Incidental Mutation 'R3894:Pcbp4'
ID310454
Institutional Source Beutler Lab
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: 0.596) question?
Stock #R3894 (G1)
Quality Score225
Status Not validated
Chromosome9
Chromosomal Location106453291-106464012 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 106461371 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 59 (Q59L)
Ref Sequence ENSEMBL: ENSMUSP00000140660 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024260] [ENSMUST00000164834] [ENSMUST00000185507] [ENSMUST00000185779] [ENSMUST00000185874] [ENSMUST00000188396] [ENSMUST00000189099] [ENSMUST00000190428] [ENSMUST00000215656] [ENSMUST00000213156] [ENSMUST00000214252] [ENSMUST00000190430] [ENSMUST00000216379]
Predicted Effect probably benign
Transcript: ENSMUST00000024260
AA Change: Q165L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000024260
Gene: ENSMUSG00000023495
AA Change: Q165L

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 benign
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 possibly damaging
Transcript: ENSMUST00000185507
AA Change: Q59L

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000140660
Gene: ENSMUSG00000023495
AA Change: Q59L

DomainStartEndE-ValueType
KH 2 65 2.4e-10 SMART
low complexity region 117 131 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000185779
AA Change: Q165L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140629
Gene: ENSMUSG00000023495
AA Change: Q165L

DomainStartEndE-ValueType
KH 16 84 2.6e-16 SMART
KH 100 171 9.3e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185831
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
SMART Domains Protein: ENSMUSP00000139771
Gene: ENSMUSG00000023495

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
AA Change: Q25L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000139587
Gene: ENSMUSG00000023495
AA Change: Q25L

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 noncoding transcript
Transcript: ENSMUST00000190799
Predicted Effect probably benign
Transcript: ENSMUST00000215656
AA Change: Q126L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
Predicted Effect probably benign
Transcript: ENSMUST00000213156
AA Change: Q58L

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect unknown
Transcript: ENSMUST00000213201
AA Change: Q48L
Predicted Effect unknown
Transcript: ENSMUST00000213752
AA Change: Q1L
Predicted Effect probably benign
Transcript: ENSMUST00000214252
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: ENSMUST00000217405
Predicted Effect probably benign
Transcript: ENSMUST00000216379
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt1s1 A G 7: 44,853,939 D180G probably damaging Het
Aldh1a7 A T 19: 20,696,398 Y457* probably null Het
Alpk3 C T 7: 81,078,390 P423S possibly damaging Het
Aox2 A T 1: 58,334,678 probably null Het
Crebbp T C 16: 4,096,102 T1316A probably benign Het
Cul3 C A 1: 80,283,690 V273F probably damaging Het
Dnah1 G T 14: 31,307,028 R582S probably benign Het
Fbxl2 T C 9: 114,003,193 N51S probably damaging Het
Gapvd1 T C 2: 34,728,476 D295G probably benign Het
Gdf7 A G 12: 8,298,845 S151P unknown Het
Gm10277 T C 11: 77,786,001 probably benign Het
Hdac4 T C 1: 91,970,968 E688G possibly damaging Het
Htr1d A G 4: 136,443,237 E259G probably benign Het
Ifi204 T C 1: 173,749,208 H609R possibly damaging Het
Ift80 T C 3: 68,917,999 D541G probably damaging Het
Il18r1 A T 1: 40,474,874 H80L possibly damaging Het
Lrp4 G A 2: 91,473,949 G158S probably damaging Het
Mesd T A 7: 83,897,785 L152H probably damaging Het
Morf4l1 A T 9: 90,094,448 F276I possibly damaging Het
Mslnl G A 17: 25,742,934 V128M probably damaging Het
Mut G A 17: 40,955,139 C531Y probably damaging Het
Myo15 A G 11: 60,504,319 T2480A probably benign Het
Olfr1284 C A 2: 111,379,637 F212L probably benign Het
Olfr1317 T C 2: 112,142,014 I23T probably benign Het
Olfr1387 G A 11: 49,459,939 G87R possibly damaging Het
Olfr180 A G 16: 58,916,339 F101L probably benign Het
Olfr437 A T 6: 43,167,258 I67F probably benign Het
Ovgp1 T C 3: 105,986,567 probably benign Het
Ovgp1 A G 3: 105,986,596 probably benign Het
Prg4 G C 1: 150,454,759 probably benign Het
Rad50 T A 11: 53,678,870 I905L probably benign Het
Rp1l1 T C 14: 64,029,307 S781P probably benign Het
Rps3 C T 7: 99,479,896 R173H probably benign Het
Rtn3 T A 19: 7,435,085 T86S probably damaging Het
Sdha A T 13: 74,334,391 S268T probably benign Het
Sgo2b A T 8: 63,928,733 V355E possibly damaging Het
Sh3glb2 T C 2: 30,355,288 T60A probably damaging Het
Slc26a3 A C 12: 31,464,720 Y513S probably damaging Het
Slc35b2 T C 17: 45,566,442 V165A probably benign Het
Slco3a1 A G 7: 74,284,613 W604R probably damaging Het
Tet2 A G 3: 133,469,477 S1370P possibly damaging Het
Tmtc4 A T 14: 122,921,319 probably null Het
Tsga13 A G 6: 30,912,263 V18A probably benign Het
Ugt2a3 T C 5: 87,329,590 T317A probably benign Het
Zcchc4 A T 5: 52,784,100 D79V probably damaging Het
Other mutations in Pcbp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01361:Pcbp4 APN 9 106463249 splice site probably null
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
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
R8381:Pcbp4 UTSW 9 106461289 missense probably damaging 1.00
X0027:Pcbp4 UTSW 9 106462583 missense probably damaging 1.00
Predicted Primers
Posted On2015-04-17