Incidental Mutation 'IGL02481:Psen2'
| ID |
295210 |
| 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 # |
IGL02481
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1b8 |
G |
A |
6: 34,340,729 (GRCm39) |
A209T |
probably damaging |
Het |
| Ccdc90b |
G |
A |
7: 92,223,854 (GRCm39) |
V117I |
probably benign |
Het |
| Cdkl2 |
A |
T |
5: 92,185,130 (GRCm39) |
I87N |
probably damaging |
Het |
| Cfap57 |
T |
A |
4: 118,438,302 (GRCm39) |
E863V |
probably damaging |
Het |
| Clca3a2 |
G |
A |
3: 144,790,701 (GRCm39) |
S457L |
possibly damaging |
Het |
| Crim1 |
C |
T |
17: 78,658,227 (GRCm39) |
T702I |
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 |
| Dnm3 |
A |
G |
1: 161,838,471 (GRCm39) |
S826P |
probably damaging |
Het |
| Dspp |
A |
G |
5: 104,323,514 (GRCm39) |
N219S |
possibly damaging |
Het |
| Dzip3 |
T |
C |
16: 48,795,914 (GRCm39) |
|
probably benign |
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 |
| Gata4 |
T |
C |
14: 63,437,910 (GRCm39) |
T414A |
probably benign |
Het |
| Gmps |
A |
G |
3: 63,921,773 (GRCm39) |
D592G |
probably damaging |
Het |
| Grin3a |
A |
G |
4: 49,702,868 (GRCm39) |
Y873H |
probably damaging |
Het |
| Gsr |
T |
C |
8: 34,175,569 (GRCm39) |
|
probably benign |
Het |
| Gtf2h1 |
T |
C |
7: 46,454,417 (GRCm39) |
L133P |
probably damaging |
Het |
| Ifna5 |
A |
C |
4: 88,754,327 (GRCm39) |
E189A |
probably benign |
Het |
| Irx5 |
A |
G |
8: 93,087,307 (GRCm39) |
Y413C |
probably damaging |
Het |
| Kcnk3 |
A |
G |
5: 30,779,727 (GRCm39) |
E259G |
probably damaging |
Het |
| Kcnt2 |
T |
C |
1: 140,282,299 (GRCm39) |
|
probably benign |
Het |
| Kif19a |
A |
G |
11: 114,679,979 (GRCm39) |
E772G |
probably benign |
Het |
| Klhdc7a |
T |
A |
4: 139,693,121 (GRCm39) |
T609S |
probably benign |
Het |
| Krt78 |
C |
A |
15: 101,856,853 (GRCm39) |
|
probably benign |
Het |
| Lca5 |
A |
T |
9: 83,305,170 (GRCm39) |
I212N |
probably damaging |
Het |
| Lgr6 |
T |
C |
1: 134,929,429 (GRCm39) |
|
probably benign |
Het |
| Madd |
T |
G |
2: 91,008,381 (GRCm39) |
T174P |
probably damaging |
Het |
| Mcm9 |
A |
G |
10: 53,502,033 (GRCm39) |
I184T |
probably damaging |
Het |
| Mlycd |
G |
A |
8: 120,137,073 (GRCm39) |
R431H |
probably damaging |
Het |
| Myh10 |
G |
A |
11: 68,692,994 (GRCm39) |
A1393T |
probably benign |
Het |
| Myof |
G |
T |
19: 37,926,361 (GRCm39) |
Y1144* |
probably null |
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 |
| Nnat |
T |
C |
2: 157,403,167 (GRCm39) |
F36S |
possibly damaging |
Het |
| Nsd3 |
C |
A |
8: 26,181,143 (GRCm39) |
P915T |
probably damaging |
Het |
| Or10ak12 |
C |
T |
4: 118,666,696 (GRCm39) |
V122M |
probably benign |
Het |
| Or10k2 |
A |
C |
8: 84,268,015 (GRCm39) |
M81L |
possibly damaging |
Het |
| Or1n1 |
A |
T |
2: 36,749,830 (GRCm39) |
C177S |
probably damaging |
Het |
| Or2g25 |
A |
G |
17: 37,970,363 (GRCm39) |
L287P |
probably damaging |
Het |
| Or4l1 |
G |
A |
14: 50,166,164 (GRCm39) |
T279I |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,341,414 (GRCm39) |
N89S |
unknown |
Het |
| Pkd2 |
T |
C |
5: 104,634,636 (GRCm39) |
F556L |
probably damaging |
Het |
| Rad50 |
A |
G |
11: 53,570,876 (GRCm39) |
I794T |
probably benign |
Het |
| Ralgps1 |
G |
A |
2: 33,230,741 (GRCm39) |
T14I |
probably benign |
Het |
| Rnpepl1 |
C |
T |
1: 92,843,629 (GRCm39) |
P250S |
probably damaging |
Het |
| Skic8 |
T |
C |
9: 54,635,545 (GRCm39) |
I19V |
probably damaging |
Het |
| Slc47a2 |
A |
G |
11: 61,227,067 (GRCm39) |
V167A |
possibly damaging |
Het |
| Tmem161b |
T |
A |
13: 84,432,112 (GRCm39) |
V41D |
probably damaging |
Het |
| Vmn2r88 |
A |
T |
14: 51,651,611 (GRCm39) |
E308D |
probably benign |
Het |
| Zfhx4 |
G |
A |
3: 5,476,903 (GRCm39) |
E3148K |
probably damaging |
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 |
|
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 |
2015-04-16 |
Incidental Mutation