Incidental Mutation 'R5478:Apba2'
| ID |
434159 |
| 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 |
043039-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
R5478 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
64151454-64403626 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 64344934 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 41
(Y41*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146038
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032732]
[ENSMUST00000205604]
[ENSMUST00000205613]
[ENSMUST00000206246]
|
| AlphaFold |
P98084 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000032732
AA Change: Y41*
|
| SMART Domains |
Protein: ENSMUSP00000032732
Gene: ENSMUSG00000030519
AA Change: Y41*
| 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 null
Transcript: ENSMUST00000107507
AA Change: Y41*
|
| SMART Domains |
Protein: ENSMUSP00000103131
Gene: ENSMUSG00000030519
AA Change: Y41*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
82 |
96 |
N/A |
INTRINSIC |
|
low complexity region
|
216 |
230 |
N/A |
INTRINSIC |
|
PTB
|
368 |
522 |
8.46e-30 |
SMART |
|
PDZ
|
566 |
644 |
6.32e-12 |
SMART |
|
PDZ
|
658 |
724 |
1.79e-11 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000137732
AA Change: Y41*
|
| SMART Domains |
Protein: ENSMUSP00000114194
Gene: ENSMUSG00000030519
AA Change: Y41*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
82 |
96 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000138829
AA Change: Y41*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000205604
AA Change: Y41*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000205613
AA Change: Y41*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000206246
AA Change: Y41*
|
| Meta Mutation Damage Score |
0.9636 |
| Coding Region Coverage |
- 1x: 98.4%
- 3x: 97.4%
- 10x: 95.4%
- 20x: 91.6%
|
| Validation Efficiency |
98% (63/64) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
T |
C |
19: 43,827,904 (GRCm39) |
|
probably benign |
Het |
| Adamts2 |
T |
C |
11: 50,683,478 (GRCm39) |
V920A |
possibly damaging |
Het |
| Alpk1 |
A |
G |
3: 127,471,368 (GRCm39) |
V1038A |
probably damaging |
Het |
| Amotl1 |
A |
G |
9: 14,504,048 (GRCm39) |
|
probably null |
Het |
| BC048562 |
G |
A |
9: 108,322,363 (GRCm39) |
|
probably benign |
Het |
| Braf |
A |
G |
6: 39,654,508 (GRCm39) |
L86P |
possibly damaging |
Het |
| Capn3 |
A |
G |
2: 120,294,666 (GRCm39) |
|
probably null |
Het |
| Carmil1 |
T |
C |
13: 24,296,028 (GRCm39) |
D371G |
probably damaging |
Het |
| Cdhr4 |
G |
A |
9: 107,872,790 (GRCm39) |
V280I |
possibly damaging |
Het |
| Cdkl2 |
T |
A |
5: 92,187,108 (GRCm39) |
K53* |
probably null |
Het |
| Chl1 |
A |
T |
6: 103,660,182 (GRCm39) |
E353D |
probably damaging |
Het |
| Col4a2 |
T |
A |
8: 11,448,697 (GRCm39) |
N72K |
probably benign |
Het |
| Comtd1 |
A |
T |
14: 21,898,981 (GRCm39) |
|
probably benign |
Het |
| Ctsm |
A |
T |
13: 61,685,543 (GRCm39) |
S290T |
probably benign |
Het |
| Defa35 |
A |
T |
8: 21,555,836 (GRCm39) |
Y65F |
probably benign |
Het |
| Dock8 |
T |
A |
19: 25,057,186 (GRCm39) |
C198S |
probably benign |
Het |
| Epha3 |
A |
C |
16: 63,403,896 (GRCm39) |
M734R |
probably damaging |
Het |
| Fastkd2 |
T |
C |
1: 63,778,345 (GRCm39) |
I406T |
probably benign |
Het |
| Fshr |
C |
T |
17: 89,309,143 (GRCm39) |
V222I |
probably benign |
Het |
| Gm16686 |
A |
T |
4: 88,673,714 (GRCm39) |
|
probably benign |
Het |
| Gm4922 |
T |
C |
10: 18,659,885 (GRCm39) |
E279G |
probably benign |
Het |
| Gm5709 |
A |
T |
3: 59,543,095 (GRCm39) |
|
noncoding transcript |
Het |
| Grin3a |
C |
A |
4: 49,792,481 (GRCm39) |
M417I |
probably benign |
Het |
| Hnf4a |
A |
T |
2: 163,410,926 (GRCm39) |
M408L |
probably benign |
Het |
| Idh1 |
A |
T |
1: 65,200,997 (GRCm39) |
M318K |
probably benign |
Het |
| Krt222 |
A |
G |
11: 99,125,774 (GRCm39) |
S286P |
probably damaging |
Het |
| Mmrn2 |
A |
T |
14: 34,118,539 (GRCm39) |
T142S |
probably benign |
Het |
| Myocd |
G |
T |
11: 65,123,914 (GRCm39) |
|
probably null |
Het |
| Ncam2 |
C |
T |
16: 81,231,766 (GRCm39) |
R77* |
probably null |
Het |
| Or52ab7 |
T |
C |
7: 102,978,032 (GRCm39) |
L113P |
probably damaging |
Het |
| Or5h17 |
A |
T |
16: 58,820,425 (GRCm39) |
I126L |
possibly damaging |
Het |
| Pcdhgc4 |
C |
T |
18: 37,950,375 (GRCm39) |
T597M |
probably damaging |
Het |
| Pdrg1 |
A |
G |
2: 152,857,152 (GRCm39) |
|
probably benign |
Het |
| Per2 |
T |
A |
1: 91,360,590 (GRCm39) |
I521F |
probably benign |
Het |
| Pkhd1 |
G |
A |
1: 20,271,380 (GRCm39) |
L3058F |
probably damaging |
Het |
| Plaat5 |
A |
C |
19: 7,592,036 (GRCm39) |
|
probably benign |
Het |
| Pnliprp1 |
A |
T |
19: 58,723,423 (GRCm39) |
|
probably null |
Het |
| Ppargc1b |
T |
A |
18: 61,440,639 (GRCm39) |
M744L |
probably benign |
Het |
| Prpf18 |
A |
T |
2: 4,643,705 (GRCm39) |
N155K |
probably benign |
Het |
| Pum1 |
T |
A |
4: 130,478,795 (GRCm39) |
N472K |
possibly damaging |
Het |
| Reln |
A |
T |
5: 22,209,201 (GRCm39) |
S1126T |
probably benign |
Het |
| Rnase11 |
A |
G |
14: 51,287,332 (GRCm39) |
L74P |
probably damaging |
Het |
| Slc25a23 |
T |
A |
17: 57,359,780 (GRCm39) |
I324F |
probably damaging |
Het |
| Slc26a10 |
C |
A |
10: 127,009,818 (GRCm39) |
R576L |
probably benign |
Het |
| Slc4a1 |
T |
A |
11: 102,241,140 (GRCm39) |
E921D |
probably damaging |
Het |
| Slc9c1 |
A |
T |
16: 45,374,609 (GRCm39) |
M296L |
probably damaging |
Het |
| Sos1 |
T |
C |
17: 80,741,276 (GRCm39) |
D503G |
probably damaging |
Het |
| Srpk2 |
G |
A |
5: 23,729,181 (GRCm39) |
T486I |
possibly damaging |
Het |
| Sult6b1 |
A |
T |
17: 79,202,101 (GRCm39) |
|
probably null |
Het |
| Tbc1d16 |
T |
C |
11: 119,045,917 (GRCm39) |
E509G |
probably benign |
Het |
| Tktl2 |
T |
C |
8: 66,966,050 (GRCm39) |
V536A |
probably damaging |
Het |
| Ugt2b36 |
A |
T |
5: 87,237,341 (GRCm39) |
V188D |
probably damaging |
Het |
| Veph1 |
T |
C |
3: 66,162,443 (GRCm39) |
T72A |
probably damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,518,996 (GRCm39) |
I542N |
probably damaging |
Het |
| Vps13d |
G |
A |
4: 144,894,120 (GRCm39) |
P480S |
probably damaging |
Het |
| Zfp319 |
A |
G |
8: 96,052,193 (GRCm39) |
|
probably benign |
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 |
|
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'- GGCACATGTCTTAGGTTGGC -3'
(R):5'- TGTAGTAGGTGACACCCTCC -3'
Sequencing Primer
(F):5'- CCATGGTCTAATGTGAGGCTCTC -3'
(R):5'- GTAGTAGGTGACACCCTCCTCCTC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation