Incidental Mutation 'R5102:Ide'
ID 392449
Institutional Source Beutler Lab
Gene Symbol Ide
Ensembl Gene ENSMUSG00000056999
Gene Name insulin degrading enzyme
MMRRC Submission 042690-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5102 (G1)
Quality Score 154
Status Not validated
Chromosome 19
Chromosomal Location 37268743-37337852 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37314984 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 271 (I271L)
Gene Model predicted gene model for transcript(s):
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000131070
AA Change: I271L
SMART Domains Protein: ENSMUSP00000121358
Gene: ENSMUSG00000056999
AA Change: I271L

Pfam:Peptidase_M16 42 180 8.1e-49 PFAM
Pfam:Peptidase_M16_C 205 385 2.1e-25 PFAM
Pfam:Peptidase_M16_M 389 671 1.9e-106 PFAM
Pfam:Peptidase_M16_C 674 857 9.4e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150707
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154308
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a zinc metallopeptidase that degrades intracellular insulin, and thereby terminates insulins activity, as well as participating in intercellular peptide signalling by degrading diverse peptides such as glucagon, amylin, bradykinin, and kallidin. The preferential affinity of this enzyme for insulin results in insulin-mediated inhibition of the degradation of other peptides such as beta-amyloid. Deficiencies in this protein's function are associated with Alzheimer's disease and type 2 diabetes mellitus but mutations in this gene have not been shown to be causitive for these diseases. This protein localizes primarily to the cytoplasm but in some cell types localizes to the extracellular space, cell membrane, peroxisome, and mitochondrion. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described but have not been experimentally verified.[provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a disruption of this gene display beta amyloid accumulations in the brain, hyperinsulinemia and glucose intolerance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox4 C T 1: 58,240,778 (GRCm38) R518C probably damaging Het
Apbb2 A T 5: 66,312,249 (GRCm38) probably null Het
Arhgap45 C T 10: 80,021,428 (GRCm38) P254S probably benign Het
Arl4c T C 1: 88,701,600 (GRCm38) D22G probably damaging Het
Asxl1 A G 2: 153,400,955 (GRCm38) T1142A probably benign Het
BC035044 T C 6: 128,884,986 (GRCm38) probably benign Het
Bmp4 T C 14: 46,384,001 (GRCm38) N362S probably damaging Het
Cbll1 G T 12: 31,487,913 (GRCm38) T280N probably damaging Het
Cdh10 A T 15: 18,986,885 (GRCm38) T401S probably benign Het
Cmklr2 A G 1: 63,183,167 (GRCm38) V303A probably damaging Het
Cps1 A T 1: 67,206,793 (GRCm38) M1148L probably benign Het
Crybg1 T C 10: 43,997,836 (GRCm38) D1092G probably damaging Het
Cyth2 A G 7: 45,810,702 (GRCm38) S173P probably damaging Het
D6Ertd527e A T 6: 87,111,811 (GRCm38) I319F unknown Het
Dchs1 A T 7: 105,772,177 (GRCm38) H345Q probably benign Het
Ddx50 A T 10: 62,640,861 (GRCm38) V211E probably damaging Het
Dlx6 AGG AG 6: 6,865,180 (GRCm38) probably null Het
Dnajb5 G A 4: 42,956,639 (GRCm38) D109N possibly damaging Het
Dner A T 1: 84,405,970 (GRCm38) N564K probably damaging Het
Fam234b T C 6: 135,209,284 (GRCm38) S97P probably benign Het
Fam53b G A 7: 132,715,955 (GRCm38) R60* probably null Het
Fmo3 T G 1: 162,963,977 (GRCm38) K244Q probably benign Het
Golim4 A G 3: 75,903,272 (GRCm38) I192T possibly damaging Het
Gprin1 T C 13: 54,739,763 (GRCm38) M233V probably benign Het
Gtf2f1 A T 17: 57,003,626 (GRCm38) V443D probably damaging Het
Hmgcs2 T C 3: 98,280,470 (GRCm38) probably benign Het
Kat8 G A 7: 127,924,816 (GRCm38) E343K probably damaging Het
Kif14 A G 1: 136,516,403 (GRCm38) I1378V probably benign Het
Lhx3 TCCTACGGGCCGGCCC TCC 2: 26,201,423 (GRCm38) probably null Het
Lhx6 T C 2: 36,094,210 (GRCm38) probably null Het
Lrp2 C T 2: 69,489,158 (GRCm38) G2007D probably damaging Het
