Incidental Mutation 'R4260:Ide'
ID 368354
Institutional Source Beutler Lab
Gene Symbol Ide
Ensembl Gene ENSMUSG00000056999
Gene Name insulin degrading enzyme
Synonyms 4833415K22Rik, 1300012G03Rik
MMRRC Submission 041073-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4260 (G1)
Quality Score 107
Status Validated
Chromosome 19
Chromosomal Location 37246142-37340010 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 37306585 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 63 (S63A)
Gene Model predicted gene model for transcript(s):
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000131070
AA Change: S63A
SMART Domains Protein: ENSMUSP00000121358
Gene: ENSMUSG00000056999
AA Change: S63A

DomainStartEndE-ValueType
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: ENSMUST00000154308
Meta Mutation Damage Score 0.1867 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 98% (50/51)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adnp2 G A 18: 80,180,742 (GRCm39) S52L possibly damaging Het
Best3 A T 10: 116,860,131 (GRCm39) M464L probably benign Het
Ccdc83 T G 7: 89,877,599 (GRCm39) D281A possibly damaging Het
Ccnf G A 17: 24,445,741 (GRCm39) P502S probably damaging Het
Cd109 T A 9: 78,543,745 (GRCm39) S96R possibly damaging Het
Cep290 A C 10: 100,350,354 (GRCm39) E649D probably damaging Het
Cntnap5a G T 1: 116,374,325 (GRCm39) A946S probably benign Het
Csnk2a2 A T 8: 96,184,027 (GRCm39) D177E probably benign Het
Cyld T C 8: 89,468,019 (GRCm39) S551P probably damaging Het
Degs1 A T 1: 182,106,806 (GRCm39) I151N probably benign Het
Dnah12 A G 14: 26,520,883 (GRCm39) I1901V probably benign Het
Eif2ak3 G A 6: 70,866,497 (GRCm39) R597H probably damaging Het
Epg5 A T 18: 78,002,336 (GRCm39) H585L possibly damaging Het
Epg5 G C 18: 78,058,914 (GRCm39) W1889C probably damaging Het
Fam220a G C 5: 143,548,762 (GRCm39) R58P possibly damaging Het
Gemin5 G A 11: 58,059,185 (GRCm39) A32V probably damaging Het
Gm11189 A C 11: 53,091,703 (GRCm39) noncoding transcript Het
Grb2 A G 11: 115,540,642 (GRCm39) I85T probably damaging Het
Herc1 CTGAGGACTCTTTG CTG 9: 66,355,630 (GRCm39) probably null Het
Kel A T 6: 41,663,357 (GRCm39) probably benign Het
Kifap3 C A 1: 163,689,597 (GRCm39) T527K probably damaging Het
Klra10 A G 6: 130,249,644 (GRCm39) W214R probably damaging Het
Luc7l3 A T 11: 94,186,876 (GRCm39) probably benign Het
Mrpl4 A G 9: 20,918,988 (GRCm39) E211G possibly damaging Het
Or4k39 T A 2: 111,238,850 (GRCm39) noncoding transcript Het
Or52n5 A C 7: 104,587,803 (GRCm39) E23D probably damaging Het
Pbld2 T C 10: 62,860,186 (GRCm39) probably benign Het
Plcg1 T C 2: 160,593,627 (GRCm39) probably null Het
Ppcs A G 4: 119,279,106 (GRCm39) F149L probably damaging Het
Ptpdc1 A G 13: 48,733,234 (GRCm39) M802T probably benign Het
Ptprf A G 4: 118,083,280 (GRCm39) F909S possibly damaging Het
Raph1 A T 1: 60,542,124 (GRCm39) M330K possibly damaging Het
Rprd1a G A 18: 24,621,352 (GRCm39) R276C possibly damaging Het
Scg3 A G 9: 75,558,979 (GRCm39) Y406H probably damaging Het
Setdb1 G A 3: 95,234,808 (GRCm39) S965F probably damaging Het
Sgo2b A T 8: 64,381,330 (GRCm39) F501I probably benign Het
