Incidental Mutation 'IGL00864:Itm2b'
ID12685
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Itm2b
Ensembl Gene ENSMUSG00000022108
Gene Nameintegral membrane protein 2B
SynonymsBri2, D14Sel6, Bricd2b
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.234) question?
Stock #IGL00864
Quality Score
Status
Chromosome14
Chromosomal Location73362226-73385289 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 73363135 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 242 (K242E)
Ref Sequence ENSEMBL: ENSMUSP00000022704 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022704] [ENSMUST00000227454]
Predicted Effect probably damaging
Transcript: ENSMUST00000022704
AA Change: K242E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022704
Gene: ENSMUSG00000022108
AA Change: K242E

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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T C 4: 103,235,698 D142G probably damaging Het
Ap2b1 A C 11: 83,333,158 D195A probably damaging Het
Asxl3 T A 18: 22,522,446 I1171K probably benign Het
Atm T C 9: 53,533,933 S2G probably damaging Het
Crygd C T 1: 65,062,091 R115Q probably benign Het
Ephx1 A G 1: 180,990,451 S356P probably damaging Het
H1foo A G 6: 115,948,626 K128R probably damaging Het
Il12rb2 A G 6: 67,336,754 I6T probably benign Het
Kcnq5 T A 1: 21,505,763 Q239L probably damaging Het
Lmbrd2 T C 15: 9,175,210 S403P probably damaging Het
Ola1 A T 2: 73,156,897 D130E probably benign Het
Opcml G A 9: 28,901,590 E193K probably damaging Het
Opcml A C 9: 28,901,591 E193A probably damaging Het
Rab44 T C 17: 29,139,737 S300P probably benign Het
Sergef C A 7: 46,515,663 probably null Het
Slc6a2 T C 8: 92,995,994 F540L probably benign Het
Spag6l A G 16: 16,780,733 V298A probably benign Het
Svep1 G T 4: 58,068,533 Y3084* probably null Het
Tbc1d4 T A 14: 101,444,566 D1235V probably benign Het
Tlr9 T C 9: 106,225,007 L499P probably damaging Het
Ttn G A 2: 76,713,834 S24609F probably damaging Het
Other mutations in Itm2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00857:Itm2b APN 14 73364616 missense probably benign
IGL02006:Itm2b APN 14 73363048 unclassified probably benign
IGL02383:Itm2b APN 14 73363096 nonsense probably null
IGL03190:Itm2b APN 14 73365789 missense probably damaging 1.00
IGL03202:Itm2b APN 14 73365789 missense probably damaging 1.00
R0194:Itm2b UTSW 14 73364618 missense probably benign 0.22
R0699:Itm2b UTSW 14 73364625 missense probably damaging 1.00
R2068:Itm2b UTSW 14 73363135 missense probably damaging 1.00
R2077:Itm2b UTSW 14 73363120 missense probably benign
R6821:Itm2b UTSW 14 73366467 missense probably benign 0.00
R7151:Itm2b UTSW 14 73368389 start gained probably benign
R7290:Itm2b UTSW 14 73368345 missense probably damaging 1.00
Posted On2012-12-06