Incidental Mutation 'IGL00857:Itm2b'
ID11514
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? Possibly non essential (E-score: 0.296) question?
Stock #IGL00857
Quality Score
Status
Chromosome14
Chromosomal Location73362226-73385289 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 73364616 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 214 (N214S)
Ref Sequence ENSEMBL: ENSMUSP00000022704 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022704] [ENSMUST00000227454]
Predicted Effect probably benign
Transcript: ENSMUST00000022704
AA Change: N214S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022704
Gene: ENSMUSG00000022108
AA Change: N214S

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
8030411F24Rik A G 2: 148,782,250 D48G possibly damaging Het
Acr A G 15: 89,570,002 T181A probably benign Het
Anks3 T A 16: 4,953,929 H77L possibly damaging Het
Cacna1d A T 14: 30,350,681 N112K possibly damaging Het
Cd164 A G 10: 41,528,695 T150A probably benign Het
Cfap57 C T 4: 118,612,923 probably null Het
Cntnap2 C A 6: 47,049,424 N61K probably benign Het
Cyp4f39 A G 17: 32,489,657 I393V probably benign Het
Dcaf11 A T 14: 55,561,285 probably benign Het
Defb7 G A 8: 19,497,578 R33Q possibly damaging Het
Dmxl2 T C 9: 54,376,320 Y2743C probably benign Het
Enpp2 A G 15: 54,875,650 probably null Het
Fam135b T A 15: 71,463,616 E576D probably benign Het
Fam46a C A 9: 85,324,753 V331L possibly damaging Het
Gfpt1 T A 6: 87,056,163 N123K probably damaging Het
Hnmt T C 2: 24,003,783 D233G probably benign Het
Hsd3b2 T A 3: 98,711,543 E362V possibly damaging Het
Hsdl2 T A 4: 59,617,735 N487K probably benign Het
Hspa14 T C 2: 3,502,759 Y83C probably damaging Het
Krt86 C T 15: 101,473,860 H104Y probably benign Het
Myocd A T 11: 65,178,836 V726D possibly damaging Het
Ncapg T A 5: 45,676,585 probably null Het
Nrd1 A T 4: 109,054,002 I774F probably damaging Het
Pot1a T C 6: 25,744,628 I626V probably benign Het
Prkab2 C T 3: 97,662,343 A75V possibly damaging Het
Sdr9c7 A G 10: 127,898,859 Q72R probably benign Het
Slc16a7 A C 10: 125,230,934 Y279D probably benign Het
Slc8a1 T A 17: 81,647,879 T577S probably benign Het
Slitrk3 G A 3: 73,049,841 L533F probably damaging Het
Tmeff1 T C 4: 48,610,435 V102A probably damaging Het
Ttn G A 2: 76,752,755 T22598I probably damaging Het
Ube4a C A 9: 44,932,386 G977W probably damaging Het
Other mutations in Itm2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00864:Itm2b APN 14 73363135 missense probably damaging 1.00
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