Incidental Mutation 'R7718:Ptbp2'
ID 595015
Institutional Source Beutler Lab
Gene Symbol Ptbp2
Ensembl Gene ENSMUSG00000028134
Gene Name polypyrimidine tract binding protein 2
Synonyms brPTB
MMRRC Submission 045775-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7718 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 119512391-119578115 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 119514637 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 397 (G397R)
Ref Sequence ENSEMBL: ENSMUSP00000029780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029780] [ENSMUST00000195902] [ENSMUST00000197387] [ENSMUST00000197833] [ENSMUST00000200097]
AlphaFold Q91Z31
Predicted Effect probably null
Transcript: ENSMUST00000029780
AA Change: G397R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029780
Gene: ENSMUSG00000028134
AA Change: G397R

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
SMART Domains Protein: ENSMUSP00000143325
Gene: ENSMUSG00000028134

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 probably benign
Transcript: ENSMUST00000197387
Predicted Effect probably benign
Transcript: ENSMUST00000197833
SMART Domains Protein: ENSMUSP00000143719
Gene: ENSMUSG00000028134

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 probably null
Transcript: ENSMUST00000200097
AA Change: G397R

PolyPhen 2 Score 0.489 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000143510
Gene: ENSMUSG00000028134
AA Change: G397R

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (77/78)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik A T 5: 138,646,122 (GRCm39) H669L possibly damaging Het
Abcb1a A T 5: 8,765,788 (GRCm39) N700I probably damaging Het
Abcc6 T C 7: 45,626,816 (GRCm39) K1414E possibly damaging Het
Adcy5 T C 16: 35,100,785 (GRCm39) V779A probably benign Het
Agap2 A G 10: 126,915,734 (GRCm39) S82G possibly damaging Het
Aldh1l1 A G 6: 90,575,305 (GRCm39) N864S probably damaging Het
Ang2 A T 14: 51,433,217 (GRCm39) V55E probably benign Het
Ank2 A G 3: 126,758,662 (GRCm39) M179T possibly damaging Het
Atrnl1 T A 19: 57,728,615 (GRCm39) C1090* probably null Het
Atxn1l A G 8: 110,459,866 (GRCm39) L132P probably damaging Het
Bptf A G 11: 106,972,282 (GRCm39) V862A possibly damaging Het
Capn11 C A 17: 45,954,707 (GRCm39) K143N probably damaging Het
Card6 A G 15: 5,129,269 (GRCm39) V709A possibly damaging Het
Cavin4 C T 4: 48,671,984 (GRCm39) A143V probably benign Het
Cntn5 A G 9: 9,984,133 (GRCm39) I160T probably benign Het
Cyp2c40 T A 19: 39,755,782 (GRCm39) N511Y probably benign Het
Dsc2 A T 18: 20,174,835 (GRCm39) I480N probably damaging Het
Elf2 G T 3: 51,173,385 (GRCm39) probably benign Het
Enoph1 T C 5: 100,210,019 (GRCm39) V133A possibly damaging Het
Ezh2 A T 6: 47,531,125 (GRCm39) D186E probably benign Het
Fcgbpl1 T C 7: 27,846,626 (GRCm39) F1106S probably damaging Het
Gfra1 T C 19: 58,441,889 (GRCm39) D14G possibly damaging Het
Gmip C T 8: 70,270,383 (GRCm39) R698W probably damaging Het
Grk4 A G 5: 34,852,160 (GRCm39) N135D probably benign Het
Hspb6 A G 7: 30,253,772 (GRCm39) D95G probably benign Het
Htatip2 T G 7: 49,420,632 (GRCm39) H159Q possibly damaging Het
Igfn1 T C 1: 135,896,774 (GRCm39) E1264G probably benign Het
Insyn2b T C 11: 34,352,539 (GRCm39) S194P probably benign Het
Katnb1 T A 8: 95,821,836 (GRCm39) V223E possibly damaging Het
Klra6 AGG AG 6: 129,990,315 (GRCm39) probably null Het
Masp2 C T 4: 148,687,204 (GRCm39) R29C probably damaging Het
Mcm3 A T 1: 20,887,498 (GRCm39) C123* probably null Het
Mdn1 T C 4: 32,718,420 (GRCm39) V2225A probably damaging Het
Me1 A G 9: 86,561,953 (GRCm39) L44S probably damaging Het
Mlxip A G 5: 123,583,577 (GRCm39) N380S probably benign Het
Muc21 T C 17: 35,933,728 (GRCm39) T153A unknown Het
Myh14 C T 7: 44,310,464 (GRCm39) V140I probably damaging Het
Myocd A T 11: 65,109,452 (GRCm39) D106E probably damaging Het
Oat T C 7: 132,159,988 (GRCm39) I411V probably benign Het
Or2d2 A T 7: 106,727,925 (GRCm39) V225D probably damaging Het
Or5p59 T C 7: 107,702,855 (GRCm39) V113A probably benign Het
Or8k38 A G 2: 86,488,373 (GRCm39) V143A probably benign Het
Orc2 A T 1: 58,519,476 (GRCm39) H246Q possibly damaging Het
Pank4 A G 4: 155,059,100 (GRCm39) E411G probably damaging Het
Patl2 A T 2: 121,957,255 (GRCm39) probably null Het
Pcdhb15 A G 18: 37,608,216 (GRCm39) N483D probably damaging Het
Pcdhb20 A G 18: 37,638,704 (GRCm39) D410G probably damaging Het
Pdcl2 A G 5: 76,465,846 (GRCm39) C125R probably damaging Het
Peli3 C G 19: 4,984,584 (GRCm39) probably null Het
Pkd1 A G 17: 24,805,474 (GRCm39) D3313G probably benign Het
Plec A C 15: 76,061,639 (GRCm39) M2766R probably damaging Het
Ppargc1a C T 5: 51,655,504 (GRCm39) V99M probably damaging Het
Prr35 T A 17: 26,165,998 (GRCm39) R430* probably null Het
Psg19 G A 7: 18,526,368 (GRCm39) A374V probably benign Het
Psmd7 A T 8: 108,313,261 (GRCm39) F54L possibly damaging Het
Ranbp3 A G 17: 57,003,718 (GRCm39) D39G probably damaging Het
Rcor3 T C 1: 191,786,021 (GRCm39) T406A probably benign Het
Rhbdl2 T A 4: 123,718,712 (GRCm39) I222K probably damaging Het
Ripk2 T C 4: 16,151,968 (GRCm39) N197S possibly damaging Het
Rpia A T 6: 70,743,602 (GRCm39) M283K probably damaging Het
Rps6kc1 T C 1: 190,604,022 (GRCm39) D200G probably benign Het
Sipa1l1 A T 12: 82,389,271 (GRCm39) K499M probably damaging Het
Slc5a4b A G 10: 75,906,407 (GRCm39) L404P probably damaging Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Spmip4 G A 6: 50,566,078 (GRCm39) probably null Het
St7 A C 6: 17,854,998 (GRCm39) T312P probably damaging Het
Strbp T C 2: 37,515,294 (GRCm39) E244G probably damaging Het
Tbc1d8 T G 1: 39,416,061 (GRCm39) T871P probably benign Het
Tcp1 T A 17: 13,141,049 (GRCm39) I286N probably damaging Het
Tead3 C A 17: 28,552,491 (GRCm39) V327F probably damaging Het
Tmem132c A T 5: 127,640,504 (GRCm39) T892S probably benign Het
Trmt2a T C 16: 18,068,487 (GRCm39) S65P probably benign Het
Ubp1 A G 9: 113,802,597 (GRCm39) N479S possibly damaging Het
Ubtfl1 A T 9: 18,320,527 (GRCm39) L18F possibly damaging Het
Uevld T G 7: 46,587,804 (GRCm39) M299L probably benign Het
Unc13b T A 4: 43,173,854 (GRCm39) Y1561N unknown Het
Ylpm1 A G 12: 85,075,896 (GRCm39) K874E probably damaging Het
Zbtb37 G A 1: 160,859,802 (GRCm39) R168W possibly damaging 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
R6574:Ptbp2 UTSW 3 119,541,596 (GRCm39) missense probably damaging 0.99
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
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'- ACTCACGGGATGTTAGACAGG -3'
(R):5'- GTGGCCATTAAAATCCAGTTCATC -3'

Sequencing Primer
(F):5'- CTCACGGGATGTTAGACAGGTGAAG -3'
(R):5'- GCCATTAAAATCCAGTTCATCATCAG -3'
Posted On 2019-11-12