Incidental Mutation 'R8412:Apba2'
| ID |
652739 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Apba2
|
| Ensembl Gene |
ENSMUSG00000030519 |
| Gene Name |
amyloid beta precursor protein binding family A member 2 |
| Synonyms |
X11L, Mint 2, X11-like |
| MMRRC Submission |
067816-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
R8412 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
64151454-64403626 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 64395546 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 674
(F674Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032732
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032732]
[ENSMUST00000206246]
|
| AlphaFold |
P98084 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032732
AA Change: F674Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032732
Gene: ENSMUSG00000030519
AA Change: F674Y
| 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: ENSMUST00000206246
AA Change: F662Y
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700056E22Rik |
T |
A |
1: 183,765,356 (GRCm39) |
R234S |
probably damaging |
Het |
| Ace |
T |
A |
11: 105,870,092 (GRCm39) |
F806Y |
probably benign |
Het |
| Ak8 |
A |
G |
2: 28,629,643 (GRCm39) |
T286A |
probably benign |
Het |
| Apob |
A |
G |
12: 8,058,069 (GRCm39) |
I2184V |
probably benign |
Het |
| Arhgap23 |
C |
T |
11: 97,356,854 (GRCm39) |
P884L |
probably benign |
Het |
| Atg2a |
T |
C |
19: 6,294,554 (GRCm39) |
L90P |
probably damaging |
Het |
| Bhmt2 |
T |
A |
13: 93,798,820 (GRCm39) |
I334F |
possibly damaging |
Het |
| Bmi1 |
C |
T |
2: 18,689,114 (GRCm39) |
T266I |
probably damaging |
Het |
| Cdh26 |
A |
G |
2: 178,104,517 (GRCm39) |
I301V |
probably damaging |
Het |
| Cenpx |
A |
T |
11: 120,602,558 (GRCm39) |
H68Q |
unknown |
Het |
| Cnot10 |
T |
C |
9: 114,439,738 (GRCm39) |
R524G |
probably benign |
Het |
| Cnpy1 |
A |
T |
5: 28,414,206 (GRCm39) |
Y22* |
probably null |
Het |
| Csmd3 |
C |
T |
15: 47,499,794 (GRCm39) |
R2114H |
|
Het |
| Defa29 |
T |
A |
8: 21,816,062 (GRCm39) |
T102S |
probably benign |
Het |
| Fras1 |
T |
C |
5: 96,744,711 (GRCm39) |
I582T |
probably benign |
Het |
| Gm14295 |
G |
A |
2: 176,501,422 (GRCm39) |
C304Y |
probably damaging |
Het |
| Gucy2d |
T |
C |
7: 98,093,046 (GRCm39) |
V141A |
possibly damaging |
Het |
| Ifi47 |
A |
C |
11: 48,986,425 (GRCm39) |
Q64P |
probably damaging |
Het |
| Irx3 |
G |
T |
8: 92,527,028 (GRCm39) |
S225R |
possibly damaging |
Het |
| Itpr1 |
A |
G |
6: 108,340,581 (GRCm39) |
H289R |
probably benign |
Het |
| Lamc3 |
A |
G |
2: 31,802,128 (GRCm39) |
D512G |
probably damaging |
Het |
| Mcm3 |
C |
T |
1: 20,886,980 (GRCm39) |
V142I |
probably benign |
Het |
| Med23 |
C |
A |
10: 24,784,632 (GRCm39) |
F1200L |
probably benign |
Het |
| Ndst4 |
A |
T |
3: 125,364,439 (GRCm39) |
D372V |
possibly damaging |
Het |
| Nob1 |
T |
A |
8: 108,148,230 (GRCm39) |
K71* |
probably null |
Het |
| Ntrk3 |
A |
G |
7: 78,005,897 (GRCm39) |
I488T |
probably benign |
Het |
| Pds5b |
G |
T |
5: 150,643,424 (GRCm39) |
C82F |
probably damaging |
Het |
| Pkd1l3 |
T |
A |
8: 110,360,022 (GRCm39) |
V969E |
possibly damaging |
Het |
| Ppme1 |
A |
T |
7: 99,984,298 (GRCm39) |
N307K |
probably benign |
Het |
| Pus7l |
C |
T |
15: 94,425,856 (GRCm39) |
C515Y |
probably benign |
Het |
| Rpp21 |
T |
A |
17: 36,568,591 (GRCm39) |
H22L |
possibly damaging |
Het |
| Scamp3 |
T |
C |
3: 89,088,525 (GRCm39) |
F244L |
probably damaging |
Het |
| Scgb1b7 |
A |
T |
7: 31,412,379 (GRCm39) |
K52* |
probably null |
Het |
| Slc12a3 |
T |
C |
8: 95,060,695 (GRCm39) |
I261T |
probably damaging |
Het |
| Slc19a3 |
C |
T |
1: 82,992,533 (GRCm39) |
R396H |
probably damaging |
Het |
| Slc22a14 |
T |
C |
9: 119,009,922 (GRCm39) |
I58V |
probably benign |
Het |
| Slc9a9 |
A |
C |
9: 95,111,092 (GRCm39) |
T637P |
probably damaging |
Het |
| Snrnp40 |
T |
A |
4: 130,278,316 (GRCm39) |
C274S |
possibly damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,088,457 (GRCm39) |
V905A |
probably damaging |
Het |
| Taok3 |
A |
G |
5: 117,404,102 (GRCm39) |
D759G |
possibly damaging |
Het |
| Tas1r1 |
T |
C |
4: 152,117,033 (GRCm39) |
I200M |
probably benign |
Het |
| Tnfrsf25 |
T |
C |
4: 152,204,139 (GRCm39) |
V360A |
possibly damaging |
Het |
| Trim12a |
A |
T |
7: 103,953,544 (GRCm39) |
M189K |
possibly damaging |
Het |
| Tspan32 |
T |
C |
7: 142,559,695 (GRCm39) |
F41L |
probably benign |
Het |
| Tube1 |
T |
A |
10: 39,021,657 (GRCm39) |
S301T |
possibly damaging |
Het |
| Usp8 |
T |
C |
2: 126,584,578 (GRCm39) |
S596P |
probably benign |
Het |
| Virma |
T |
A |
4: 11,521,261 (GRCm39) |
|
probably null |
Het |
| Vmn2r58 |
T |
C |
7: 41,513,722 (GRCm39) |
D307G |
probably benign |
Het |
| Zeb2 |
T |
C |
2: 44,888,964 (GRCm39) |
K327R |
probably damaging |
Het |
| Zfp54 |
C |
T |
17: 21,654,910 (GRCm39) |
T468M |
probably benign |
Het |
| Zfp780b |
A |
T |
7: 27,662,551 (GRCm39) |
I668N |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTTCTTTTGTATGCAGCCTG -3'
(R):5'- TTAAGGGATCCCAGCCACAC -3'
Sequencing Primer
(F):5'- TTGTATGCAGCCTGGTGAC -3'
(R):5'- ACACCTTGGCCCTTCCTG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation