Incidental Mutation 'IGL01805:Psen2'
ID |
155663 |
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 # |
IGL01805
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
180054569-180091003 bp(-) (GRCm39) |
Type of Mutation |
splice site (4 bp from exon) |
DNA Base Change (assembly) |
T to C
at 180057403 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]
[ENSMUST00000111108]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
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 null
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 null
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 null
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 null
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 |
probably null
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: ENSMUST00000130029
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130711
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136291
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149590
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193897
|
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700019D03Rik |
T |
C |
1: 52,964,677 (GRCm39) |
D17G |
possibly damaging |
Het |
Adam28 |
G |
T |
14: 68,879,540 (GRCm39) |
S169R |
probably benign |
Het |
Aox1 |
T |
C |
1: 58,120,672 (GRCm39) |
M855T |
possibly damaging |
Het |
Apc |
C |
A |
18: 34,451,271 (GRCm39) |
N2688K |
probably benign |
Het |
Arhgap23 |
T |
A |
11: 97,383,428 (GRCm39) |
|
probably benign |
Het |
Bpifa6 |
A |
G |
2: 153,826,832 (GRCm39) |
T66A |
probably benign |
Het |
C1qtnf1 |
T |
A |
11: 118,338,993 (GRCm39) |
L221Q |
probably damaging |
Het |
Ccdc175 |
T |
A |
12: 72,176,003 (GRCm39) |
|
probably benign |
Het |
Ccl1 |
C |
A |
11: 82,068,958 (GRCm39) |
M26I |
possibly damaging |
Het |
Dnah10 |
T |
A |
5: 124,860,985 (GRCm39) |
F2123I |
probably damaging |
Het |
Fancm |
T |
C |
12: 65,160,635 (GRCm39) |
|
probably null |
Het |
Fstl4 |
C |
A |
11: 53,077,184 (GRCm39) |
A647E |
probably damaging |
Het |
Hmgb4 |
G |
T |
4: 128,154,015 (GRCm39) |
|
probably benign |
Het |
Hr |
A |
T |
14: 70,802,737 (GRCm39) |
|
probably benign |
Het |
Ilrun |
C |
T |
17: 27,986,880 (GRCm39) |
|
probably benign |
Het |
Kcna4 |
G |
T |
2: 107,126,843 (GRCm39) |
V526L |
probably damaging |
Het |
Mas1 |
T |
C |
17: 13,061,117 (GRCm39) |
Y102C |
probably damaging |
Het |
Mucl3 |
T |
A |
17: 35,948,535 (GRCm39) |
T355S |
possibly damaging |
Het |
Mul1 |
C |
T |
4: 138,166,974 (GRCm39) |
P343S |
possibly damaging |
Het |
Obscn |
T |
C |
11: 59,023,422 (GRCm39) |
S652G |
probably damaging |
Het |
Or8g55 |
T |
C |
9: 39,785,075 (GRCm39) |
F168S |
probably damaging |
Het |
Pjvk |
A |
T |
2: 76,487,858 (GRCm39) |
N250I |
probably benign |
Het |
Pkd2 |
T |
C |
5: 104,630,959 (GRCm39) |
I461T |
probably benign |
Het |
Ralb |
T |
C |
1: 119,403,725 (GRCm39) |
E81G |
probably benign |
Het |
Slc15a4 |
T |
C |
5: 127,685,900 (GRCm39) |
T261A |
possibly damaging |
Het |
Vmn2r77 |
G |
A |
7: 86,460,395 (GRCm39) |
V574M |
probably benign |
Het |
Xrn2 |
A |
G |
2: 146,870,063 (GRCm39) |
I251V |
probably damaging |
Het |
Zfp974 |
G |
A |
7: 27,611,689 (GRCm39) |
|
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 |
|
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 |
2014-02-04 |