Incidental Mutation 'IGL02524:Psen2'
| ID |
296989 |
| 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 # |
IGL02524
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
180054569-180091003 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 180073232 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 30
(S30T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120216
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010753]
[ENSMUST00000111104]
[ENSMUST00000111105]
[ENSMUST00000111106]
[ENSMUST00000111108]
[ENSMUST00000133340]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010753
AA Change: S30T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000010753
Gene: ENSMUSG00000010609
AA Change: S30T
| 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
AA Change: S30T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106733
Gene: ENSMUSG00000010609
AA Change: S30T
| 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
AA Change: S30T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106734
Gene: ENSMUSG00000010609
AA Change: S30T
| 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
AA Change: S30T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106735
Gene: ENSMUSG00000010609
AA Change: S30T
| 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
AA Change: S30T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106737
Gene: ENSMUSG00000010609
AA Change: S30T
| 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: ENSMUST00000133340
AA Change: S30T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
G |
11: 109,969,641 (GRCm39) |
|
probably benign |
Het |
| Acvr1 |
T |
C |
2: 58,338,319 (GRCm39) |
|
probably benign |
Het |
| Asap3 |
A |
T |
4: 135,965,927 (GRCm39) |
T453S |
probably damaging |
Het |
| Ccdc110 |
C |
T |
8: 46,394,979 (GRCm39) |
P290L |
probably benign |
Het |
| Ccdc127 |
A |
G |
13: 74,501,016 (GRCm39) |
N11S |
probably damaging |
Het |
| Cd80 |
T |
C |
16: 38,303,045 (GRCm39) |
V164A |
probably benign |
Het |
| Ctnna3 |
T |
C |
10: 64,096,605 (GRCm39) |
I381T |
possibly damaging |
Het |
| Epha7 |
A |
T |
4: 28,821,494 (GRCm39) |
T220S |
possibly damaging |
Het |
| Etnppl |
A |
G |
3: 130,424,320 (GRCm39) |
|
probably benign |
Het |
| Far2 |
T |
A |
6: 148,052,156 (GRCm39) |
L145Q |
probably damaging |
Het |
| Fdxr |
A |
G |
11: 115,162,086 (GRCm39) |
|
probably null |
Het |
| Jmy |
A |
G |
13: 93,609,268 (GRCm39) |
V347A |
probably damaging |
Het |
| Kcns2 |
A |
G |
15: 34,838,981 (GRCm39) |
I115V |
probably benign |
Het |
| Kif2a |
A |
G |
13: 107,100,863 (GRCm39) |
L627S |
possibly damaging |
Het |
| Krtap26-1 |
A |
G |
16: 88,444,367 (GRCm39) |
S85P |
possibly damaging |
Het |
| Ldlr |
C |
A |
9: 21,644,977 (GRCm39) |
D168E |
probably damaging |
Het |
| Lrrc8e |
T |
G |
8: 4,285,392 (GRCm39) |
L539R |
probably damaging |
Het |
| Mmp8 |
A |
G |
9: 7,560,506 (GRCm39) |
E61G |
probably damaging |
Het |
| Msh2 |
T |
C |
17: 87,985,785 (GRCm39) |
F121L |
probably benign |
Het |
| Myh4 |
A |
G |
11: 67,140,066 (GRCm39) |
K638E |
possibly damaging |
Het |
| Ndufaf6 |
A |
G |
4: 11,059,091 (GRCm39) |
F246S |
probably benign |
Het |
| Nynrin |
C |
T |
14: 56,108,931 (GRCm39) |
A1346V |
possibly damaging |
Het |
| Or8k53 |
A |
C |
2: 86,177,686 (GRCm39) |
C141W |
probably damaging |
Het |
| P2rx1 |
C |
T |
11: 72,900,474 (GRCm39) |
P196L |
probably damaging |
Het |
| Pbx3 |
T |
C |
2: 34,260,830 (GRCm39) |
|
probably benign |
Het |
| Rack1 |
T |
C |
11: 48,694,298 (GRCm39) |
V166A |
probably benign |
Het |
| Rpgrip1 |
A |
G |
14: 52,358,511 (GRCm39) |
T206A |
probably benign |
Het |
| Rrp7a |
A |
G |
15: 83,002,379 (GRCm39) |
|
probably benign |
Het |
| Slco1b2 |
C |
T |
6: 141,616,798 (GRCm39) |
T377I |
probably benign |
Het |
| Spmip11 |
G |
A |
15: 98,469,006 (GRCm39) |
|
probably null |
Het |
| Sult2a6 |
A |
T |
7: 13,970,611 (GRCm39) |
S162T |
possibly damaging |
Het |
| Syt2 |
A |
G |
1: 134,669,703 (GRCm39) |
K115E |
probably benign |
Het |
| Tet1 |
A |
G |
10: 62,714,425 (GRCm39) |
S457P |
probably damaging |
Het |
| Trbv3 |
A |
G |
6: 41,025,599 (GRCm39) |
E63G |
possibly damaging |
Het |
| Unc13d |
T |
C |
11: 115,961,145 (GRCm39) |
Y404C |
probably damaging |
Het |
| Usp32 |
G |
A |
11: 84,900,837 (GRCm39) |
R1128* |
probably null |
Het |
| Vps4a |
G |
A |
8: 107,763,383 (GRCm39) |
|
probably benign |
Het |
| Ythdc2 |
T |
A |
18: 44,980,921 (GRCm39) |
H505Q |
probably damaging |
Het |
| Ywhab |
T |
A |
2: 163,858,057 (GRCm39) |
L208Q |
probably damaging |
Het |
| Zfyve16 |
T |
C |
13: 92,641,022 (GRCm39) |
K1241E |
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 |
|
IGL02483:Psen2
|
APN |
1 |
180,062,626 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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