Incidental Mutation 'R6574:Ptbp2'
ID 523342
Institutional Source Beutler Lab
Gene Symbol Ptbp2
Ensembl Gene ENSMUSG00000028134
Gene Name polypyrimidine tract binding protein 2
Synonyms brPTB
MMRRC Submission 044698-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6574 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 119512391-119578115 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 119541596 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Proline at position 147 (Q147P)
Ref Sequence ENSEMBL: ENSMUSP00000143281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029780] [ENSMUST00000197464] [ENSMUST00000197833] [ENSMUST00000200097]
AlphaFold Q91Z31
Predicted Effect probably benign
Transcript: ENSMUST00000029780
AA Change: Q147P

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000029780
Gene: ENSMUSG00000028134
AA Change: Q147P

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 damaging
Transcript: ENSMUST00000197464
AA Change: Q147P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000143281
Gene: ENSMUSG00000028134
AA Change: Q147P

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: Q147P

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000143719
Gene: ENSMUSG00000028134
AA Change: Q147P

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 noncoding transcript
Transcript: ENSMUST00000199417
Predicted Effect probably benign
Transcript: ENSMUST00000200097
AA Change: Q147P

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000143510
Gene: ENSMUSG00000028134
AA Change: Q147P

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503B20Rik A C 3: 146,356,613 (GRCm39) D98E probably benign Het
Ackr3 T C 1: 90,141,790 (GRCm39) I83T probably damaging Het
Ahnak A T 19: 8,994,411 (GRCm39) M5232L probably benign Het
Ano1 A C 7: 144,161,653 (GRCm39) probably null Het
Arap1 T A 7: 101,053,208 (GRCm39) I532N probably damaging Het
Bsn A G 9: 107,991,153 (GRCm39) V1533A possibly damaging Het
Ccdc83 T C 7: 89,875,885 (GRCm39) S329G possibly damaging Het
Ccno T A 13: 113,124,719 (GRCm39) D96E probably benign Het
Cpsf1 CCCCTGCATGAGGCAGGTCCC CCCC 15: 76,481,655 (GRCm39) probably null Het
Degs1 T C 1: 182,106,638 (GRCm39) Y207C probably damaging Het
Dnah7a A T 1: 53,495,693 (GRCm39) probably null Het
Dnah9 C T 11: 66,059,107 (GRCm39) A63T probably benign Het
Eif4e1b T C 13: 54,932,711 (GRCm39) F100S probably damaging Het
Eps8 A T 6: 137,460,596 (GRCm39) Y722* probably null Het
Etfa A T 9: 55,402,910 (GRCm39) I96N probably damaging Het
Flt4 A G 11: 49,516,199 (GRCm39) T101A probably benign Het
Gabra4 A G 5: 71,781,268 (GRCm39) I381T probably benign Het
Gria2 A G 3: 80,596,603 (GRCm39) V821A probably damaging Het
Gss G T 2: 155,423,931 (GRCm39) T51K probably damaging Het
Igkv13-84 C A 6: 68,916,977 (GRCm39) Y91* probably null Het
Iqcb1 A T 16: 36,691,863 (GRCm39) Q487H probably damaging Het
Itga8 G A 2: 12,234,972 (GRCm39) H429Y probably benign Het
Myo1c T G 11: 75,547,124 (GRCm39) probably benign Het
Odad2 C A 18: 7,129,394 (GRCm39) probably null Het
Pcdhga5 T C 18: 37,828,434 (GRCm39) L294P probably damaging Het
Pkd2l2 T C 18: 34,558,134 (GRCm39) L271P probably damaging Het
Plcb2 T C 2: 118,549,654 (GRCm39) D290G probably damaging Het
Pmp22 C T 11: 63,049,099 (GRCm39) A114V probably damaging Het
Ppp1r15a T C 7: 45,173,533 (GRCm39) D425G probably benign Het
Ppp2r3d G A 9: 101,071,584 (GRCm39) P678L probably benign Het
Sez6l A G 5: 112,724,692 (GRCm39) S15P possibly damaging Het
Slc25a10 T C 11: 120,387,903 (GRCm39) F199L probably benign Het
Slc4a8 A G 15: 100,705,197 (GRCm39) N801S probably damaging Het
Sucnr1 T C 3: 59,994,020 (GRCm39) Y183H probably damaging Het
Tmem67 T C 4: 12,063,086 (GRCm39) D520G possibly damaging Het
Trgc3 G T 13: 19,445,293 (GRCm39) R80S probably benign Het
Trrap G T 5: 144,752,360 (GRCm39) probably null Het
Tubgcp5 C T 7: 55,473,331 (GRCm39) P803L probably benign Het
Ubash3a A T 17: 31,451,370 (GRCm39) Q423L probably damaging Het
Ucp1 G A 8: 84,020,718 (GRCm39) probably null Het
Vmn2r94 G T 17: 18,476,421 (GRCm39) N425K probably damaging Het
Vps52 A G 17: 34,181,452 (GRCm39) M418V probably null Het
Other mutations in Ptbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01294:Ptbp2 APN 3 119,541,461 (GRCm39) missense probably damaging 1.00
IGL01874:Ptbp2 APN 3 119,541,449 (GRCm39) missense probably damaging 1.00
IGL01940:Ptbp2 APN 3 119,519,764 (GRCm39) missense possibly damaging 0.46
IGL02094:Ptbp2 APN 3 119,546,589 (GRCm39) splice site probably benign
IGL02374:Ptbp2 APN 3 119,514,342 (GRCm39) splice site probably benign
IGL02523:Ptbp2 APN 3 119,534,136 (GRCm39) nonsense probably null
IGL02879:Ptbp2 APN 3 119,534,054 (GRCm39) missense probably damaging 1.00
IGL03149:Ptbp2 APN 3 119,514,074 (GRCm39) missense possibly damaging 0.86
IGL03153:Ptbp2 APN 3 119,545,593 (GRCm39) missense probably benign 0.04
IGL03391:Ptbp2 APN 3 119,514,031 (GRCm39) nonsense probably null
R0067:Ptbp2 UTSW 3 119,514,290 (GRCm39) missense probably benign 0.00
R0067:Ptbp2 UTSW 3 119,514,290 (GRCm39) missense probably benign 0.00
R0091:Ptbp2 UTSW 3 119,514,310 (GRCm39) missense probably damaging 1.00
R0396:Ptbp2 UTSW 3 119,517,847 (GRCm39) splice site probably benign
R0511:Ptbp2 UTSW 3 119,514,613 (GRCm39) missense probably benign
R0722:Ptbp2 UTSW 3 119,514,570 (GRCm39) missense possibly damaging 0.72
R1573:Ptbp2 UTSW 3 119,546,754 (GRCm39) missense probably damaging 1.00
R1907:Ptbp2 UTSW 3 119,555,398 (GRCm39) missense probably damaging 1.00
R3606:Ptbp2 UTSW 3 119,541,281 (GRCm39) missense probably damaging 1.00
R5082:Ptbp2 UTSW 3 119,546,613 (GRCm39) missense probably benign 0.06
R5575:Ptbp2 UTSW 3 119,514,438 (GRCm39) missense possibly damaging 0.86
R5575:Ptbp2 UTSW 3 119,514,432 (GRCm39) splice site probably null
R5655:Ptbp2 UTSW 3 119,517,806 (GRCm39) missense probably benign 0.44
R5836:Ptbp2 UTSW 3 119,519,746 (GRCm39) missense probably damaging 0.98
R6290:Ptbp2 UTSW 3 119,517,769 (GRCm39) missense possibly damaging 0.50
R6364:Ptbp2 UTSW 3 119,534,091 (GRCm39) missense probably damaging 1.00
R6398:Ptbp2 UTSW 3 119,514,484 (GRCm39) missense probably benign 0.23
R7037:Ptbp2 UTSW 3 119,545,557 (GRCm39) missense probably damaging 1.00
R7243:Ptbp2 UTSW 3 119,546,761 (GRCm39) missense possibly damaging 0.47
R7718:Ptbp2 UTSW 3 119,514,637 (GRCm39) missense probably null 1.00
R8182:Ptbp2 UTSW 3 119,534,078 (GRCm39) missense probably damaging 0.99
R8443:Ptbp2 UTSW 3 119,541,467 (GRCm39) missense probably damaging 1.00
R9110:Ptbp2 UTSW 3 119,541,258 (GRCm39) missense possibly damaging 0.69
R9164:Ptbp2 UTSW 3 119,546,640 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- GCAAATGACACTTACTTGGTGAAG -3'
(R):5'- AGTCCATTTCCTGTAGTGTGCC -3'

Sequencing Primer
(F):5'- GACACTTACTTGGTGAAGGACATC -3'
(R):5'- GCCTGTTTCATAGAGGGGATAATG -3'
Posted On 2018-06-22