Incidental Mutation 'R9265:Apba2'
| ID |
702479 |
| 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: 0.169)
|
| Stock # |
R9265 (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 T
at 64393020 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 514
(A514S)
|
| 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: A514S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000032732
Gene: ENSMUSG00000030519
AA Change: A514S
| 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: ENSMUST00000206246
AA Change: A502S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206630
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (46/47) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh3a2 |
T |
C |
11: 61,153,094 (GRCm39) |
K211E |
probably damaging |
Het |
| Aspm |
C |
T |
1: 139,389,182 (GRCm39) |
T615I |
probably benign |
Het |
| Atrnl1 |
T |
A |
19: 57,766,359 (GRCm39) |
F1232Y |
probably benign |
Het |
| B4galt3 |
A |
G |
1: 171,101,617 (GRCm39) |
D197G |
probably damaging |
Het |
| Calcrl |
T |
G |
2: 84,200,400 (GRCm39) |
N127H |
possibly damaging |
Het |
| Camkv |
T |
G |
9: 107,825,262 (GRCm39) |
I421S |
possibly damaging |
Het |
| Cdc123 |
T |
C |
2: 5,808,765 (GRCm39) |
D237G |
possibly damaging |
Het |
| Cilp |
A |
G |
9: 65,187,333 (GRCm39) |
T1143A |
probably benign |
Het |
| Col5a1 |
G |
A |
2: 27,854,123 (GRCm39) |
R569K |
unknown |
Het |
| Cpn1 |
T |
C |
19: 43,958,599 (GRCm39) |
I201V |
probably damaging |
Het |
| Cr1l |
T |
C |
1: 194,806,027 (GRCm39) |
D152G |
probably benign |
Het |
| Csf2rb |
A |
T |
15: 78,232,746 (GRCm39) |
E684D |
probably benign |
Het |
| Csmd2 |
A |
T |
4: 128,294,163 (GRCm39) |
N1164I |
|
Het |
| Ddx42 |
A |
G |
11: 106,132,435 (GRCm39) |
N486S |
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,060,040 (GRCm39) |
I2848T |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,674,505 (GRCm39) |
D424G |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,732,081 (GRCm39) |
H4275R |
probably benign |
Het |
| Epha6 |
G |
A |
16: 59,476,117 (GRCm39) |
T1083M |
probably damaging |
Het |
| Fzd1 |
A |
G |
5: 4,807,216 (GRCm39) |
I122T |
probably damaging |
Het |
| Gm28042 |
T |
C |
2: 119,871,705 (GRCm39) |
F914S |
probably damaging |
Het |
| Gpatch11 |
A |
G |
17: 79,146,547 (GRCm39) |
D64G |
probably benign |
Het |
| Hinfp |
A |
G |
9: 44,209,083 (GRCm39) |
V345A |
possibly damaging |
Het |
| Hoxd8 |
C |
T |
2: 74,536,115 (GRCm39) |
S75L |
probably benign |
Het |
| Igsf1 |
A |
G |
X: 48,884,191 (GRCm39) |
M2T |
possibly damaging |
Het |
| Krt42 |
C |
T |
11: 100,157,808 (GRCm39) |
E219K |
probably damaging |
Het |
| Mcm3 |
C |
A |
1: 20,879,905 (GRCm39) |
D531Y |
probably damaging |
Het |
| Msantd1 |
C |
T |
5: 35,080,861 (GRCm39) |
R264* |
probably null |
Het |
| Nadk2 |
A |
G |
15: 9,071,774 (GRCm39) |
T65A |
probably damaging |
Het |
| Nbea |
AC |
A |
3: 55,998,393 (GRCm39) |
|
probably null |
Het |
| Neb |
T |
C |
2: 52,089,456 (GRCm39) |
D5172G |
probably null |
Het |
| Nlrp9a |
G |
T |
7: 26,258,038 (GRCm39) |
R552I |
possibly damaging |
Het |
| Nr3c2 |
A |
G |
8: 77,636,236 (GRCm39) |
T446A |
probably benign |
Het |
| Or4x11 |
T |
C |
2: 89,867,842 (GRCm39) |
I193T |
probably benign |
Het |
| Or51g2 |
C |
T |
7: 102,623,112 (GRCm39) |
W29* |
probably null |
Het |
| Or52s6 |
C |
A |
7: 103,092,165 (GRCm39) |
R55L |
possibly damaging |
Het |
| Or7g21 |
T |
A |
9: 19,032,984 (GRCm39) |
C241* |
probably null |
Het |
| Pcdhb10 |
A |
G |
18: 37,546,553 (GRCm39) |
Q543R |
possibly damaging |
Het |
| Pcdhga6 |
A |
G |
18: 37,841,102 (GRCm39) |
H274R |
possibly damaging |
Het |
| Pknox1 |
A |
G |
17: 31,809,672 (GRCm39) |
D92G |
probably damaging |
Het |
| Pnpla6 |
C |
T |
8: 3,573,294 (GRCm39) |
P386L |
probably benign |
Het |
| Rlf |
G |
C |
4: 121,007,487 (GRCm39) |
P608A |
possibly damaging |
Het |
| Sardh |
A |
T |
2: 27,105,065 (GRCm39) |
I686N |
probably damaging |
Het |
| Sstr3 |
G |
T |
15: 78,423,792 (GRCm39) |
N318K |
probably damaging |
Het |
| St6gal1 |
A |
G |
16: 23,140,168 (GRCm39) |
Y113C |
probably damaging |
Het |
| Syndig1 |
T |
C |
2: 149,845,160 (GRCm39) |
F228L |
probably damaging |
Het |
| Ttll5 |
T |
A |
12: 85,937,795 (GRCm39) |
C375* |
probably null |
Het |
| Zscan4c |
T |
A |
7: 10,740,824 (GRCm39) |
S114R |
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 |
|
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 |
|
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'- AGAGAGGCTCATCATGGTGG -3'
(R):5'- GAGAAAGTTTTGGAGGCCCC -3'
Sequencing Primer
(F):5'- CTCATCATGGTGGCCTGAG -3'
(R):5'- CCGATGTGGCTTACCTCCTTG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation