Incidental Mutation 'R9356:Apba2'
| ID |
708416 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.163)
|
| Stock # |
R9356 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
64151454-64403626 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 64345421 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 204
(N204Y)
|
| 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: N204Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000032732
Gene: ENSMUSG00000030519
AA Change: N204Y
| 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 damaging
Transcript: ENSMUST00000206246
AA Change: N204Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
G |
A |
11: 9,206,305 (GRCm39) |
V202M |
probably benign |
Het |
| Ago3 |
A |
T |
4: 126,264,144 (GRCm39) |
I354N |
probably damaging |
Het |
| Ankrd50 |
A |
T |
3: 38,510,236 (GRCm39) |
D710E |
probably damaging |
Het |
| Arrdc4 |
A |
G |
7: 68,394,627 (GRCm39) |
V139A |
possibly damaging |
Het |
| Baz1b |
A |
G |
5: 135,239,653 (GRCm39) |
E251G |
probably benign |
Het |
| Calcr |
T |
C |
6: 3,687,408 (GRCm39) |
D530G |
probably benign |
Het |
| Chrna7 |
A |
T |
7: 62,757,437 (GRCm39) |
V154E |
probably damaging |
Het |
| Cldn15 |
T |
C |
5: 136,996,968 (GRCm39) |
V3A |
probably benign |
Het |
| Csmd1 |
A |
T |
8: 16,252,069 (GRCm39) |
L929Q |
probably damaging |
Het |
| Ctss |
A |
C |
3: 95,454,120 (GRCm39) |
H224P |
possibly damaging |
Het |
| Cyp4a12a |
C |
A |
4: 115,185,915 (GRCm39) |
H408N |
probably benign |
Het |
| Gm10549 |
C |
T |
18: 33,597,375 (GRCm39) |
P54S |
unknown |
Het |
| Gpr162 |
T |
C |
6: 124,838,297 (GRCm39) |
M118V |
possibly damaging |
Het |
| Ifnar1 |
C |
T |
16: 91,292,367 (GRCm39) |
P207L |
probably benign |
Het |
| Igfn1 |
A |
T |
1: 135,899,825 (GRCm39) |
C495* |
probably null |
Het |
| Ints9 |
T |
C |
14: 65,269,770 (GRCm39) |
S487P |
probably benign |
Het |
| Jmjd4 |
T |
A |
11: 59,345,761 (GRCm39) |
D280E |
probably benign |
Het |
| Krtap1-4 |
G |
A |
11: 99,474,169 (GRCm39) |
Q96* |
probably null |
Het |
| Ksr2 |
T |
A |
5: 117,827,706 (GRCm39) |
I495N |
probably benign |
Het |
| Lama2 |
T |
A |
10: 27,088,186 (GRCm39) |
N864Y |
probably damaging |
Het |
| Lce1f |
TCCACAGCAGCCACTGCTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTGCT |
TCCACAGCAGCCACTGCTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTGCT |
3: 92,626,272 (GRCm39) |
|
probably benign |
Het |
| Lig4 |
A |
G |
8: 10,022,538 (GRCm39) |
V414A |
possibly damaging |
Het |
| Lman2l |
A |
G |
1: 36,467,415 (GRCm39) |
F211S |
probably damaging |
Het |
| Lmtk3 |
A |
G |
7: 45,443,312 (GRCm39) |
E665G |
probably damaging |
Het |
| Mdm4 |
G |
A |
1: 132,938,837 (GRCm39) |
L86F |
probably damaging |
Het |
| Mfsd10 |
C |
A |
5: 34,794,048 (GRCm39) |
E22* |
probably null |
Het |
| Mindy1 |
C |
T |
3: 95,202,590 (GRCm39) |
L394F |
probably benign |
Het |
| Mroh4 |
T |
C |
15: 74,482,760 (GRCm39) |
M735V |
probably benign |
Het |
| Myo7a |
T |
A |
7: 97,725,873 (GRCm39) |
M1060L |
probably benign |
Het |
| Myo7b |
C |
A |
18: 32,110,096 (GRCm39) |
S1122I |
probably damaging |
Het |
| Nudt17 |
T |
A |
3: 96,613,688 (GRCm39) |
R313S |
probably damaging |
Het |
| Or52n5 |
A |
G |
7: 104,588,373 (GRCm39) |
I213M |
probably benign |
Het |
| Or5w15 |
T |
A |
2: 87,568,089 (GRCm39) |
Q193L |
probably benign |
Het |
| Or6c65 |
T |
G |
10: 129,604,035 (GRCm39) |
I223M |
possibly damaging |
Het |
| Or8h7 |
T |
A |
2: 86,720,605 (GRCm39) |
M305L |
probably benign |
Het |
| Otogl |
T |
C |
10: 107,617,890 (GRCm39) |
Y1741C |
probably damaging |
Het |
| Pja2 |
A |
G |
17: 64,618,204 (GRCm39) |
V65A |
probably damaging |
Het |
| Primpol |
A |
G |
8: 47,043,318 (GRCm39) |
V325A |
probably benign |
Het |
| Prss36 |
T |
C |
7: 127,545,697 (GRCm39) |
|
probably benign |
Het |
| Ptpn20 |
T |
G |
14: 33,352,865 (GRCm39) |
Y201* |
probably null |
Het |
| Rundc3a |
T |
C |
11: 102,292,890 (GRCm39) |
S428P |
probably damaging |
Het |
| Rxra |
T |
A |
2: 27,649,675 (GRCm39) |
L460Q |
probably damaging |
Het |
| Sdsl |
C |
T |
5: 120,597,948 (GRCm39) |
V182M |
probably damaging |
Het |
| Slc14a2 |
A |
C |
18: 78,227,823 (GRCm39) |
I226S |
probably null |
Het |
| Spam1 |
T |
A |
6: 24,800,565 (GRCm39) |
C435S |
probably damaging |
Het |
| Spata31h1 |
T |
C |
10: 82,125,157 (GRCm39) |
K2618E |
possibly damaging |
Het |
| Stbd1 |
A |
G |
5: 92,753,277 (GRCm39) |
T256A |
possibly damaging |
Het |
| Ttc39c |
T |
A |
18: 12,853,102 (GRCm39) |
|
probably null |
Het |
| Uba3 |
T |
C |
6: 97,161,811 (GRCm39) |
D440G |
probably benign |
Het |
| Ythdf1 |
A |
C |
2: 180,553,998 (GRCm39) |
S72R |
probably benign |
Het |
| Zfp770 |
T |
C |
2: 114,026,917 (GRCm39) |
E384G |
possibly damaging |
Het |
| Zfp979 |
G |
T |
4: 147,698,358 (GRCm39) |
T117K |
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 |
|
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 |
|
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'- CCTCATACTCATAGCCACGG -3'
(R):5'- AGGTCTCCAGGGTGCTTAAC -3'
Sequencing Primer
(F):5'- CCACGGGGCTGAAAACAGC -3'
(R):5'- CTTAACCTCAGGGGGAAGGTTC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation