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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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