'- CTTTCCAGAGCGCTGAGTTCATAG -3'
Posted On 2017-10-10