Incidental Mutation 'R7183:Apba2'
| ID |
559110 |
| 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 |
045235-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
R7183 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
64151454-64403626 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 64383293 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 369
(D369N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032732
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032732]
[ENSMUST00000206246]
|
| AlphaFold |
P98084 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032732
AA Change: D369N
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000032732
Gene: ENSMUSG00000030519
AA Change: D369N
| 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: D369N
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (65/65) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
T |
A |
12: 80,215,706 (GRCm39) |
M816L |
possibly damaging |
Het |
| Ahnak |
T |
C |
19: 8,995,032 (GRCm39) |
F5439L |
probably damaging |
Het |
| Arhgap32 |
A |
G |
9: 32,097,679 (GRCm39) |
N228D |
probably benign |
Het |
| Arhgap33 |
T |
A |
7: 30,225,296 (GRCm39) |
|
probably null |
Het |
| Cacna1g |
C |
T |
11: 94,330,563 (GRCm39) |
C984Y |
probably benign |
Het |
| Cadm2 |
C |
A |
16: 66,679,720 (GRCm39) |
G47* |
probably null |
Het |
| Ccdc125 |
A |
G |
13: 100,826,866 (GRCm39) |
D241G |
possibly damaging |
Het |
| Ccdc39 |
T |
G |
3: 33,868,620 (GRCm39) |
E822A |
probably damaging |
Het |
| Cd86 |
CA |
CAA |
16: 36,426,917 (GRCm39) |
|
probably null |
Het |
| Cdc42bpg |
A |
G |
19: 6,360,827 (GRCm39) |
D195G |
probably damaging |
Het |
| Cdkl1 |
T |
C |
12: 69,795,706 (GRCm39) |
R275G |
probably damaging |
Het |
| Chst4 |
T |
C |
8: 110,756,630 (GRCm39) |
N411S |
possibly damaging |
Het |
| Cir1 |
A |
G |
2: 73,116,730 (GRCm39) |
V210A |
probably damaging |
Het |
| Col6a1 |
A |
G |
10: 76,552,093 (GRCm39) |
|
probably null |
Het |
| Crmp1 |
C |
A |
5: 37,446,161 (GRCm39) |
H606N |
probably benign |
Het |
| Cyp2j8 |
A |
T |
4: 96,367,418 (GRCm39) |
N233K |
probably damaging |
Het |
| Dennd1b |
A |
T |
1: 139,097,990 (GRCm39) |
Q677L |
unknown |
Het |
| Dnah17 |
G |
A |
11: 118,020,014 (GRCm39) |
T11I |
probably benign |
Het |
| Ehd1 |
A |
G |
19: 6,347,684 (GRCm39) |
H346R |
probably benign |
Het |
| Eif1ad14 |
G |
A |
12: 87,886,492 (GRCm39) |
R46W |
possibly damaging |
Het |
| Emc3 |
G |
T |
6: 113,508,345 (GRCm39) |
Y33* |
probably null |
Het |
| Ercc5 |
A |
T |
1: 44,200,968 (GRCm39) |
|
probably null |
Het |
| Ercc5 |
G |
T |
1: 44,200,969 (GRCm39) |
|
probably null |
Het |
| Fat3 |
A |
C |
9: 15,834,133 (GRCm39) |
I4153S |
possibly damaging |
Het |
| Fn3krp |
T |
C |
11: 121,312,431 (GRCm39) |
|
probably null |
Het |
| Gmnc |
C |
T |
16: 26,779,279 (GRCm39) |
D249N |
probably benign |
Het |
| Gsn |
C |
T |
2: 35,184,960 (GRCm39) |
A305V |
probably benign |
Het |
| Haus6 |
A |
T |
4: 86,501,989 (GRCm39) |
H627Q |
possibly damaging |
Het |
| Heg1 |
A |
G |
16: 33,558,920 (GRCm39) |
|
probably null |
Het |
| Hoxd9 |
G |
T |
2: 74,528,709 (GRCm39) |
V104L |
possibly damaging |
Het |
| Igkv10-96 |
A |
C |
6: 68,609,200 (GRCm39) |
S32A |
probably benign |
Het |
| Kcnd2 |
G |
A |
6: 21,216,436 (GRCm39) |
V47M |
probably damaging |
Het |
| Mab21l3 |
C |
T |
3: 101,722,469 (GRCm39) |
V386M |
probably damaging |
Het |
| Masp2 |
A |
G |
4: 148,696,614 (GRCm39) |
S404G |
probably benign |
Het |
| Or5b102 |
A |
G |
19: 13,041,680 (GRCm39) |
I302V |
probably benign |
Het |
| Or5m12 |
T |
A |
2: 85,734,486 (GRCm39) |
Q304L |
probably benign |
Het |
| Or7g20 |
G |
T |
9: 18,946,628 (GRCm39) |
D70Y |
probably damaging |
Het |
| P4htm |
A |
T |
9: 108,459,059 (GRCm39) |
M291K |
possibly damaging |
Het |
| Pde6c |
T |
C |
19: 38,121,538 (GRCm39) |
S49P |
probably benign |
Het |
| Pdzd7 |
A |
G |
19: 45,025,553 (GRCm39) |
V314A |
probably benign |
Het |
| Pfkl |
G |
A |
10: 77,837,916 (GRCm39) |
R31* |
probably null |
Het |
| Phlpp2 |
C |
A |
8: 110,666,585 (GRCm39) |
P1038Q |
probably damaging |
Het |
| Pik3c2b |
T |
C |
1: 132,994,203 (GRCm39) |
S56P |
probably benign |
Het |
| Plec |
A |
G |
15: 76,089,905 (GRCm39) |
V145A |
unknown |
Het |
| Prg3 |
G |
A |
2: 84,821,848 (GRCm39) |
V158I |
probably benign |
Het |
| Prg3 |
G |
T |
2: 84,823,367 (GRCm39) |
D181Y |
probably damaging |
Het |
| Rbp3 |
A |
G |
14: 33,677,161 (GRCm39) |
T370A |
probably benign |
Het |
| Rgl2 |
T |
C |
17: 34,153,964 (GRCm39) |
F457L |
possibly damaging |
Het |
| Rubcnl |
T |
A |
14: 75,287,066 (GRCm39) |
M578K |
probably damaging |
Het |
| Siae |
G |
A |
9: 37,528,242 (GRCm39) |
V72M |
possibly damaging |
Het |
| Smchd1 |
A |
T |
17: 71,660,511 (GRCm39) |
D1864E |
probably benign |
Het |
| Smox |
T |
C |
2: 131,362,486 (GRCm39) |
I255T |
possibly damaging |
Het |
| Spata31e2 |
G |
A |
1: 26,721,914 (GRCm39) |
L1089F |
probably benign |
Het |
| Tas2r123 |
A |
G |
6: 132,824,661 (GRCm39) |
N186S |
possibly damaging |
Het |
| Thbs2 |
T |
A |
17: 14,910,378 (GRCm39) |
I74F |
possibly damaging |
Het |
| Timm44 |
T |
C |
8: 4,317,311 (GRCm39) |
D238G |
probably damaging |
Het |
| Tlk2 |
T |
C |
11: 105,112,185 (GRCm39) |
|
probably null |
Het |
| Tnc |
A |
G |
4: 63,931,365 (GRCm39) |
S782P |
probably damaging |
Het |
| Tpr |
A |
T |
1: 150,282,302 (GRCm39) |
K336N |
probably damaging |
Het |
| Uggt2 |
A |
T |
14: 119,257,049 (GRCm39) |
|
probably null |
Het |
| Vmn2r101 |
T |
A |
17: 19,832,440 (GRCm39) |
I812N |
probably damaging |
Het |
| Vps33a |
T |
C |
5: 123,673,278 (GRCm39) |
Q436R |
probably null |
Het |
| Ywhaq |
T |
C |
12: 21,466,870 (GRCm39) |
K75E |
possibly damaging |
Het |
| Zfp87 |
A |
G |
13: 67,665,593 (GRCm39) |
S290P |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCCATTTCTGCAGAGTGATC -3'
(R):5'- ATTTCAGAGCTCCCTCCAGG -3'
Sequencing Primer
(F):5'- CTGCAGAGTGATCTAGCCATG -3'
(R):5'- CCTGCATCATTCGGATGT -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation