Incidental Mutation 'IGL03391:Ptbp2'
ID421055
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptbp2
Ensembl Gene ENSMUSG00000028134
Gene Namepolypyrimidine tract binding protein 2
SynonymsbrPTB
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03391
Quality Score
Status
Chromosome3
Chromosomal Location119718742-119784466 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 119720382 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 514 (Y514*)
Ref Sequence ENSEMBL: ENSMUSP00000143510 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029780] [ENSMUST00000195902] [ENSMUST00000197387] [ENSMUST00000197833] [ENSMUST00000200097]
Predicted Effect probably null
Transcript: ENSMUST00000029780
AA Change: Y515*
SMART Domains Protein: ENSMUSP00000029780
Gene: ENSMUSG00000028134
AA Change: Y515*

DomainStartEndE-ValueType
RRM 60 129 3.8e-6 SMART
low complexity region 144 159 N/A INTRINSIC
RRM 182 251 1.22e-4 SMART
low complexity region 285 295 N/A INTRINSIC
RRM 339 408 1.07e-9 SMART
RRM 456 526 1.99e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000195902
SMART Domains Protein: ENSMUSP00000143325
Gene: ENSMUSG00000028134

DomainStartEndE-ValueType
Blast:RRM_2 1 48 7e-25 BLAST
PDB:1SJR|A 1 48 3e-27 PDB
low complexity region 49 59 N/A INTRINSIC
Pfam:RRM_1 109 154 1.9e-4 PFAM
Pfam:RRM_6 109 155 1.4e-6 PFAM
Pfam:RRM_5 124 155 2.6e-5 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196203
Predicted Effect probably benign
Transcript: ENSMUST00000197387
Predicted Effect probably benign
Transcript: ENSMUST00000197833
SMART Domains Protein: ENSMUSP00000143719
Gene: ENSMUSG00000028134

DomainStartEndE-ValueType
RRM 60 129 1.7e-8 SMART
low complexity region 144 159 N/A INTRINSIC
RRM 182 251 5.2e-7 SMART
low complexity region 285 295 N/A INTRINSIC
PDB:2MJU|A 325 349 4e-7 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198733
Predicted Effect probably null
Transcript: ENSMUST00000200097
AA Change: Y514*
SMART Domains Protein: ENSMUSP00000143510
Gene: ENSMUSG00000028134
AA Change: Y514*

DomainStartEndE-ValueType
RRM 60 129 3.8e-6 SMART
low complexity region 144 159 N/A INTRINSIC
RRM 182 251 1.22e-4 SMART
low complexity region 285 295 N/A INTRINSIC
RRM 339 408 1.07e-9 SMART
RRM 456 525 8.08e-10 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene binds to intronic polypyrimidine clusters in pre-mRNA molecules and is implicated in controlling the assembly of other splicing-regulatory proteins. This protein is very similar to the polypyrimidine tract binding protein (PTB) but most of its isoforms are expressed primarily in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a null mutation display neonatal lethality with premature neurogenesis and abnormal neural stem cell polarity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 120,246,884 D586G probably damaging Het
Acadvl A C 11: 70,010,716 M557R probably damaging Het
Ano2 T A 6: 125,807,839 N327K probably damaging Het
Cdh11 A T 8: 102,674,023 D104E possibly damaging Het
Chrnb2 A G 3: 89,760,877 F377S probably damaging Het
Cngb1 T C 8: 95,303,705 probably benign Het
Dnaaf1 C T 8: 119,582,616 R148C probably damaging Het
Esrrg A T 1: 188,150,223 I226F possibly damaging Het
Evl C A 12: 108,676,099 probably null Het
Gpam T C 19: 55,081,696 E376G probably damaging Het
Gzf1 C A 2: 148,683,683 R25S probably damaging Het
Ighv5-2 A T 12: 113,578,518 Y113* probably null Het
Izumo4 A G 10: 80,705,113 T216A probably damaging Het
Lrp1b T G 2: 41,295,641 Y1354S possibly damaging Het
Mark1 A G 1: 184,919,435 probably benign Het
Mylpf A G 7: 127,213,177 I17V probably benign Het
Myo18b C A 5: 112,874,479 probably benign Het
Nbas C T 12: 13,483,749 A1795V probably benign Het
Olfr1134 A G 2: 87,656,688 S78P possibly damaging Het
Olfr1484 A G 19: 13,586,119 M272V probably benign Het
Olfr697 A T 7: 106,741,755 Y60N probably damaging Het
Oprm1 A C 10: 7,014,077 probably benign Het
Parp14 T C 16: 35,858,270 M443V probably benign Het
Psca T C 15: 74,714,868 F5S probably benign Het
Scg3 A G 9: 75,661,251 probably null Het
Scn2a T C 2: 65,764,213 V1802A probably damaging Het
Serpinb3a A G 1: 107,046,342 S280P possibly damaging Het
Slc39a14 T C 14: 70,309,842 I352V probably damaging Het
Slc6a2 G T 8: 92,961,452 V69L probably damaging Het
Slc8a1 A G 17: 81,432,638 probably benign Het
Tjp1 T C 7: 65,314,969 D818G probably damaging Het
Tnfaip8 T C 18: 50,090,485 V120A probably damaging Het
Trmt5 G A 12: 73,281,452 H326Y probably benign Het
Vmn1r222 T C 13: 23,232,462 M194V possibly damaging Het
Zbtb17 A G 4: 141,466,758 E699G probably damaging Het
Other mutations in Ptbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01294:Ptbp2 APN 3 119747812 missense probably damaging 1.00
IGL01874:Ptbp2 APN 3 119747800 missense probably damaging 1.00
IGL01940:Ptbp2 APN 3 119726115 missense possibly damaging 0.46
IGL02094:Ptbp2 APN 3 119752940 splice site probably benign
IGL02374:Ptbp2 APN 3 119720693 splice site probably benign
IGL02523:Ptbp2 APN 3 119740487 nonsense probably null
IGL02879:Ptbp2 APN 3 119740405 missense probably damaging 1.00
IGL03149:Ptbp2 APN 3 119720425 missense possibly damaging 0.86
IGL03153:Ptbp2 APN 3 119751944 missense probably benign 0.04
R0067:Ptbp2 UTSW 3 119720641 missense probably benign 0.00
R0067:Ptbp2 UTSW 3 119720641 missense probably benign 0.00
R0091:Ptbp2 UTSW 3 119720661 missense probably damaging 1.00
R0396:Ptbp2 UTSW 3 119724198 splice site probably benign
R0511:Ptbp2 UTSW 3 119720964 missense probably benign
R0722:Ptbp2 UTSW 3 119720921 missense possibly damaging 0.72
R1573:Ptbp2 UTSW 3 119753105 missense probably damaging 1.00
R1907:Ptbp2 UTSW 3 119761749 missense probably damaging 1.00
R3606:Ptbp2 UTSW 3 119747632 missense probably damaging 1.00
R5082:Ptbp2 UTSW 3 119752964 missense probably benign 0.06
R5575:Ptbp2 UTSW 3 119720783 splice site probably null
R5575:Ptbp2 UTSW 3 119720789 missense possibly damaging 0.86
R5655:Ptbp2 UTSW 3 119724157 missense probably benign 0.44
R5836:Ptbp2 UTSW 3 119726097 missense probably damaging 0.98
R6290:Ptbp2 UTSW 3 119724120 missense possibly damaging 0.50
R6364:Ptbp2 UTSW 3 119740442 missense probably damaging 1.00
R6398:Ptbp2 UTSW 3 119720835 missense probably benign 0.23
R6574:Ptbp2 UTSW 3 119747947 missense probably damaging 0.99
R7037:Ptbp2 UTSW 3 119751908 missense probably damaging 1.00
R7243:Ptbp2 UTSW 3 119753112 missense possibly damaging 0.47
R7718:Ptbp2 UTSW 3 119720988 missense probably null 1.00
Posted On2016-08-02