Incidental Mutation 'IGL02483:Psen2'
| ID |
295317 |
| 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 # |
IGL02483
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
180054569-180091003 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 180062626 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 239
(M239L)
|
| 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 damaging
Transcript: ENSMUST00000010753
AA Change: M239L
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000010753
Gene: ENSMUSG00000010609
AA Change: M239L
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PSN
|
81 |
119 |
8e-15 |
BLAST |
|
PSN
|
136 |
434 |
1.81e-138 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111104
AA Change: M239L
PolyPhen 2
Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000106733
Gene: ENSMUSG00000010609
AA Change: M239L
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PSN
|
81 |
119 |
8e-15 |
BLAST |
|
PSN
|
136 |
433 |
3.63e-138 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111105
AA Change: M239L
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106734
Gene: ENSMUSG00000010609
AA Change: M239L
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PSN
|
81 |
119 |
8e-15 |
BLAST |
|
PSN
|
136 |
434 |
1.81e-138 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111106
AA Change: M239L
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106735
Gene: ENSMUSG00000010609
AA Change: M239L
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PSN
|
81 |
119 |
8e-15 |
BLAST |
|
PSN
|
136 |
434 |
1.81e-138 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111108
AA Change: M239L
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106737
Gene: ENSMUSG00000010609
AA Change: M239L
| 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: ENSMUST00000130711
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136291
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149590
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre5 |
T |
G |
8: 84,451,882 (GRCm39) |
I512L |
probably damaging |
Het |
| Ahnak |
C |
A |
19: 8,980,672 (GRCm39) |
T652N |
probably benign |
Het |
| Akr1b8 |
G |
A |
6: 34,340,729 (GRCm39) |
A209T |
probably damaging |
Het |
| Arnt2 |
T |
A |
7: 83,900,605 (GRCm39) |
H659L |
probably damaging |
Het |
| Cad |
A |
G |
5: 31,218,170 (GRCm39) |
|
probably null |
Het |
| Car6 |
T |
A |
4: 150,280,586 (GRCm39) |
N86I |
probably damaging |
Het |
| Cfap57 |
T |
A |
4: 118,438,302 (GRCm39) |
E863V |
probably damaging |
Het |
| Cyp2c39 |
T |
A |
19: 39,525,231 (GRCm39) |
I178N |
probably damaging |
Het |
| Cysltr1 |
C |
A |
X: 105,621,728 (GRCm39) |
V253L |
probably damaging |
Het |
| Dgcr6 |
G |
A |
16: 17,883,038 (GRCm39) |
A6T |
possibly damaging |
Het |
| Dis3l |
T |
C |
9: 64,226,362 (GRCm39) |
|
probably null |
Het |
| Erc2 |
T |
A |
14: 27,375,028 (GRCm39) |
L82Q |
probably damaging |
Het |
| Ercc6l |
T |
C |
X: 101,188,275 (GRCm39) |
T745A |
probably benign |
Het |
| Fmo4 |
A |
G |
1: 162,635,990 (GRCm39) |
V54A |
possibly damaging |
Het |
| Foxd3 |
C |
T |
4: 99,545,265 (GRCm39) |
S135F |
probably damaging |
Het |
| Fut7 |
T |
A |
2: 25,313,888 (GRCm39) |
F21Y |
possibly damaging |
Het |
| Gata4 |
T |
C |
14: 63,437,910 (GRCm39) |
T414A |
probably benign |
Het |
| Gm4950 |
A |
T |
18: 51,998,406 (GRCm39) |
M183K |
probably damaging |
Het |
| Gmps |
A |
G |
3: 63,921,773 (GRCm39) |
D592G |
probably damaging |
Het |
| Hpd |
A |
T |
5: 123,320,641 (GRCm39) |
|
probably null |
Het |
| Imp4 |
T |
C |
1: 34,483,356 (GRCm39) |
|
probably null |
Het |
| Itgbl1 |
A |
T |
14: 124,065,155 (GRCm39) |
|
probably benign |
Het |
| Kcnt2 |
T |
C |
1: 140,282,299 (GRCm39) |
|
probably benign |
Het |
| Kdr |
C |
T |
5: 76,096,954 (GRCm39) |
|
probably null |
Het |
| Lca5 |
A |
T |
9: 83,305,170 (GRCm39) |
I212N |
probably damaging |
Het |
| Lgr6 |
T |
C |
1: 134,929,429 (GRCm39) |
|
probably benign |
Het |
| Lrrc28 |
T |
C |
7: 67,267,731 (GRCm39) |
|
probably benign |
Het |
| Madd |
T |
G |
2: 91,008,381 (GRCm39) |
T174P |
probably damaging |
Het |
| Map3k8 |
A |
G |
18: 4,349,318 (GRCm39) |
|
probably benign |
Het |
| Mcm3 |
A |
G |
1: 20,873,796 (GRCm39) |
S775P |
possibly damaging |
Het |
| Myh10 |
G |
A |
11: 68,692,994 (GRCm39) |
A1393T |
probably benign |
Het |
| Nbas |
C |
T |
12: 13,374,295 (GRCm39) |
A541V |
probably damaging |
Het |
| Nbeal2 |
G |
A |
9: 110,455,063 (GRCm39) |
Q2578* |
probably null |
Het |
| Nlrp4f |
T |
A |
13: 65,342,548 (GRCm39) |
T366S |
probably benign |
Het |
| Oma1 |
C |
T |
4: 103,182,309 (GRCm39) |
R271* |
probably null |
Het |
| Or10ak12 |
C |
T |
4: 118,666,696 (GRCm39) |
V122M |
probably benign |
Het |
| Or2g25 |
A |
G |
17: 37,970,363 (GRCm39) |
L287P |
probably damaging |
Het |
| Or4c111 |
G |
T |
2: 88,843,547 (GRCm39) |
T287N |
probably damaging |
Het |
| Plekhh2 |
T |
C |
17: 84,903,688 (GRCm39) |
F1058S |
possibly damaging |
Het |
| Psme3ip1 |
A |
G |
8: 95,315,394 (GRCm39) |
|
probably benign |
Het |
| Rad50 |
A |
G |
11: 53,570,876 (GRCm39) |
I794T |
probably benign |
Het |
| Rgs12 |
A |
G |
5: 35,187,861 (GRCm39) |
E506G |
probably damaging |
Het |
| Rnpepl1 |
C |
T |
1: 92,843,629 (GRCm39) |
P250S |
probably damaging |
Het |
| Sfr1 |
G |
A |
19: 47,721,227 (GRCm39) |
|
probably benign |
Het |
| Skic8 |
T |
C |
9: 54,635,545 (GRCm39) |
I19V |
probably damaging |
Het |
| Tmem184a |
T |
C |
5: 139,798,832 (GRCm39) |
E39G |
probably benign |
Het |
| Trim66 |
C |
T |
7: 109,076,837 (GRCm39) |
|
probably benign |
Het |
| Ugt2b35 |
A |
G |
5: 87,149,004 (GRCm39) |
Y85C |
possibly damaging |
Het |
| Uts2r |
G |
T |
11: 121,051,213 (GRCm39) |
G26C |
possibly damaging |
Het |
| Vmn2r88 |
A |
T |
14: 51,651,611 (GRCm39) |
E308D |
probably benign |
Het |
|
| Other mutations in Psen2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01403:Psen2
|
APN |
1 |
180,062,548 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation