Incidental Mutation 'IGL03279:Ptbp3'
ID 415521
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptbp3
Ensembl Gene ENSMUSG00000028382
Gene Name polypyrimidine tract binding protein 3
Synonyms Rod1, 5830471K22Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.365) question?
Stock # IGL03279
Quality Score
Status
Chromosome 4
Chromosomal Location 59471868-59549288 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 59476937 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 440 (H440Q)
Ref Sequence ENSEMBL: ENSMUSP00000134290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030076] [ENSMUST00000102883] [ENSMUST00000148331] [ENSMUST00000172471] [ENSMUST00000172768] [ENSMUST00000173699] [ENSMUST00000174586] [ENSMUST00000174748]
AlphaFold Q8BHD7
Predicted Effect probably benign
Transcript: ENSMUST00000030076
AA Change: H506Q

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000030076
Gene: ENSMUSG00000028382
AA Change: H506Q

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 possibly damaging
Transcript: ENSMUST00000102883
AA Change: H534Q

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099947
Gene: ENSMUSG00000028382
AA Change: H534Q

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 possibly damaging
Transcript: ENSMUST00000148331
AA Change: H503Q

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000122840
Gene: ENSMUSG00000028382
AA Change: H503Q

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: ENSMUST00000172471
SMART Domains Protein: ENSMUSP00000133886
Gene: ENSMUSG00000028382

DomainStartEndE-ValueType
PDB:1SJR|A 1 34 2e-11 PDB
Blast:RRM_2 1 37 6e-9 BLAST
low complexity region 44 64 N/A INTRINSIC
RRM 92 161 2.13e-9 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000172768
AA Change: H503Q

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000134102
Gene: ENSMUSG00000028382
AA Change: H503Q

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: ENSMUST00000173268
Predicted Effect possibly damaging
Transcript: ENSMUST00000173699
AA Change: H440Q

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000134290
Gene: ENSMUSG00000028382
AA Change: H440Q

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 probably benign
Transcript: ENSMUST00000174586
AA Change: H537Q

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000133612
Gene: ENSMUSG00000028382
AA Change: H537Q

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T A 11: 119,904,504 (GRCm39) D224V probably damaging Het
Abca4 C A 3: 121,935,381 (GRCm39) N1526K probably benign Het
Aif1 T A 17: 35,390,523 (GRCm39) K76* probably null Het
Arap2 A G 5: 62,779,253 (GRCm39) S1446P probably damaging Het
Cyb5rl A T 4: 106,941,325 (GRCm39) E250V possibly damaging Het
Dock3 T C 9: 106,788,447 (GRCm39) probably benign Het
Dppa2 A G 16: 48,132,028 (GRCm39) T42A possibly damaging Het
Drosha C T 15: 12,859,478 (GRCm39) P562L probably benign Het
Egfl7 C A 2: 26,480,719 (GRCm39) H126N probably benign Het
Gm5852 T C 3: 93,634,584 (GRCm39) noncoding transcript Het
Gpr161 T C 1: 165,138,098 (GRCm39) F228S probably damaging Het
Grid1 T A 14: 34,667,722 (GRCm39) M83K probably damaging Het
Gsdma2 T C 11: 98,548,549 (GRCm39) S434P unknown Het
Hao2 T A 3: 98,787,712 (GRCm39) N239I possibly damaging Het
Hsd17b14 A T 7: 45,215,617 (GRCm39) I206F possibly damaging Het
Kansl1l A T 1: 66,774,825 (GRCm39) V667E probably damaging Het
Kdm3a T C 6: 71,588,659 (GRCm39) D450G probably benign Het
Lmo7 C A 14: 102,137,944 (GRCm39) A882E probably benign Het
P4ha3 A G 7: 99,949,893 (GRCm39) Y254C probably damaging Het
Pcdh15 A G 10: 74,152,904 (GRCm39) Y408C probably damaging Het
Pglyrp3 T C 3: 91,933,834 (GRCm39) Y160H probably damaging Het
Pnma5 G A X: 72,079,605 (GRCm39) T359I probably benign Het
Rbx1 A G 15: 81,352,399 (GRCm39) N41S probably damaging Het
Rpl3 G A 15: 79,962,560 (GRCm39) T340I probably benign Het
Scrn1 G A 6: 54,525,322 (GRCm39) R16* probably null Het
Sema6a A T 18: 47,433,157 (GRCm39) C91* probably null Het
Slco6d1 T A 1: 98,394,405 (GRCm39) V363E probably damaging Het
Stk38 A G 17: 29,203,179 (GRCm39) probably benign Het
Tanc2 G A 11: 105,803,918 (GRCm39) probably null Het
Thada A G 17: 84,742,988 (GRCm39) F812S probably benign Het
Tubb4b-ps1 A G 5: 7,229,630 (GRCm39) probably benign Het
Veph1 T C 3: 66,162,443 (GRCm39) T72A probably damaging Het
Vps52 T A 17: 34,176,848 (GRCm39) D67E probably damaging Het
Other mutations in Ptbp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00932:Ptbp3 APN 4 59,477,228 (GRCm39) missense probably benign 0.29
IGL03035:Ptbp3 APN 4 59,477,218 (GRCm39) missense probably benign 0.00
IGL03118:Ptbp3 APN 4 59,501,470 (GRCm39) missense probably benign 0.03
IGL03257:Ptbp3 APN 4 59,493,370 (GRCm39) splice site probably benign
R0557:Ptbp3 UTSW 4 59,517,684 (GRCm39) nonsense probably null
R1741:Ptbp3 UTSW 4 59,482,624 (GRCm39) missense probably damaging 0.98
R1914:Ptbp3 UTSW 4 59,517,635 (GRCm39) missense probably damaging 1.00
R1915:Ptbp3 UTSW 4 59,517,635 (GRCm39) missense probably damaging 1.00
R2679:Ptbp3 UTSW 4 59,494,615 (GRCm39) splice site probably benign
R3798:Ptbp3 UTSW 4 59,546,166 (GRCm39) missense probably benign 0.05
R4793:Ptbp3 UTSW 4 59,514,297 (GRCm39) missense possibly damaging 0.71
R4869:Ptbp3 UTSW 4 59,524,443 (GRCm39) missense possibly damaging 0.79
R5573:Ptbp3 UTSW 4 59,485,626 (GRCm39) missense probably damaging 1.00
R5986:Ptbp3 UTSW 4 59,493,311 (GRCm39) missense probably benign 0.37
R6350:Ptbp3 UTSW 4 59,482,624 (GRCm39) missense probably damaging 0.98
R6659:Ptbp3 UTSW 4 59,517,640 (GRCm39) missense probably damaging 1.00
R7283:Ptbp3 UTSW 4 59,514,384 (GRCm39) missense probably benign 0.00
R7523:Ptbp3 UTSW 4 59,546,159 (GRCm39) missense probably benign
R7566:Ptbp3 UTSW 4 59,514,280 (GRCm39) missense probably benign 0.03
R8807:Ptbp3 UTSW 4 59,517,584 (GRCm39) missense probably benign
YA93:Ptbp3 UTSW 4 59,524,413 (GRCm39) missense possibly damaging 0.71
Posted On 2016-08-02