Incidental Mutation 'R3438:Appbp2'
| ID |
267289 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Appbp2
|
| Ensembl Gene |
ENSMUSG00000018481 |
| Gene Name |
amyloid beta precursor protein binding protein 2 |
| Synonyms |
1300003O07Rik, PAT1 |
| MMRRC Submission |
040656-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.743)
|
| Stock # |
R3438 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
85082134-85125946 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85088966 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 358
(E358G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018625
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018625]
|
| AlphaFold |
Q9DAX9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018625
AA Change: E358G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000018625
Gene: ENSMUSG00000018481
AA Change: E358G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPR_12
|
395 |
461 |
6.5e-13 |
PFAM |
|
Pfam:TPR_10
|
428 |
467 |
1.1e-9 |
PFAM |
|
Pfam:TPR_7
|
432 |
466 |
1.2e-5 |
PFAM |
|
Pfam:TPR_10
|
470 |
509 |
8.9e-7 |
PFAM |
|
| Meta Mutation Damage Score |
0.1457 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
97% (37/38) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene interacts with microtubules and is functionally associated with beta-amyloid precursor protein transport and/or processing. The beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimer's disease. The encoded protein may be involved in regulating cell death. This gene has been found to be highly expressed in breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017G19Rik |
A |
G |
3: 40,575,673 (GRCm39) |
|
noncoding transcript |
Het |
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Ampd3 |
T |
C |
7: 110,402,433 (GRCm39) |
I479T |
probably damaging |
Het |
| Aoah |
G |
A |
13: 21,101,242 (GRCm39) |
R254K |
probably benign |
Het |
| Col6a5 |
A |
G |
9: 105,752,991 (GRCm39) |
S2294P |
possibly damaging |
Het |
| Cux1 |
T |
C |
5: 136,340,414 (GRCm39) |
E632G |
probably damaging |
Het |
| Cyp7a1 |
T |
C |
4: 6,272,769 (GRCm39) |
N148S |
probably damaging |
Het |
| Dgkz |
A |
T |
2: 91,764,395 (GRCm39) |
|
probably benign |
Het |
| Dlgap1 |
A |
T |
17: 70,823,356 (GRCm39) |
S114C |
probably damaging |
Het |
| Dmtn |
T |
A |
14: 70,850,156 (GRCm39) |
I263F |
probably damaging |
Het |
| Gigyf2 |
C |
A |
1: 87,368,302 (GRCm39) |
H1029N |
probably damaging |
Het |
| Gm10770 |
T |
A |
2: 150,021,469 (GRCm39) |
|
probably null |
Het |
| Gnb1l |
A |
G |
16: 18,371,117 (GRCm39) |
T203A |
probably benign |
Het |
| Kng2 |
T |
C |
16: 22,830,821 (GRCm39) |
I163V |
probably benign |
Het |
| Lamc1 |
T |
C |
1: 153,102,161 (GRCm39) |
D1479G |
probably benign |
Het |
| Larp7-ps |
A |
C |
4: 92,079,919 (GRCm39) |
V23G |
possibly damaging |
Het |
| Lhx4 |
T |
A |
1: 155,578,230 (GRCm39) |
D304V |
probably benign |
Het |
| Mybl1 |
G |
T |
1: 9,757,870 (GRCm39) |
T143K |
probably damaging |
Het |
| Notch3 |
C |
T |
17: 32,372,564 (GRCm39) |
C630Y |
probably damaging |
Het |
| Oas1e |
T |
C |
5: 120,933,475 (GRCm39) |
E30G |
probably damaging |
Het |
| Or4c114 |
T |
C |
2: 88,904,707 (GRCm39) |
I243V |
probably benign |
Het |
| Or8b55 |
T |
G |
9: 38,727,512 (GRCm39) |
F238V |
probably damaging |
Het |
| Or9e1 |
G |
T |
11: 58,732,698 (GRCm39) |
G253* |
probably null |
Het |
| Otoa |
A |
G |
7: 120,759,566 (GRCm39) |
E1056G |
possibly damaging |
Het |
| Plin4 |
A |
G |
17: 56,414,193 (GRCm39) |
V144A |
probably benign |
Het |
| Sec16b |
T |
C |
1: 157,384,328 (GRCm39) |
|
probably benign |
Het |
| Stk31 |
A |
G |
6: 49,414,455 (GRCm39) |
S485G |
probably benign |
Het |
| Tanc2 |
C |
T |
11: 105,748,401 (GRCm39) |
P511L |
probably damaging |
Het |
| Utrn |
T |
C |
10: 12,357,062 (GRCm39) |
D309G |
probably damaging |
Het |
| Vpreb3 |
C |
T |
10: 75,779,056 (GRCm39) |
|
probably benign |
Het |
| Vsx2 |
A |
T |
12: 84,616,985 (GRCm39) |
Q90L |
probably damaging |
Het |
|
| Other mutations in Appbp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01736:Appbp2
|
APN |
11 |
85,105,143 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02112:Appbp2
|
APN |
11 |
85,092,446 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03051:Appbp2
|
APN |
11 |
85,082,565 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03068:Appbp2
|
APN |
11 |
85,092,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03260:Appbp2
|
APN |
11 |
85,107,283 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03358:Appbp2
|
APN |
11 |
85,100,860 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0017:Appbp2
|
UTSW |
11 |
85,105,129 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0267:Appbp2
|
UTSW |
11 |
85,092,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0504:Appbp2
|
UTSW |
11 |
85,082,513 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1661:Appbp2
|
UTSW |
11 |
85,100,936 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3817:Appbp2
|
UTSW |
11 |
85,088,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3950:Appbp2
|
UTSW |
11 |
85,085,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4273:Appbp2
|
UTSW |
11 |
85,125,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4574:Appbp2
|
UTSW |
11 |
85,100,764 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4948:Appbp2
|
UTSW |
11 |
85,085,409 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5322:Appbp2
|
UTSW |
11 |
85,086,890 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5581:Appbp2
|
UTSW |
11 |
85,100,921 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5593:Appbp2
|
UTSW |
11 |
85,085,409 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5698:Appbp2
|
UTSW |
11 |
85,100,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7095:Appbp2
|
UTSW |
11 |
85,125,553 (GRCm39) |
nonsense |
probably null |
|
|
R7141:Appbp2
|
UTSW |
11 |
85,082,577 (GRCm39) |
nonsense |
probably null |
|
|
R9410:Appbp2
|
UTSW |
11 |
85,106,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9530:Appbp2
|
UTSW |
11 |
85,107,306 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0058:Appbp2
|
UTSW |
11 |
85,092,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAAGGGCTCAAGTGAAGC -3'
(R):5'- ACCCAATCTGTGTGCATTCTG -3'
Sequencing Primer
(F):5'- CAGAGCTGAGGGAACTATTTTAGTC -3'
(R):5'- TGCATTCTGGGACCTGAAC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation