Mutagenetix > Incidental Mutation

Incidental Mutation 'R5502:Ide'

430705

Institutional Source

Beutler Lab

Gene Symbol

Ide

Ensembl Gene

ENSMUSG00000056999

Gene Name

insulin degrading enzyme

Synonyms

4833415K22Rik, 1300012G03Rik

MMRRC Submission

043063-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5502 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

37246142-37340010 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 37307855 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 52 (K52N)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000131070
AA Change: K52N

SMART Domains

Protein: ENSMUSP00000121358
Gene: ENSMUSG00000056999
AA Change: K52N

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 98.2%
3x: 97.3%
10x: 95.0%
20x: 90.2%

Validation Efficiency

98% (84/86)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Abcc8	A	G	7: 45,758,262 (GRCm39)	I1268T	probably benign	Het
Accsl	C	T	2: 93,687,289 (GRCm39)		probably null	Het
Actmap	A	G	7: 26,896,542 (GRCm39)	D35G	possibly damaging	Het
Ank3	A	T	10: 69,756,291 (GRCm39)	I842F	probably benign	Het
Bbs9	T	A	9: 22,415,370 (GRCm39)	L98Q	probably damaging	Het
Bin2	A	G	15: 100,543,286 (GRCm39)	V299A	probably benign	Het
Cabp4	G	A	19: 4,181,228 (GRCm39)		probably benign	Het
Ces2f	A	T	8: 105,679,155 (GRCm39)	H324L	possibly damaging	Het
Chd4	G	A	6: 125,082,239 (GRCm39)	R576Q	possibly damaging	Het
Cndp1	A	G	18: 84,650,138 (GRCm39)	V185A	possibly damaging	Het
Cntn3	A	C	6: 102,242,295 (GRCm39)	V450G	possibly damaging	Het
Col5a2	C	A	1: 45,419,286 (GRCm39)	G1265W	probably damaging	Het
Corin	G	A	5: 72,473,449 (GRCm39)	Q754*	probably null	Het
Cyp4a10	A	G	4: 115,382,702 (GRCm39)	N291S	probably benign	Het
Dap3	T	C	3: 88,832,633 (GRCm39)	Y353C	probably damaging	Het
Disp1	A	G	1: 182,869,450 (GRCm39)	V990A	probably damaging	Het
Dock9	A	T	14: 121,847,594 (GRCm39)		probably null	Het
Dop1b	T	A	16: 93,590,114 (GRCm39)	V179E	probably benign	Het
Eps15l1	A	T	8: 73,132,836 (GRCm39)		probably null	Het
Fyb2	A	T	4: 104,802,521 (GRCm39)	Q141L	probably damaging	Het
Gemin4	A	T	11: 76,104,227 (GRCm39)	L178*	probably null	Het
Gm15446	A	T	5: 110,088,364 (GRCm39)	K25*	probably null	Het
Gm17067	A	T	7: 42,357,843 (GRCm39)	C220S	probably damaging	Het
Gm4868	A	G	5: 125,925,042 (GRCm39)		noncoding transcript	Het
Golga4	GT	GTT	9: 118,388,125 (GRCm39)		probably null	Het
Gria2	T	C	3: 80,614,252 (GRCm39)	N596S	probably damaging	Het
Hoxb4	A	G	11: 96,211,057 (GRCm39)	D219G	probably damaging	Het
Htr1b	T	A	9: 81,513,854 (GRCm39)	Q251L	possibly damaging	Het
Ibtk	A	C	9: 85,602,916 (GRCm39)	S696R	probably benign	Het
Incenp	C	A	19: 9,870,728 (GRCm39)	L300F	unknown	Het
Ino80	T	C	2: 119,232,877 (GRCm39)	Y1147C	probably damaging	Het
Mme	T	A	3: 63,207,702 (GRCm39)	Y49*	probably null	Het
Mmp15	A	T	8: 96,094,812 (GRCm39)	T229S	possibly damaging	Het
Mtmr4	A	T	11: 87,504,904 (GRCm39)	N1133I	probably damaging	Het
Mycbp2	C	T	14: 103,411,250 (GRCm39)	G284R	probably damaging	Het
Myo3a	T	C	2: 22,448,381 (GRCm39)	I52T	probably damaging	Het
Nat8f5	G	T	6: 85,794,635 (GRCm39)	F108L	probably damaging	Het
Nbeal1	T	A	1: 60,350,158 (GRCm39)	H2402Q	probably damaging	Het
Nexn	T	A	3: 151,943,941 (GRCm39)	E331D	probably damaging	Het
Nktr	C	T	9: 121,577,672 (GRCm39)		probably benign	Het
Oaz3	T	C	3: 94,342,392 (GRCm39)	D88G	probably damaging	Het
Or1n1	T	C	2: 36,750,282 (GRCm39)	Y26C	probably damaging	Het
Or4l1	A	G	14: 50,166,993 (GRCm39)	Y3H	probably benign	Het
Pcdhb9	A	T	18: 37,534,656 (GRCm39)	T217S	possibly damaging	Het
Pcdhga2	A	T	18: 37,803,605 (GRCm39)	D483V	possibly damaging	Het
Pde5a	G	T	3: 122,596,681 (GRCm39)	G456V	probably damaging	Het
Qser1	T	C	2: 104,616,919 (GRCm39)	T1298A	probably benign	Het
Rapgef5	T	C	12: 117,685,064 (GRCm39)	V303A	probably damaging	Het
Rbbp6	T	G	7: 122,587,947 (GRCm39)	M267R	probably damaging	Het
Rfx8	C	A	1: 39,722,113 (GRCm39)	V291F	probably damaging	Het
Rnf121	T	C	7: 101,672,555 (GRCm39)	K276R	probably null	Het
Rtca	G	T	3: 116,282,931 (GRCm39)	Y352*	probably null	Het
Rusf1	C	T	7: 127,884,308 (GRCm39)	V225M	probably damaging	Het
Sacs	T	C	14: 61,443,549 (GRCm39)	V1865A	probably damaging	Het
Sclt1	C	T	3: 41,611,710 (GRCm39)	E521K	probably benign	Het
Setd1a	T	C	7: 127,396,420 (GRCm39)		probably null	Het
Slc37a4	G	T	9: 44,313,394 (GRCm39)	V337L	probably benign	Het
Slc5a9	G	T	4: 111,750,366 (GRCm39)	S79*	probably null	Het
Snrpd2	T	C	7: 18,885,247 (GRCm39)	V36A	probably benign	Het
Spata31d1b	A	T	13: 59,864,486 (GRCm39)	N545Y	probably damaging	Het
Sstr4	CGAGGAGGAGGAGGA	CGAGGAGGAGGAGGAGGA	2: 148,237,471 (GRCm39)		probably benign	Het
St7	G	A	6: 17,834,673 (GRCm39)	V98I	possibly damaging	Het
Strip2	A	T	6: 29,927,623 (GRCm39)	I223F	probably benign	Het
Syn2	A	C	6: 115,255,313 (GRCm39)	N542H	possibly damaging	Het
Tbc1d2b	T	C	9: 90,109,496 (GRCm39)	T327A	probably benign	Het
Timm44	A	T	8: 4,319,992 (GRCm39)	F59I	possibly damaging	Het
Tmem41b	A	T	7: 109,581,970 (GRCm39)	C44*	probably null	Het
Tob1	ACAGCAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCAGCA	11: 94,105,278 (GRCm39)		probably benign	Het
Tusc3	A	T	8: 39,597,947 (GRCm39)	K188*	probably null	Het
Usp39	T	A	6: 72,305,670 (GRCm39)	Q371L	probably benign	Het
Vmn2r13	G	T	5: 109,321,580 (GRCm39)	N372K	probably damaging	Het
Zfp961	T	A	8: 72,721,903 (GRCm39)	Y139N	probably damaging	Het

Other mutations in Ide

Allele	Source	Chr	Coord	Type	Predicted Effect
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
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'- AAGCCTTACAGGACCCTATCAG -3'
(R):5'- GAGCAGTTACTGTATAACAACTATCC -3'

Sequencing Primer
(F):5'- AGGACCCTATCAGATGTGTTCCAG -3'
(R):5'- CTTTTCTTTCCAGATTCCCAAAACAG -3'

Posted On

2016-10-05