Incidental Mutation 'R1294:Pcbp3'
ID 158025
Institutional Source Beutler Lab
Gene Symbol Pcbp3
Ensembl Gene ENSMUSG00000001120
Gene Name poly(rC) binding protein 3
Synonyms AlphaCP-3
MMRRC Submission 039360-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.227) question?
Stock # R1294 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 76597691-76797721 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76599155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 327 (I327T)
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: I327T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001148
Gene: ENSMUSG00000001120
AA Change: I327T

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 probably damaging
Transcript: ENSMUST00000105411
AA Change: I326T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101051
Gene: ENSMUSG00000001120
AA Change: I326T

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: I327T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129465
Gene: ENSMUSG00000001120
AA Change: I327T

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: I116T
SMART Domains Protein: ENSMUSP00000134144
Gene: ENSMUSG00000001120
AA Change: I116T

DomainStartEndE-ValueType
Blast:KH 8 63 4e-27 BLAST
KH 82 152 1.77e-17 SMART
Meta Mutation Damage Score 0.9354 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.4%
Validation Efficiency 97% (33/34)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
C2cd2 A G 16: 97,723,469 (GRCm39) L16P probably damaging Het
Cfap57 A T 4: 118,463,731 (GRCm39) probably null Het
Cnn2 A G 10: 79,829,359 (GRCm39) D163G probably damaging Het
Csmd1 T C 8: 16,748,052 (GRCm39) D233G probably damaging Het
Csta2 T A 16: 36,077,618 (GRCm39) D58E probably damaging Het
Dhh T C 15: 98,792,264 (GRCm39) Q248R probably benign Het
Elavl2 G A 4: 91,199,826 (GRCm39) A19V probably benign Het
Fxr1 T A 3: 34,101,201 (GRCm39) M169K probably benign Het
Ghr A G 15: 3,418,128 (GRCm39) probably null Het
Gm5334 T C 7: 68,268,862 (GRCm39) S94P probably damaging Het
Klk1b3 C A 7: 43,849,720 (GRCm39) S35Y probably damaging Het
Lama5 T C 2: 179,832,714 (GRCm39) N1646S probably benign Het
Lap3 T C 5: 45,655,863 (GRCm39) V156A probably benign Het
Plaat5 A G 19: 7,592,015 (GRCm39) probably benign Het
Polr1a A T 6: 71,889,886 (GRCm39) N35I probably damaging Het
Rab3c T C 13: 110,397,099 (GRCm39) T56A possibly damaging Het
Rapsn A T 2: 90,867,120 (GRCm39) K141* probably null Het
Rxrg G T 1: 167,441,470 (GRCm39) A83S probably benign Het
Serpinc1 T C 1: 160,817,211 (GRCm39) S102P probably damaging Het
Setd2 A G 9: 110,378,575 (GRCm39) N797D probably benign Het
Skic2 T C 17: 35,060,040 (GRCm39) probably null Het
Slc24a1 A T 9: 64,843,295 (GRCm39) V619E unknown Het
Slc25a20 A G 9: 108,554,838 (GRCm39) M128V probably benign Het
Spam1 A G 6: 24,796,906 (GRCm39) I286V probably benign Het
Tbc1d22a T A 15: 86,381,027 (GRCm39) F479Y probably damaging Het
Tdrd1 A G 19: 56,837,208 (GRCm39) probably null Het
Trim58 T A 11: 58,533,953 (GRCm39) I169N probably benign Het
Vmn1r25 A G 6: 57,955,464 (GRCm39) I275T possibly damaging Het
Zfp27 T A 7: 29,595,737 (GRCm39) Y76F possibly damaging Het
Other mutations in Pcbp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01641:Pcbp3 APN 10 76,603,691 (GRCm39) splice site probably benign
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
R6129:Pcbp3 UTSW 10 76,599,182 (GRCm39) missense probably damaging 0.98
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'- TAGGAAAATGGGCACGGCTCTCAC -3'
(R):5'- GCAGTGTTTCCAGCCTAGCCTATC -3'

Sequencing Primer
(F):5'- CCATTTCCCTGTGGAGGCTG -3'
(R):5'- TAGCCTATCCCCTGAGGTGAC -3'
Posted On 2014-02-18