Incidental Mutation 'IGL02383:Itm2b'
ID 291456
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: 0.278) question?
Stock # IGL02383
Quality Score
Status
Chromosome 14
Chromosomal Location 73599666-73622729 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 73600536 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 255 (E255*)
Ref Sequence ENSEMBL: ENSMUSP00000022704 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022704] [ENSMUST00000227454]
AlphaFold O89051
Predicted Effect probably null
Transcript: ENSMUST00000022704
AA Change: E255*
SMART Domains Protein: ENSMUSP00000022704
Gene: ENSMUSG00000022108
AA Change: E255*

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5530400C23Rik T C 6: 133,269,205 (GRCm39) probably benign Het
Adap2 C A 11: 80,051,015 (GRCm39) A115D probably damaging Het
Ankrd1 A G 19: 36,097,165 (GRCm39) V6A probably benign Het
Apobr T A 7: 126,185,779 (GRCm39) V430E probably benign Het
Arhgap28 A G 17: 68,203,084 (GRCm39) V123A probably benign Het
Atp2b2 A G 6: 113,790,903 (GRCm39) V167A probably damaging Het
B3galnt2 A T 13: 14,171,618 (GRCm39) *505C probably null Het
Bcat2 T A 7: 45,237,431 (GRCm39) L305Q probably damaging Het
Coa8 T A 12: 111,690,847 (GRCm39) probably benign Het
Col9a1 T C 1: 24,224,339 (GRCm39) S174P unknown Het
Ddx41 A T 13: 55,680,170 (GRCm39) D418E probably benign Het
Defa40 A G 8: 21,740,377 (GRCm39) D61G probably damaging Het
Exoc6 T C 19: 37,566,922 (GRCm39) F240L probably benign Het
Fbln7 G A 2: 128,737,477 (GRCm39) V431I probably benign Het
Gfral T A 9: 76,104,374 (GRCm39) N213Y probably damaging Het
Golgb1 A G 16: 36,706,562 (GRCm39) D22G probably benign Het
H2-M1 G A 17: 36,981,141 (GRCm39) T298I unknown Het
Haus3 A T 5: 34,323,580 (GRCm39) Y343* probably null Het
Hid1 T C 11: 115,243,446 (GRCm39) E534G probably damaging Het
Il4ra T C 7: 125,170,676 (GRCm39) V196A probably benign Het
Kidins220 A T 12: 25,047,332 (GRCm39) probably benign Het
Klhl22 T A 16: 17,594,762 (GRCm39) F297Y possibly damaging Het
Krt9 T C 11: 100,082,041 (GRCm39) E253G probably damaging Het
Man2a2 G A 7: 80,009,388 (GRCm39) A822V probably damaging Het
Map3k6 T A 4: 132,973,932 (GRCm39) probably null Het
Med29 C A 7: 28,086,448 (GRCm39) R120L possibly damaging Het
Napa C T 7: 15,846,503 (GRCm39) probably benign Het
Ncapd3 T A 9: 26,961,624 (GRCm39) Y351N probably benign Het
Nphs1 C T 7: 30,181,060 (GRCm39) probably benign Het
Or5b94 A G 19: 12,651,899 (GRCm39) D110G probably benign Het
Prss16 T C 13: 22,193,697 (GRCm39) I33V probably benign Het
Ripk1 A G 13: 34,199,227 (GRCm39) Y193C probably damaging Het
Rph3a C T 5: 121,102,002 (GRCm39) R78H probably damaging Het
Rrp9 T A 9: 106,362,471 (GRCm39) I452N probably damaging Het
Ryr2 A T 13: 11,737,607 (GRCm39) probably benign Het
Sec23a A G 12: 59,048,813 (GRCm39) L103P probably damaging Het
Slc17a9 A C 2: 180,377,674 (GRCm39) D190A probably benign Het
Slc44a4 G A 17: 35,146,686 (GRCm39) V422I probably benign Het
Smc5 C T 19: 23,191,996 (GRCm39) probably benign Het
Tax1bp1 C T 6: 52,730,351 (GRCm39) S611F probably benign Het
Tmem38b G A 4: 53,854,345 (GRCm39) M192I probably benign Het
Unc45a G T 7: 79,989,410 (GRCm39) C34* probably null Het
Usp46 T A 5: 74,190,014 (GRCm39) M6L probably benign Het
Uspl1 G A 5: 149,150,212 (GRCm39) V471M probably damaging Het
Vmn1r35 T A 6: 66,655,875 (GRCm39) Q265L probably damaging Het
Vmn1r35 G T 6: 66,655,876 (GRCm39) Q265K probably damaging Het
Vmn1r50 A G 6: 90,084,461 (GRCm39) I69V possibly damaging Het
Vps33b A G 7: 79,935,082 (GRCm39) probably null Het
Xntrpc A C 7: 101,742,802 (GRCm39) D604A probably damaging Het
Yeats4 T A 10: 117,051,716 (GRCm39) R180S probably benign 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
IGL02006:Itm2b APN 14 73,600,488 (GRCm39) unclassified probably benign
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 2015-04-16