Incidental Mutation 'IGL01361:Pcbp4'
ID75743
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcbp4
Ensembl Gene ENSMUSG00000023495
Gene Namepoly(rC) binding protein 4
Synonyms1200003L19Rik, AlphaCP-4
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.629) question?
Stock #IGL01361
Quality Score
Status
Chromosome9
Chromosomal Location106453291-106464012 bp(+) (GRCm38)
Type of Mutationunclassified (713 bp from exon)
DNA Base Change (assembly) A to T at 106463249 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000129055 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024260] [ENSMUST00000164834] [ENSMUST00000185507] [ENSMUST00000185779] [ENSMUST00000185874] [ENSMUST00000188396] [ENSMUST00000189099] [ENSMUST00000190428] [ENSMUST00000190430] [ENSMUST00000213156] [ENSMUST00000214252] [ENSMUST00000215656] [ENSMUST00000216379]
Predicted Effect probably benign
Transcript: ENSMUST00000024260
AA Change: T348S

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000024260
Gene: ENSMUSG00000023495
AA Change: T348S

DomainStartEndE-ValueType
KH 16 84 4.15e-14 SMART
KH 100 171 1.47e-14 SMART
KH 240 310 3.24e-16 SMART
low complexity region 327 349 N/A INTRINSIC
low complexity region 364 381 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000164834
SMART Domains Protein: ENSMUSP00000129055
Gene: ENSMUSG00000091735

DomainStartEndE-ValueType
Pfam:7tm_1 31 286 1.1e-16 PFAM
low complexity region 294 311 N/A INTRINSIC
low complexity region 319 330 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000185507
SMART Domains Protein: ENSMUSP00000140660
Gene: ENSMUSG00000023495

DomainStartEndE-ValueType
KH 2 65 2.4e-10 SMART
low complexity region 117 131 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000185779
SMART Domains Protein: ENSMUSP00000140629
Gene: ENSMUSG00000023495

DomainStartEndE-ValueType
KH 16 84 2.6e-16 SMART
KH 100 171 9.3e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185854
Predicted Effect probably benign
Transcript: ENSMUST00000185874
SMART Domains Protein: ENSMUSP00000141057
Gene: ENSMUSG00000023495

DomainStartEndE-ValueType
KH 16 84 2.6e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185996
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186519
Predicted Effect probably benign
Transcript: ENSMUST00000188396
AA Change: T160S

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000139771
Gene: ENSMUSG00000023495
AA Change: T160S

DomainStartEndE-ValueType
Blast:KH 1 41 2e-19 BLAST
KH 61 122 1.7e-7 SMART
low complexity region 139 161 N/A INTRINSIC
low complexity region 176 193 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188448
Predicted Effect probably benign
Transcript: ENSMUST00000189099
SMART Domains Protein: ENSMUSP00000139991
Gene: ENSMUSG00000023495

DomainStartEndE-ValueType
Pfam:KH_1 33 77 1.3e-9 PFAM
Pfam:KH_3 36 77 3.4e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189882
Predicted Effect probably benign
Transcript: ENSMUST00000190428
SMART Domains Protein: ENSMUSP00000139587
Gene: ENSMUSG00000023495

DomainStartEndE-ValueType
PDB:2JZX|A 1 33 1e-8 PDB
Blast:KH 30 80 3e-26 BLAST
KH 100 167 2e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000190430
SMART Domains Protein: ENSMUSP00000140485
Gene: ENSMUSG00000023495

DomainStartEndE-ValueType
KH 16 84 2.6e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190799
Predicted Effect probably benign
Transcript: ENSMUST00000213156
Predicted Effect probably benign
Transcript: ENSMUST00000213201
Predicted Effect probably benign
Transcript: ENSMUST00000213752
Predicted Effect probably benign
Transcript: ENSMUST00000214252
Predicted Effect probably benign
Transcript: ENSMUST00000215656
Predicted Effect probably benign
Transcript: ENSMUST00000216379
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217405
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. This gene is induced by the p53 tumor suppressor, and the encoded protein can suppress cell proliferation by inducing apoptosis and cell cycle arrest in G(2)-M. This gene's protein is found in the cytoplasm, yet it lacks the nuclear localization signals found in other subfamily members. Multiple alternatively spliced transcript variants have been described, but the full-length nature for only some has been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous or heterozygous for a knock-out allele are reduced in body weight and prone to lung adenocarcinoma, B cell derived lymphoma and lung tumors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd36 T A 11: 5,596,706 probably benign Het
C1qtnf3 G A 15: 10,960,682 G157D probably damaging Het
Cacna1b T C 2: 24,679,095 E940G possibly damaging Het
Camta1 A G 4: 151,144,692 L561P probably damaging Het
Car15 T C 16: 17,837,854 Y27C probably damaging Het
Catsper1 G T 19: 5,339,479 S474I probably damaging Het
Cps1 A G 1: 67,195,145 D897G probably benign Het
Crtc1 A G 8: 70,387,603 L540P probably damaging Het
Fdps A G 3: 89,094,442 probably benign Het
Gprc6a A G 10: 51,615,430 I741T probably damaging Het
Hdac7 A C 15: 97,811,442 M47R possibly damaging Het
Kalrn T C 16: 34,175,722 probably benign Het
Kat14 C A 2: 144,406,620 probably null Het
Kcnu1 T C 8: 25,886,768 V390A possibly damaging Het
Kdm5a T A 6: 120,399,016 Y578N probably damaging Het
Lrp1b T C 2: 41,110,751 probably benign Het
Mpc2 G T 1: 165,479,523 A98S probably benign Het
Nek10 T C 14: 14,850,957 I334T probably damaging Het
Nufip2 T A 11: 77,692,370 V370E possibly damaging Het
Nup160 C A 2: 90,684,012 Y101* probably null Het
Obscn T A 11: 59,028,889 Y6174F probably damaging Het
Omp A T 7: 98,145,282 I46N probably benign Het
Pctp A G 11: 89,988,726 V103A probably damaging Het
Pla2r1 A G 2: 60,479,470 Y590H probably damaging Het
Ppfibp2 T C 7: 107,744,301 probably null Het
Reln G A 5: 21,919,021 T2829M probably benign Het
Sh3yl1 T A 12: 30,939,564 probably benign Het
Sipa1l3 A T 7: 29,348,687 Y210N probably damaging Het
Slc33a1 C A 3: 63,943,412 C497F probably damaging Het
Srp9 G A 1: 182,131,337 C25Y probably damaging Het
Traf4 C A 11: 78,165,400 R14L possibly damaging Het
Usf3 C A 16: 44,212,637 probably null Het
Vmn2r85 T C 10: 130,418,821 T665A probably benign Het
Vps13a C T 19: 16,743,007 A405T probably damaging Het
Zan A T 5: 137,414,342 probably benign Het
Zcchc6 A T 13: 59,785,800 I894K probably damaging Het
Other mutations in Pcbp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01484:Pcbp4 APN 9 106460649 critical splice acceptor site probably null
R1688:Pcbp4 UTSW 9 106461334 missense probably damaging 1.00
R2211:Pcbp4 UTSW 9 106460734 missense probably benign 0.28
R3894:Pcbp4 UTSW 9 106461371 missense possibly damaging 0.82
R4729:Pcbp4 UTSW 9 106460730 missense probably damaging 1.00
R4884:Pcbp4 UTSW 9 106462102 missense probably benign 0.03
R5007:Pcbp4 UTSW 9 106462093 missense probably damaging 1.00
R5112:Pcbp4 UTSW 9 106460718 missense probably damaging 1.00
R6050:Pcbp4 UTSW 9 106462223 missense probably benign 0.41
R6747:Pcbp4 UTSW 9 106460648 splice site probably null
X0027:Pcbp4 UTSW 9 106462583 missense probably damaging 1.00
Posted On2013-10-07