Incidental Mutation 'IGL01641:Pcbp3'
ID 93170
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcbp3
Ensembl Gene ENSMUSG00000001120
Gene Name poly(rC) binding protein 3
Synonyms AlphaCP-3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.227) question?
Stock # IGL01641
Quality Score
Status
Chromosome 10
Chromosomal Location 76597691-76797721 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 76603691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000001148] [ENSMUST00000092393] [ENSMUST00000105411] [ENSMUST00000168465]
AlphaFold P57722
Predicted Effect probably benign
Transcript: ENSMUST00000001148
SMART Domains Protein: ENSMUSP00000001148
Gene: ENSMUSG00000001120

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 benign
Transcript: ENSMUST00000105411
SMART Domains Protein: ENSMUSP00000101051
Gene: ENSMUSG00000001120

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 benign
Transcript: ENSMUST00000168465
SMART Domains Protein: ENSMUSP00000129465
Gene: ENSMUSG00000001120

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 probably benign
Transcript: ENSMUST00000173854
SMART Domains Protein: ENSMUSP00000134144
Gene: ENSMUSG00000001120

DomainStartEndE-ValueType
Blast:KH 8 63 4e-27 BLAST
KH 82 152 1.77e-17 SMART
Coding Region Coverage
Validation Efficiency
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: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adora1 A G 1: 134,161,852 (GRCm39) L81P probably damaging Het
Agl C A 3: 116,578,104 (GRCm39) E537* probably null Het
Bpifb4 A G 2: 153,784,601 (GRCm39) Y103C possibly damaging Het
Cobl T A 11: 12,259,641 (GRCm39) K375* probably null Het
Crisp4 C A 1: 18,194,514 (GRCm39) A160S possibly damaging Het
Foxs1 T C 2: 152,774,232 (GRCm39) T274A probably benign Het
Gm8220 A T 14: 44,525,628 (GRCm39) H14L probably benign Het
Irak3 T C 10: 120,012,252 (GRCm39) I171V probably benign Het
Itih2 A G 2: 10,115,250 (GRCm39) I374T probably benign Het
Or4c10b G A 2: 89,711,952 (GRCm39) A261T probably benign Het
Pcbp2 A G 15: 102,382,575 (GRCm39) S27G probably damaging Het
Pik3c2a A T 7: 115,950,000 (GRCm39) probably benign Het
Prickle1 A T 15: 93,398,453 (GRCm39) F792I probably benign Het
Ube2u A G 4: 100,338,854 (GRCm39) I40V probably benign Het
Vmn2r1 A G 3: 64,011,924 (GRCm39) E595G probably benign Het
Other mutations in Pcbp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-12-09