Incidental Mutation 'R5465:Aplp1'
| ID |
433207 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aplp1
|
| Ensembl Gene |
ENSMUSG00000006651 |
| Gene Name |
amyloid beta precursor like protein 1 |
| Synonyms |
|
| MMRRC Submission |
043026-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5465 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
30134407-30144960 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30136277 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 500
(D500G)
|
| 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
AA Change: D500G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000006828
Gene: ENSMUSG00000006651
AA Change: D500G
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg7 |
G |
A |
6: 114,629,493 (GRCm39) |
G4R |
probably benign |
Het |
| Atp11b |
G |
A |
3: 35,864,333 (GRCm39) |
V302I |
probably benign |
Het |
| Cacna1b |
C |
T |
2: 24,540,438 (GRCm39) |
|
probably null |
Het |
| Ccna1 |
T |
C |
3: 54,953,065 (GRCm39) |
H234R |
probably benign |
Het |
| Cplx2 |
G |
A |
13: 54,527,352 (GRCm39) |
E79K |
possibly damaging |
Het |
| Dnai4 |
T |
A |
4: 102,906,758 (GRCm39) |
D685V |
probably damaging |
Het |
| Gnb2 |
A |
G |
5: 137,526,775 (GRCm39) |
I380T |
probably damaging |
Het |
| Gpr162 |
A |
T |
6: 124,838,134 (GRCm39) |
V172D |
probably damaging |
Het |
| Gtf2a1 |
A |
C |
12: 91,534,565 (GRCm39) |
F191V |
possibly damaging |
Het |
| Ift172 |
A |
T |
5: 31,418,862 (GRCm39) |
|
probably null |
Het |
| Khdrbs2 |
T |
C |
1: 32,658,255 (GRCm39) |
Y272H |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Map1a |
T |
C |
2: 121,136,506 (GRCm39) |
S2203P |
probably damaging |
Het |
| Map3k1 |
A |
T |
13: 111,892,654 (GRCm39) |
L867Q |
probably benign |
Het |
| Ncapd2 |
A |
T |
6: 125,153,746 (GRCm39) |
F656L |
probably damaging |
Het |
| Or51f5 |
A |
G |
7: 102,424,640 (GRCm39) |
K303R |
probably benign |
Het |
| Or5b109 |
T |
C |
19: 13,212,052 (GRCm39) |
I146T |
probably benign |
Het |
| Or7c70 |
T |
C |
10: 78,682,852 (GRCm39) |
K299R |
probably benign |
Het |
| Pcdhb6 |
A |
T |
18: 37,467,783 (GRCm39) |
I235F |
probably damaging |
Het |
| Pzp |
A |
G |
6: 128,463,924 (GRCm39) |
S1395P |
probably damaging |
Het |
| Ralgapb |
C |
A |
2: 158,290,325 (GRCm39) |
T412N |
possibly damaging |
Het |
| Rtn4r |
A |
T |
16: 17,969,291 (GRCm39) |
M240L |
probably benign |
Het |
| Slit2 |
C |
T |
5: 48,407,254 (GRCm39) |
T895I |
probably damaging |
Het |
| Slx4ip |
T |
G |
2: 136,846,867 (GRCm39) |
L44R |
probably damaging |
Het |
| Sptbn2 |
C |
A |
19: 4,800,133 (GRCm39) |
Q2196K |
probably benign |
Het |
| Tbc1d16 |
G |
A |
11: 119,046,885 (GRCm39) |
S454L |
probably benign |
Het |
| Tet1 |
T |
C |
10: 62,675,556 (GRCm39) |
H840R |
probably benign |
Het |
| Usp47 |
C |
T |
7: 111,658,209 (GRCm39) |
T176M |
probably damaging |
Het |
| Utp6 |
A |
T |
11: 79,839,836 (GRCm39) |
I284N |
probably benign |
Het |
| Vcpip1 |
T |
C |
1: 9,817,372 (GRCm39) |
H337R |
probably benign |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
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 |
|
|
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 |
|
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'- TAGCATGCACAAAGCCCTG -3'
(R):5'- AATCAGTCCCTGCCTAGCTC -3'
Sequencing Primer
(F):5'- TGGGCTCCCAACAGCTTC -3'
(R):5'- TAGCTCCTACTGCAGGTCCAG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation