Incidental Mutation 'IGL02481:Psen2'
ID295210
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 #IGL02481
Quality Score
Status
Chromosome1
Chromosomal Location180227004-180263438 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 180235061 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1b8 G A 6: 34,363,794 A209T probably damaging Het
Ccdc90b G A 7: 92,574,646 V117I probably benign Het
Cdkl2 A T 5: 92,037,271 I87N probably damaging Het
Cfap57 T A 4: 118,581,105 E863V probably damaging Het
Clca2 G A 3: 145,084,940 S457L possibly damaging Het
Crim1 C T 17: 78,350,798 T702I probably damaging Het
Cysltr1 C A X: 106,578,122 V253L probably damaging Het
Dgcr6 G A 16: 18,065,174 A6T possibly damaging Het
Dis3l T C 9: 64,319,080 probably null Het
Dnm3 A G 1: 162,010,902 S826P probably damaging Het
Dspp A G 5: 104,175,648 N219S possibly damaging Het
Dzip3 T C 16: 48,975,551 probably benign Het
Erc2 T A 14: 27,653,071 L82Q probably damaging Het
Ercc6l T C X: 102,144,669 T745A probably benign Het
Gata4 T C 14: 63,200,461 T414A probably benign Het
Gmps A G 3: 64,014,352 D592G probably damaging Het
Grin3a A G 4: 49,702,868 Y873H probably damaging Het
Gsr T C 8: 33,685,541 probably benign Het
Gtf2h1 T C 7: 46,804,993 L133P probably damaging Het
Ifna5 A C 4: 88,836,090 E189A probably benign Het
Irx5 A G 8: 92,360,679 Y413C probably damaging Het
Kcnk3 A G 5: 30,622,383 E259G probably damaging Het
Kcnt2 T C 1: 140,354,561 probably benign Het
Kif19a A G 11: 114,789,153 E772G probably benign Het
Klhdc7a T A 4: 139,965,810 T609S probably benign Het
Krt78 C A 15: 101,948,418 probably benign Het
Lca5 A T 9: 83,423,117 I212N probably damaging Het
Lgr6 T C 1: 135,001,691 probably benign Het
Madd T G 2: 91,178,036 T174P probably damaging Het
Mcm9 A G 10: 53,625,937 I184T probably damaging Het
Mlycd G A 8: 119,410,334 R431H probably damaging Het
Myh10 G A 11: 68,802,168 A1393T probably benign Het
Myof G T 19: 37,937,913 Y1144* probably null Het
Nbeal2 G A 9: 110,625,995 Q2578* probably null Het
Nlrp4f T A 13: 65,194,734 T366S probably benign Het
Nnat T C 2: 157,561,247 F36S possibly damaging Het
Nsd3 C A 8: 25,691,116 P915T probably damaging Het
Olfr117 A G 17: 37,659,472 L287P probably damaging Het
Olfr1335 C T 4: 118,809,499 V122M probably benign Het
Olfr351 A T 2: 36,859,818 C177S probably damaging Het
Olfr370 A C 8: 83,541,386 M81L possibly damaging Het
Olfr723 G A 14: 49,928,707 T279I probably damaging Het
Pkd1l3 A G 8: 109,614,782 N89S unknown Het
Pkd2 T C 5: 104,486,770 F556L probably damaging Het
Rad50 A G 11: 53,680,049 I794T probably benign Het
Ralgps1 G A 2: 33,340,729 T14I probably benign Het
Rnpepl1 C T 1: 92,915,907 P250S probably damaging Het
Slc47a2 A G 11: 61,336,241 V167A possibly damaging Het
Tmem161b T A 13: 84,283,993 V41D probably damaging Het
Vmn2r88 A T 14: 51,414,154 E308D probably benign Het
Wdr61 T C 9: 54,728,261 I19V probably damaging Het
Zfhx4 G A 3: 5,411,843 E3148K probably damaging Het
Other mutations in Psen2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01403:Psen2 APN 1 180234983 splice site probably benign
IGL01805:Psen2 APN 1 180229838 splice site probably null
IGL02126:Psen2 APN 1 180229923 missense probably benign 0.25
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 unclassified 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 utr 3 prime probably null
R7291:Psen2 UTSW 1 180238956 missense probably benign 0.23
Posted On2015-04-16