Slc38a4 A G 15: 96,896,374 (GRCm39) Y498H probably damaging Het
Slc5a4b A G 10: 75,939,686 (GRCm39) L150P probably damaging Het
Spata17 T A 1: 186,780,677 (GRCm39) T357S possibly damaging Het
Tmt1a A G 15: 100,210,951 (GRCm39) D141G probably benign Het
Zap70 T A 1: 36,818,189 (GRCm39) probably benign Het
Zfp985 G A 4: 147,668,029 (GRCm39) C299Y probably damaging Het
Other mutations in Ide
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00422:Ide APN 19 37,253,931 (GRCm39) missense unknown
IGL01924:Ide APN 19 37,249,563 (GRCm39) missense unknown
IGL01925:Ide APN 19 37,255,296 (GRCm39) missense unknown
IGL02616:Ide APN 19 37,275,455 (GRCm39) missense unknown
R0738:Ide UTSW 19 37,255,364 (GRCm39) nonsense probably null
R1509:Ide UTSW 19 37,262,603 (GRCm39) critical splice donor site probably null
R1557:Ide UTSW 19 37,258,160 (GRCm39) splice site probably null
R2935:Ide UTSW 19 37,302,706 (GRCm39) missense unknown
R4261:Ide UTSW 19 37,306,585 (GRCm39) missense unknown
R4575:Ide UTSW 19 37,249,604 (GRCm39) missense unknown
R4913:Ide UTSW 19 37,306,469 (GRCm39) missense unknown
R4933:Ide UTSW 19 37,255,155 (GRCm39) missense unknown
R4951:Ide UTSW 19 37,262,631 (GRCm39) missense unknown
R5102:Ide UTSW 19 37,292,383 (GRCm39) missense unknown
R5474:Ide UTSW 19 37,249,583 (GRCm39) missense unknown
R5502:Ide UTSW 19 37,307,855 (GRCm39) missense unknown
R5546:Ide UTSW 19 37,249,623 (GRCm39) missense unknown
R5601:Ide UTSW 19 37,292,379 (GRCm39) missense unknown
R5696:Ide UTSW 19 37,295,420 (GRCm39) missense unknown
R5884:Ide UTSW 19 37,249,552 (GRCm39) critical splice donor site probably null
R5983:Ide UTSW 19 37,249,549 (GRCm39) splice site probably null
R6286:Ide UTSW 19 37,255,409 (GRCm39) missense unknown
R7146:Ide UTSW 19 37,273,343 (GRCm39) missense
R7224:Ide UTSW 19 37,268,160 (GRCm39) missense
R7234:Ide UTSW 19 37,268,184 (GRCm39) missense
R7695:Ide UTSW 19 37,306,435 (GRCm39) missense
R7771:Ide UTSW 19 37,275,525 (GRCm39) missense
R7811:Ide UTSW 19 37,307,910 (GRCm39) missense
R7893:Ide UTSW 19 37,261,550 (GRCm39) missense
R8289:Ide UTSW 19 37,290,953 (GRCm39) missense probably null
R8289:Ide UTSW 19 37,290,952 (GRCm39) missense
R8359:Ide UTSW 19 37,307,886 (GRCm39) missense
R8421:Ide UTSW 19 37,255,403 (GRCm39) missense
R8828:Ide UTSW 19 37,292,241 (GRCm39) missense
R8979:Ide UTSW 19 37,302,711 (GRCm39) missense
R9134:Ide UTSW 19 37,273,561 (GRCm39) intron probably benign
R9142:Ide UTSW 19 37,307,898 (GRCm39) missense
R9229:Ide UTSW 19 37,261,598 (GRCm39) missense
R9237:Ide UTSW 19 37,307,898 (GRCm39) missense
R9239:Ide UTSW 19 37,307,898 (GRCm39) missense
R9280:Ide UTSW 19 37,307,801 (GRCm39) intron probably benign
R9280:Ide UTSW 19 37,295,490 (GRCm39) missense
R9290:Ide UTSW 19 37,302,647 (GRCm39) missense
R9507:Ide UTSW 19 37,265,536 (GRCm39) missense
R9594:Ide UTSW 19 37,264,514 (GRCm39) missense
Z1176:Ide UTSW 19 37,292,890 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- GCTCCTTCCAAGTGTTCATGG -3'
(R):5'- TGTTGCCCCTAAGTGATGTCC -3'

Sequencing Primer
(F):5'- CCTTCCAAGTGTTCATGGGAAAC -3'
(R):5'- CTAAGTGATGTCCGGGCAG -3'
Posted On 2016-01-29