Incidental Mutation 'IGL03072:Igf2bp2'
ID417567
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igf2bp2
Ensembl Gene ENSMUSG00000033581
Gene Nameinsulin-like growth factor 2 mRNA binding protein 2
SynonymsIMP-2, C330012H03Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.281) question?
Stock #IGL03072
Quality Score
Status
Chromosome16
Chromosomal Location22059009-22163299 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 22068141 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000111037 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100052] [ENSMUST00000115379]
Predicted Effect probably null
Transcript: ENSMUST00000100052
SMART Domains Protein: ENSMUSP00000097629
Gene: ENSMUSG00000033581

DomainStartEndE-ValueType
RRM 4 72 8.2e-11 SMART
RRM 83 153 4.07e-6 SMART
KH 185 256 1.28e-14 SMART
KH 266 339 1.97e-15 SMART
low complexity region 375 391 N/A INTRINSIC
low complexity region 404 415 N/A INTRINSIC
KH 419 490 1.1e-13 SMART
KH 501 573 2.48e-12 SMART
Predicted Effect probably null
Transcript: ENSMUST00000115379
SMART Domains Protein: ENSMUSP00000111037
Gene: ENSMUSG00000033581

DomainStartEndE-ValueType
RRM 15 85 4.07e-6 SMART
KH 117 188 1.28e-14 SMART
KH 198 271 1.97e-15 SMART
low complexity region 307 323 N/A INTRINSIC
low complexity region 336 347 N/A INTRINSIC
KH 351 422 1.1e-13 SMART
KH 433 505 2.48e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124318
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129913
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134188
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231926
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that binds the 5' UTR of insulin-like growth factor 2 (IGF2) mRNA and regulates its translation. It plays an important role in metabolism and variation in this gene is associated with susceptibility to diabetes. Alternative splicing and promoter usage results in multiple transcript variants. Related pseudogenes are found on several chromosomes. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik G A 13: 77,259,997 V148I probably benign Het
Ahcyl2 T C 6: 29,906,501 probably benign Het
Ahnak T C 19: 9,006,508 S1719P probably benign Het
C2cd5 A G 6: 143,079,883 I196T possibly damaging Het
Cdhr2 A G 13: 54,726,661 I849V probably benign Het
Cpsf3 A G 12: 21,295,088 K134E possibly damaging Het
Dnaic1 A G 4: 41,602,979 T161A probably benign Het
Gm17093 G T 14: 44,520,672 probably benign Het
Lcor T C 19: 41,558,814 V279A possibly damaging Het
Myo9a C A 9: 59,809,442 T475K possibly damaging Het
Nat8f4 A G 6: 85,900,854 probably benign Het
Neto1 A G 18: 86,498,589 T344A probably benign Het
Olfr1048 A T 2: 86,236,460 M118K probably damaging Het
Olfr371 A G 8: 85,230,510 N5S probably benign Het
Olfr772 A T 10: 129,174,489 D177E probably damaging Het
Pde8a A T 7: 81,308,809 I312F probably damaging Het
Ppp3cb A G 14: 20,531,725 I74T probably damaging Het
Prom1 T C 5: 44,058,662 probably benign Het
Psg29 T C 7: 17,208,794 V240A probably benign Het
Reep4 T C 14: 70,548,235 S238P probably damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Tmprss5 T A 9: 49,109,018 N99K possibly damaging Het
Tph1 G A 7: 46,652,859 T313M probably damaging Het
Tprn T C 2: 25,264,518 S611P probably damaging Het
Upp2 G T 2: 58,755,423 probably null Het
Vezt C A 10: 93,974,033 A549S probably damaging Het
Zfp786 A G 6: 47,821,243 Y254H probably benign Het
Other mutations in Igf2bp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01074:Igf2bp2 APN 16 22063704 missense probably damaging 1.00
IGL02374:Igf2bp2 APN 16 22081868 missense probably benign 0.00
IGL02752:Igf2bp2 APN 16 22080110 missense probably benign 0.00
IGL02884:Igf2bp2 APN 16 22162885 missense probably benign 0.00
defender UTSW 16 22070306 critical splice donor site probably null
Petite UTSW 16 22079608 critical splice acceptor site probably null
R0008:Igf2bp2 UTSW 16 22076091 missense probably benign 0.22
R0183:Igf2bp2 UTSW 16 22078730 nonsense probably null
R0390:Igf2bp2 UTSW 16 22081801 missense possibly damaging 0.87
R0505:Igf2bp2 UTSW 16 22089099 missense possibly damaging 0.90
R0610:Igf2bp2 UTSW 16 22070309 missense probably benign 0.00
R0696:Igf2bp2 UTSW 16 22080125 missense probably benign 0.19
R0966:Igf2bp2 UTSW 16 22089090 missense probably damaging 1.00
R1101:Igf2bp2 UTSW 16 22162950 missense probably damaging 1.00
R1159:Igf2bp2 UTSW 16 22061853 splice site probably benign
R1169:Igf2bp2 UTSW 16 22078730 nonsense probably null
R1762:Igf2bp2 UTSW 16 22083947 nonsense probably null
R2168:Igf2bp2 UTSW 16 22079608 critical splice acceptor site probably null
R4014:Igf2bp2 UTSW 16 22063676 missense probably damaging 0.99
R4015:Igf2bp2 UTSW 16 22063676 missense probably damaging 0.99
R4016:Igf2bp2 UTSW 16 22063676 missense probably damaging 0.99
R4017:Igf2bp2 UTSW 16 22063676 missense probably damaging 0.99
R4128:Igf2bp2 UTSW 16 22078621 missense probably benign 0.00
R4986:Igf2bp2 UTSW 16 22070306 critical splice donor site probably null
R5007:Igf2bp2 UTSW 16 22079496 missense probably damaging 1.00
R5268:Igf2bp2 UTSW 16 22079491 missense probably damaging 1.00
R5531:Igf2bp2 UTSW 16 22089085 missense probably damaging 1.00
R6154:Igf2bp2 UTSW 16 22076093 nonsense probably null
R6819:Igf2bp2 UTSW 16 22060836 missense probably damaging 1.00
R6975:Igf2bp2 UTSW 16 22061861 missense probably null 1.00
R7008:Igf2bp2 UTSW 16 22081832 missense probably benign 0.16
R7311:Igf2bp2 UTSW 16 22061882 missense possibly damaging 0.76
X0066:Igf2bp2 UTSW 16 22161291 missense probably benign 0.15
Posted On2016-08-02