Incidental Mutation 'R7311:Igf2bp2'
ID 567627
Institutional Source Beutler Lab
Gene Symbol Igf2bp2
Ensembl Gene ENSMUSG00000033581
Gene Name insulin-like growth factor 2 mRNA binding protein 2
Synonyms IMP2, C330012H03Rik, IMP-2
MMRRC Submission 045367-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.196) question?
Stock # R7311 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 21877759-21982049 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21880632 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 555 (I555T)
Ref Sequence ENSEMBL: ENSMUSP00000097629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100052] [ENSMUST00000115379]
AlphaFold Q5SF07
Predicted Effect possibly damaging
Transcript: ENSMUST00000100052
AA Change: I555T

PolyPhen 2 Score 0.761 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000097629
Gene: ENSMUSG00000033581
AA Change: I555T

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 possibly damaging
Transcript: ENSMUST00000115379
AA Change: I487T

PolyPhen 2 Score 0.761 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000111037
Gene: ENSMUSG00000033581
AA Change: I487T

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001K19Rik A G 12: 110,635,184 (GRCm39) V118A probably benign Het
Accsl C T 2: 93,696,160 (GRCm39) G146D possibly damaging Het
Acsm1 A T 7: 119,237,305 (GRCm39) H206L probably damaging Het
Acta2 A G 19: 34,219,186 (GRCm39) Y339H probably damaging Het
Adcy2 T C 13: 68,779,073 (GRCm39) D989G probably damaging Het
Ahnak G A 19: 8,979,507 (GRCm39) A264T probably benign Het
Ahnak A G 19: 8,987,191 (GRCm39) D2825G possibly damaging Het
Akt1 G T 12: 112,623,587 (GRCm39) T291K probably damaging Het
Arhgap24 A G 5: 103,040,551 (GRCm39) D589G probably damaging Het
B4galnt3 G A 6: 120,192,396 (GRCm39) Q447* probably null Het
BC024063 C T 10: 81,945,993 (GRCm39) R538C possibly damaging Het
Bod1l A G 5: 41,951,676 (GRCm39) S2912P possibly damaging Het
Bysl A G 17: 47,912,710 (GRCm39) V360A possibly damaging Het
C1qb A G 4: 136,607,877 (GRCm39) V162A possibly damaging Het
Ccdc57 G A 11: 120,764,567 (GRCm39) P736L probably benign Het
Cep290 T A 10: 100,373,580 (GRCm39) F1287I probably damaging Het
Cntn1 T C 15: 92,130,156 (GRCm39) probably null Het
Col6a3 C T 1: 90,750,013 (GRCm39) G274R probably damaging Het
Cplane1 G T 15: 8,210,399 (GRCm39) V291F probably damaging Het
Cyb5r4 T C 9: 86,937,835 (GRCm39) C285R probably damaging Het
Cyp4f39 G A 17: 32,708,629 (GRCm39) C392Y probably damaging Het
Dcun1d3 A T 7: 119,458,734 (GRCm39) D100E probably damaging Het
Dhx58 A T 11: 100,588,997 (GRCm39) D516E probably benign Het
Dock5 T A 14: 68,065,951 (GRCm39) I351F probably benign Het
Elmod2 A C 8: 84,046,041 (GRCm39) probably null Het
Endov G A 11: 119,398,077 (GRCm39) A281T probably benign Het
Epyc A G 10: 97,485,562 (GRCm39) M1V probably null Het
Espnl T A 1: 91,251,290 (GRCm39) H128Q probably damaging Het
Fam20a A T 11: 109,565,454 (GRCm39) C452* probably null Het
Fam241b A G 10: 61,944,733 (GRCm39) V88A probably damaging Het
Fbxl9 A G 8: 106,042,299 (GRCm39) probably benign Het
Fgd3 A T 13: 49,450,166 (GRCm39) S28T possibly damaging Het
Fmn1 C A 2: 113,356,025 (GRCm39) P920Q unknown Het
Gpr139 G C 7: 118,744,089 (GRCm39) D165E probably benign Het
Hoxb1 A G 11: 96,257,927 (GRCm39) T286A possibly damaging Het
Ifi204 T A 1: 173,587,134 (GRCm39) E174D probably benign Het
Ighv1-85 A G 12: 115,963,799 (GRCm39) I67T probably damaging Het
Ihh G C 1: 74,990,306 (GRCm39) P23R unknown Het
Irx2 T C 13: 72,779,396 (GRCm39) S227P probably damaging Het
Itga4 A G 2: 79,086,526 (GRCm39) I68V probably benign Het
Jsrp1 T A 10: 80,647,906 (GRCm39) T51S probably benign Het
Khdc4 T C 3: 88,619,002 (GRCm39) S569P probably damaging Het
Kifc2 G T 15: 76,547,010 (GRCm39) G306V probably damaging Het
L3mbtl2 T A 15: 81,551,588 (GRCm39) S85T possibly damaging Het
Lama1 T C 17: 68,074,380 (GRCm39) S944P Het
Lama4 T A 10: 38,902,631 (GRCm39) C202S probably damaging Het
Morc3 G A 16: 93,646,061 (GRCm39) D218N probably damaging Het
Mrtfb T A 16: 13,223,718 (GRCm39) Y866* probably null Het
Myorg A G 4: 41,498,577 (GRCm39) I351T probably damaging Het
N4bp2l1 G A 5: 150,496,389 (GRCm39) T179I probably damaging Het
Narf A G 11: 121,139,976 (GRCm39) E270G probably benign Het
Nsd2 A G 5: 34,049,380 (GRCm39) D1205G probably damaging Het
Or10x1 T C 1: 174,196,759 (GRCm39) V92A probably benign Het
Or5an11 T C 19: 12,246,068 (GRCm39) V158A probably benign Het
Parl T C 16: 20,106,625 (GRCm39) T195A probably benign Het
Phrf1 A G 7: 140,820,846 (GRCm39) I158V unknown Het
Phtf1 T C 3: 103,904,980 (GRCm39) F543L possibly damaging Het
Plod2 T A 9: 92,466,611 (GRCm39) D190E probably damaging Het
Polr1a G T 6: 71,927,863 (GRCm39) K871N possibly damaging Het
Ppp2r5a A T 1: 191,089,998 (GRCm39) I252K probably damaging Het
Ptgir T A 7: 16,640,973 (GRCm39) D88E probably damaging Het
Raly T C 2: 154,699,340 (GRCm39) V48A probably damaging Het
Ripor1 T A 8: 106,344,447 (GRCm39) L527* probably null Het
Rnf213 T C 11: 119,307,373 (GRCm39) S678P Het
Rpf1 T A 3: 146,212,918 (GRCm39) Q306L probably benign Het
Rpl14 T C 9: 120,403,171 (GRCm39) I122T probably damaging Het
Scn9a C A 2: 66,314,748 (GRCm39) A1657S possibly damaging Het
Serpinb10 A G 1: 107,474,477 (GRCm39) Y213C probably damaging Het
Slc25a23 A G 17: 57,359,827 (GRCm39) L308P probably damaging Het
Smg9 T A 7: 24,120,058 (GRCm39) M387K probably benign Het
Socs3 G A 11: 117,858,614 (GRCm39) P148L probably benign Het
Susd3 A G 13: 49,401,906 (GRCm39) L14P probably benign Het
Syt14 T A 1: 192,662,858 (GRCm39) M80L probably benign Het
Tmprss2 T A 16: 97,369,616 (GRCm39) Y386F possibly damaging Het
Tmx3 T A 18: 90,558,195 (GRCm39) S416T probably benign Het
Treh A G 9: 44,597,245 (GRCm39) T555A probably benign Het
Ttc5 T G 14: 51,003,400 (GRCm39) Q428P probably damaging Het
Vmn2r73 A G 7: 85,521,192 (GRCm39) S259P possibly damaging Het
Vps4b A T 1: 106,719,434 (GRCm39) V38E probably damaging Het
Wdr83 C A 8: 85,802,890 (GRCm39) R177L probably benign Het
Zfp780b A G 7: 27,662,588 (GRCm39) F656L possibly damaging Het
Zfp995 A T 17: 22,099,641 (GRCm39) F198I probably benign Het
Zswim8 A T 14: 20,771,552 (GRCm39) Y1495F probably damaging Het
Other mutations in Igf2bp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01074:Igf2bp2 APN 16 21,882,454 (GRCm39) missense probably damaging 1.00
IGL02374:Igf2bp2 APN 16 21,900,618 (GRCm39) missense probably benign 0.00
IGL02752:Igf2bp2 APN 16 21,898,860 (GRCm39) missense probably benign 0.00
IGL02884:Igf2bp2 APN 16 21,981,635 (GRCm39) missense probably benign 0.00
IGL03072:Igf2bp2 APN 16 21,886,891 (GRCm39) critical splice donor site probably null
defender UTSW 16 21,889,056 (GRCm39) critical splice donor site probably null
Ither UTSW 16 21,883,866 (GRCm39) missense probably damaging 1.00
Knight UTSW 16 21,907,849 (GRCm39) missense possibly damaging 0.90
Petite UTSW 16 21,898,358 (GRCm39) critical splice acceptor site probably null
R0008:Igf2bp2 UTSW 16 21,894,841 (GRCm39) missense probably benign 0.22
R0183:Igf2bp2 UTSW 16 21,897,480 (GRCm39) nonsense probably null
R0390:Igf2bp2 UTSW 16 21,900,551 (GRCm39) missense possibly damaging 0.87
R0505:Igf2bp2 UTSW 16 21,907,849 (GRCm39) missense possibly damaging 0.90
R0610:Igf2bp2 UTSW 16 21,889,059 (GRCm39) missense probably benign 0.00
R0696:Igf2bp2 UTSW 16 21,898,875 (GRCm39) missense probably benign 0.19
R0966:Igf2bp2 UTSW 16 21,907,840 (GRCm39) missense probably damaging 1.00
R1101:Igf2bp2 UTSW 16 21,981,700 (GRCm39) missense probably damaging 1.00
R1159:Igf2bp2 UTSW 16 21,880,603 (GRCm39) splice site probably benign
R1169:Igf2bp2 UTSW 16 21,897,480 (GRCm39) nonsense probably null
R1762:Igf2bp2 UTSW 16 21,902,697 (GRCm39) nonsense probably null
R2168:Igf2bp2 UTSW 16 21,898,358 (GRCm39) critical splice acceptor site probably null
R4014:Igf2bp2 UTSW 16 21,882,426 (GRCm39) missense probably damaging 0.99
R4015:Igf2bp2 UTSW 16 21,882,426 (GRCm39) missense probably damaging 0.99
R4016:Igf2bp2 UTSW 16 21,882,426 (GRCm39) missense probably damaging 0.99
R4017:Igf2bp2 UTSW 16 21,882,426 (GRCm39) missense probably damaging 0.99
R4128:Igf2bp2 UTSW 16 21,897,371 (GRCm39) missense probably benign 0.00
R4986:Igf2bp2 UTSW 16 21,889,056 (GRCm39) critical splice donor site probably null
R5007:Igf2bp2 UTSW 16 21,898,246 (GRCm39) missense probably damaging 1.00
R5268:Igf2bp2 UTSW 16 21,898,241 (GRCm39) missense probably damaging 1.00
R5531:Igf2bp2 UTSW 16 21,907,835 (GRCm39) missense probably damaging 1.00
R6154:Igf2bp2 UTSW 16 21,894,843 (GRCm39) nonsense probably null
R6819:Igf2bp2 UTSW 16 21,879,586 (GRCm39) missense probably damaging 1.00
R6975:Igf2bp2 UTSW 16 21,880,611 (GRCm39) missense probably null 1.00
R7008:Igf2bp2 UTSW 16 21,900,582 (GRCm39) missense probably benign 0.16
R8011:Igf2bp2 UTSW 16 21,894,849 (GRCm39) missense probably damaging 1.00
R8045:Igf2bp2 UTSW 16 21,902,728 (GRCm39) missense possibly damaging 0.82
R8442:Igf2bp2 UTSW 16 21,883,841 (GRCm39) critical splice donor site probably null
R8826:Igf2bp2 UTSW 16 21,883,866 (GRCm39) missense probably damaging 1.00
R8947:Igf2bp2 UTSW 16 21,897,473 (GRCm39) nonsense probably null
R9132:Igf2bp2 UTSW 16 21,900,502 (GRCm39) missense probably damaging 1.00
R9159:Igf2bp2 UTSW 16 21,900,502 (GRCm39) missense probably damaging 1.00
R9244:Igf2bp2 UTSW 16 21,886,901 (GRCm39) missense possibly damaging 0.92
R9368:Igf2bp2 UTSW 16 21,883,895 (GRCm39) missense probably damaging 0.99
R9508:Igf2bp2 UTSW 16 21,898,845 (GRCm39) missense probably benign 0.13
R9644:Igf2bp2 UTSW 16 21,902,735 (GRCm39) missense probably damaging 0.98
X0066:Igf2bp2 UTSW 16 21,980,041 (GRCm39) missense probably benign 0.15
Predicted Primers PCR Primer
(F):5'- CAACCTAAGCATGCCAAGGG -3'
(R):5'- TCAGTCAGCCTTAATGAGCC -3'

Sequencing Primer
(F):5'- GGGCACTGCACCAACAG -3'
(R):5'- AGGATTGAGCCTCCTGCCTC -3'
Posted On 2019-06-26