Incidental Mutation 'IGL03153:Ptbp2'
ID411160
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 #IGL03153
Quality Score
Status
Chromosome3
Chromosomal Location119718742-119784466 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 119751944 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 118 (T118A)
Ref Sequence ENSEMBL: ENSMUSP00000143281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029780] [ENSMUST00000197464] [ENSMUST00000197833] [ENSMUST00000200097]
Predicted Effect probably benign
Transcript: ENSMUST00000029780
AA Change: T118A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000029780
Gene: ENSMUSG00000028134
AA Change: T118A

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: ENSMUST00000197464
AA Change: T118A

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000143281
Gene: ENSMUSG00000028134
AA Change: T118A

DomainStartEndE-ValueType
RRM 60 129 3.8e-6 SMART
low complexity region 144 159 N/A INTRINSIC
Pfam:RRM_1 183 239 8.6e-6 PFAM
Pfam:RRM_5 197 240 1.1e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197833
AA Change: T118A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000143719
Gene: ENSMUSG00000028134
AA Change: T118A

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: ENSMUST00000198399
Predicted Effect probably benign
Transcript: ENSMUST00000200097
AA Change: T118A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000143510
Gene: ENSMUSG00000028134
AA Change: T118A

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik A G 4: 62,547,326 E419G possibly damaging Het
Abcg3 A G 5: 104,974,765 probably benign Het
Adam17 T C 12: 21,345,697 D256G probably damaging Het
Adgrb3 G A 1: 25,531,897 R500* probably null Het
Aldh3a2 A G 11: 61,258,839 Y234H probably damaging Het
Alpk3 A G 7: 81,093,395 T987A probably benign Het
Amtn A G 5: 88,384,969 K148E possibly damaging Het
Asap1 G A 15: 64,160,274 T237M probably damaging Het
Ccdc124 A T 8: 70,868,929 probably null Het
Cdon T C 9: 35,477,959 Y787H probably damaging Het
Coro7 A G 16: 4,635,382 probably null Het
Dram2 T A 3: 106,555,174 probably benign Het
Drd5 T C 5: 38,319,781 V39A probably benign Het
Ern1 A G 11: 106,410,098 L490P possibly damaging Het
Fat1 A G 8: 45,030,123 T3083A possibly damaging Het
Irgm1 A G 11: 48,866,267 I239T probably damaging Het
Klhl10 A T 11: 100,456,932 T605S probably benign Het
Lcor T A 19: 41,558,356 S126R probably damaging Het
Lgi4 G T 7: 31,060,558 V60F probably damaging Het
Lin37 G A 7: 30,557,160 R84W probably damaging Het
Lmf1 A G 17: 25,585,650 S97G possibly damaging Het
Oasl2 A G 5: 114,901,332 T194A probably benign Het
Olfr199 A G 16: 59,216,203 S137P probably benign Het
Pnpo A T 11: 96,943,835 F12I probably damaging Het
Prdm4 T C 10: 85,907,996 T132A probably benign Het
Ptf1a T A 2: 19,446,645 probably benign Het
Rev3l T A 10: 39,806,878 F331I probably damaging Het
Rfx6 C A 10: 51,723,121 S524* probably null Het
Scube3 A G 17: 28,167,058 S758G possibly damaging Het
Slc44a2 T C 9: 21,343,200 I257T probably benign Het
Spon1 A T 7: 114,030,344 I408F probably damaging Het
Srpk1 C A 17: 28,592,266 D541Y possibly damaging Het
Tenm4 A T 7: 96,873,762 I1467F probably damaging Het
Tex33 T C 15: 78,385,316 D188G probably damaging Het
Uggt1 A C 1: 36,202,818 V345G possibly damaging Het
Vmn1r23 A T 6: 57,925,932 I287K probably damaging Het
Whamm A G 7: 81,589,532 probably benign Het
Zeb1 A G 18: 5,770,511 D888G probably damaging Het
Zfp263 A G 16: 3,746,880 N253S possibly damaging Het
Zfp446 C A 7: 12,977,907 A19E probably benign 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
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
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