Lrp5 T C 19: 3,659,304 (GRCm38) K142R probably damaging Het
Macroh2a1 C G 13: 56,096,123 (GRCm38) probably null Het
Mrpl2 G A 17: 46,650,038 (GRCm38) R286Q probably benign Het
Mtrfr A G 5: 124,338,891 (GRCm38) N83D probably damaging Het
Nacad T A 11: 6,598,528 (GRCm38) D1402V probably damaging Het
Ndfip2 T C 14: 105,298,105 (GRCm38) I275T possibly damaging Het
Neb A C 2: 52,226,570 (GRCm38) V4131G possibly damaging Het
Nfe2l1 G A 11: 96,822,108 (GRCm38) A83V probably damaging Het
Nos3 A G 5: 24,371,627 (GRCm38) D418G probably damaging Het
Or12e7 A T 2: 87,457,794 (GRCm38) M210L probably benign Het
Or1n1b T A 2: 36,890,044 (GRCm38) K268M possibly damaging Het
Plcd4 A G 1: 74,565,154 (GRCm38) T764A probably damaging Het
Plppr3 G T 10: 79,865,386 (GRCm38) P541T possibly damaging Het
Polr2a A G 11: 69,746,945 (GRCm38) I191T possibly damaging Het
Pramel18 T C 4: 101,909,239 (GRCm38) F40S probably damaging Het
Rab11fip1 T C 8: 27,156,374 (GRCm38) K225E probably damaging Het
Rara A T 11: 98,966,359 (GRCm38) Q64L possibly damaging Het
Rtkn G A 6: 83,149,773 (GRCm38) V305M probably damaging Het
Sh2b1 A C 7: 126,471,236 (GRCm38) F399V probably benign Het
Slc7a4 T C 16: 17,575,618 (GRCm38) T106A probably damaging Het
Srcap G A 7: 127,530,623 (GRCm38) G539D probably damaging Het
Stab1 C T 14: 31,148,017 (GRCm38) probably null Het
Zfp267 G A 3: 36,162,665 (GRCm38) C55Y possibly damaging Het
Other mutations in Ide
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00422:Ide APN 19 37,276,532 (GRCm38) missense unknown
IGL01924:Ide APN 19 37,272,164 (GRCm38) missense unknown
IGL01925:Ide APN 19 37,277,897 (GRCm38) missense unknown
IGL02616:Ide APN 19 37,298,056 (GRCm38) missense unknown
R0738:Ide UTSW 19 37,277,965 (GRCm38) nonsense probably null
R1509:Ide UTSW 19 37,285,204 (GRCm38) critical splice donor site probably null
R1557:Ide UTSW 19 37,280,761 (GRCm38) splice site probably null
R2935:Ide UTSW 19 37,325,307 (GRCm38) missense unknown
R4260:Ide UTSW 19 37,329,186 (GRCm38) missense unknown
R4261:Ide UTSW 19 37,329,186 (GRCm38) missense unknown
R4575:Ide UTSW 19 37,272,205 (GRCm38) missense unknown
R4913:Ide UTSW 19 37,329,070 (GRCm38) missense unknown
R4933:Ide UTSW 19 37,277,756 (GRCm38) missense unknown
R4951:Ide UTSW 19 37,285,232 (GRCm38) missense unknown
R5474:Ide UTSW 19 37,272,184 (GRCm38) missense unknown
R5502:Ide UTSW 19 37,330,456 (GRCm38) missense unknown
R5546:Ide UTSW 19 37,272,224 (GRCm38) missense unknown
R5601:Ide UTSW 19 37,314,980 (GRCm38) missense unknown
R5696:Ide UTSW 19 37,318,021 (GRCm38) missense unknown
R5884:Ide UTSW 19 37,272,153 (GRCm38) critical splice donor site probably null
R5983:Ide UTSW 19 37,272,150 (GRCm38) splice site probably null
R6286:Ide UTSW 19 37,278,010 (GRCm38) missense unknown
R7146:Ide UTSW 19 37,295,944 (GRCm38) missense
R7224:Ide UTSW 19 37,290,761 (GRCm38) missense
R7234:Ide UTSW 19 37,290,785 (GRCm38) missense
R7695:Ide UTSW 19 37,329,036 (GRCm38) missense
R7771:Ide UTSW 19 37,298,126 (GRCm38) missense
R7811:Ide UTSW 19 37,330,511 (GRCm38) missense
R7893:Ide UTSW 19 37,284,151 (GRCm38) missense
R8289:Ide UTSW 19 37,313,554 (GRCm38) missense probably null
R8289:Ide UTSW 19 37,313,553 (GRCm38) missense
R8359:Ide UTSW 19 37,330,487 (GRCm38) missense
R8421:Ide UTSW 19 37,278,004 (GRCm38) missense
R8828:Ide UTSW 19 37,314,842 (GRCm38) missense
R8979:Ide UTSW 19 37,325,312 (GRCm38) missense
R9134:Ide UTSW 19 37,296,162 (GRCm38) intron probably benign
R9142:Ide UTSW 19 37,330,499 (GRCm38) missense
R9229:Ide UTSW 19 37,284,199 (GRCm38) missense
R9237:Ide UTSW 19 37,330,499 (GRCm38) missense
R9239:Ide UTSW 19 37,330,499 (GRCm38) missense
R9280:Ide UTSW 19 37,330,402 (GRCm38) intron probably benign
R9280:Ide UTSW 19 37,318,091 (GRCm38) missense
R9290:Ide UTSW 19 37,325,248 (GRCm38) missense
R9507:Ide UTSW 19 37,288,137 (GRCm38) missense
R9594:Ide UTSW 19 37,287,115 (GRCm38) missense
Z1176:Ide UTSW 19 37,315,491 (GRCm38) missense
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-06-15