Incidental Mutation 'IGL02218:Apba2'
| ID |
285001 |
| 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: 0.169)
|
| Stock # |
IGL02218
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
64151454-64403626 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 64345425 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 205
(T205I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032732
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032732]
[ENSMUST00000205604]
[ENSMUST00000205613]
[ENSMUST00000206246]
|
| AlphaFold |
P98084 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032732
AA Change: T205I
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000032732
Gene: ENSMUSG00000030519
AA Change: T205I
| 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 |
probably benign
Transcript: ENSMUST00000205604
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205613
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206246
AA Change: T205I
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730409E04Rik |
A |
G |
4: 126,505,838 (GRCm39) |
D122G |
probably benign |
Het |
| Abcc8 |
T |
C |
7: 45,769,860 (GRCm39) |
D885G |
probably benign |
Het |
| Abcf1 |
T |
C |
17: 36,269,230 (GRCm39) |
K676R |
probably benign |
Het |
| Acsf2 |
A |
G |
11: 94,492,589 (GRCm39) |
V3A |
probably benign |
Het |
| Bricd5 |
C |
A |
17: 24,694,296 (GRCm39) |
Y171* |
probably null |
Het |
| Camk2d |
T |
G |
3: 126,633,802 (GRCm39) |
N441K |
probably benign |
Het |
| Carm1 |
T |
C |
9: 21,480,808 (GRCm39) |
V94A |
probably damaging |
Het |
| Chd3 |
C |
T |
11: 69,242,920 (GRCm39) |
|
probably benign |
Het |
| Cipc |
A |
G |
12: 87,008,702 (GRCm39) |
N166S |
probably damaging |
Het |
| Cln5 |
A |
C |
14: 103,313,276 (GRCm39) |
|
probably null |
Het |
| Cnbd1 |
C |
A |
4: 18,887,739 (GRCm39) |
Q258H |
probably benign |
Het |
| Cyp8b1 |
A |
G |
9: 121,744,183 (GRCm39) |
L383P |
probably damaging |
Het |
| Dnai4 |
A |
G |
4: 102,953,971 (GRCm39) |
V76A |
probably damaging |
Het |
| Dok3 |
A |
G |
13: 55,671,599 (GRCm39) |
L324P |
probably damaging |
Het |
| Eftud2 |
A |
T |
11: 102,761,039 (GRCm39) |
F102Y |
possibly damaging |
Het |
| Ewsr1 |
G |
A |
11: 5,020,668 (GRCm39) |
P551S |
unknown |
Het |
| Fam193a |
G |
T |
5: 34,600,932 (GRCm39) |
V346L |
possibly damaging |
Het |
| Golim4 |
A |
G |
3: 75,785,361 (GRCm39) |
S677P |
probably damaging |
Het |
| Gpr149 |
A |
G |
3: 62,437,952 (GRCm39) |
|
probably benign |
Het |
| Ins1 |
A |
T |
19: 52,253,121 (GRCm39) |
K20N |
probably benign |
Het |
| Itpr2 |
A |
T |
6: 146,141,760 (GRCm39) |
|
probably benign |
Het |
| Jup |
G |
A |
11: 100,272,665 (GRCm39) |
T249I |
probably damaging |
Het |
| Kctd20 |
T |
A |
17: 29,176,877 (GRCm39) |
N2K |
probably benign |
Het |
| Kif15 |
A |
G |
9: 122,824,892 (GRCm39) |
|
probably benign |
Het |
| Klrb1-ps1 |
T |
C |
6: 129,106,269 (GRCm39) |
|
noncoding transcript |
Het |
| Krtap29-1 |
T |
C |
11: 99,869,884 (GRCm39) |
|
probably null |
Het |
| Lamb3 |
A |
T |
1: 193,010,941 (GRCm39) |
|
probably null |
Het |
| Large1 |
A |
G |
8: 73,638,750 (GRCm39) |
W276R |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,185,684 (GRCm39) |
N603D |
probably benign |
Het |
| Lrrc37a |
A |
G |
11: 103,391,207 (GRCm39) |
V1406A |
probably benign |
Het |
| Lrrc74a |
A |
G |
12: 86,795,822 (GRCm39) |
D265G |
probably benign |
Het |
| Lrrfip2 |
G |
A |
9: 111,048,793 (GRCm39) |
C250Y |
probably benign |
Het |
| Mbtd1 |
A |
G |
11: 93,822,629 (GRCm39) |
|
probably benign |
Het |
| Msr1 |
A |
G |
8: 40,042,357 (GRCm39) |
V406A |
possibly damaging |
Het |
| Mtfr1l |
C |
T |
4: 134,256,491 (GRCm39) |
D225N |
probably benign |
Het |
| Nckap1l |
T |
A |
15: 103,391,954 (GRCm39) |
S796R |
possibly damaging |
Het |
| Oaf |
T |
A |
9: 43,136,219 (GRCm39) |
H119L |
probably benign |
Het |
| Or4d1 |
A |
T |
11: 87,804,889 (GRCm39) |
M281K |
probably damaging |
Het |
| Pik3c2g |
A |
T |
6: 139,806,081 (GRCm39) |
H516L |
probably damaging |
Het |
| Pkd1l3 |
A |
T |
8: 110,387,434 (GRCm39) |
I1793F |
possibly damaging |
Het |
| Ptpra |
A |
G |
2: 130,394,255 (GRCm39) |
|
probably benign |
Het |
| Slc25a27 |
C |
T |
17: 43,974,964 (GRCm39) |
|
probably null |
Het |
| Slc2a2 |
A |
T |
3: 28,752,174 (GRCm39) |
E3D |
possibly damaging |
Het |
| Slc35f5 |
T |
C |
1: 125,512,292 (GRCm39) |
F14S |
probably damaging |
Het |
| Sspn |
T |
C |
6: 145,907,112 (GRCm39) |
V105A |
probably damaging |
Het |
| Syvn1 |
T |
C |
19: 6,100,229 (GRCm39) |
I263T |
probably damaging |
Het |
| Tek |
A |
C |
4: 94,743,574 (GRCm39) |
D863A |
probably damaging |
Het |
| Tent5b |
C |
T |
4: 133,213,462 (GRCm39) |
A111V |
probably damaging |
Het |
| Tm9sf4 |
G |
T |
2: 153,046,536 (GRCm39) |
V592F |
probably benign |
Het |
| Tmem259 |
A |
G |
10: 79,814,151 (GRCm39) |
M354T |
possibly damaging |
Het |
| Ttf2 |
T |
C |
3: 100,871,409 (GRCm39) |
E84G |
possibly damaging |
Het |
| Ttyh3 |
T |
C |
5: 140,612,246 (GRCm39) |
E487G |
probably damaging |
Het |
| Ubtf |
C |
A |
11: 102,197,526 (GRCm39) |
E709* |
probably null |
Het |
| Vmn1r119 |
T |
C |
7: 20,745,561 (GRCm39) |
R274G |
probably benign |
Het |
| Zfp804a |
A |
G |
2: 82,089,546 (GRCm39) |
Q1125R |
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 |
|
|
IGL02343:Apba2
|
APN |
7 |
64,344,894 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
Incidental Mutation