Incidental Mutation 'R5143:Aplp1'
| ID |
396522 |
| 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 # |
R5143 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
30134407-30144960 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 30140548 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 334
(R334C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006828
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006828]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006828
AA Change: R334C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000006828
Gene: ENSMUSG00000006651
AA Change: R334C
| 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: ENSMUST00000208404
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208792
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209054
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
C |
T |
5: 109,887,064 (GRCm39) |
|
probably null |
Het |
| Abcc2 |
T |
C |
19: 43,810,100 (GRCm39) |
I886T |
probably benign |
Het |
| Adrb2 |
T |
C |
18: 62,311,847 (GRCm39) |
Y326C |
probably damaging |
Het |
| AY358078 |
T |
C |
14: 52,040,006 (GRCm39) |
S39P |
unknown |
Het |
| Bpifb2 |
A |
T |
2: 153,720,424 (GRCm39) |
D61V |
probably damaging |
Het |
| Caap1 |
A |
T |
4: 94,389,619 (GRCm39) |
N238K |
probably damaging |
Het |
| Cfap54 |
A |
G |
10: 92,865,020 (GRCm39) |
V726A |
possibly damaging |
Het |
| Chrna7 |
T |
C |
7: 62,755,895 (GRCm39) |
Y217C |
probably damaging |
Het |
| Crocc |
T |
A |
4: 140,768,350 (GRCm39) |
T414S |
probably benign |
Het |
| Cyp2a12 |
A |
G |
7: 26,736,036 (GRCm39) |
I482V |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,158,744 (GRCm39) |
F620I |
possibly damaging |
Het |
| Eogt |
A |
G |
6: 97,102,545 (GRCm39) |
L256P |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,039,397 (GRCm39) |
I2002M |
probably damaging |
Het |
| Foxp1 |
A |
G |
6: 98,922,493 (GRCm39) |
|
probably null |
Het |
| Fut8 |
A |
G |
12: 77,411,983 (GRCm39) |
D111G |
probably benign |
Het |
| Golgb1 |
C |
T |
16: 36,719,051 (GRCm39) |
A319V |
probably benign |
Het |
| Hoxd3 |
C |
T |
2: 74,576,716 (GRCm39) |
R39C |
probably damaging |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Or52b1 |
T |
A |
7: 104,978,731 (GRCm39) |
I223F |
probably damaging |
Het |
| Pate8 |
T |
A |
9: 36,493,200 (GRCm39) |
N41Y |
probably benign |
Het |
| Pcdhb2 |
A |
G |
18: 37,429,785 (GRCm39) |
Y586C |
probably damaging |
Het |
| Plcd1 |
G |
A |
9: 118,903,519 (GRCm39) |
Q442* |
probably null |
Het |
| Plppr5 |
A |
G |
3: 117,419,552 (GRCm39) |
T207A |
probably benign |
Het |
| Pomt1 |
C |
A |
2: 32,144,341 (GRCm39) |
A709E |
probably benign |
Het |
| Prmt8 |
A |
G |
6: 127,709,677 (GRCm39) |
M61T |
probably benign |
Het |
| Ptpn23 |
A |
G |
9: 110,214,506 (GRCm39) |
|
probably benign |
Het |
| Sbf2 |
T |
A |
7: 110,021,747 (GRCm39) |
K493* |
probably null |
Het |
| Semp2l2a |
A |
G |
8: 13,886,844 (GRCm39) |
S416P |
possibly damaging |
Het |
| Tmc2 |
A |
T |
2: 130,076,738 (GRCm39) |
S355C |
probably damaging |
Het |
| Tonsl |
A |
G |
15: 76,520,857 (GRCm39) |
S399P |
possibly damaging |
Het |
| Ttc14 |
T |
C |
3: 33,863,050 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,568,409 (GRCm39) |
S19168P |
probably damaging |
Het |
| Usp17lb |
A |
T |
7: 104,490,685 (GRCm39) |
S80T |
probably damaging |
Het |
| Vmn2r96 |
A |
G |
17: 18,804,120 (GRCm39) |
I457V |
possibly damaging |
Het |
| Wdr64 |
G |
T |
1: 175,553,979 (GRCm39) |
D170Y |
probably damaging |
Het |
| Zbtb42 |
T |
C |
12: 112,645,948 (GRCm39) |
V41A |
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 |
|
|
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'- GCTCCATTCTGAGTAGAGGC -3'
(R):5'- TAGGCACTCTGGTCTATGGC -3'
Sequencing Primer
(F):5'- CTCCATTCTGAGTAGAGGCAGTGC -3'
(R):5'- ATGACTTTGAGACCAGCCTG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation