Incidental Mutation 'R2077:Itm2b'
ID 229238
Institutional Source Beutler Lab
Gene Symbol Itm2b
Ensembl Gene ENSMUSG00000022108
Gene Name integral membrane protein 2B
Synonyms Bri2, D14Sel6, Bricd2b
MMRRC Submission 040082-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.342) question?
Stock # R2077 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 73599666-73622729 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 73600560 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 247 (N247D)
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: N247D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022704
Gene: ENSMUSG00000022108
AA Change: N247D

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
Meta Mutation Damage Score 0.1004 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 98% (48/49)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 T A 4: 144,183,604 (GRCm39) probably benign Het
Abhd16b A C 2: 181,135,209 (GRCm39) D37A probably benign Het
Acp7 T C 7: 28,328,907 (GRCm39) E91G probably damaging Het
Alms1 T A 6: 85,599,291 (GRCm39) N1841K possibly damaging Het
Arhgap25 T A 6: 87,436,990 (GRCm39) D620V probably damaging Het
Caps2 C T 10: 112,035,632 (GRCm39) T371I possibly damaging Het
Ccdc175 A G 12: 72,186,794 (GRCm39) I350T possibly damaging Het
Cdc25c G C 18: 34,871,292 (GRCm39) L275V probably damaging Het
Cdc42bpb A G 12: 111,265,630 (GRCm39) L1434P probably damaging Het
Cdkl3 A T 11: 51,917,666 (GRCm39) E321V probably damaging Het
Clec2d G T 6: 129,160,153 (GRCm39) V56L possibly damaging Het
Cops3 A T 11: 59,715,136 (GRCm39) S301T possibly damaging Het
Crygd T C 1: 65,102,405 (GRCm39) D19G probably damaging Het
Dnah2 T C 11: 69,387,432 (GRCm39) I931M possibly damaging Het
Dst A T 1: 34,250,251 (GRCm39) R4068S probably damaging Het
Fas C T 19: 34,297,953 (GRCm39) probably benign Het
G6pd2 T A 5: 61,967,594 (GRCm39) D456E probably damaging Het
Galnt18 G A 7: 111,153,809 (GRCm39) R272W probably damaging Het
Grb2 C A 11: 115,536,651 (GRCm39) G200W probably damaging Het
Herc4 A G 10: 63,099,832 (GRCm39) N85S probably benign Het
Ighv7-2 T C 12: 113,875,727 (GRCm39) D92G probably damaging Het
Itih3 A G 14: 30,631,792 (GRCm39) V765A possibly damaging Het
Kcnd3 T C 3: 105,574,315 (GRCm39) V500A probably benign Het
Lrp2 C T 2: 69,338,187 (GRCm39) G1198R probably damaging Het
Ltb4r2 A G 14: 55,999,444 (GRCm39) T22A probably damaging Het
Mdga2 A G 12: 66,702,136 (GRCm39) V355A probably damaging Het
Megf8 T A 7: 25,053,163 (GRCm39) V1778E probably benign Het
Mroh2b G A 15: 4,974,448 (GRCm39) E1143K probably damaging Het
Nbn A T 4: 15,979,389 (GRCm39) Y458F probably damaging Het
Nlrc3 A G 16: 3,781,856 (GRCm39) C534R probably benign Het
Nup155 A G 15: 8,172,510 (GRCm39) E832G probably damaging Het
Or5w11 A G 2: 87,459,173 (GRCm39) Y122C probably damaging Het
Plcl2 A G 17: 50,913,857 (GRCm39) T289A probably benign Het
Ptprs C T 17: 56,741,990 (GRCm39) R7Q probably null Het
Rab3ip A T 10: 116,754,865 (GRCm39) D198E possibly damaging Het
Scaf4 A T 16: 90,049,323 (GRCm39) F255I unknown Het
Senp6 T C 9: 80,033,437 (GRCm39) S475P probably benign Het
Shpk T C 11: 73,094,785 (GRCm39) L67P probably damaging Het
Sik3 T A 9: 46,130,801 (GRCm39) Y1246N probably damaging Het
Slc44a2 A G 9: 21,265,020 (GRCm39) Y686C probably damaging Het
Slc6a19 A G 13: 73,848,685 (GRCm39) V23A probably benign Het
Slit3 A T 11: 35,435,575 (GRCm39) I169F possibly damaging Het
Stxbp5l A G 16: 37,056,637 (GRCm39) V379A possibly damaging Het
Tex2 T C 11: 106,397,690 (GRCm39) probably null Het
Tnpo3 A G 6: 29,586,143 (GRCm39) V149A possibly damaging Het
Vmn1r158 T A 7: 22,489,815 (GRCm39) R131S probably benign Het
Vmn2r24 T A 6: 123,792,358 (GRCm39) C562S probably damaging Het
Wipi1 T C 11: 109,468,490 (GRCm39) N368S probably benign Het
Zbtb41 T C 1: 139,351,831 (GRCm39) S315P 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
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
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
Predicted Primers PCR Primer
(F):5'- ACAGTGAAGCCCTGTTTGC -3'
(R):5'- GTAAGCCGTTTGTAAAGCACTG -3'

Sequencing Primer
(F):5'- GCCCTGTTTGCTACTTACATGAAAAG -3'
(R):5'- GCCGTTTGTAAAGCACTGTTACCAG -3'
Posted On 2014-09-17