Incidental Mutation 'R4688:Ptbp1'
ID 353877
Institutional Source Beutler Lab
Gene Symbol Ptbp1
Ensembl Gene ENSMUSG00000006498
Gene Name polypyrimidine tract binding protein 1
Synonyms Ptb, hnRNP I
MMRRC Submission 041939-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4688 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 79690502-79700269 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 79692342 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 5 (V5F)
Ref Sequence ENSEMBL: ENSMUSP00000127507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057343] [ENSMUST00000095457] [ENSMUST00000165704] [ENSMUST00000165724] [ENSMUST00000169483] [ENSMUST00000171599] [ENSMUST00000172282] [ENSMUST00000167250] [ENSMUST00000168683]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000057343
AA Change: V5F

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000059481
Gene: ENSMUSG00000006498
AA Change: V5F

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 benign
Transcript: ENSMUST00000095457
AA Change: V5F

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000093109
Gene: ENSMUSG00000006498
AA Change: V5F

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: ENSMUST00000165153
Predicted Effect probably benign
Transcript: ENSMUST00000165704
AA Change: V5F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000127783
Gene: ENSMUSG00000006498
AA Change: V5F

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: ENSMUST00000168988
Predicted Effect possibly damaging
Transcript: ENSMUST00000169483
AA Change: V5F

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000127507
Gene: ENSMUSG00000006498
AA Change: V5F

DomainStartEndE-ValueType
low complexity region 32 38 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171599
AA Change: V60F

PolyPhen 2 Score 0.249 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000131296
Gene: ENSMUSG00000006498
AA Change: V60F

DomainStartEndE-ValueType
low complexity region 87 93 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172282
AA Change: V5F

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000126192
Gene: ENSMUSG00000006498
AA Change: V5F

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: ENSMUST00000168216
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168521
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171216
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: ENSMUST00000217802
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
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik A G 6: 83,139,680 (GRCm39) N535S probably damaging Het
Abcc12 T C 8: 87,275,323 (GRCm39) S452G possibly damaging Het
Acacb C A 5: 114,342,824 (GRCm39) Q897K probably benign Het
Acot3 C A 12: 84,100,691 (GRCm39) R145S probably damaging Het
Ankrd54 A T 15: 78,938,782 (GRCm39) Y247N probably damaging Het
Arl11 G A 14: 61,548,546 (GRCm39) V119I probably benign Het
Atosb A G 4: 43,034,663 (GRCm39) F352S probably damaging Het
Atxn7 T A 14: 14,089,288 (GRCm38) M268K probably benign Het
Bms1 G A 6: 118,369,667 (GRCm39) R934C probably damaging Het
Brd10 A G 19: 29,694,501 (GRCm39) I1664T probably benign Het
Chrnb3 T C 8: 27,884,147 (GRCm39) S295P probably damaging Het
Cic TCCCCC TCCCCCCC 7: 24,991,095 (GRCm39) probably null Het
Cnr1 A T 4: 33,944,571 (GRCm39) I320F probably benign Het
Cntn4 C T 6: 106,414,910 (GRCm39) P147L probably damaging Het
Col24a1 G A 3: 145,020,144 (GRCm39) V172I probably benign Het
Col9a3 A G 2: 180,249,424 (GRCm39) D262G probably damaging Het
Csrnp2 A G 15: 100,380,241 (GRCm39) V350A probably damaging Het
D630045J12Rik A G 6: 38,173,592 (GRCm39) V192A possibly damaging Het
Deptor A G 15: 55,072,177 (GRCm39) M219V probably benign Het
Dmrtb1 A T 4: 107,541,247 (GRCm39) L38Q probably damaging Het
Dvl2 G A 11: 69,898,344 (GRCm39) R367Q possibly damaging Het
Dync1h1 T G 12: 110,621,962 (GRCm39) I3435S probably damaging Het
Ecpas A G 4: 58,840,757 (GRCm39) V667A probably damaging Het
Eif2b3 A G 4: 116,916,046 (GRCm39) N218D probably benign Het
Epha2 A G 4: 141,046,292 (GRCm39) D497G probably benign Het
Epha7 G T 4: 28,821,367 (GRCm39) L177F probably damaging Het
Fam98c C T 7: 28,854,666 (GRCm39) E147K probably damaging Het
Fbxo17 A G 7: 28,431,979 (GRCm39) T19A probably benign Het
Fbxo47 A G 11: 97,747,049 (GRCm39) F339S probably damaging Het
Frmd4a G T 2: 4,542,122 (GRCm39) V234L possibly damaging Het
Gal3st2 A G 1: 93,800,245 (GRCm39) D32G probably damaging Het
Gpr135 T C 12: 72,117,720 (GRCm39) T16A probably benign Het
Gpr160 A T 3: 30,950,835 (GRCm39) R302S probably benign Het
Hrh2 C A 13: 54,368,820 (GRCm39) N265K probably benign Het
Htatip2 C A 7: 49,423,171 (GRCm39) A242E probably damaging Het
Igfbp7 T C 5: 77,555,482 (GRCm39) Y127C probably damaging Het
Igkv16-104 A G 6: 68,402,878 (GRCm39) Q57R possibly damaging Het
Ino80c A G 18: 24,241,903 (GRCm39) S161P probably damaging Het
Itprid1 G A 6: 55,944,132 (GRCm39) probably null Het
Kcnc1 A G 7: 46,047,259 (GRCm39) D53G probably benign Het
Khdc4 T A 3: 88,593,824 (GRCm39) M71K probably damaging Het
Lce1h G T 3: 92,670,874 (GRCm39) R93S unknown Het
Lce1k T C 3: 92,713,951 (GRCm39) S78G unknown Het
Lhcgr T A 17: 89,072,580 (GRCm39) I156F probably damaging Het
Lpl T C 8: 69,352,077 (GRCm39) Y343H probably damaging Het
Lrp6 G T 6: 134,456,706 (GRCm39) R853S probably damaging Het
Lrrc7 A G 3: 157,854,242 (GRCm39) V1322A probably damaging Het
Lrrc74a C T 12: 86,784,472 (GRCm39) Q67* probably null Het
Megf6 A T 4: 154,338,271 (GRCm39) D447V probably damaging Het
Mep1a T C 17: 43,793,139 (GRCm39) D355G possibly damaging Het
Ncoa1 T C 12: 4,365,781 (GRCm39) D95G probably benign Het
Npepl1 A T 2: 173,956,235 (GRCm39) I139F possibly damaging Het
Nrcam T C 12: 44,594,020 (GRCm39) S262P probably benign Het
Nrp1 A G 8: 129,229,047 (GRCm39) N842D probably benign Het
Olfml3 A G 3: 103,639,497 (GRCm39) probably benign Het
Or1x6 A G 11: 50,939,815 (GRCm39) R294G probably damaging Het
Or4b1d T A 2: 89,969,343 (GRCm39) N47Y possibly damaging Het
Or6b6 T A 7: 106,571,068 (GRCm39) Y161F probably benign Het
Or6c204 G A 10: 129,022,514 (GRCm39) P259S probably damaging Het
Or6k8-ps1 T C 1: 173,979,162 (GRCm39) Y27H possibly damaging Het
Or8b3b A G 9: 38,584,659 (GRCm39) L27P probably damaging Het
Or9i1b A T 19: 13,896,605 (GRCm39) T74S probably benign Het
Pde2a A G 7: 101,152,041 (GRCm39) N316S probably benign Het
Pde4dip T A 3: 97,750,993 (GRCm39) R74* probably null Het
Pex13 A T 11: 23,605,472 (GRCm39) W253R possibly damaging Het
Piezo1 A T 8: 123,215,278 (GRCm39) W1444R probably damaging Het
Pla2g4e T C 2: 119,998,414 (GRCm39) K843R possibly damaging Het
Plxna2 C T 1: 194,326,753 (GRCm39) P229L probably damaging Het
Prelid3b G T 2: 174,308,592 (GRCm39) T131K probably benign Het
Pros1 T C 16: 62,709,370 (GRCm39) probably null Het
Prrc2c G T 1: 162,525,256 (GRCm39) P450Q unknown Het
Ptk2 T A 15: 73,078,074 (GRCm39) L997F probably damaging Het
Rims1 G T 1: 22,518,528 (GRCm39) S525* probably null Het
Sanbr A G 11: 23,543,449 (GRCm39) S530P probably benign Het
Sh2b3 T A 5: 121,956,697 (GRCm39) D318V probably benign Het
Slc16a13 A T 11: 70,111,101 (GRCm39) I88N probably damaging Het
Slit2 T A 5: 48,414,345 (GRCm39) probably null Het
Snx10 A G 6: 51,556,918 (GRCm39) N67S probably damaging Het
Stil A G 4: 114,898,505 (GRCm39) Y1045C probably damaging Het
Stra6 A G 9: 58,042,359 (GRCm39) probably null Het
Sympk A G 7: 18,788,335 (GRCm39) S1254G probably benign Het
Syt15 G T 14: 33,950,011 (GRCm39) G377V probably damaging Het
Taar4 A T 10: 23,836,731 (GRCm39) I114F probably damaging Het
Tcaf3 G A 6: 42,570,300 (GRCm39) probably null Het
Tgm7 A T 2: 120,924,502 (GRCm39) N558K probably benign Het
Tln2 T G 9: 67,304,935 (GRCm39) M1L probably benign Het
Trim50 C T 5: 135,395,994 (GRCm39) T314I probably damaging Het
Trp53rka A T 2: 165,333,312 (GRCm39) Y192* probably null Het
Ube3b T C 5: 114,531,139 (GRCm39) V211A probably benign Het
Ush2a A G 1: 188,132,138 (GRCm39) S787G probably benign Het
Vmn1r189 T C 13: 22,286,289 (GRCm39) M183V probably damaging Het
Vps13d G T 4: 144,904,782 (GRCm39) Q115K probably benign Het
Zfp358 A G 8: 3,545,493 (GRCm39) D25G probably damaging Het
Zfp521 T G 18: 13,977,647 (GRCm39) K922T probably damaging Het
Zfp521 T A 18: 13,977,648 (GRCm39) K922* probably null Het
Zfp68 T A 5: 138,614,743 (GRCm39) K4* probably null Het
Other mutations in Ptbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01115:Ptbp1 APN 10 79,695,796 (GRCm39) splice site probably benign
IGL01335:Ptbp1 APN 10 79,698,708 (GRCm39) splice site probably null
IGL03119:Ptbp1 APN 10 79,695,458 (GRCm39) missense probably damaging 1.00
carillon UTSW 10 79,694,897 (GRCm39) missense probably damaging 0.98
Citi UTSW 10 79,695,766 (GRCm39) missense probably benign 0.31
R1433:Ptbp1 UTSW 10 79,699,107 (GRCm39) missense probably damaging 1.00
R2418:Ptbp1 UTSW 10 79,695,511 (GRCm39) missense probably damaging 0.98
R4222:Ptbp1 UTSW 10 79,695,047 (GRCm39) missense probably benign 0.07
R4223:Ptbp1 UTSW 10 79,695,047 (GRCm39) missense probably benign 0.07
R4224:Ptbp1 UTSW 10 79,695,047 (GRCm39) missense probably benign 0.07
R5841:Ptbp1 UTSW 10 79,695,766 (GRCm39) missense probably benign 0.31
R6961:Ptbp1 UTSW 10 79,695,111 (GRCm39) splice site probably null
R7242:Ptbp1 UTSW 10 79,692,222 (GRCm39) missense unknown
R7579:Ptbp1 UTSW 10 79,694,954 (GRCm39) missense probably benign 0.02
R8341:Ptbp1 UTSW 10 79,699,045 (GRCm39) missense probably benign
R8832:Ptbp1 UTSW 10 79,699,023 (GRCm39) missense probably damaging 1.00
R9141:Ptbp1 UTSW 10 79,694,897 (GRCm39) missense probably damaging 0.98
R9426:Ptbp1 UTSW 10 79,694,897 (GRCm39) missense probably damaging 0.98
R9465:Ptbp1 UTSW 10 79,695,615 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- CAGGAGTTGAGTTTTGACCCAGG -3'
(R):5'- TTGGACGGCAGGTCTACATG -3'

Sequencing Primer
(F):5'- CTGGTATGCTTTATAAAAACTGGGC -3'
(R):5'- CTCTGCAATAAGCAAGCC -3'
Posted On 2015-10-21