Incidental Mutation 'IGL03190:Itm2b'
ID 412619
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 # IGL03190
Quality Score
Status
Chromosome 14
Chromosomal Location 73599666-73622729 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 73603229 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 120 (P120L)
Ref Sequence ENSEMBL: ENSMUSP00000153948 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022704] [ENSMUST00000227454]
AlphaFold O89051
Predicted Effect probably damaging
Transcript: ENSMUST00000022704
AA Change: P176L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022704
Gene: ENSMUSG00000022108
AA Change: P176L

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 damaging
Transcript: ENSMUST00000227454
AA Change: P120L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 A T 14: 56,016,510 (GRCm39) C314S probably damaging Het
Agr2 T A 12: 36,048,634 (GRCm39) I128N probably damaging Het
Akr1c6 T C 13: 4,496,412 (GRCm39) I91T possibly damaging Het
Ankrd45 A G 1: 160,990,909 (GRCm39) I221V probably benign Het
Armc3 A T 2: 19,293,761 (GRCm39) L517F probably damaging Het
Atp13a3 A T 16: 30,141,766 (GRCm39) M1129K probably benign Het
Atp6v0a4 T A 6: 38,031,491 (GRCm39) Q670L probably benign Het
Bank1 T C 3: 135,806,185 (GRCm39) Y483C probably damaging Het
Bcan A T 3: 87,900,357 (GRCm39) probably benign Het
Bcl11a G A 11: 24,108,333 (GRCm39) E104K probably benign Het
Clasp2 C T 9: 113,673,208 (GRCm39) Q368* probably null Het
Clcn1 T A 6: 42,267,037 (GRCm39) Y71N probably benign Het
Cul2 C T 18: 3,429,634 (GRCm39) T498I possibly damaging Het
Fat4 A G 3: 39,035,390 (GRCm39) D3014G probably damaging Het
Flnc T C 6: 29,445,636 (GRCm39) probably benign Het
Il36g C A 2: 24,077,272 (GRCm39) S28* probably null Het
Itgb3bp A G 4: 99,677,923 (GRCm39) probably benign Het
Klk1b26 T C 7: 43,662,151 (GRCm39) F3S possibly damaging Het
Lin52 T C 12: 84,504,732 (GRCm39) V39A probably damaging Het
Magt1 A C X: 105,032,622 (GRCm39) N242K probably benign Het
Nos3 A G 5: 24,588,627 (GRCm39) M1118V probably damaging Het
Or1j13 A T 2: 36,369,734 (GRCm39) M136K probably damaging Het
Or6k2 T C 1: 173,987,110 (GRCm39) V257A probably damaging Het
Paqr5 A C 9: 61,880,084 (GRCm39) L56R probably damaging Het
Pcdhb16 T C 18: 37,612,396 (GRCm39) F452S probably damaging Het
Prdm5 T A 6: 65,833,116 (GRCm39) probably benign Het
Rps6ka5 A G 12: 100,524,907 (GRCm39) probably benign Het
Slc22a5 A G 11: 53,765,840 (GRCm39) F249L probably benign Het
Spata31f1a C A 4: 42,848,362 (GRCm39) G1265C probably benign Het
Ttll2 T C 17: 7,618,779 (GRCm39) K383E probably benign Het
Ube2o G A 11: 116,435,954 (GRCm39) P353L probably damaging Het
Vmn1r63 T C 7: 5,806,110 (GRCm39) D174G probably benign Het
Vmn2r82 A G 10: 79,192,643 (GRCm39) probably null Het
Xpnpep2 T A X: 47,207,205 (GRCm39) probably benign Het
Zfp352 T A 4: 90,111,994 (GRCm39) S45T possibly damaging Het
Zfp811 A G 17: 33,017,855 (GRCm39) probably benign Het
Zfyve19 G A 2: 119,046,717 (GRCm39) A304T 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
IGL02006:Itm2b APN 14 73,600,488 (GRCm39) unclassified probably benign
IGL02383:Itm2b APN 14 73,600,536 (GRCm39) nonsense probably null
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 2016-08-02