Mutagenetix > Incidental Mutation

Incidental Mutation 'R9229:Ide'

700138

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 #

R9229 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37246142-37340010 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37261598 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 715 (T715A)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000121358
Gene: ENSMUSG00000056999
AA Change: T715A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (77/79)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr10	A	G	12: 70,990,259 (GRCm39)	T104A	probably damaging	Het
Agbl1	G	A	7: 76,774,270 (GRCm39)	V1065I	unknown	Het
Agpat1	G	T	17: 34,830,663 (GRCm39)	V196L	probably null	Het
Agxt2	T	A	15: 10,409,597 (GRCm39)	V499E	probably damaging	Het
Amy2a1	T	A	3: 113,325,955 (GRCm39)		probably benign	Het
Ankrd35	A	G	3: 96,592,215 (GRCm39)	T834A	probably benign	Het
Arhgef18	T	A	8: 3,479,314 (GRCm39)	S51T	probably benign	Het
Armc12	A	C	17: 28,751,345 (GRCm39)	D113A	probably benign	Het
Azin1	T	A	15: 38,490,646 (GRCm39)	I436F	probably benign	Het
B3galnt2	T	C	13: 14,166,107 (GRCm39)	V334A	probably damaging	Het
Ccdc68	C	T	18: 70,080,203 (GRCm39)	H183Y	probably benign	Het
Cd180	TA	TAA	13: 102,841,514 (GRCm39)		probably null	Het
Cemip	A	T	7: 83,606,833 (GRCm39)	W795R	probably damaging	Het
Cenpj	C	T	14: 56,802,176 (GRCm39)	E130K	possibly damaging	Het
Ciao1	G	C	2: 127,089,062 (GRCm39)	C52W	probably damaging	Het
Cmya5	A	G	13: 93,232,176 (GRCm39)	S971P	possibly damaging	Het
Cnot2	A	T	10: 116,384,960 (GRCm39)	L9*	probably null	Het
Coro1c	G	T	5: 114,003,747 (GRCm39)	H91N	probably damaging	Het
Crbn	A	T	6: 106,777,017 (GRCm39)	M1K	probably null	Het
Ctsb	T	A	14: 63,373,112 (GRCm39)	W90R	probably damaging	Het
Ctse	A	G	1: 131,595,862 (GRCm39)	I185V	probably damaging	Het
Dennd1b	G	T	1: 138,981,100 (GRCm39)	E105*	probably null	Het
Eif4a3l1	A	G	6: 136,306,141 (GRCm39)	I201V	possibly damaging	Het
Exoc5	G	A	14: 49,251,710 (GRCm39)	Q679*	probably null	Het
Firrm	A	T	1: 163,794,659 (GRCm39)	W512R	probably damaging	Het
Gabrg3	G	A	7: 56,374,268 (GRCm39)	R433C	probably damaging	Het
Gria2	C	A	3: 80,709,689 (GRCm39)	M1I	probably null	Het
H1f6	T	C	13: 23,880,029 (GRCm39)	S61P	probably damaging	Het
Hoxb6	A	T	11: 96,191,645 (GRCm39)	Q189L	probably damaging	Het
Hoxd10	A	G	2: 74,524,600 (GRCm39)	N304S	possibly damaging	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Htra4	A	T	8: 25,528,557 (GRCm39)	C112S	probably damaging	Het
Ipo13	A	T	4: 117,758,801 (GRCm39)	I688N	probably damaging	Het
Irs2	A	C	8: 11,057,400 (GRCm39)	L344R	probably damaging	Het
Kat6a	A	G	8: 23,429,987 (GRCm39)	T1781A	unknown	Het
Lin7a	G	T	10: 107,247,844 (GRCm39)	V172L	probably damaging	Het
Lpcat1	G	T	13: 73,653,650 (GRCm39)	E282D	probably damaging	Het
Mcf2l	A	G	8: 13,063,584 (GRCm39)	T963A	probably benign	Het
Mfsd14a	G	A	3: 116,439,118 (GRCm39)	A128V	probably benign	Het
Mfsd6	C	G	1: 52,747,903 (GRCm39)	G321R	probably damaging	Het
Mill2	C	T	7: 18,590,475 (GRCm39)	T185I	probably damaging	Het
Mpped1	C	T	15: 83,738,673 (GRCm39)	T270I	possibly damaging	Het
Mrtfb	G	T	16: 13,230,185 (GRCm39)	A957S	possibly damaging	Het
Myh9	T	A	15: 77,675,017 (GRCm39)	Y300F	possibly damaging	Het
Nlrp2	T	A	7: 5,304,052 (GRCm39)	T953S	possibly damaging	Het
Nlrp4e	T	A	7: 23,020,799 (GRCm39)	S429T	probably benign	Het
Nphp3	T	A	9: 103,913,376 (GRCm39)	Y1003N	probably damaging	Het
Nrap	T	C	19: 56,310,339 (GRCm39)	K1588R	probably benign	Het
Odad2	C	A	18: 7,127,324 (GRCm39)	R963L	possibly damaging	Het
Or10ag56	G	A	2: 87,139,165 (GRCm39)	V31I	probably benign	Het
Or5b124	T	A	19: 13,611,414 (GRCm39)	V313D	probably damaging	Het
Pam	A	G	1: 97,753,660 (GRCm39)	V870A	probably benign	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pierce1	C	A	2: 28,352,390 (GRCm39)	M124I	probably damaging	Het
Plin3	A	T	17: 56,591,315 (GRCm39)	V155E	probably damaging	Het
Pmepa1	T	C	2: 173,117,962 (GRCm39)	T6A	probably benign	Het
Pnpla7	G	A	2: 24,873,503 (GRCm39)	V170I	probably damaging	Het
Pramel34	A	T	5: 93,784,089 (GRCm39)	C458*	probably null	Het
Ptprz1	A	G	6: 22,986,283 (GRCm39)	H361R	probably null	Het
Pvalb	T	A	15: 78,086,767 (GRCm39)	I50F	possibly damaging	Het
Relch	A	T	1: 105,614,709 (GRCm39)	I218F	possibly damaging	Het
Rhag	G	A	17: 41,142,081 (GRCm39)	A175T	probably damaging	Het
Slc24a4	T	C	12: 102,200,983 (GRCm39)	V291A	possibly damaging	Het
Slc9b2	G	A	3: 135,042,295 (GRCm39)	E525K	probably benign	Het
Smg7	A	G	1: 152,720,971 (GRCm39)	F747S	possibly damaging	Het
Sorcs1	T	G	19: 50,141,300 (GRCm39)	I1144L	probably benign	Het
Sox1	A	T	8: 12,447,390 (GRCm39)	I344F	possibly damaging	Het
Speer4e2	A	T	5: 15,027,718 (GRCm39)	S53T	probably benign	Het
Spta1	A	T	1: 174,067,750 (GRCm39)	E2059V	probably damaging	Het
Sva	T	A	6: 42,017,050 (GRCm39)	N52K	possibly damaging	Het
Sva	T	A	6: 42,017,052 (GRCm39)	M53K	probably benign	Het
Thsd7b	A	G	1: 129,849,027 (GRCm39)	Y913C	probably damaging	Het
Tiam1	A	G	16: 89,634,719 (GRCm39)	S864P	possibly damaging	Het
Tma16	A	G	8: 66,936,779 (GRCm39)	V16A	probably benign	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Treml1	A	G	17: 48,673,774 (GRCm39)	S262G	probably benign	Het
Ttn	A	T	2: 76,597,797 (GRCm39)	D19705E	probably benign	Het
Utp20	A	G	10: 88,594,239 (GRCm39)	L2162P	possibly damaging	Het
Vmn2r60	A	G	7: 41,791,723 (GRCm39)	I549V	possibly damaging	Het
Xpo4	T	C	14: 57,851,156 (GRCm39)	N329S	probably benign	Het
Zfp879	T	A	11: 50,723,886 (GRCm39)	H390L	probably damaging	Het
Zranb1	C	T	7: 132,583,117 (GRCm39)	S512F	probably damaging	Het
Zswim8	A	G	14: 20,766,393 (GRCm39)	H847R	probably benign	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
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
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'- TCCTGTAGATCTCTGACATGAAACC -3'
(R):5'- CCCTGTGTCAGCACTATGTG -3'

Sequencing Primer
(F):5'- ACCATATATTATTTCCAAGCACACTC -3'
(R):5'- CGTCAGATCACATTGCAGATG -3'

Posted On

2022-02-07