Incidental Mutation 'IGL00857:Itm2b'
| ID |
11514 |
| 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)
|
| Stock # |
IGL00857
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
73599666-73622729 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 73602056 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| AlphaFold |
O89051 |
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acr |
A |
G |
15: 89,454,205 (GRCm39) |
T181A |
probably benign |
Het |
| Anks3 |
T |
A |
16: 4,771,793 (GRCm39) |
H77L |
possibly damaging |
Het |
| Cacna1d |
A |
T |
14: 30,072,638 (GRCm39) |
N112K |
possibly damaging |
Het |
| Cd164 |
A |
G |
10: 41,404,691 (GRCm39) |
T150A |
probably benign |
Het |
| Cfap57 |
C |
T |
4: 118,470,120 (GRCm39) |
|
probably null |
Het |
| Cntnap2 |
C |
A |
6: 47,026,358 (GRCm39) |
N61K |
probably benign |
Het |
| Cstdc1 |
A |
G |
2: 148,624,170 (GRCm39) |
D48G |
possibly damaging |
Het |
| Cyp4f39 |
A |
G |
17: 32,708,631 (GRCm39) |
I393V |
probably benign |
Het |
| Dcaf11 |
A |
T |
14: 55,798,742 (GRCm39) |
|
probably benign |
Het |
| Defb7 |
G |
A |
8: 19,547,594 (GRCm39) |
R33Q |
possibly damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,283,604 (GRCm39) |
Y2743C |
probably benign |
Het |
| Enpp2 |
A |
G |
15: 54,739,046 (GRCm39) |
|
probably null |
Het |
| Fam135b |
T |
A |
15: 71,335,465 (GRCm39) |
E576D |
probably benign |
Het |
| Gfpt1 |
T |
A |
6: 87,033,145 (GRCm39) |
N123K |
probably damaging |
Het |
| Hnmt |
T |
C |
2: 23,893,795 (GRCm39) |
D233G |
probably benign |
Het |
| Hsd3b2 |
T |
A |
3: 98,618,859 (GRCm39) |
E362V |
possibly damaging |
Het |
| Hsdl2 |
T |
A |
4: 59,617,735 (GRCm39) |
N487K |
probably benign |
Het |
| Hspa14 |
T |
C |
2: 3,503,796 (GRCm39) |
Y83C |
probably damaging |
Het |
| Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
| Myocd |
A |
T |
11: 65,069,662 (GRCm39) |
V726D |
possibly damaging |
Het |
| Ncapg |
T |
A |
5: 45,833,927 (GRCm39) |
|
probably null |
Het |
| Nrdc |
A |
T |
4: 108,911,199 (GRCm39) |
I774F |
probably damaging |
Het |
| Pot1a |
T |
C |
6: 25,744,627 (GRCm39) |
I626V |
probably benign |
Het |
| Prkab2 |
C |
T |
3: 97,569,659 (GRCm39) |
A75V |
possibly damaging |
Het |
| Sdr9c7 |
A |
G |
10: 127,734,728 (GRCm39) |
Q72R |
probably benign |
Het |
| Slc16a7 |
A |
C |
10: 125,066,803 (GRCm39) |
Y279D |
probably benign |
Het |
| Slc8a1 |
T |
A |
17: 81,955,308 (GRCm39) |
T577S |
probably benign |
Het |
| Slitrk3 |
G |
A |
3: 72,957,174 (GRCm39) |
L533F |
probably damaging |
Het |
| Tent5a |
C |
A |
9: 85,206,806 (GRCm39) |
V331L |
possibly damaging |
Het |
| Tmeff1 |
T |
C |
4: 48,610,435 (GRCm39) |
V102A |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,583,099 (GRCm39) |
T22598I |
probably damaging |
Het |
| Ube4a |
C |
A |
9: 44,843,684 (GRCm39) |
G977W |
probably damaging |
Het |
|
| Other mutations in Itm2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2012-12-06 |
Incidental Mutation