Incidental Mutation 'IGL01403:Psen2'
| ID |
79729 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Psen2
|
| Ensembl Gene |
ENSMUSG00000010609 |
| Gene Name |
presenilin 2 |
| Synonyms |
Ad4h, PS-2, ALG-3, PS2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01403
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
180054569-180091003 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 180062548 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106737
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010753]
[ENSMUST00000111104]
[ENSMUST00000111105]
[ENSMUST00000111106]
[ENSMUST00000111108]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010753
|
| SMART Domains |
Protein: ENSMUSP00000010753
Gene: ENSMUSG00000010609
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PSN
|
81 |
119 |
8e-15 |
BLAST |
|
PSN
|
136 |
434 |
1.81e-138 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111104
|
| SMART Domains |
Protein: ENSMUSP00000106733
Gene: ENSMUSG00000010609
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PSN
|
81 |
119 |
8e-15 |
BLAST |
|
PSN
|
136 |
433 |
3.63e-138 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111105
|
| SMART Domains |
Protein: ENSMUSP00000106734
Gene: ENSMUSG00000010609
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PSN
|
81 |
119 |
8e-15 |
BLAST |
|
PSN
|
136 |
434 |
1.81e-138 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111106
|
| SMART Domains |
Protein: ENSMUSP00000106735
Gene: ENSMUSG00000010609
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PSN
|
81 |
119 |
8e-15 |
BLAST |
|
PSN
|
136 |
434 |
1.81e-138 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111108
|
| SMART Domains |
Protein: ENSMUSP00000106737
Gene: ENSMUSG00000010609
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PSN
|
81 |
119 |
8e-15 |
BLAST |
|
PSN
|
136 |
434 |
1.81e-138 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128223
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130029
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149590
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130711
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136291
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the presenilin family. Presenilins are catalytic components of the multi-subunit gamma-secretase complex, which mediates critical cellular processes through cleavage of type I transmembrane proteins including Notch receptors and the amyloid precursor protein. The encoded protein contains eight transmembrane domains and is localized to the endoplasmic reticulum, where it may play a role in calcium homeostasis. Following assembly of the gamma-secretase complex, the encoded protein is cleaved into N- and C-terminal fragments and the activated complex is released from the endoplasmic reticulum. Inactivation of this gene results in impaired synaptic function in a mouse model for Alzheimer's disease. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2011]
PHENOTYPE: Homozygotes for targeted null mutations are viable and fertile, but older mutants develop mild pulmonary fibrosis and hemorrhage. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
A |
T |
12: 118,836,602 (GRCm39) |
L1103Q |
probably damaging |
Het |
| Adam12 |
T |
A |
7: 133,521,339 (GRCm39) |
Q605L |
probably benign |
Het |
| Adk |
A |
G |
14: 21,284,983 (GRCm39) |
K102R |
probably damaging |
Het |
| Afdn |
C |
T |
17: 14,124,132 (GRCm39) |
P1761S |
probably damaging |
Het |
| Ascc1 |
A |
G |
10: 59,848,280 (GRCm39) |
|
probably benign |
Het |
| Aspdh |
A |
G |
7: 44,115,983 (GRCm39) |
|
probably null |
Het |
| Bbx |
T |
C |
16: 50,022,876 (GRCm39) |
I753V |
probably benign |
Het |
| Ccdc33 |
T |
C |
9: 58,024,668 (GRCm39) |
Y186C |
probably damaging |
Het |
| Ccdc78 |
T |
A |
17: 26,007,218 (GRCm39) |
|
probably null |
Het |
| Ckmt1 |
T |
C |
2: 121,193,447 (GRCm39) |
|
probably benign |
Het |
| Csf1r |
A |
G |
18: 61,247,897 (GRCm39) |
T322A |
probably benign |
Het |
| Dnah7b |
T |
C |
1: 46,155,460 (GRCm39) |
|
probably benign |
Het |
| Dr1 |
A |
G |
5: 108,417,576 (GRCm39) |
N41D |
possibly damaging |
Het |
| Ehmt1 |
G |
A |
2: 24,729,638 (GRCm39) |
T633I |
possibly damaging |
Het |
| Fgf7 |
T |
A |
2: 125,877,860 (GRCm39) |
Y76N |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,468,848 (GRCm39) |
W5038R |
probably damaging |
Het |
| Ighv14-1 |
A |
G |
12: 113,895,862 (GRCm39) |
V21A |
probably damaging |
Het |
| Igkv5-37 |
T |
A |
6: 69,940,420 (GRCm39) |
I75F |
probably damaging |
Het |
| Inhbc |
T |
A |
10: 127,205,968 (GRCm39) |
I100F |
probably damaging |
Het |
| Irs3 |
A |
G |
5: 137,643,581 (GRCm39) |
F68L |
probably damaging |
Het |
| Itpr3 |
T |
A |
17: 27,337,569 (GRCm39) |
C2460S |
probably damaging |
Het |
| Krt34 |
A |
G |
11: 99,929,116 (GRCm39) |
C365R |
possibly damaging |
Het |
| Krt81 |
G |
A |
15: 101,361,269 (GRCm39) |
H104Y |
probably benign |
Het |
| Ly6g |
A |
G |
15: 75,030,497 (GRCm39) |
N82S |
probably damaging |
Het |
| Mrpl58 |
A |
T |
11: 115,297,404 (GRCm39) |
I72F |
probably damaging |
Het |
| Myo9a |
G |
A |
9: 59,778,846 (GRCm39) |
R1534H |
probably damaging |
Het |
| Npat |
T |
A |
9: 53,466,429 (GRCm39) |
F239L |
probably benign |
Het |
| Nsd2 |
A |
G |
5: 34,042,722 (GRCm39) |
|
probably benign |
Het |
| Nuggc |
T |
C |
14: 65,860,635 (GRCm39) |
V427A |
probably benign |
Het |
| Or52b1 |
G |
A |
7: 104,978,605 (GRCm39) |
R265C |
probably benign |
Het |
| Or5p55 |
A |
G |
7: 107,566,828 (GRCm39) |
T75A |
possibly damaging |
Het |
| Pde4a |
A |
T |
9: 21,116,412 (GRCm39) |
I467F |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,347,229 (GRCm39) |
C198* |
probably null |
Het |
| Pla2r1 |
A |
G |
2: 60,254,632 (GRCm39) |
V1312A |
probably damaging |
Het |
| Pola2 |
T |
C |
19: 6,009,121 (GRCm39) |
H79R |
probably benign |
Het |
| Potefam1 |
T |
C |
2: 111,059,515 (GRCm39) |
|
probably benign |
Het |
| Pramel15 |
A |
T |
4: 144,103,703 (GRCm39) |
M141K |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,334,126 (GRCm39) |
K3112E |
probably damaging |
Het |
| Slc6a4 |
G |
T |
11: 76,922,498 (GRCm39) |
V630L |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,757,355 (GRCm39) |
|
probably benign |
Het |
| Tmc8 |
A |
G |
11: 117,681,900 (GRCm39) |
T510A |
possibly damaging |
Het |
| Usp18 |
T |
A |
6: 121,245,627 (GRCm39) |
H334Q |
possibly damaging |
Het |
| Vmn2r103 |
T |
C |
17: 20,013,229 (GRCm39) |
Y117H |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,709,625 (GRCm39) |
D1857E |
probably benign |
Het |
|
| Other mutations in Psen2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01805:Psen2
|
APN |
1 |
180,057,403 (GRCm39) |
splice site |
probably null |
|
|
IGL02126:Psen2
|
APN |
1 |
180,057,488 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02481:Psen2
|
APN |
1 |
180,062,626 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02483:Psen2
|
APN |
1 |
180,062,626 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02524:Psen2
|
APN |
1 |
180,073,232 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02864:Psen2
|
APN |
1 |
180,073,268 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03139:Psen2
|
APN |
1 |
180,068,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03237:Psen2
|
APN |
1 |
180,068,414 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0110:Psen2
|
UTSW |
1 |
180,066,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0365:Psen2
|
UTSW |
1 |
180,056,410 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0469:Psen2
|
UTSW |
1 |
180,066,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1495:Psen2
|
UTSW |
1 |
180,056,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1621:Psen2
|
UTSW |
1 |
180,057,030 (GRCm39) |
missense |
probably benign |
|
|
R2151:Psen2
|
UTSW |
1 |
180,061,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4394:Psen2
|
UTSW |
1 |
180,068,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4702:Psen2
|
UTSW |
1 |
180,055,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4847:Psen2
|
UTSW |
1 |
180,073,197 (GRCm39) |
splice site |
probably null |
|
|
R5070:Psen2
|
UTSW |
1 |
180,056,422 (GRCm39) |
missense |
probably benign |
|
|
R5735:Psen2
|
UTSW |
1 |
180,068,491 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6001:Psen2
|
UTSW |
1 |
180,073,234 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6041:Psen2
|
UTSW |
1 |
180,073,292 (GRCm39) |
nonsense |
probably null |
|
|
R7033:Psen2
|
UTSW |
1 |
180,055,085 (GRCm39) |
splice site |
probably null |
|
|
R7291:Psen2
|
UTSW |
1 |
180,066,521 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8103:Psen2
|
UTSW |
1 |
180,068,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8213:Psen2
|
UTSW |
1 |
180,073,256 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8766:Psen2
|
UTSW |
1 |
180,073,201 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8916:Psen2
|
UTSW |
1 |
180,063,495 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9027:Psen2
|
UTSW |
1 |
180,056,972 (GRCm39) |
nonsense |
probably null |
|
|
R9794:Psen2
|
UTSW |
1 |
180,068,294 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2013-11-05 |
Incidental Mutation