Incidental Mutation 'R5468:Apba2'
| ID |
433339 |
| 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 |
043029-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
R5468 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
64151454-64403626 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 64395510 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 662
(L662P)
|
| 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: L662P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032732
Gene: ENSMUSG00000030519
AA Change: L662P
| 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 damaging
Transcript: ENSMUST00000096173
AA Change: L111P
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000093887
Gene: ENSMUSG00000030519
AA Change: L111P
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
27 |
105 |
6.32e-12 |
SMART |
|
PDZ
|
119 |
185 |
1.79e-11 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205551
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206061
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206246
AA Change: L650P
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000206630
AA Change: L37P
|
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 91.0%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700008O03Rik |
C |
T |
7: 44,009,659 (GRCm39) |
R181Q |
probably damaging |
Het |
| Abca13 |
T |
A |
11: 9,244,062 (GRCm39) |
L1975Q |
probably damaging |
Het |
| Acp2 |
T |
A |
2: 91,036,443 (GRCm39) |
I180N |
probably benign |
Het |
| Adam12 |
T |
C |
7: 133,577,202 (GRCm39) |
D221G |
probably damaging |
Het |
| Adamts4 |
A |
G |
1: 171,080,178 (GRCm39) |
T244A |
probably benign |
Het |
| Adrb2 |
A |
T |
18: 62,312,696 (GRCm39) |
I43N |
probably damaging |
Het |
| Anxa1 |
A |
T |
19: 20,355,847 (GRCm39) |
Y207N |
probably damaging |
Het |
| Arhgap18 |
T |
A |
10: 26,788,667 (GRCm39) |
I593K |
probably damaging |
Het |
| Arsj |
T |
C |
3: 126,232,037 (GRCm39) |
V261A |
possibly damaging |
Het |
| Atp7b |
A |
T |
8: 22,549,986 (GRCm39) |
|
probably null |
Het |
| C2cd2 |
C |
T |
16: 97,669,791 (GRCm39) |
|
probably null |
Het |
| Cenpf |
A |
T |
1: 189,384,568 (GRCm39) |
S2571T |
probably damaging |
Het |
| Cep162 |
A |
C |
9: 87,109,290 (GRCm39) |
L438V |
probably benign |
Het |
| Cfap74 |
A |
T |
4: 155,510,498 (GRCm39) |
N361I |
probably benign |
Het |
| Cntn5 |
A |
G |
9: 9,743,633 (GRCm39) |
I548T |
probably damaging |
Het |
| Cracd |
A |
T |
5: 76,988,610 (GRCm39) |
|
probably benign |
Het |
| Dglucy |
A |
G |
12: 100,816,594 (GRCm39) |
N382S |
probably benign |
Het |
| Dnah10 |
C |
A |
5: 124,907,557 (GRCm39) |
N4306K |
probably damaging |
Het |
| Fam181a |
A |
T |
12: 103,282,937 (GRCm39) |
M281L |
probably benign |
Het |
| Fam186b |
A |
G |
15: 99,176,751 (GRCm39) |
I713T |
possibly damaging |
Het |
| Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
| Fry |
A |
T |
5: 150,323,053 (GRCm39) |
Y1068F |
probably benign |
Het |
| Fubp3 |
A |
G |
2: 31,493,247 (GRCm39) |
I231V |
probably benign |
Het |
| Gbf1 |
A |
G |
19: 46,272,735 (GRCm39) |
D1681G |
possibly damaging |
Het |
| Gm10999 |
G |
A |
8: 129,858,130 (GRCm39) |
P5S |
probably damaging |
Het |
| Gm12689 |
T |
C |
4: 99,184,402 (GRCm39) |
I85T |
unknown |
Het |
| Impg1 |
T |
C |
9: 80,347,318 (GRCm39) |
I9V |
probably benign |
Het |
| Lama4 |
A |
G |
10: 38,948,678 (GRCm39) |
|
probably null |
Het |
| Lamc1 |
A |
G |
1: 153,109,310 (GRCm39) |
S1161P |
probably damaging |
Het |
| Lipm |
T |
A |
19: 34,086,954 (GRCm39) |
|
probably null |
Het |
| Lrrc7 |
G |
T |
3: 158,024,073 (GRCm39) |
N107K |
probably damaging |
Het |
| Lypd8 |
T |
C |
11: 58,277,586 (GRCm39) |
S123P |
probably damaging |
Het |
| Man2a2 |
T |
C |
7: 80,002,729 (GRCm39) |
D1084G |
probably damaging |
Het |
| Man2b2 |
A |
G |
5: 36,964,519 (GRCm39) |
S1000P |
probably benign |
Het |
| Ms4a7 |
C |
T |
19: 11,299,778 (GRCm39) |
C71Y |
probably benign |
Het |
| Mtus1 |
A |
G |
8: 41,537,615 (GRCm39) |
S34P |
probably benign |
Het |
| Myo3b |
A |
G |
2: 70,064,785 (GRCm39) |
N406S |
probably benign |
Het |
| Nbr1 |
A |
T |
11: 101,463,290 (GRCm39) |
M586L |
probably benign |
Het |
| Nfatc1 |
C |
T |
18: 80,693,070 (GRCm39) |
R677H |
probably benign |
Het |
| Nlrc3 |
A |
C |
16: 3,781,899 (GRCm39) |
S503R |
probably damaging |
Het |
| Nlrp9c |
A |
T |
7: 26,064,425 (GRCm39) |
F968I |
probably benign |
Het |
| Onecut1 |
A |
T |
9: 74,770,614 (GRCm39) |
T346S |
probably damaging |
Het |
| Or1j12 |
A |
T |
2: 36,343,455 (GRCm39) |
N286I |
probably damaging |
Het |
| Or8b35 |
G |
A |
9: 37,904,307 (GRCm39) |
C168Y |
probably damaging |
Het |
| Or8g32 |
A |
G |
9: 39,305,257 (GRCm39) |
N57D |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,730,966 (GRCm39) |
K3156M |
unknown |
Het |
| Pigo |
C |
T |
4: 43,024,562 (GRCm39) |
|
probably null |
Het |
| Plcb4 |
T |
C |
2: 135,809,072 (GRCm39) |
F580S |
probably damaging |
Het |
| Plekhm2 |
G |
T |
4: 141,355,411 (GRCm39) |
P879H |
probably damaging |
Het |
| Ppm1e |
T |
A |
11: 87,121,716 (GRCm39) |
Y747F |
probably benign |
Het |
| Ppwd1 |
A |
G |
13: 104,361,952 (GRCm39) |
F69L |
possibly damaging |
Het |
| Prss27 |
C |
A |
17: 24,257,287 (GRCm39) |
Q3K |
possibly damaging |
Het |
| Prss29 |
T |
A |
17: 25,540,020 (GRCm39) |
N139K |
possibly damaging |
Het |
| Qrich2 |
T |
A |
11: 116,339,191 (GRCm39) |
T1777S |
probably damaging |
Het |
| Rbp3 |
A |
T |
14: 33,678,584 (GRCm39) |
H844L |
possibly damaging |
Het |
| Rubcnl |
G |
A |
14: 75,269,471 (GRCm39) |
C43Y |
possibly damaging |
Het |
| Sec14l5 |
A |
G |
16: 4,985,004 (GRCm39) |
|
probably null |
Het |
| Sepsecs |
A |
T |
5: 52,801,356 (GRCm39) |
N435K |
probably damaging |
Het |
| Sfrp1 |
A |
G |
8: 23,936,226 (GRCm39) |
K223E |
probably benign |
Het |
| Sh3tc2 |
G |
A |
18: 62,106,502 (GRCm39) |
|
probably null |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Tmprss7 |
A |
G |
16: 45,476,811 (GRCm39) |
F817S |
probably damaging |
Het |
| Tril |
T |
C |
6: 53,796,632 (GRCm39) |
N197D |
probably damaging |
Het |
| Tspan18 |
T |
C |
2: 93,040,207 (GRCm39) |
T183A |
probably benign |
Het |
| Uroc1 |
A |
T |
6: 90,315,586 (GRCm39) |
M156L |
probably benign |
Het |
| Wnt16 |
T |
C |
6: 22,291,160 (GRCm39) |
V196A |
probably benign |
Het |
| Xpnpep1 |
A |
G |
19: 52,983,950 (GRCm39) |
Y592H |
probably benign |
Het |
| Zfp553 |
T |
C |
7: 126,836,202 (GRCm39) |
S586P |
probably benign |
Het |
| Zfp619 |
C |
T |
7: 39,185,152 (GRCm39) |
A394V |
unknown |
Het |
| Zfp985 |
A |
G |
4: 147,667,702 (GRCm39) |
Y190C |
probably benign |
Het |
| Zmynd10 |
T |
A |
9: 107,427,536 (GRCm39) |
D309E |
probably benign |
Het |
| Zmynd15 |
T |
C |
11: 70,352,646 (GRCm39) |
L73P |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGAGGGCGTTTGGTTAGAC -3'
(R):5'- TGCCCCATCCAGACCTATTG -3'
Sequencing Primer
(F):5'- GAGAAAGTTCTTTTGTATGCAGCC -3'
(R):5'- CCATCCAGACCTATTGGGAGG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation