Incidental Mutation 'R5170:Psen1'
ID |
397520 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Psen1
|
Ensembl Gene |
ENSMUSG00000019969 |
Gene Name |
presenilin 1 |
Synonyms |
PS1, presenilin-1, Ad3h, S182, PS-1 |
MMRRC Submission |
042750-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5170 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
83734926-83781869 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 83761636 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 146
(M146K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098786
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041806]
[ENSMUST00000101225]
|
AlphaFold |
P49769 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041806
AA Change: M146K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000048363 Gene: ENSMUSG00000019969 AA Change: M146K
Domain | Start | End | E-Value | Type |
low complexity region
|
61 |
72 |
N/A |
INTRINSIC |
Blast:PSN
|
75 |
113 |
1e-12 |
BLAST |
PSN
|
130 |
453 |
2.03e-150 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000101225
AA Change: M146K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000098786 Gene: ENSMUSG00000019969 AA Change: M146K
Domain | Start | End | E-Value | Type |
low complexity region
|
61 |
72 |
N/A |
INTRINSIC |
Blast:PSN
|
75 |
113 |
1e-12 |
BLAST |
PSN
|
130 |
453 |
2.03e-150 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221993
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223542
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease enzymes. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined. [provided by RefSeq, Aug 2008] PHENOTYPE: Homozygotes for targeted null mutations exhibit deformed axial skeletons, reduced Notch signaling, impaired brain growth with a deficiency of neural stem cells, cerebral hemorrhages, inhibited cleavage of amyloid precursor protein, and perinatal death. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acox3 |
A |
G |
5: 35,745,969 (GRCm39) |
I51V |
probably benign |
Het |
Agbl2 |
A |
G |
2: 90,633,541 (GRCm39) |
K559R |
probably benign |
Het |
Arhgap30 |
A |
G |
1: 171,235,618 (GRCm39) |
D664G |
probably benign |
Het |
BC034090 |
A |
G |
1: 155,089,396 (GRCm39) |
V798A |
probably damaging |
Het |
Bdp1 |
A |
T |
13: 100,167,302 (GRCm39) |
C2237* |
probably null |
Het |
C3 |
C |
T |
17: 57,530,938 (GRCm39) |
V388M |
probably damaging |
Het |
Ccdc170 |
G |
A |
10: 4,464,200 (GRCm39) |
E60K |
probably damaging |
Het |
Cdh8 |
G |
A |
8: 100,006,182 (GRCm39) |
T135M |
probably damaging |
Het |
Cep131 |
G |
T |
11: 119,961,435 (GRCm39) |
A572E |
probably damaging |
Het |
Clec16a |
A |
G |
16: 10,559,655 (GRCm39) |
Y976C |
probably benign |
Het |
Cplx3 |
G |
A |
9: 57,522,902 (GRCm39) |
R153* |
probably null |
Het |
Defa41 |
A |
T |
8: 21,691,696 (GRCm39) |
D26V |
probably damaging |
Het |
Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
Eno3 |
A |
G |
11: 70,553,040 (GRCm39) |
I393V |
probably benign |
Het |
Fbxo47 |
A |
G |
11: 97,748,520 (GRCm39) |
V305A |
probably benign |
Het |
Fry |
G |
A |
5: 150,353,319 (GRCm39) |
V1779M |
probably benign |
Het |
Gtse1 |
T |
C |
15: 85,748,465 (GRCm39) |
|
probably null |
Het |
Gucy2e |
A |
T |
11: 69,126,396 (GRCm39) |
L328Q |
probably damaging |
Het |
Ifi207 |
T |
C |
1: 173,558,064 (GRCm39) |
T225A |
unknown |
Het |
Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
Lamc3 |
A |
T |
2: 31,777,356 (GRCm39) |
M1L |
probably benign |
Het |
Myo16 |
A |
G |
8: 10,619,745 (GRCm39) |
D1432G |
probably benign |
Het |
Nwd2 |
A |
T |
5: 63,963,380 (GRCm39) |
N988I |
probably damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Parp14 |
T |
C |
16: 35,677,649 (GRCm39) |
E773G |
probably benign |
Het |
Ptx4 |
G |
A |
17: 25,342,152 (GRCm39) |
R209Q |
probably benign |
Het |
Slc13a2 |
T |
C |
11: 78,291,634 (GRCm39) |
T340A |
probably damaging |
Het |
St8sia1 |
T |
C |
6: 142,909,434 (GRCm39) |
K21E |
probably damaging |
Het |
Stxbp1 |
T |
C |
2: 32,684,686 (GRCm39) |
D581G |
probably benign |
Het |
Sumo2 |
G |
A |
11: 115,425,486 (GRCm39) |
|
probably benign |
Het |
Supt5 |
G |
A |
7: 28,015,508 (GRCm39) |
P910S |
probably benign |
Het |
Tbc1d30 |
T |
C |
10: 121,142,743 (GRCm39) |
Q158R |
possibly damaging |
Het |
Tenm2 |
T |
A |
11: 35,915,633 (GRCm39) |
H1968L |
probably damaging |
Het |
Trmt1 |
T |
C |
8: 85,421,861 (GRCm39) |
Y220H |
probably damaging |
Het |
Trp73 |
C |
T |
4: 154,189,295 (GRCm39) |
E60K |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,617,413 (GRCm39) |
Y8026H |
probably damaging |
Het |
Zar1l |
A |
G |
5: 150,441,050 (GRCm39) |
|
probably null |
Het |
Zfp740 |
T |
C |
15: 102,117,640 (GRCm39) |
Y117H |
probably damaging |
Het |
Zfp941 |
G |
A |
7: 140,392,870 (GRCm39) |
|
probably benign |
Het |
Zp1 |
C |
A |
19: 10,897,918 (GRCm39) |
V8F |
possibly damaging |
Het |
|
Other mutations in Psen1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00580:Psen1
|
APN |
12 |
83,777,343 (GRCm39) |
missense |
probably benign |
0.01 |
IGL00793:Psen1
|
APN |
12 |
83,769,792 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03171:Psen1
|
APN |
12 |
83,761,638 (GRCm39) |
missense |
probably damaging |
1.00 |
hiortron
|
UTSW |
12 |
83,771,439 (GRCm39) |
missense |
probably damaging |
1.00 |
R0685:Psen1
|
UTSW |
12 |
83,761,594 (GRCm39) |
nonsense |
probably null |
|
R1394:Psen1
|
UTSW |
12 |
83,771,346 (GRCm39) |
missense |
probably damaging |
1.00 |
R1395:Psen1
|
UTSW |
12 |
83,771,346 (GRCm39) |
missense |
probably damaging |
1.00 |
R1681:Psen1
|
UTSW |
12 |
83,771,394 (GRCm39) |
missense |
probably damaging |
1.00 |
R2257:Psen1
|
UTSW |
12 |
83,761,594 (GRCm39) |
missense |
probably damaging |
1.00 |
R4833:Psen1
|
UTSW |
12 |
83,778,552 (GRCm39) |
missense |
probably benign |
0.23 |
R5077:Psen1
|
UTSW |
12 |
83,771,439 (GRCm39) |
missense |
probably damaging |
1.00 |
R5782:Psen1
|
UTSW |
12 |
83,759,233 (GRCm39) |
missense |
possibly damaging |
0.54 |
R5804:Psen1
|
UTSW |
12 |
83,778,474 (GRCm39) |
missense |
probably damaging |
1.00 |
R7458:Psen1
|
UTSW |
12 |
83,761,540 (GRCm39) |
missense |
probably damaging |
1.00 |
R7494:Psen1
|
UTSW |
12 |
83,775,017 (GRCm39) |
missense |
probably benign |
0.19 |
R7797:Psen1
|
UTSW |
12 |
83,746,396 (GRCm39) |
missense |
probably benign |
0.02 |
R8547:Psen1
|
UTSW |
12 |
83,761,630 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9286:Psen1
|
UTSW |
12 |
83,775,549 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCAGACCTCACAGTGAATTACAG -3'
(R):5'- TCTTTGCTAGACCAAGTCAAGAC -3'
Sequencing Primer
(F):5'- GTGAATTACAGTTTTAAGAGTGTGC -3'
(R):5'- GCTCAGAACGTGACGCTTAC -3'
|
Posted On |
2016-07-06 |