Incidental Mutation 'IGL01940:Ptbp2'
ID180856
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 #IGL01940
Quality Score
Status
Chromosome3
Chromosomal Location119718742-119784466 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 119726115 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 9 (V9A)
Ref Sequence ENSEMBL: ENSMUSP00000142711 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029780] [ENSMUST00000195902] [ENSMUST00000197387] [ENSMUST00000197833] [ENSMUST00000200097]
Predicted Effect probably benign
Transcript: ENSMUST00000029780
AA Change: V332A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029780
Gene: ENSMUSG00000028134
AA Change: V332A

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
AA Change: V101A

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000143325
Gene: ENSMUSG00000028134
AA Change: V101A

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 possibly damaging
Transcript: ENSMUST00000197387
AA Change: V9A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000197833
AA Change: V332A

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000143719
Gene: ENSMUSG00000028134
AA Change: V332A

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: ENSMUST00000198540
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198733
Predicted Effect probably benign
Transcript: ENSMUST00000200097
AA Change: V332A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143510
Gene: ENSMUSG00000028134
AA Change: V332A

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,567,661 probably benign Het
Ahnak A T 19: 9,006,557 D1735V probably benign Het
Alkbh3 G A 2: 93,981,595 T231I probably damaging Het
Ap4e1 T C 2: 127,043,511 V344A probably damaging Het
Brip1 T A 11: 86,064,966 D907V probably benign Het
Clca3a1 A T 3: 144,746,976 M582K probably benign Het
Csf2 G T 11: 54,249,525 P29H probably damaging Het
Cyp2d26 C T 15: 82,792,557 R196H probably benign Het
Dagla A G 19: 10,252,171 V575A probably benign Het
Dimt1 T A 13: 106,948,698 probably benign Het
Ei24 A T 9: 36,782,391 F288L probably damaging Het
Fam107a T C 14: 8,298,766 H120R probably benign Het
Fancl G T 11: 26,459,752 V203F probably damaging Het
Fgd6 T A 10: 94,089,650 probably null Het
Flrt2 A G 12: 95,780,238 Y450C probably damaging Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Ift122 A G 6: 115,887,371 probably benign Het
Kcnk13 A G 12: 100,061,424 S253G probably benign Het
Lcp1 A T 14: 75,216,365 N469I probably benign Het
Lrrc24 T C 15: 76,716,057 Y294C probably damaging Het
Odam C A 5: 87,887,333 S52Y possibly damaging Het
Olfr1243 T A 2: 89,527,810 N200I probably damaging Het
Olfr128 C T 17: 37,924,286 T240I probably damaging Het
Olfr641 A G 7: 104,039,922 N42S probably damaging Het
Pkd1 G T 17: 24,579,746 R2676L possibly damaging Het
Plec T C 15: 76,180,329 D1915G probably damaging Het
Ptk2b A G 14: 66,158,613 I802T probably benign Het
Rabgap1 G T 2: 37,487,067 A304S probably damaging Het
Sema3f T C 9: 107,683,697 probably benign Het
Serpinb3a A T 1: 107,046,185 V332E probably damaging Het
Skil T A 3: 31,111,644 M370K probably benign Het
Slc25a1 T A 16: 17,926,440 Y209F probably benign Het
Smim15 A G 13: 108,047,630 K57E probably damaging Het
Taar3 T A 10: 23,949,957 C134S probably damaging Het
Tns4 C T 11: 99,068,221 S684N probably benign Het
Vmn2r58 A G 7: 41,837,647 V608A probably benign Het
Zbtb26 A T 2: 37,435,975 C350S possibly 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
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
IGL03391:Ptbp2 APN 3 119720382 nonsense probably null
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
Posted On2014-05-07