Incidental Mutation 'IGL03202:Itm2b'
ID |
413022 |
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 # |
IGL03202
|
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
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 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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700113H08Rik |
T |
C |
10: 86,909,911 (GRCm39) |
M1T |
probably null |
Het |
Ace |
T |
A |
11: 105,867,788 (GRCm39) |
I168N |
probably damaging |
Het |
Actr10 |
T |
G |
12: 70,987,605 (GRCm39) |
C37W |
probably damaging |
Het |
Atp10b |
T |
C |
11: 43,125,268 (GRCm39) |
|
probably null |
Het |
Bend5 |
A |
G |
4: 111,290,441 (GRCm39) |
N146D |
possibly damaging |
Het |
Cacna1b |
A |
G |
2: 24,541,124 (GRCm39) |
F1347L |
probably damaging |
Het |
Crybg3 |
T |
A |
16: 59,315,072 (GRCm39) |
I2910F |
probably damaging |
Het |
Cspg4 |
T |
C |
9: 56,805,023 (GRCm39) |
S1945P |
possibly damaging |
Het |
Cxcr4 |
T |
G |
1: 128,516,641 (GRCm39) |
K340T |
probably damaging |
Het |
Dnah6 |
T |
A |
6: 73,121,683 (GRCm39) |
Y1433F |
probably damaging |
Het |
Eif2ak4 |
T |
C |
2: 118,231,101 (GRCm39) |
V77A |
probably damaging |
Het |
Fscn3 |
A |
T |
6: 28,434,451 (GRCm39) |
H342L |
probably benign |
Het |
Gm9843 |
T |
C |
16: 76,200,234 (GRCm39) |
|
noncoding transcript |
Het |
Hdac9 |
T |
C |
12: 34,423,950 (GRCm39) |
E520G |
probably damaging |
Het |
Itpa |
T |
A |
2: 130,509,859 (GRCm39) |
|
probably benign |
Het |
Lce1l |
A |
T |
3: 92,757,631 (GRCm39) |
C76S |
unknown |
Het |
Lin54 |
A |
G |
5: 100,623,673 (GRCm39) |
S55P |
possibly damaging |
Het |
Lrrc37 |
T |
A |
11: 103,506,199 (GRCm39) |
E1923V |
probably benign |
Het |
Mtfmt |
C |
A |
9: 65,356,008 (GRCm39) |
P303Q |
probably damaging |
Het |
Nae1 |
A |
T |
8: 105,244,811 (GRCm39) |
|
probably benign |
Het |
Ncapd3 |
T |
A |
9: 26,983,011 (GRCm39) |
|
probably benign |
Het |
Or13a19 |
A |
G |
7: 139,903,019 (GRCm39) |
M136V |
possibly damaging |
Het |
Or1e22 |
G |
A |
11: 73,377,351 (GRCm39) |
Q100* |
probably null |
Het |
Pcnx2 |
A |
C |
8: 126,498,783 (GRCm39) |
I1572S |
probably damaging |
Het |
Piezo2 |
A |
T |
18: 63,144,669 (GRCm39) |
Y2809N |
probably damaging |
Het |
Pygl |
G |
T |
12: 70,246,420 (GRCm39) |
Q376K |
probably benign |
Het |
Resf1 |
G |
A |
6: 149,227,937 (GRCm39) |
V328I |
probably benign |
Het |
Rrp12 |
T |
C |
19: 41,857,205 (GRCm39) |
|
probably null |
Het |
Sephs1 |
A |
T |
2: 4,894,074 (GRCm39) |
I92F |
possibly damaging |
Het |
Taar4 |
T |
C |
10: 23,836,692 (GRCm39) |
F101L |
probably damaging |
Het |
Tenm2 |
A |
G |
11: 35,915,375 (GRCm39) |
I2053T |
probably damaging |
Het |
Tgfbr3 |
T |
G |
5: 107,257,630 (GRCm39) |
|
probably benign |
Het |
Vmn2r108 |
A |
T |
17: 20,691,319 (GRCm39) |
Y401* |
probably null |
Het |
Vmn2r87 |
A |
G |
10: 130,333,091 (GRCm39) |
M53T |
probably benign |
Het |
Zfp941 |
A |
G |
7: 140,392,966 (GRCm39) |
V131A |
probably benign |
Het |
|
Other mutations in Itm2b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |