Incidental Mutation 'R4702:Psen2'
ID 356090
Institutional Source Beutler Lab
Gene Symbol Psen2
Ensembl Gene ENSMUSG00000010609
Gene Name presenilin 2
Synonyms Ad4h, PS-2, ALG-3, PS2
MMRRC Submission 041950-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4702 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 180054569-180091003 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 180055289 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 399 (L399S)
Ref Sequence ENSEMBL: ENSMUSP00000106737 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010753] [ENSMUST00000111104] [ENSMUST00000111105] [ENSMUST00000111106] [ENSMUST00000111108]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000010753
AA Change: L399S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000010753
Gene: ENSMUSG00000010609
AA Change: L399S

DomainStartEndE-ValueType
Blast:PSN 81 119 8e-15 BLAST
PSN 136 434 1.81e-138 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111104
AA Change: L398S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106733
Gene: ENSMUSG00000010609
AA Change: L398S

DomainStartEndE-ValueType
Blast:PSN 81 119 8e-15 BLAST
PSN 136 433 3.63e-138 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111105
AA Change: L399S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106734
Gene: ENSMUSG00000010609
AA Change: L399S

DomainStartEndE-ValueType
Blast:PSN 81 119 8e-15 BLAST
PSN 136 434 1.81e-138 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111106
AA Change: L399S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106735
Gene: ENSMUSG00000010609
AA Change: L399S

DomainStartEndE-ValueType
Blast:PSN 81 119 8e-15 BLAST
PSN 136 434 1.81e-138 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111108
AA Change: L399S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106737
Gene: ENSMUSG00000010609
AA Change: L399S

