Incidental Mutation 'R9077:Itm2b'
ID 689867
Institutional Source Beutler Lab
Gene Symbol Itm2b
Ensembl Gene ENSMUSG00000022108
Gene Name integral membrane protein 2B
Synonyms Bri2, D14Sel6, Bricd2b
MMRRC Submission 068898-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.278) question?
Stock # R9077 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 73599666-73622729 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 73605865 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 40 (D40E)
Ref Sequence ENSEMBL: ENSMUSP00000022704 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022704] [ENSMUST00000227454]
AlphaFold O89051
Predicted Effect probably benign
Transcript: ENSMUST00000022704
AA Change: D40E

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000022704
Gene: ENSMUSG00000022108
AA Change: D40E

DomainStartEndE-ValueType
transmembrane domain 52 74 N/A INTRINSIC
BRICHOS 137 231 3.32e-34 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000227454
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.5%
Validation Efficiency 100% (48/48)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam8 A G 7: 139,567,552 (GRCm39) V397A probably benign Het
Alkbh3 A G 2: 93,811,925 (GRCm39) V235A probably damaging Het
Arfgef2 A G 2: 166,706,721 (GRCm39) I982V probably damaging Het
Arfgef3 T C 10: 18,500,899 (GRCm39) D1117G possibly damaging Het
Arhgap31 G T 16: 38,422,730 (GRCm39) A1112D probably damaging Het
Arhgef4 T C 1: 34,760,824 (GRCm39) C27R unknown Het
Bzw1 T A 1: 58,438,190 (GRCm39) M90K probably benign Het
Cdk17 T C 10: 93,068,277 (GRCm39) Y345H probably damaging Het
Cip2a A G 16: 48,827,511 (GRCm39) I459V probably benign Het
Cog8 C T 8: 107,779,208 (GRCm39) M356I probably damaging Het
Ctsw T C 19: 5,516,431 (GRCm39) D173G probably benign Het
Dnah6 A T 6: 73,121,029 (GRCm39) C1488* probably null Het
Dnah7a T C 1: 53,741,218 (GRCm39) K13E unknown Het
Eif3f A G 7: 108,539,425 (GRCm39) M232V probably benign Het
Gk5 C A 9: 96,001,634 (GRCm39) T44K probably benign Het
Glrb A G 3: 80,763,217 (GRCm39) F260S probably damaging Het
Glyctk C A 9: 106,032,522 (GRCm39) R497L probably benign Het
Gm10153 G T 7: 141,743,383 (GRCm39) C248* probably null Het
Hand2 A G 8: 57,776,836 (GRCm39) K199E probably damaging Het
Heatr1 T A 13: 12,428,247 (GRCm39) C795S probably benign Het
Il31ra T C 13: 112,670,361 (GRCm39) I342M probably benign Het
Ksr1 T C 11: 78,927,552 (GRCm39) T371A probably damaging Het
Lctl C A 9: 64,039,241 (GRCm39) probably benign Het
Lpin1 G A 12: 16,591,747 (GRCm39) P827S Het
Lyst T C 13: 13,857,693 (GRCm39) I2494T probably benign Het
Mia2 A G 12: 59,226,760 (GRCm39) N510S possibly damaging Het
Mycbp2 T C 14: 103,469,974 (GRCm39) D1308G probably damaging Het
Naip2 C T 13: 100,291,459 (GRCm39) D1160N probably benign Het
Naip2 T C 13: 100,291,468 (GRCm39) S1157G probably benign Het
Omt2b T C 9: 78,235,548 (GRCm39) probably null Het
Or2j6 G A 7: 139,980,809 (GRCm39) P50L probably benign Het
Or56b1 C T 7: 104,285,291 (GRCm39) R137C probably benign Het
Or56b1 A G 7: 104,285,618 (GRCm39) T246A probably damaging Het
Pan2 A G 10: 128,148,856 (GRCm39) Y490C probably damaging Het
Pard6g A G 18: 80,160,772 (GRCm39) E295G probably damaging Het
Pcdhb8 T C 18: 37,489,414 (GRCm39) V23A probably damaging Het
Phactr3 A T 2: 177,974,758 (GRCm39) probably benign Het
Pip G A 6: 41,828,388 (GRCm39) S74N probably damaging Het
Plau G A 14: 20,889,949 (GRCm39) E265K probably benign Het
Pmm1 C T 15: 81,839,896 (GRCm39) R143H probably damaging Het
Rcor3 C T 1: 191,807,865 (GRCm39) D230N probably damaging Het
Siglec15 A G 18: 78,091,983 (GRCm39) Y73H possibly damaging Het
Spag16 T A 1: 70,532,930 (GRCm39) probably benign Het
Spta1 G T 1: 174,045,170 (GRCm39) D1506Y probably damaging Het
Tacr3 A T 3: 134,635,711 (GRCm39) Y305F probably benign Het
Tcstv7a T C 13: 120,289,885 (GRCm39) M104V probably benign Het
Vmn1r83 G A 7: 12,055,571 (GRCm39) T162M probably damaging Het
Vmn2r116 G T 17: 23,604,956 (GRCm39) D90Y probably benign Het
Wdr76 A G 2: 121,364,608 (GRCm39) N304S probably benign Het
Wee1 G A 7: 109,725,963 (GRCm39) V358I probably damaging Het
Zan G A 5: 137,401,468 (GRCm39) P4084S unknown 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
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
R9300:Itm2b UTSW 14 73,603,896 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CTTCCCCTAGAAGTAAGTACATAGATG -3'
(R):5'- TCAGAGCTCCAGACACTGTTAGTC -3'

Sequencing Primer
(F):5'- CCTACTTACCTGAAGAGCA -3'
(R):5'- AGAAGGCTGCCTAGAGGTCTC -3'
Posted On 2021-11-19