Incidental Mutation 'R3017:Aplp1'
ID |
257667 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aplp1
|
Ensembl Gene |
ENSMUSG00000006651 |
Gene Name |
amyloid beta precursor like protein 1 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3017 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
30134407-30144960 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to T
at 30135396 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000006828
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006828]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000006828
|
SMART Domains |
Protein: ENSMUSP00000006828 Gene: ENSMUSG00000006651
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
38 |
N/A |
INTRINSIC |
A4_EXTRA
|
46 |
211 |
1.72e-114 |
SMART |
low complexity region
|
234 |
247 |
N/A |
INTRINSIC |
low complexity region
|
259 |
277 |
N/A |
INTRINSIC |
Pfam:APP_E2
|
289 |
471 |
9.3e-72 |
PFAM |
Pfam:APP_amyloid
|
600 |
651 |
9.4e-25 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207514
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207662
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208404
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208792
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.4%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the highly conserved amyloid precursor protein gene family. The encoded protein is a membrane-associated glycoprotein that is cleaved by secretases in a manner similar to amyloid beta A4 precursor protein cleavage. This cleavage liberates an intracellular cytoplasmic fragment that may act as a transcriptional activator. The encoded protein may also play a role in synaptic maturation during cortical development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] PHENOTYPE: Animals homozygous for a mutation in this gene show a 10% decrease in body weight at 9 weeks of age. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 16 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aox4 |
T |
C |
1: 58,274,363 (GRCm39) |
V383A |
probably benign |
Het |
Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
Gmnc |
G |
A |
16: 26,779,165 (GRCm39) |
H281Y |
probably benign |
Het |
Gusb |
T |
C |
5: 130,029,325 (GRCm39) |
D152G |
probably damaging |
Het |
Kcnk4 |
A |
T |
19: 6,905,162 (GRCm39) |
V163E |
probably damaging |
Het |
Lcmt1 |
T |
G |
7: 123,029,359 (GRCm39) |
L327W |
probably damaging |
Het |
Med18 |
G |
A |
4: 132,187,128 (GRCm39) |
R124C |
probably damaging |
Het |
Odf1 |
A |
G |
15: 38,226,675 (GRCm39) |
T192A |
unknown |
Het |
Pitpna |
C |
T |
11: 75,483,016 (GRCm39) |
R8W |
probably damaging |
Het |
Pkn1 |
A |
G |
8: 84,396,799 (GRCm39) |
Y951H |
probably benign |
Het |
Rad18 |
T |
C |
6: 112,658,327 (GRCm39) |
T193A |
possibly damaging |
Het |
Ruvbl2 |
G |
T |
7: 45,071,588 (GRCm39) |
L432I |
probably damaging |
Het |
Slco1a4 |
T |
C |
6: 141,758,396 (GRCm39) |
|
probably null |
Het |
Tlr11 |
T |
A |
14: 50,600,178 (GRCm39) |
C721* |
probably null |
Het |
Tubgcp6 |
A |
T |
15: 88,987,285 (GRCm39) |
C1229* |
probably null |
Het |
Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Aplp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01340:Aplp1
|
APN |
7 |
30,143,843 (GRCm39) |
missense |
probably damaging |
0.97 |
R0021:Aplp1
|
UTSW |
7 |
30,135,241 (GRCm39) |
splice site |
probably benign |
|
R0021:Aplp1
|
UTSW |
7 |
30,135,241 (GRCm39) |
splice site |
probably benign |
|
R0034:Aplp1
|
UTSW |
7 |
30,143,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R1480:Aplp1
|
UTSW |
7 |
30,135,448 (GRCm39) |
missense |
probably benign |
0.01 |
R1538:Aplp1
|
UTSW |
7 |
30,135,452 (GRCm39) |
missense |
probably benign |
|
R2177:Aplp1
|
UTSW |
7 |
30,141,946 (GRCm39) |
nonsense |
probably null |
|
R5143:Aplp1
|
UTSW |
7 |
30,140,548 (GRCm39) |
missense |
probably damaging |
1.00 |
R5465:Aplp1
|
UTSW |
7 |
30,136,277 (GRCm39) |
missense |
probably benign |
|
R5482:Aplp1
|
UTSW |
7 |
30,139,600 (GRCm39) |
missense |
probably damaging |
1.00 |
R5530:Aplp1
|
UTSW |
7 |
30,136,254 (GRCm39) |
missense |
possibly damaging |
0.70 |
R6112:Aplp1
|
UTSW |
7 |
30,134,902 (GRCm39) |
missense |
probably damaging |
1.00 |
R6721:Aplp1
|
UTSW |
7 |
30,139,720 (GRCm39) |
missense |
probably null |
1.00 |
R6931:Aplp1
|
UTSW |
7 |
30,142,625 (GRCm39) |
missense |
probably damaging |
1.00 |
R7314:Aplp1
|
UTSW |
7 |
30,135,414 (GRCm39) |
missense |
probably damaging |
0.98 |
R7707:Aplp1
|
UTSW |
7 |
30,142,523 (GRCm39) |
missense |
probably damaging |
1.00 |
R7980:Aplp1
|
UTSW |
7 |
30,134,992 (GRCm39) |
missense |
probably benign |
0.44 |
R8005:Aplp1
|
UTSW |
7 |
30,135,470 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8126:Aplp1
|
UTSW |
7 |
30,141,164 (GRCm39) |
missense |
probably damaging |
1.00 |
R9159:Aplp1
|
UTSW |
7 |
30,141,775 (GRCm39) |
missense |
probably benign |
0.26 |
Z1177:Aplp1
|
UTSW |
7 |
30,137,704 (GRCm39) |
critical splice acceptor site |
probably null |
|
Z1177:Aplp1
|
UTSW |
7 |
30,137,614 (GRCm39) |
missense |
probably benign |
0.44 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTGGATATCTGACGAGTGG -3'
(R):5'- GGTCATCAAATCCCTCTGAACC -3'
Sequencing Primer
(F):5'- TCGGGGCGGATGCATTC -3'
(R):5'- TCTGAACCCTAAACCACGAAGGG -3'
|
Posted On |
2015-01-11 |