Incidental Mutation 'IGL03237:Psen2'
ID414111
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 #IGL03237
Quality Score
Status
Chromosome1
Chromosomal Location180227004-180263438 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 180240849 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 80 (T80A)
Ref Sequence ENSEMBL: ENSMUSP00000106737 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010753] [ENSMUST00000111104] [ENSMUST00000111105] [ENSMUST00000111106] [ENSMUST00000111108] [ENSMUST00000133340]
Predicted Effect possibly damaging
Transcript: ENSMUST00000010753
AA Change: T80A

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000010753
Gene: ENSMUSG00000010609
AA Change: T80A

DomainStartEndE-ValueType
Blast:PSN 81 119 8e-15 BLAST
PSN 136 434 1.81e-138 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111104
AA Change: T80A

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000106733
Gene: ENSMUSG00000010609
AA Change: T80A

DomainStartEndE-ValueType
Blast:PSN 81 119 8e-15 BLAST
PSN 136 433 3.63e-138 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000111105
AA Change: T80A

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000106734
Gene: ENSMUSG00000010609
AA Change: T80A

DomainStartEndE-ValueType
Blast:PSN 81 119 8e-15 BLAST
PSN 136 434 1.81e-138 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000111106
AA Change: T80A

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000106735
Gene: ENSMUSG00000010609
AA Change: T80A

DomainStartEndE-ValueType
Blast:PSN 81 119 8e-15 BLAST
PSN 136 434 1.81e-138 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000111108
AA Change: T80A

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000106737
Gene: ENSMUSG00000010609
AA Change: T80A

DomainStartEndE-ValueType
Blast:PSN 81 119 8e-15 BLAST
PSN 136 434 1.81e-138 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128223
Predicted Effect probably benign
Transcript: ENSMUST00000133340
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot12 A G 13: 91,781,269 Y405C probably benign Het
Adam19 A G 11: 46,137,556 K672R probably benign Het
Adamts7 C A 9: 90,188,664 P613T probably damaging Het
Adgrl1 G T 8: 83,929,683 probably null Het
Adrb1 A T 19: 56,723,368 N333Y probably damaging Het
AI314180 A T 4: 58,810,668 M1563K probably benign Het
Aqp7 C T 4: 41,034,884 V190M possibly damaging Het
Atg101 T C 15: 101,287,173 F59L probably damaging Het
Capn12 T C 7: 28,890,941 S638P probably damaging Het
Ccm2l T C 2: 153,066,002 probably benign Het
Cdc14a A T 3: 116,404,626 probably benign Het
Cdh7 A T 1: 110,138,307 K770N possibly damaging Het
Col23a1 A C 11: 51,567,919 E294D possibly damaging Het
Cped1 A T 6: 22,233,596 Y679F probably damaging Het
Ctu2 A G 8: 122,479,053 E180G probably benign Het
Cyp11b2 C T 15: 74,851,065 V495I probably benign Het
Efcab1 A G 16: 14,920,788 D161G probably damaging Het
Gabrg3 A T 7: 56,982,712 probably null Het
Hsd17b11 A G 5: 104,003,170 *233Q probably null Het
Klhl41 T C 2: 69,670,558 V121A possibly damaging Het
Kptn A T 7: 16,120,125 D56V probably damaging Het
L3mbtl4 T A 17: 68,777,861 I589N probably damaging Het
Lpl A T 8: 68,894,726 N177Y possibly damaging Het
Manba G A 3: 135,544,751 V380M probably damaging Het
Mecom A T 3: 29,956,499 probably benign Het
Mertk A G 2: 128,790,272 E707G probably damaging Het
Myo5a A T 9: 75,129,994 I160F probably damaging Het
Myo7a A T 7: 98,102,593 I81N probably damaging Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Nipal1 C T 5: 72,666,807 R76C probably damaging Het
Noc3l C T 19: 38,814,681 probably null Het
Nt5e A G 9: 88,355,734 D239G probably damaging Het
Olr1 A C 6: 129,502,154 W34G probably damaging Het
Plekhf1 A T 7: 38,221,375 N256K probably benign Het
Psg27 A G 7: 18,560,492 I330T probably benign Het
Ranbp2 T C 10: 58,492,961 V2894A probably damaging Het
Sgcz A T 8: 37,563,178 D170E probably benign Het
Snrnp200 C T 2: 127,233,313 A1573V probably damaging Het
Steap3 C T 1: 120,243,790 G195D probably damaging Het
Tmem165 T A 5: 76,199,509 Y5* probably null Het
Tnpo1 C T 13: 98,863,840 E340K probably damaging Het
Vmn2r67 A T 7: 85,149,910 C530S probably damaging Het
Wdfy3 T A 5: 101,844,599 D3389V probably damaging Het
Zfp128 A C 7: 12,891,026 E440D probably benign 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
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
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
Posted On2016-08-02