Incidental Mutation 'R0021:Aplp1'
| ID |
64762 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aplp1
|
| Ensembl Gene |
ENSMUSG00000006651 |
| Gene Name |
amyloid beta precursor like protein 1 |
| Synonyms |
|
| MMRRC Submission |
038316-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0021 (G1)
|
| Quality Score |
209 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
30134407-30144960 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 30135241 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 benign
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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.8%
|
| Validation Efficiency |
97% (60/62) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310016G11Rik |
A |
G |
7: 44,326,620 (GRCm39) |
|
noncoding transcript |
Het |
| Abcc5 |
T |
A |
16: 20,197,411 (GRCm39) |
K647* |
probably null |
Het |
| Arhgef25 |
A |
G |
10: 127,025,423 (GRCm39) |
I43T |
probably benign |
Het |
| Brinp3 |
T |
G |
1: 146,777,189 (GRCm39) |
S545R |
probably benign |
Het |
| Btnl1 |
A |
G |
17: 34,598,468 (GRCm39) |
E28G |
probably benign |
Het |
| C5ar2 |
A |
G |
7: 15,971,601 (GRCm39) |
F109L |
probably benign |
Het |
| D630045J12Rik |
G |
A |
6: 38,160,902 (GRCm39) |
Q1081* |
probably null |
Het |
| Dhx36 |
T |
C |
3: 62,385,016 (GRCm39) |
I699V |
possibly damaging |
Het |
| Dnah9 |
A |
G |
11: 65,860,805 (GRCm39) |
I2855T |
probably benign |
Het |
| Dock8 |
T |
C |
19: 25,140,411 (GRCm39) |
I1317T |
probably benign |
Het |
| Galnt11 |
A |
T |
5: 25,453,855 (GRCm39) |
D27V |
probably damaging |
Het |
| Gm5134 |
T |
A |
10: 75,829,718 (GRCm39) |
C335S |
probably damaging |
Het |
| Hdhd2 |
A |
T |
18: 77,058,311 (GRCm39) |
K227N |
probably damaging |
Het |
| Impg1 |
A |
T |
9: 80,317,479 (GRCm39) |
L36Q |
probably damaging |
Het |
| Krtcap3 |
A |
G |
5: 31,410,303 (GRCm39) |
H227R |
probably benign |
Het |
| Lrrc7 |
A |
G |
3: 157,866,298 (GRCm39) |
Y1148H |
probably damaging |
Het |
| Map2k4 |
A |
G |
11: 65,603,110 (GRCm39) |
I174T |
probably damaging |
Het |
| Mef2c |
C |
A |
13: 83,804,359 (GRCm39) |
L282M |
probably damaging |
Het |
| Nkapd1 |
A |
C |
9: 50,521,725 (GRCm39) |
D65E |
probably damaging |
Het |
| Nqo2 |
T |
C |
13: 34,165,490 (GRCm39) |
I129T |
probably benign |
Het |
| Pdgfrb |
T |
A |
18: 61,197,998 (GRCm39) |
|
probably benign |
Het |
| Phf7 |
C |
T |
14: 30,960,443 (GRCm39) |
|
probably benign |
Het |
| Plac8 |
T |
A |
5: 100,704,434 (GRCm39) |
T88S |
probably benign |
Het |
| Pou2f1 |
G |
A |
1: 165,703,587 (GRCm39) |
T654M |
probably damaging |
Het |
| Ptprk |
T |
A |
10: 28,468,891 (GRCm39) |
V1425E |
probably damaging |
Het |
| Saal1 |
A |
T |
7: 46,342,316 (GRCm39) |
S376T |
probably damaging |
Het |
| Scart2 |
G |
A |
7: 139,876,310 (GRCm39) |
R594H |
probably benign |
Het |
| Serpini1 |
T |
C |
3: 75,526,620 (GRCm39) |
Y291H |
probably damaging |
Het |
| Siah2 |
T |
C |
3: 58,583,713 (GRCm39) |
H191R |
probably benign |
Het |
| Spaca6 |
T |
A |
17: 18,058,498 (GRCm39) |
Y39* |
probably null |
Het |
| Tbc1d10a |
T |
C |
11: 4,163,680 (GRCm39) |
C277R |
probably damaging |
Het |
| Trim45 |
A |
T |
3: 100,832,736 (GRCm39) |
D323V |
probably damaging |
Het |
| Trim55 |
A |
C |
3: 19,698,866 (GRCm39) |
M32L |
probably benign |
Het |
| Unc5b |
T |
C |
10: 60,614,698 (GRCm39) |
T200A |
probably benign |
Het |
| Uqcc4 |
A |
G |
17: 25,403,957 (GRCm39) |
E99G |
possibly damaging |
Het |
| V1rd19 |
A |
T |
7: 23,703,029 (GRCm39) |
D165V |
probably damaging |
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 |
|
|
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 |
|
|
R3017:Aplp1
|
UTSW |
7 |
30,135,396 (GRCm39) |
critical splice donor site |
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'- CATAGCCATGCCTCTGAAGTTCCC -3'
(R):5'- TCCACTGGAGCAGTATGAGCAAAAG -3'
Sequencing Primer
(F):5'- CATGGCTGATAGTCCCATAGG -3'
(R):5'- CAGTATGAGCAAAAGGTAAGTGAGTG -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation