Incidental Mutation 'IGL02006:Itm2b'
ID 183212
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Itm2b
Ensembl Gene ENSMUSG00000022108
Gene Name integral membrane protein 2B
Synonyms Bri2, D14Sel6, Bricd2b
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.342) question?
Stock # IGL02006
Quality Score
Status
Chromosome 14
Chromosomal Location 73599666-73622729 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 73600488 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153948 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022704] [ENSMUST00000227454]
AlphaFold O89051
Predicted Effect probably benign
Transcript: ENSMUST00000022704
SMART Domains Protein: ENSMUSP00000022704
Gene: ENSMUSG00000022108

DomainStartEndE-ValueType
transmembrane domain 52 74 N/A INTRINSIC
BRICHOS 137 231 3.32e-34 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226722
Predicted Effect probably benign
Transcript: ENSMUST00000227454
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228707
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Amyloid precursor proteins are processed by beta-secretase and gamma-secretase to produce beta-amyloid peptides which form the characteristic plaques of Alzheimer disease. This gene encodes a transmembrane protein which is processed at the C-terminus by furin or furin-like proteases to produce a small secreted peptide which inhibits the deposition of beta-amyloid. Mutations which result in extension of the C-terminal end of the encoded protein, thereby increasing the size of the secreted peptide, are associated with two neurogenerative diseases, familial British dementia and familial Danish dementia. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a null mutation display increased levels of soluble APP fragments in the brain. Mice homozygous for a knock-in allele exhibit impaired oject recognition, impaired contextual conditioning, and impaired spatial working memory. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 G A 4: 86,117,582 (GRCm39) G182S probably damaging Het
Akr1b7 A T 6: 34,392,385 (GRCm39) N66I probably benign Het
Arrdc3 T A 13: 81,031,893 (GRCm39) I42N probably damaging Het
Atp6v0d2 G T 4: 19,878,325 (GRCm39) A316E probably damaging Het
Atp8a2 A G 14: 60,094,497 (GRCm39) V847A possibly damaging Het
Ccdc171 A G 4: 83,713,479 (GRCm39) N1173D possibly damaging Het
Crb2 A C 2: 37,676,475 (GRCm39) D152A probably damaging Het
Ecm1 T C 3: 95,641,557 (GRCm39) E559G probably damaging Het
Ephb1 A G 9: 102,071,971 (GRCm39) probably null Het
Fndc11 C A 2: 180,863,884 (GRCm39) R230S probably damaging Het
Frem1 A G 4: 82,911,037 (GRCm39) probably null Het
Fyco1 G A 9: 123,658,896 (GRCm39) Q427* probably null Het
Gm17541 A G 12: 4,739,619 (GRCm39) probably benign Het
Gm5431 C T 11: 48,779,330 (GRCm39) V809M probably damaging Het
Gm7293 A G 9: 51,534,043 (GRCm39) noncoding transcript Het
Ift52 T C 2: 162,865,289 (GRCm39) S47P probably benign Het
Iqcf6 A G 9: 106,504,510 (GRCm39) D58G probably benign Het
Jakmip1 T C 5: 37,278,331 (GRCm39) I536T probably damaging Het
Kcnh1 T G 1: 191,873,323 (GRCm39) M3R possibly damaging Het
Kcnh5 G T 12: 74,944,322 (GRCm39) P976T probably damaging Het
Layn G A 9: 50,968,591 (GRCm39) probably benign Het
Lrrc37a T A 11: 103,347,317 (GRCm39) Q3126L probably damaging Het
Meioc A T 11: 102,565,092 (GRCm39) D180V probably damaging Het
Myo15a T A 11: 60,401,954 (GRCm39) C3066S probably damaging Het
Nbeal1 T C 1: 60,311,418 (GRCm39) probably null Het
Negr1 T C 3: 156,721,810 (GRCm39) probably benign Het
Nek1 T A 8: 61,557,226 (GRCm39) N940K probably benign Het
Nfkbib A T 7: 28,465,667 (GRCm39) probably null Het
Nol4 T A 18: 23,054,975 (GRCm39) T152S probably damaging Het
Oas3 G T 5: 120,907,300 (GRCm39) R446S probably benign Het
Oosp3 C T 19: 11,676,784 (GRCm39) L48F probably damaging Het
Or2r3 A G 6: 42,449,025 (GRCm39) V29A probably benign Het
Or2w25 T C 11: 59,503,985 (GRCm39) L65P probably damaging Het
Pik3ap1 C A 19: 41,291,032 (GRCm39) W500L probably benign Het
Ppih A G 4: 119,168,779 (GRCm39) probably benign Het
Ro60 G T 1: 143,636,084 (GRCm39) probably benign Het
Slc7a15 T C 12: 8,585,508 (GRCm39) probably null Het
Srl T C 16: 4,315,150 (GRCm39) E164G probably benign Het
Tbx10 C A 19: 4,048,186 (GRCm39) T237K probably damaging Het
Vwa5b2 T C 16: 20,415,843 (GRCm39) V392A probably damaging Het
Wfdc5 A T 2: 164,024,483 (GRCm39) probably benign Het
Xirp2 T C 2: 67,342,306 (GRCm39) F1516L possibly damaging Het
Znfx1 A G 2: 166,897,683 (GRCm39) C414R probably damaging Het
Other mutations in Itm2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00857:Itm2b APN 14 73,602,056 (GRCm39) missense probably benign
IGL00864:Itm2b APN 14 73,600,575 (GRCm39) missense probably damaging 1.00
IGL02383:Itm2b APN 14 73,600,536 (GRCm39) nonsense probably null
IGL03190:Itm2b APN 14 73,603,229 (GRCm39) missense probably damaging 1.00
IGL03202:Itm2b APN 14 73,603,229 (GRCm39) missense probably damaging 1.00
R0194:Itm2b UTSW 14 73,602,058 (GRCm39) missense probably benign 0.22
R0699:Itm2b UTSW 14 73,602,065 (GRCm39) missense probably damaging 1.00
R2068:Itm2b UTSW 14 73,600,575 (GRCm39) missense probably damaging 1.00
R2077:Itm2b UTSW 14 73,600,560 (GRCm39) missense probably benign
R6821:Itm2b UTSW 14 73,603,907 (GRCm39) missense probably benign 0.00
R7151:Itm2b UTSW 14 73,605,829 (GRCm39) start gained probably benign
R7290:Itm2b UTSW 14 73,605,785 (GRCm39) missense probably damaging 1.00
R9019:Itm2b UTSW 14 73,605,856 (GRCm39) start gained probably benign
R9077:Itm2b UTSW 14 73,605,865 (GRCm39) missense probably benign 0.04
R9300:Itm2b UTSW 14 73,603,896 (GRCm39) missense probably benign
Posted On 2014-05-07