Incidental Mutation 'R9290:Ide'
ID 704244
Institutional Source Beutler Lab
Gene Symbol Ide
Ensembl Gene ENSMUSG00000056999
Gene Name insulin degrading enzyme
Synonyms 4833415K22Rik, 1300012G03Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9290 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 37246142-37340010 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 37302647 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 154 (D154E)
Gene Model predicted gene model for transcript(s):
AlphaFold no structure available at present
Predicted Effect
SMART Domains Protein: ENSMUSP00000121358
Gene: ENSMUSG00000056999
AA Change: D154E

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
Meta Mutation Damage Score 0.2190 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (67/68)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl2 A G 1: 156,457,538 (GRCm39) K268R probably damaging Het
Acvr1 T C 2: 58,338,330 (GRCm39) D464G probably damaging Het
Adra1d G T 2: 131,403,898 (GRCm39) T64K probably benign Het
Cct3 T C 3: 88,216,536 (GRCm39) V164A probably benign Het
Cdhr2 T C 13: 54,882,009 (GRCm39) V1153A possibly damaging Het
Cdkn2c A C 4: 109,518,512 (GRCm39) Y147* probably null Het
Ces1g A T 8: 94,029,545 (GRCm39) H562Q probably benign Het
Cfap221 A G 1: 119,853,381 (GRCm39) L771P probably benign Het
Chsy3 A G 18: 59,542,928 (GRCm39) M689V probably benign Het
Ciita T A 16: 10,326,513 (GRCm39) S235T probably damaging Het
Cracdl T A 1: 37,663,634 (GRCm39) R755W probably damaging Het
Dcdc2a A G 13: 25,386,313 (GRCm39) K396E probably benign Het
Dgki C T 6: 37,276,780 (GRCm39) C35Y unknown Het
Dnah11 C T 12: 117,991,251 (GRCm39) E2372K probably damaging Het
Dnai7 T C 6: 145,148,688 (GRCm39) E57G unknown Het
Eif3a A G 19: 60,765,221 (GRCm39) V322A probably damaging Het
Foxp2 A T 6: 15,197,120 (GRCm39) Q54L possibly damaging Het
Garin2 T A 12: 78,759,028 (GRCm39) V116E possibly damaging Het
Gm19410 T A 8: 36,269,386 (GRCm39) C1074S probably damaging Het
Gtf3c3 T G 1: 54,477,997 (GRCm39) E26A possibly damaging Het
Hps5 T C 7: 46,424,331 (GRCm39) E514G probably damaging Het
Insm1 T C 2: 146,065,273 (GRCm39) V363A probably benign Het
Iqgap2 A T 13: 95,886,523 (GRCm39) M120K probably damaging Het
Kcnh5 T A 12: 75,023,488 (GRCm39) I527F probably benign Het
Lrtm2 A G 6: 119,297,792 (GRCm39) L83P probably damaging Het
Map1a A G 2: 121,131,014 (GRCm39) E372G probably damaging Het
Mycbp2 A T 14: 103,425,960 (GRCm39) H2421Q probably damaging Het
Myh15 A G 16: 48,997,375 (GRCm39) E1731G probably damaging Het
Myt1 A T 2: 181,437,667 (GRCm39) H168L probably benign Het
Nxph4 A T 10: 127,362,546 (GRCm39) V115E probably damaging Het
Ofcc1 A T 13: 40,433,802 (GRCm39) I101N possibly damaging Het
Oog2 T C 4: 143,923,015 (GRCm39) F427L probably benign Het
Or4c115 A G 2: 88,928,076 (GRCm39) L65P probably damaging Het
Or4f14b A T 2: 111,774,967 (GRCm39) I278N possibly damaging Het
Or5w11 A G 2: 87,459,209 (GRCm39) N18S probably benign Het
Or8b48 T C 9: 38,493,334 (GRCm39) S254P probably damaging Het
Or8g27 A G 9: 39,129,531 (GRCm39) R293G probably damaging Het
Otop1 T G 5: 38,455,302 (GRCm39) I232S probably benign Het
Pak6 G A 2: 118,523,883 (GRCm39) R346Q probably damaging Het
Pbk A T 14: 66,054,713 (GRCm39) M282L probably benign Het
Pmpcb T C 5: 21,944,009 (GRCm39) probably null Het
Pou5f2 T A 13: 78,173,585 (GRCm39) W176R probably damaging Het
Prkra G T 2: 76,478,147 (GRCm39) S18R probably benign Het
Prune2 G T 19: 17,145,691 (GRCm39) A2764S probably benign Het
Ptpdc1 A T 13: 48,740,221 (GRCm39) D403E probably benign Het
Pxylp1 T C 9: 96,722,089 (GRCm39) E54G probably damaging Het
Rap1gap G A 4: 137,446,222 (GRCm39) A325T probably damaging Het
Raver2 G A 4: 100,977,387 (GRCm39) probably benign Het
Rbpj T C 5: 53,810,745 (GRCm39) V455A probably damaging Het
Rptor A T 11: 119,702,823 (GRCm39) I397F probably benign Het
Sacs G A 14: 61,421,499 (GRCm39) M148I probably benign Het
Sec16b A G 1: 157,373,816 (GRCm39) Q496R probably damaging Het
Sned1 C A 1: 93,199,385 (GRCm39) C488* probably null Het
Snupn G T 9: 56,882,547 (GRCm39) V187F possibly damaging Het
Sorcs2 T C 5: 36,183,225 (GRCm39) D1016G probably damaging Het
Spta1 T C 1: 174,045,204 (GRCm39) M1517T possibly damaging Het
Them4 G T 3: 94,231,630 (GRCm39) G156C probably damaging Het
Tnik T C 3: 28,675,124 (GRCm39) S721P probably benign Het
Trpm8 T C 1: 88,246,767 (GRCm39) S26P probably damaging Het
Ube2e3 A G 2: 78,750,324 (GRCm39) I183M probably damaging Het
Uhrf2 A G 19: 30,055,416 (GRCm39) Y389C probably damaging Het
Utp4 T A 8: 107,642,828 (GRCm39) D495E possibly damaging Het
Vill C A 9: 118,890,562 (GRCm39) N158K probably benign Het
Vmn1r219 G A 13: 23,347,399 (GRCm39) G196E probably damaging Het
Vmn2r101 C T 17: 19,811,395 (GRCm39) S493L probably benign Het
Vmn2r61 A G 7: 41,915,385 (GRCm39) T111A probably benign Het
Zbtb40 G T 4: 136,745,529 (GRCm39) A168E probably benign Het
Zscan18 A T 7: 12,508,054 (GRCm39) I482N 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
R4260:Ide UTSW 19 37,306,585 (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
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'- TTATGAAAATGCTGTGCAGGAG -3'
(R):5'- GAACACTGGTACTCTCTCCCAATC -3'

Sequencing Primer
(F):5'- CTGTGCAGGAGTGAGAGTC -3'
(R):5'- AGATCAGGCTGGTCTCTAACTCAG -3'
Posted On 2022-03-25