Incidental Mutation 'R7183:Apba2'
| ID |
559110 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Apba2
|
| Ensembl Gene |
ENSMUSG00000030519 |
| Gene Name |
amyloid beta (A4) precursor protein-binding, family A, member 2 |
| Synonyms |
X11L, X11-like, Mint 2 |
| MMRRC Submission |
045235-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.136)
|
| Stock # |
R7183 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
64501706-64753878 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 64733545 bp (GRCm38)
|
| 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 |
|---|
| 4931408C20Rik |
G |
A |
1: 26,682,833 (GRCm38) |
L1089F |
probably benign |
Het |
| Actn1 |
T |
A |
12: 80,168,932 (GRCm38) |
M816L |
possibly damaging |
Het |
| Ahnak |
T |
C |
19: 9,017,668 (GRCm38) |
F5439L |
probably damaging |
Het |
| Arhgap32 |
A |
G |
9: 32,186,383 (GRCm38) |
N228D |
probably benign |
Het |
| Arhgap33 |
T |
A |
7: 30,525,871 (GRCm38) |
|
probably null |
Het |
| Cacna1g |
C |
T |
11: 94,439,737 (GRCm38) |
C984Y |
probably benign |
Het |
| Cadm2 |
C |
A |
16: 66,882,832 (GRCm38) |
G47* |
probably null |
Het |
| Ccdc125 |
A |
G |
13: 100,690,358 (GRCm38) |
D241G |
possibly damaging |
Het |
| Ccdc39 |
T |
G |
3: 33,814,471 (GRCm38) |
E822A |
probably damaging |
Het |
| Cd86 |
CA |
CAA |
16: 36,606,555 (GRCm38) |
|
probably null |
Het |
| Cdc42bpg |
A |
G |
19: 6,310,797 (GRCm38) |
D195G |
probably damaging |
Het |
| Cdkl1 |
T |
C |
12: 69,748,932 (GRCm38) |
R275G |
probably damaging |
Het |
| Chst4 |
T |
C |
8: 110,029,998 (GRCm38) |
N411S |
possibly damaging |
Het |
| Cir1 |
A |
G |
2: 73,286,386 (GRCm38) |
V210A |
probably damaging |
Het |
| Col6a1 |
A |
G |
10: 76,716,259 (GRCm38) |
|
probably null |
Het |
| Crmp1 |
C |
A |
5: 37,288,817 (GRCm38) |
H606N |
probably benign |
Het |
| Cyp2j8 |
A |
T |
4: 96,479,181 (GRCm38) |
N233K |
probably damaging |
Het |
| Dennd1b |
A |
T |
1: 139,170,252 (GRCm38) |
Q677L |
unknown |
Het |
| Dnah17 |
G |
A |
11: 118,129,188 (GRCm38) |
T11I |
probably benign |
Het |
| Ehd1 |
A |
G |
19: 6,297,654 (GRCm38) |
H346R |
probably benign |
Het |
| Emc3 |
G |
T |
6: 113,531,384 (GRCm38) |
Y33* |
probably null |
Het |
| Ercc5 |
A |
T |
1: 44,161,808 (GRCm38) |
|
probably null |
Het |
| Ercc5 |
G |
T |
1: 44,161,809 (GRCm38) |
|
probably null |
Het |
| Fat3 |
A |
C |
9: 15,922,837 (GRCm38) |
I4153S |
possibly damaging |
Het |
| Fn3krp |
T |
C |
11: 121,421,605 (GRCm38) |
|
probably null |
Het |
| Gm2035 |
G |
A |
12: 87,919,722 (GRCm38) |
R46W |
possibly damaging |
Het |
| Gmnc |
C |
T |
16: 26,960,529 (GRCm38) |
D249N |
probably benign |
Het |
| Gsn |
C |
T |
2: 35,294,948 (GRCm38) |
A305V |
probably benign |
Het |
| Haus6 |
A |
T |
4: 86,583,752 (GRCm38) |
H627Q |
possibly damaging |
Het |
| Heg1 |
A |
G |
16: 33,738,550 (GRCm38) |
|
probably null |
Het |
| Hoxd9 |
G |
T |
2: 74,698,365 (GRCm38) |
V104L |
possibly damaging |
Het |
| Igkv10-96 |
A |
C |
6: 68,632,216 (GRCm38) |
S32A |
probably benign |
Het |
| Kcnd2 |
G |
A |
6: 21,216,437 (GRCm38) |
V47M |
probably damaging |
Het |
| Mab21l3 |
C |
T |
3: 101,815,153 (GRCm38) |
V386M |
probably damaging |
Het |
| Masp2 |
A |
G |
4: 148,612,157 (GRCm38) |
S404G |
probably benign |
Het |
| Olfr1024 |
T |
A |
2: 85,904,142 (GRCm38) |
Q304L |
probably benign |
Het |
| Olfr1454 |
A |
G |
19: 13,064,316 (GRCm38) |
I302V |
probably benign |
Het |
| Olfr835 |
G |
T |
9: 19,035,332 (GRCm38) |
D70Y |
probably damaging |
Het |
| P4htm |
A |
T |
9: 108,581,860 (GRCm38) |
M291K |
possibly damaging |
Het |
| Pde6c |
T |
C |
19: 38,133,090 (GRCm38) |
S49P |
probably benign |
Het |
| Pdzd7 |
A |
G |
19: 45,037,114 (GRCm38) |
V314A |
probably benign |
Het |
| Pfkl |
G |
A |
10: 78,002,082 (GRCm38) |
R31* |
probably null |
Het |
| Phlpp2 |
C |
A |
8: 109,939,953 (GRCm38) |
P1038Q |
probably damaging |
Het |
| Pik3c2b |
T |
C |
1: 133,066,465 (GRCm38) |
S56P |
probably benign |
Het |
| Plec |
A |
G |
15: 76,205,705 (GRCm38) |
V145A |
unknown |
Het |
| Prg3 |
G |
A |
2: 84,991,504 (GRCm38) |
V158I |
probably benign |
Het |
| Prg3 |
G |
T |
2: 84,993,023 (GRCm38) |
D181Y |
probably damaging |
Het |
| Rbp3 |
A |
G |
14: 33,955,204 (GRCm38) |
T370A |
probably benign |
Het |
| Rgl2 |
T |
C |
17: 33,934,990 (GRCm38) |
F457L |
possibly damaging |
Het |
| Rubcnl |
T |
A |
14: 75,049,626 (GRCm38) |
M578K |
probably damaging |
Het |
| Siae |
G |
A |
9: 37,616,946 (GRCm38) |
V72M |
possibly damaging |
Het |
| Smchd1 |
A |
T |
17: 71,353,516 (GRCm38) |
D1864E |
probably benign |
Het |
| Smox |
T |
C |
2: 131,520,566 (GRCm38) |
I255T |
possibly damaging |
Het |
| Tas2r123 |
A |
G |
6: 132,847,698 (GRCm38) |
N186S |
possibly damaging |
Het |
| Thbs2 |
T |
A |
17: 14,690,116 (GRCm38) |
I74F |
possibly damaging |
Het |
| Timm44 |
T |
C |
8: 4,267,311 (GRCm38) |
D238G |
probably damaging |
Het |
| Tlk2 |
T |
C |
11: 105,221,359 (GRCm38) |
|
probably null |
Het |
| Tnc |
A |
G |
4: 64,013,128 (GRCm38) |
S782P |
probably damaging |
Het |
| Tpr |
A |
T |
1: 150,406,551 (GRCm38) |
K336N |
probably damaging |
Het |
| Uggt2 |
A |
T |
14: 119,019,637 (GRCm38) |
|
probably null |
Het |
| Vmn2r101 |
T |
A |
17: 19,612,178 (GRCm38) |
I812N |
probably damaging |
Het |
| Vps33a |
T |
C |
5: 123,535,215 (GRCm38) |
Q436R |
probably null |
Het |
| Ywhaq |
T |
C |
12: 21,416,869 (GRCm38) |
K75E |
possibly damaging |
Het |
| Zfp87 |
A |
G |
13: 67,517,474 (GRCm38) |
S290P |
probably damaging |
Het |
|
| Other mutations in Apba2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00340:Apba2
|
APN |
7 |
64,736,941 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
IGL01716:Apba2
|
APN |
7 |
64,745,826 (GRCm38) |
splice site |
probably benign |
|
|
IGL02218:Apba2
|
APN |
7 |
64,695,677 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02343:Apba2
|
APN |
7 |
64,695,146 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL03265:Apba2
|
APN |
7 |
64,695,323 (GRCm38) |
missense |
probably damaging |
1.00 |
|
guadalupe
|
UTSW |
7 |
64,750,164 (GRCm38) |
missense |
probably damaging |
1.00 |
|
LCD18:Apba2
|
UTSW |
7 |
64,622,160 (GRCm38) |
intron |
probably benign |
|
|
R0395:Apba2
|
UTSW |
7 |
64,743,408 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0554:Apba2
|
UTSW |
7 |
64,745,780 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0624:Apba2
|
UTSW |
7 |
64,714,515 (GRCm38) |
splice site |
probably null |
|
|
R0733:Apba2
|
UTSW |
7 |
64,750,164 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1107:Apba2
|
UTSW |
7 |
64,745,719 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R1464:Apba2
|
UTSW |
7 |
64,695,549 (GRCm38) |
missense |
probably benign |
|
|
R1464:Apba2
|
UTSW |
7 |
64,695,549 (GRCm38) |
missense |
probably benign |
|
|
R1486:Apba2
|
UTSW |
7 |
64,736,948 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1895:Apba2
|
UTSW |
7 |
64,744,630 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1942:Apba2
|
UTSW |
7 |
64,695,470 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1946:Apba2
|
UTSW |
7 |
64,744,630 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2002:Apba2
|
UTSW |
7 |
64,733,542 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2089:Apba2
|
UTSW |
7 |
64,695,593 (GRCm38) |
missense |
probably benign |
0.02 |
|
R2091:Apba2
|
UTSW |
7 |
64,695,593 (GRCm38) |
missense |
probably benign |
0.02 |
|
R2091:Apba2
|
UTSW |
7 |
64,695,593 (GRCm38) |
missense |
probably benign |
0.02 |
|
R2571:Apba2
|
UTSW |
7 |
64,745,750 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R3035:Apba2
|
UTSW |
7 |
64,739,792 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4620:Apba2
|
UTSW |
7 |
64,714,467 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5468:Apba2
|
UTSW |
7 |
64,745,762 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5478:Apba2
|
UTSW |
7 |
64,695,186 (GRCm38) |
nonsense |
probably null |
|
|
R5644:Apba2
|
UTSW |
7 |
64,715,511 (GRCm38) |
missense |
probably benign |
|
|
R5645:Apba2
|
UTSW |
7 |
64,695,806 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5941:Apba2
|
UTSW |
7 |
64,745,716 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5969:Apba2
|
UTSW |
7 |
64,744,447 (GRCm38) |
nonsense |
probably null |
|
|
R6190:Apba2
|
UTSW |
7 |
64,739,880 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6806:Apba2
|
UTSW |
7 |
64,695,459 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7098:Apba2
|
UTSW |
7 |
64,736,948 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7143:Apba2
|
UTSW |
7 |
64,744,417 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7260:Apba2
|
UTSW |
7 |
64,739,745 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7479:Apba2
|
UTSW |
7 |
64,739,859 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R7677:Apba2
|
UTSW |
7 |
64,695,097 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7959:Apba2
|
UTSW |
7 |
64,695,823 (GRCm38) |
missense |
probably benign |
|
|
R8325:Apba2
|
UTSW |
7 |
64,695,982 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8376:Apba2
|
UTSW |
7 |
64,695,593 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8411:Apba2
|
UTSW |
7 |
64,736,926 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8412:Apba2
|
UTSW |
7 |
64,745,798 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8857:Apba2
|
UTSW |
7 |
64,750,191 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R9040:Apba2
|
UTSW |
7 |
64,743,324 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R9265:Apba2
|
UTSW |
7 |
64,743,272 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9356:Apba2
|
UTSW |
7 |
64,695,673 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9569:Apba2
|
UTSW |
7 |
64,743,390 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R9667:Apba2
|
UTSW |
7 |
64,695,314 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
Z1177:Apba2
|
UTSW |
7 |
64,750,235 (GRCm38) |
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