Incidental Mutation 'IGL03119:Ptbp1'
ID 409924
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptbp1
Ensembl Gene ENSMUSG00000006498
Gene Name polypyrimidine tract binding protein 1
Synonyms Ptb, hnRNP I
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03119
Quality Score
Status
Chromosome 10
Chromosomal Location 79854427-79864771 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79859624 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 209 (V209A)
Ref Sequence ENSEMBL: ENSMUSP00000126192 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057343] [ENSMUST00000095457] [ENSMUST00000165704] [ENSMUST00000165724] [ENSMUST00000167250] [ENSMUST00000172282] [ENSMUST00000169483] [ENSMUST00000171599] [ENSMUST00000168683]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000057343
AA Change: V209A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000059481
Gene: ENSMUSG00000006498
AA Change: V209A

DomainStartEndE-ValueType
low complexity region 32 38 N/A INTRINSIC
RRM 59 128 9.8e-9 SMART
low complexity region 161 178 N/A INTRINSIC
RRM 184 253 4.75e-7 SMART
low complexity region 305 330 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000095457
AA Change: V169A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000093109
Gene: ENSMUSG00000006498
AA Change: V169A

DomainStartEndE-ValueType
Pfam:RRM_6 36 86 1.9e-5 PFAM
Pfam:RRM_5 38 90 3.6e-12 PFAM
low complexity region 121 138 N/A INTRINSIC
RRM 144 213 4.75e-7 SMART
low complexity region 265 290 N/A INTRINSIC
RRM 296 365 1.84e-13 SMART
RRM 413 483 2.6e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000099958
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164385
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165153
Predicted Effect probably damaging
Transcript: ENSMUST00000165704
AA Change: V209A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000127783
Gene: ENSMUSG00000006498
AA Change: V209A

DomainStartEndE-ValueType
low complexity region 32 38 N/A INTRINSIC
RRM 59 128 9.8e-9 SMART
low complexity region 161 178 N/A INTRINSIC
RRM 184 253 4.75e-7 SMART
low complexity region 305 330 N/A INTRINSIC
RRM 336 405 1.84e-13 SMART
RRM 453 523 2.6e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165724
SMART Domains Protein: ENSMUSP00000130749
Gene: ENSMUSG00000006498

DomainStartEndE-ValueType
Pfam:RRM_5 2 40 5.3e-7 PFAM
low complexity region 114 139 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166593
Predicted Effect probably benign
Transcript: ENSMUST00000167250
SMART Domains Protein: ENSMUSP00000130695
Gene: ENSMUSG00000035835

DomainStartEndE-ValueType
transmembrane domain 17 39 N/A INTRINSIC
transmembrane domain 69 91 N/A INTRINSIC
acidPPc 132 276 1.38e-16 SMART
low complexity region 437 454 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168216
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168521
Predicted Effect probably damaging
Transcript: ENSMUST00000172282
AA Change: V209A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126192
Gene: ENSMUSG00000006498
AA Change: V209A

DomainStartEndE-ValueType
low complexity region 32 38 N/A INTRINSIC
RRM 59 128 9.8e-9 SMART
low complexity region 161 178 N/A INTRINSIC
RRM 184 253 4.75e-7 SMART
low complexity region 331 356 N/A INTRINSIC
RRM 362 431 1.84e-13 SMART
RRM 479 549 2.6e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171216
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168988
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169580
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184090
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217802
Predicted Effect probably benign
Transcript: ENSMUST00000169483
SMART Domains Protein: ENSMUSP00000127507
Gene: ENSMUSG00000006498

DomainStartEndE-ValueType
low complexity region 32 38 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171599
SMART Domains Protein: ENSMUSP00000131296
Gene: ENSMUSG00000006498

DomainStartEndE-ValueType
low complexity region 87 93 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168683
SMART Domains Protein: ENSMUSP00000132383
Gene: ENSMUSG00000006498

DomainStartEndE-ValueType
low complexity region 2 8 N/A INTRINSIC
SCOP:d2u1a__ 17 55 3e-3 SMART
PDB:2AD9|A 18 55 9e-19 PDB
Blast:RRM 29 55 2e-11 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000169091
SMART Domains Protein: ENSMUSP00000128449
Gene: ENSMUSG00000006498

DomainStartEndE-ValueType
low complexity region 13 19 N/A INTRINSIC
Pfam:RRM_5 29 81 3.5e-12 PFAM
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 belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA-binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has four repeats of quasi-RNA recognition motif (RRM) domains that bind RNAs. This protein binds to the intronic polypyrimidine tracts that requires pre-mRNA splicing and acts via the protein degradation ubiquitin-proteasome pathway. It may also promote the binding of U2 snRNP to pre-mRNAs. This protein is localized in the nucleoplasm and it is also detected in the perinucleolar structure. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele die before E6.5. Mice homozygous for a conditional allele activated in neuronal stem cells (NSCs) exhibit premature death, and non-obstructive hydrocephaly with loss of ependymal cells due to precocious NSC differentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,714,887 (GRCm38) T626A probably benign Het
Adcy1 C T 11: 7,109,051 (GRCm38) T319I probably damaging Het
Adgrv1 A C 13: 81,433,700 (GRCm38) C4742G probably benign Het
Adgrv1 A G 13: 81,382,373 (GRCm38) S5861P probably damaging Het
Arid5b A T 10: 68,243,227 (GRCm38) D93E probably damaging Het
Atp6v1h A G 1: 5,095,669 (GRCm38) T121A probably benign Het
Atxn7 C T 14: 14,100,734 (GRCm38) L807F probably damaging Het
Cep104 A C 4: 153,981,724 (GRCm38) K126N probably damaging Het
Dcaf6 T C 1: 165,339,976 (GRCm38) E708G probably damaging Het
Dst A G 1: 34,161,062 (GRCm38) Y107C probably damaging Het
E2f3 A G 13: 29,985,365 (GRCm38) S102P probably benign Het
Eif3e A C 15: 43,265,604 (GRCm38) S207A probably benign Het
Etl4 A G 2: 20,713,387 (GRCm38) Y313C probably damaging Het
Fyttd1 T C 16: 32,900,695 (GRCm38) V121A probably benign Het
Gstk1 T C 6: 42,249,899 (GRCm38) S200P probably damaging Het
Ifrd1 A T 12: 40,212,334 (GRCm38) F244L probably null Het
Ints7 T C 1: 191,610,365 (GRCm38) V491A probably damaging Het
Kcnd2 G T 6: 21,216,509 (GRCm38) E71* probably null Het
Ltbp3 A T 19: 5,757,443 (GRCm38) Q1123L probably damaging Het
Myo5a A G 9: 75,174,015 (GRCm38) T961A probably benign Het
Naa25 T A 5: 121,434,978 (GRCm38) V720E probably null Het
Olfr1480 T C 19: 13,530,435 (GRCm38) I298T probably benign Het
Olfr599 A G 7: 103,338,722 (GRCm38) I223V probably damaging Het
Pcdhb15 C A 18: 37,475,014 (GRCm38) T433N probably damaging Het
Peli1 T C 11: 21,140,560 (GRCm38) probably benign Het
Ranbp2 A G 10: 58,452,003 (GRCm38) Y31C probably damaging Het
Smg1 G A 7: 118,195,113 (GRCm38) probably benign Het
Stat2 A G 10: 128,283,517 (GRCm38) M457V probably benign Het
Trpm6 G T 19: 18,838,017 (GRCm38) E1156* probably null Het
Usp53 T A 3: 122,961,415 (GRCm38) R130S possibly damaging Het
Vwa5b1 A G 4: 138,606,541 (GRCm38) S193P probably benign Het
Xrn2 A G 2: 147,042,872 (GRCm38) I626V probably damaging Het
Zfp574 G A 7: 25,080,473 (GRCm38) A307T probably benign Het
Other mutations in Ptbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01115:Ptbp1 APN 10 79,859,962 (GRCm38) splice site probably benign
IGL01335:Ptbp1 APN 10 79,862,874 (GRCm38) splice site probably null
carillon UTSW 10 79,859,063 (GRCm38) missense probably damaging 0.98
Citi UTSW 10 79,859,932 (GRCm38) missense probably benign 0.31
R1433:Ptbp1 UTSW 10 79,863,273 (GRCm38) missense probably damaging 1.00
R2418:Ptbp1 UTSW 10 79,859,677 (GRCm38) missense probably damaging 0.98
R4222:Ptbp1 UTSW 10 79,859,213 (GRCm38) missense probably benign 0.07
R4223:Ptbp1 UTSW 10 79,859,213 (GRCm38) missense probably benign 0.07
R4224:Ptbp1 UTSW 10 79,859,213 (GRCm38) missense probably benign 0.07
R4688:Ptbp1 UTSW 10 79,856,508 (GRCm38) missense possibly damaging 0.87
R5841:Ptbp1 UTSW 10 79,859,932 (GRCm38) missense probably benign 0.31
R6961:Ptbp1 UTSW 10 79,859,277 (GRCm38) splice site probably null
R7242:Ptbp1 UTSW 10 79,856,388 (GRCm38) missense unknown
R7579:Ptbp1 UTSW 10 79,859,120 (GRCm38) missense probably benign 0.02
R8341:Ptbp1 UTSW 10 79,863,211 (GRCm38) missense probably benign
R8832:Ptbp1 UTSW 10 79,863,189 (GRCm38) missense probably damaging 1.00
R9141:Ptbp1 UTSW 10 79,859,063 (GRCm38) missense probably damaging 0.98
R9426:Ptbp1 UTSW 10 79,859,063 (GRCm38) missense probably damaging 0.98
R9465:Ptbp1 UTSW 10 79,859,781 (GRCm38) missense possibly damaging 0.93
Posted On 2016-08-02