Incidental Mutation 'IGL01805:Psen2'
ID155663
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psen2
Ensembl Gene ENSMUSG00000010609
Gene Namepresenilin 2
SynonymsAd4h, PS-2, PS2, ALG-3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01805
Quality Score
Status
Chromosome1
Chromosomal Location180227004-180263438 bp(-) (GRCm38)
Type of Mutationsplice site (4 bp from exon)
DNA Base Change (assembly) T to C at 180229838 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000106737 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010753] [ENSMUST00000111104] [ENSMUST00000111105] [ENSMUST00000111106] [ENSMUST00000111108] [ENSMUST00000111108]
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: 52,925,518 D17G possibly damaging Het
Adam28 G T 14: 68,642,091 S169R probably benign Het
Aox1 T C 1: 58,081,513 M855T possibly damaging Het
Apc C A 18: 34,318,218 N2688K probably benign Het
Arhgap23 T A 11: 97,492,602 probably benign Het
Bpifa6 A G 2: 153,984,912 T66A probably benign Het
C1qtnf1 T A 11: 118,448,167 L221Q probably damaging Het
Ccdc175 T A 12: 72,129,229 probably benign Het
Ccl1 C A 11: 82,178,132 M26I possibly damaging Het
D17Wsu92e C T 17: 27,767,906 probably benign Het
Dnah10 T A 5: 124,783,921 F2123I probably damaging Het
Dpcr1 T A 17: 35,637,643 T355S possibly damaging Het
Fancm T C 12: 65,113,861 probably null Het
Fstl4 C A 11: 53,186,357 A647E probably damaging Het
Hmgb4 G T 4: 128,260,222 probably benign Het
Hr A T 14: 70,565,297 probably benign Het
Kcna4 G T 2: 107,296,498 V526L probably damaging Het
Mas1 T C 17: 12,842,230 Y102C probably damaging Het
Mul1 C T 4: 138,439,663 P343S possibly damaging Het
Obscn T C 11: 59,132,596 S652G probably damaging Het
Olfr972 T C 9: 39,873,779 F168S probably damaging Het
Pjvk A T 2: 76,657,514 N250I probably benign Het
Pkd2 T C 5: 104,483,093 I461T probably benign Het
Ralb T C 1: 119,475,995 E81G probably benign Het
Slc15a4 T C 5: 127,608,836 T261A possibly damaging Het
Vmn2r77 G A 7: 86,811,187 V574M probably benign Het
Xrn2 A G 2: 147,028,143 I251V probably damaging Het
Zfp974 G A 7: 27,912,264 probably benign Het
Other mutations in Psen2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01403:Psen2 APN 1 180234983 splice site probably benign
IGL02126:Psen2 APN 1 180229923 missense probably benign 0.25
IGL02481:Psen2 APN 1 180235061 missense probably damaging 0.97
IGL02483:Psen2 APN 1 180235061 missense probably damaging 0.97
IGL02524:Psen2 APN 1 180245667 missense probably benign 0.00
IGL02864:Psen2 APN 1 180245703 missense probably benign 0.05
IGL03139:Psen2 APN 1 180240785 missense probably damaging 1.00
IGL03237:Psen2 APN 1 180240849 missense possibly damaging 0.67
R0110:Psen2 UTSW 1 180238914 missense probably damaging 1.00
R0365:Psen2 UTSW 1 180228845 missense probably damaging 0.99
R0469:Psen2 UTSW 1 180238914 missense probably damaging 1.00
R1495:Psen2 UTSW 1 180228854 missense probably damaging 1.00
R1621:Psen2 UTSW 1 180229465 missense probably benign
R2151:Psen2 UTSW 1 180233664 missense probably damaging 1.00
R4394:Psen2 UTSW 1 180240782 missense probably damaging 1.00
R4702:Psen2 UTSW 1 180227724 missense probably damaging 1.00
R4847:Psen2 UTSW 1 180245632 splice site probably null
R5070:Psen2 UTSW 1 180228857 missense probably benign
R5735:Psen2 UTSW 1 180240926 missense probably benign 0.00
R6001:Psen2 UTSW 1 180245669 missense possibly damaging 0.52
R6041:Psen2 UTSW 1 180245727 nonsense probably null
R7033:Psen2 UTSW 1 180227520 splice site probably null
R7291:Psen2 UTSW 1 180238956 missense probably benign 0.23
R8103:Psen2 UTSW 1 180240791 missense probably damaging 1.00
R8213:Psen2 UTSW 1 180245691 missense probably benign 0.00
R8766:Psen2 UTSW 1 180245636 missense probably benign 0.01
R8916:Psen2 UTSW 1 180235930 missense not run
Posted On2014-02-04