Incidental Mutation 'IGL02343:Apba2'
ID |
289185 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Apba2
|
Ensembl Gene |
ENSMUSG00000030519 |
Gene Name |
amyloid beta precursor protein binding family A member 2 |
Synonyms |
X11L, Mint 2, X11-like |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.163)
|
Stock # |
IGL02343
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
64151454-64403626 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 64344894 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 28
(E28G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032732
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032732]
[ENSMUST00000205604]
[ENSMUST00000205613]
[ENSMUST00000206246]
|
AlphaFold |
P98084 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032732
AA Change: E28G
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000032732 Gene: ENSMUSG00000030519 AA Change: E28G
Domain | Start | End | E-Value | Type |
low complexity region
|
82 |
96 |
N/A |
INTRINSIC |
low complexity region
|
216 |
230 |
N/A |
INTRINSIC |
PTB
|
368 |
534 |
6.31e-29 |
SMART |
PDZ
|
578 |
656 |
6.32e-12 |
SMART |
PDZ
|
670 |
736 |
1.79e-11 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000205604
AA Change: E28G
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000205613
AA Change: E28G
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206246
AA Change: E28G
PolyPhen 2
Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for disruptions in this gene show a selective deficit in motivated approach behavior, but not in motivated avoidance behavior. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acbd5 |
T |
A |
2: 22,977,507 (GRCm39) |
N168K |
possibly damaging |
Het |
Aig1 |
T |
C |
10: 13,744,418 (GRCm39) |
M29V |
probably damaging |
Het |
Albfm1 |
C |
A |
5: 90,727,473 (GRCm39) |
H364N |
probably damaging |
Het |
Bglap3 |
T |
C |
3: 88,276,423 (GRCm39) |
N45S |
possibly damaging |
Het |
Cables2 |
A |
G |
2: 179,902,072 (GRCm39) |
|
probably null |
Het |
Cd109 |
A |
G |
9: 78,596,237 (GRCm39) |
|
probably benign |
Het |
Cdk1 |
T |
C |
10: 69,176,331 (GRCm39) |
N259D |
probably benign |
Het |
Ces1h |
A |
G |
8: 94,078,654 (GRCm39) |
*563R |
probably null |
Het |
Cfap46 |
C |
T |
7: 139,262,425 (GRCm39) |
A115T |
probably damaging |
Het |
Cry2 |
A |
T |
2: 92,257,266 (GRCm39) |
V101E |
possibly damaging |
Het |
Cyp4a31 |
A |
G |
4: 115,421,026 (GRCm39) |
Y38C |
probably damaging |
Het |
Dip2a |
T |
C |
10: 76,155,312 (GRCm39) |
Y130C |
probably benign |
Het |
Eps8l1 |
A |
G |
7: 4,475,123 (GRCm39) |
T366A |
probably benign |
Het |
Esr2 |
C |
T |
12: 76,192,119 (GRCm39) |
R303H |
probably benign |
Het |
Fbxo41 |
T |
G |
6: 85,455,153 (GRCm39) |
L617F |
possibly damaging |
Het |
Fbxw15 |
A |
T |
9: 109,381,723 (GRCm39) |
|
probably benign |
Het |
Lrriq1 |
T |
A |
10: 103,070,024 (GRCm39) |
|
probably benign |
Het |
Me1 |
A |
T |
9: 86,536,694 (GRCm39) |
|
probably null |
Het |
Moxd1 |
G |
A |
10: 24,155,762 (GRCm39) |
V289I |
probably damaging |
Het |
Muc19 |
T |
G |
15: 91,778,428 (GRCm39) |
|
noncoding transcript |
Het |
Myo15b |
A |
G |
11: 115,764,226 (GRCm39) |
|
probably benign |
Het |
Nav1 |
A |
T |
1: 135,382,490 (GRCm39) |
L1264* |
probably null |
Het |
Nhlrc4 |
T |
C |
17: 26,162,335 (GRCm39) |
*137W |
probably null |
Het |
Nrxn3 |
A |
G |
12: 88,762,123 (GRCm39) |
T57A |
probably damaging |
Het |
Or10g3 |
T |
A |
14: 52,609,934 (GRCm39) |
D192V |
probably damaging |
Het |
Orc2 |
A |
T |
1: 58,508,825 (GRCm39) |
|
probably null |
Het |
Rpap2 |
G |
A |
5: 107,766,047 (GRCm39) |
|
probably null |
Het |
S100a9 |
T |
C |
3: 90,602,531 (GRCm39) |
H21R |
probably damaging |
Het |
Spz1 |
T |
A |
13: 92,712,054 (GRCm39) |
M141L |
probably benign |
Het |
Stk40 |
A |
G |
4: 126,030,695 (GRCm39) |
Y305C |
probably damaging |
Het |
Stra6l |
A |
G |
4: 45,869,588 (GRCm39) |
Q218R |
probably damaging |
Het |
T |
C |
A |
17: 8,658,732 (GRCm39) |
|
probably benign |
Het |
Tep1 |
T |
C |
14: 51,066,704 (GRCm39) |
D2298G |
probably damaging |
Het |
Trim40 |
A |
T |
17: 37,200,030 (GRCm39) |
L16Q |
probably benign |
Het |
Tubb4a |
T |
C |
17: 57,388,538 (GRCm39) |
I163V |
probably benign |
Het |
Vwc2 |
T |
A |
11: 11,066,532 (GRCm39) |
C207S |
probably damaging |
Het |
Zfp407 |
A |
G |
18: 84,227,849 (GRCm39) |
I1920T |
possibly damaging |
Het |
Zfp429 |
T |
C |
13: 67,538,844 (GRCm39) |
E200G |
probably damaging |
Het |
Zfp451 |
C |
T |
1: 33,815,574 (GRCm39) |
C792Y |
probably damaging |
Het |
|
Other mutations in Apba2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00340:Apba2
|
APN |
7 |
64,386,689 (GRCm39) |
missense |
possibly damaging |
0.79 |
IGL01716:Apba2
|
APN |
7 |
64,395,574 (GRCm39) |
splice site |
probably benign |
|
IGL02218:Apba2
|
APN |
7 |
64,345,425 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03265:Apba2
|
APN |
7 |
64,345,071 (GRCm39) |
missense |
probably damaging |
1.00 |
guadalupe
|
UTSW |
7 |
64,399,912 (GRCm39) |
missense |
probably damaging |
1.00 |
LCD18:Apba2
|
UTSW |
7 |
64,271,908 (GRCm39) |
intron |
probably benign |
|
R0395:Apba2
|
UTSW |
7 |
64,393,156 (GRCm39) |
missense |
probably benign |
0.00 |
R0554:Apba2
|
UTSW |
7 |
64,395,528 (GRCm39) |
missense |
probably damaging |
1.00 |
R0624:Apba2
|
UTSW |
7 |
64,364,263 (GRCm39) |
splice site |
probably null |
|
R0733:Apba2
|
UTSW |
7 |
64,399,912 (GRCm39) |
missense |
probably damaging |
1.00 |
R1107:Apba2
|
UTSW |
7 |
64,395,467 (GRCm39) |
missense |
possibly damaging |
0.51 |
R1464:Apba2
|
UTSW |
7 |
64,345,297 (GRCm39) |
missense |
probably benign |
|
R1464:Apba2
|
UTSW |
7 |
64,345,297 (GRCm39) |
missense |
probably benign |
|
R1486:Apba2
|
UTSW |
7 |
64,386,696 (GRCm39) |
missense |
probably damaging |
1.00 |
R1895:Apba2
|
UTSW |
7 |
64,394,378 (GRCm39) |
critical splice donor site |
probably null |
|
R1942:Apba2
|
UTSW |
7 |
64,345,218 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1946:Apba2
|
UTSW |
7 |
64,394,378 (GRCm39) |
critical splice donor site |
probably null |
|
R2002:Apba2
|
UTSW |
7 |
64,383,290 (GRCm39) |
missense |
probably damaging |
0.97 |
R2089:Apba2
|
UTSW |
7 |
64,345,341 (GRCm39) |
missense |
probably benign |
0.02 |
R2091:Apba2
|
UTSW |
7 |
64,345,341 (GRCm39) |
missense |
probably benign |
0.02 |
R2091:Apba2
|
UTSW |
7 |
64,345,341 (GRCm39) |
missense |
probably benign |
0.02 |
R2571:Apba2
|
UTSW |
7 |
64,395,498 (GRCm39) |
missense |
probably damaging |
0.98 |
R3035:Apba2
|
UTSW |
7 |
64,389,540 (GRCm39) |
missense |
probably benign |
0.03 |
R4620:Apba2
|
UTSW |
7 |
64,364,215 (GRCm39) |
missense |
probably damaging |
1.00 |
R5468:Apba2
|
UTSW |
7 |
64,395,510 (GRCm39) |
missense |
probably damaging |
1.00 |
R5478:Apba2
|
UTSW |
7 |
64,344,934 (GRCm39) |
nonsense |
probably null |
|
R5644:Apba2
|
UTSW |
7 |
64,365,259 (GRCm39) |
missense |
probably benign |
|
R5645:Apba2
|
UTSW |
7 |
64,345,554 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5941:Apba2
|
UTSW |
7 |
64,395,464 (GRCm39) |
missense |
probably benign |
0.03 |
R5969:Apba2
|
UTSW |
7 |
64,394,195 (GRCm39) |
nonsense |
probably null |
|
R6190:Apba2
|
UTSW |
7 |
64,389,628 (GRCm39) |
missense |
probably damaging |
0.98 |
R6806:Apba2
|
UTSW |
7 |
64,345,207 (GRCm39) |
missense |
probably damaging |
1.00 |
R7098:Apba2
|
UTSW |
7 |
64,386,696 (GRCm39) |
missense |
probably damaging |
1.00 |
R7143:Apba2
|
UTSW |
7 |
64,394,165 (GRCm39) |
missense |
probably damaging |
1.00 |
R7183:Apba2
|
UTSW |
7 |
64,383,293 (GRCm39) |
missense |
probably benign |
0.11 |
R7260:Apba2
|
UTSW |
7 |
64,389,493 (GRCm39) |
missense |
probably damaging |
1.00 |
R7479:Apba2
|
UTSW |
7 |
64,389,607 (GRCm39) |
missense |
possibly damaging |
0.63 |
R7677:Apba2
|
UTSW |
7 |
64,344,845 (GRCm39) |
missense |
probably benign |
0.02 |
R7959:Apba2
|
UTSW |
7 |
64,345,571 (GRCm39) |
missense |
probably benign |
|
R8325:Apba2
|
UTSW |
7 |
64,345,730 (GRCm39) |
missense |
probably benign |
0.02 |
R8376:Apba2
|
UTSW |
7 |
64,345,341 (GRCm39) |
missense |
probably benign |
0.02 |
R8411:Apba2
|
UTSW |
7 |
64,386,674 (GRCm39) |
missense |
probably damaging |
0.99 |
R8412:Apba2
|
UTSW |
7 |
64,395,546 (GRCm39) |
missense |
probably damaging |
1.00 |
R8857:Apba2
|
UTSW |
7 |
64,399,939 (GRCm39) |
missense |
possibly damaging |
0.76 |
R9040:Apba2
|
UTSW |
7 |
64,393,072 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9265:Apba2
|
UTSW |
7 |
64,393,020 (GRCm39) |
missense |
probably damaging |
0.99 |
R9356:Apba2
|
UTSW |
7 |
64,345,421 (GRCm39) |
missense |
probably damaging |
1.00 |
R9569:Apba2
|
UTSW |
7 |
64,393,138 (GRCm39) |
missense |
possibly damaging |
0.64 |
R9667:Apba2
|
UTSW |
7 |
64,345,062 (GRCm39) |
missense |
possibly damaging |
0.67 |
Z1177:Apba2
|
UTSW |
7 |
64,399,983 (GRCm39) |
missense |
probably benign |
0.41 |
|
Posted On |
2015-04-16 |