Incidental Mutation 'IGL03118:Ptbp3'
ID409885
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptbp3
Ensembl Gene ENSMUSG00000028382
Gene Namepolypyrimidine tract binding protein 3
SynonymsRod1, 5830471K22Rik
Accession Numbers

Genbank: NM_144904; MGI: 1923334; Ensembl: ENSMUST00000030076

Is this an essential gene? Possibly non essential (E-score: 0.307) question?
Stock #IGL03118
Quality Score
Status
Chromosome4
Chromosomal Location59471868-59549364 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 59501470 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 149 (A149V)
Ref Sequence ENSEMBL: ENSMUSP00000133612 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030076] [ENSMUST00000102883] [ENSMUST00000134879] [ENSMUST00000148331] [ENSMUST00000172768] [ENSMUST00000173699] [ENSMUST00000173884] [ENSMUST00000174586] [ENSMUST00000174748]
Predicted Effect probably benign
Transcript: ENSMUST00000030076
AA Change: A118V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000030076
Gene: ENSMUSG00000028382
AA Change: A118V

DomainStartEndE-ValueType
RRM 31 100 2.24e-3 SMART
low complexity region 115 130 N/A INTRINSIC
RRM 154 223 2.51e-6 SMART
low complexity region 277 293 N/A INTRINSIC
RRM 330 399 2.13e-9 SMART
RRM 447 517 1.29e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102883
AA Change: A146V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000099947
Gene: ENSMUSG00000028382
AA Change: A146V

DomainStartEndE-ValueType
RRM 59 128 2.24e-3 SMART
low complexity region 143 158 N/A INTRINSIC
RRM 182 251 2.51e-6 SMART
low complexity region 305 321 N/A INTRINSIC
RRM 358 427 2.13e-9 SMART
RRM 475 545 1.29e-8 SMART
Predicted Effect unknown
Transcript: ENSMUST00000134879
AA Change: P5S
Predicted Effect probably benign
Transcript: ENSMUST00000148331
AA Change: A115V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000122840
Gene: ENSMUSG00000028382
AA Change: A115V

DomainStartEndE-ValueType
RRM 28 97 2.24e-3 SMART
low complexity region 112 127 N/A INTRINSIC
RRM 151 220 2.51e-6 SMART
low complexity region 274 290 N/A INTRINSIC
RRM 327 396 2.13e-9 SMART
RRM 444 514 1.29e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151313
Predicted Effect probably benign
Transcript: ENSMUST00000172768
AA Change: A115V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000134102
Gene: ENSMUSG00000028382
AA Change: A115V

DomainStartEndE-ValueType
RRM 28 97 2.24e-3 SMART
low complexity region 112 127 N/A INTRINSIC
RRM 151 220 2.51e-6 SMART
low complexity region 274 290 N/A INTRINSIC
RRM 327 396 2.13e-9 SMART
RRM 444 514 1.29e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173699
AA Change: A52V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000134290
Gene: ENSMUSG00000028382
AA Change: A52V

DomainStartEndE-ValueType
PDB:2CQ1|A 2 44 7e-18 PDB
low complexity region 49 64 N/A INTRINSIC
RRM 88 157 2.51e-6 SMART
low complexity region 211 227 N/A INTRINSIC
RRM 264 333 2.13e-9 SMART
RRM 381 451 1.29e-8 SMART
Predicted Effect unknown
Transcript: ENSMUST00000173884
AA Change: A16V
SMART Domains Protein: ENSMUSP00000133996
Gene: ENSMUSG00000028382
AA Change: A16V

DomainStartEndE-ValueType
low complexity region 16 28 N/A INTRINSIC
RRM 52 121 2.51e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174586
AA Change: A149V

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000133612
Gene: ENSMUSG00000028382
AA Change: A149V

DomainStartEndE-ValueType
RRM 62 131 2.24e-3 SMART
low complexity region 146 161 N/A INTRINSIC
RRM 185 254 2.51e-6 SMART
low complexity region 308 324 N/A INTRINSIC
RRM 361 430 2.13e-9 SMART
RRM 478 548 1.29e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174748
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 RNA and is a regulator of cell differentiation. The encoded protein preferentially binds to poly(G) and poly(U) sequences in vitro. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Allele List at MGI

All alleles(6) : Gene trapped(6)

Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 G A 17: 24,400,450 G921S probably benign Het
Abca8b T C 11: 109,947,181 T1082A possibly damaging Het
AF366264 C T 8: 13,838,096 probably benign Het
B9d2 T C 7: 25,681,476 probably null Het
Bfsp1 T C 2: 143,827,333 E442G possibly damaging Het
Bpifb5 C T 2: 154,236,753 probably benign Het
Ccl1 A G 11: 82,178,070 I47T probably damaging Het
Cln3 T C 7: 126,575,397 I285V probably null Het
Cyp4a12b G T 4: 115,432,976 R242I possibly damaging Het
Dcc T C 18: 71,420,273 T771A probably benign Het
Erbb4 T C 1: 68,042,719 D1052G probably benign Het
Fcnb T C 2: 28,076,618 N301S probably benign Het
Gm28043 A C 17: 29,634,731 E403A probably damaging Het
Gria4 A G 9: 4,793,804 probably benign Het
Ighv5-12 T A 12: 113,702,578 M1L probably benign Het
Il17rd A G 14: 27,093,395 probably null Het
Kcnn3 T A 3: 89,667,161 L660Q probably damaging Het
Lcor C T 19: 41,558,369 P131S probably damaging Het
Leng1 T C 7: 3,665,410 N13S probably damaging Het
Loxhd1 T C 18: 77,380,464 V827A probably damaging Het
Mapk13 A G 17: 28,777,735 Y208C probably benign Het
Mybpc3 T C 2: 91,124,503 V453A probably damaging Het
Odam T C 5: 87,885,754 S15P unknown Het
Olfr26 A T 9: 38,855,230 H56L probably damaging Het
Olfr323 A T 11: 58,625,443 V201D probably damaging Het
Pcdhb19 T C 18: 37,499,565 probably benign Het
Per2 G T 1: 91,444,619 Y244* probably null Het
Pik3ca A T 3: 32,459,935 I857F probably damaging Het
Pold1 T A 7: 44,539,400 I447F probably benign Het
Ppm1f T A 16: 16,914,078 W131R probably null Het
Ppp2r2c A G 5: 36,926,316 Y67C probably damaging Het
Psmb10 A T 8: 105,936,900 H155Q probably damaging Het
Pygb T A 2: 150,820,811 V566E probably benign Het
Rictor G A 15: 6,759,518 R205Q possibly damaging Het
Ryr1 T A 7: 29,015,786 R4638W unknown Het
Sept3 G A 15: 82,284,514 probably null Het
Serpina3b A T 12: 104,131,054 D198V probably benign Het
Slc27a6 C A 18: 58,556,743 H94N probably benign Het
Taf2 C T 15: 55,052,163 V456M probably damaging Het
Tbpl2 T C 2: 24,087,289 E238G probably benign Het
Ttn C T 2: 76,754,207 V20440I possibly damaging Het
Zfp638 T A 6: 83,935,018 probably benign Het
Zfp865 T C 7: 5,034,645 probably benign Het
Other mutations in Ptbp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00932:Ptbp3 APN 4 59477228 missense probably benign 0.29
IGL03035:Ptbp3 APN 4 59477218 missense probably benign 0.00
IGL03257:Ptbp3 APN 4 59493370 splice site probably benign
IGL03279:Ptbp3 APN 4 59476937 missense possibly damaging 0.68
R0557:Ptbp3 UTSW 4 59517684 nonsense probably null
R1741:Ptbp3 UTSW 4 59482624 missense probably damaging 0.98
R1914:Ptbp3 UTSW 4 59517635 missense probably damaging 1.00
R1915:Ptbp3 UTSW 4 59517635 missense probably damaging 1.00
R2679:Ptbp3 UTSW 4 59494615 splice site probably benign
R3798:Ptbp3 UTSW 4 59546166 missense probably benign 0.05
R4793:Ptbp3 UTSW 4 59514297 missense possibly damaging 0.71
R4869:Ptbp3 UTSW 4 59524443 missense possibly damaging 0.79
R5573:Ptbp3 UTSW 4 59485626 missense probably damaging 1.00
R5986:Ptbp3 UTSW 4 59493311 missense probably benign 0.37
R6350:Ptbp3 UTSW 4 59482624 missense probably damaging 0.98
R6659:Ptbp3 UTSW 4 59517640 missense probably damaging 1.00
R7283:Ptbp3 UTSW 4 59514384 missense probably benign 0.00
R7523:Ptbp3 UTSW 4 59546159 missense probably benign
R7566:Ptbp3 UTSW 4 59514280 missense probably benign 0.03
YA93:Ptbp3 UTSW 4 59524413 missense possibly damaging 0.71
Posted On2016-08-02