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: ENSMUST00000193897
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130711
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136291
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149590
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.1%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,314,509 (GRCm39) T390A probably benign Het
Adam25 G T 8: 41,207,163 (GRCm39) C143F probably damaging Het
Adra1a T C 14: 66,875,008 (GRCm39) probably benign Het
Aff1 T C 5: 103,958,935 (GRCm39) Y343H probably damaging Het
Antxr2 C T 5: 98,097,028 (GRCm39) probably null Het
Ap1m2 A G 9: 21,209,591 (GRCm39) F362L probably benign Het
Apobec4 A G 1: 152,632,001 (GRCm39) T10A probably benign Het
Armc3 A G 2: 19,314,792 (GRCm39) N822S probably damaging Het
Atr A C 9: 95,802,408 (GRCm39) T1767P possibly damaging Het
B4galnt1 G T 10: 127,003,394 (GRCm39) V172F possibly damaging Het
Bloc1s1 T A 10: 128,759,267 (GRCm39) Q13L probably damaging Het
Blvra A C 2: 126,933,982 (GRCm39) I125L probably benign Het
Caps2 T C 10: 112,044,252 (GRCm39) F484L probably damaging Het
Cep76 A T 18: 67,767,968 (GRCm39) I188K possibly damaging Het
Cidea T A 18: 67,500,498 (GRCm39) F187I probably benign Het
Cntn3 T A 6: 102,142,292 (GRCm39) N1025I probably benign Het
Cntnap3 A T 13: 64,926,676 (GRCm39) C565S probably benign Het
Cyp2d22 A C 15: 82,260,118 (GRCm39) L22R probably damaging Het
Cyp2d26 C T 15: 82,676,648 (GRCm39) probably benign Het
Cyp2j12 A T 4: 96,021,230 (GRCm39) probably null Het
Dnajb13 T C 7: 100,153,748 (GRCm39) N229S probably benign Het
Dpys A G 15: 39,656,798 (GRCm39) V423A possibly damaging Het
Eif4e1b A T 13: 54,935,138 (GRCm39) I222F probably damaging Het
Eif5b A T 1: 38,057,958 (GRCm39) N87Y unknown Het
Enam T A 5: 88,651,650 (GRCm39) L1053* probably null Het
Epha7 T A 4: 28,961,425 (GRCm39) L890Q probably damaging Het
Fancm T A 12: 65,168,826 (GRCm39) S1730T possibly damaging Het
Flrt3 A G 2: 140,503,575 (GRCm39) F18L probably benign Het
Git2 A G 5: 114,883,543 (GRCm39) S396P probably damaging Het
H2-M10.4 A G 17: 36,772,874 (GRCm39) I36T probably benign Het
Igfn1 G A 1: 135,894,947 (GRCm39) S1873L possibly damaging Het
Ints12 A T 3: 132,802,546 (GRCm39) D10V probably damaging Het
Kbtbd2 A G 6: 56,756,288 (GRCm39) S483P probably benign Het
Kcnv2 G C 19: 27,300,967 (GRCm39) A273P probably damaging Het
Klc3 T G 7: 19,129,756 (GRCm39) D371A probably damaging Het
Lama3 T A 18: 12,711,086 (GRCm39) L1567* probably null Het
Ldhal6b G T 17: 5,468,582 (GRCm39) H117Q probably damaging Het
Lrriq1 G T 10: 103,051,610 (GRCm39) Q381K possibly damaging Het
Mrps31 T A 8: 22,909,754 (GRCm39) L140Q probably damaging Het
Myo15b A G 11: 115,774,834 (GRCm39) T2119A probably benign Het
Nkx6-2 T C 7: 139,161,456 (GRCm39) D243G probably damaging Het
Or1ab2 T A 8: 72,864,044 (GRCm39) F211L probably damaging Het
Or8b3b A T 9: 38,584,776 (GRCm39) M1K probably null Het
Papln C T 12: 83,828,757 (GRCm39) T821I probably benign Het
Pitpnb T G 5: 111,519,218 (GRCm39) V166G probably benign Het
Pla2g15 T A 8: 106,889,691 (GRCm39) M321K probably benign Het
Plcxd3 C A 15: 4,405,269 (GRCm39) S25R probably benign Het
Ppargc1a T C 5: 51,653,038 (GRCm39) I175V possibly damaging Het
Ppp1r13b T A 12: 111,799,715 (GRCm39) Q687H probably benign Het
Prpf3 A G 3: 95,741,404 (GRCm39) V584A probably damaging Het
Ptchd3 G A 11: 121,727,235 (GRCm39) V370I probably damaging Het
Rasa3 G T 8: 13,620,394 (GRCm39) D758E probably benign Het
Reck T C 4: 43,898,060 (GRCm39) C113R probably damaging Het
Resf1 A G 6: 149,230,901 (GRCm39) T1316A probably benign Het
Ric1 T A 19: 29,575,417 (GRCm39) F1009I possibly damaging Het
Rrp12 T C 19: 41,859,975 (GRCm39) N1035S probably damaging Het
Rtel1 T A 2: 180,993,962 (GRCm39) S849T probably benign Het
Scn10a A T 9: 119,462,857 (GRCm39) Y1060N possibly damaging Het
Selenov A G 7: 27,987,436 (GRCm39) L314P probably damaging Het
Selplg T C 5: 113,957,094 (GRCm39) D404G probably benign Het
Slc7a14 T A 3: 31,284,547 (GRCm39) Y263F probably damaging Het
Slco3a1 A G 7: 73,970,315 (GRCm39) S431P probably damaging Het
Speer3 C G 5: 13,846,394 (GRCm39) A238G possibly damaging Het
Spopl A T 2: 23,405,309 (GRCm39) probably null Het
Stk10 A T 11: 32,505,172 (GRCm39) T69S probably benign Het
Tbxas1 T C 6: 39,060,791 (GRCm39) probably null Het
Tec G A 5: 72,941,074 (GRCm39) P161L possibly damaging Het
Tnip1 A G 11: 54,815,228 (GRCm39) S339P probably benign Het
Tsen34 T A 7: 3,703,632 (GRCm39) V290D probably damaging Het
Tuba1a T A 15: 98,849,563 (GRCm39) I5F possibly damaging Het
Vmn1r31 C A 6: 58,448,953 (GRCm39) *304L probably null Het
Vmn1r63 T C 7: 5,806,516 (GRCm39) R39G possibly damaging Het
Xylt2 A G 11: 94,560,355 (GRCm39) Y307H possibly damaging Het
Zfp65 A G 13: 67,872,341 (GRCm39) M1T probably null Het
Zmym4 T C 4: 126,816,958 (GRCm39) I247V probably benign Het
Other mutations in Psen2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01403:Psen2 APN 1 180,062,548 (GRCm39) splice site probably benign
IGL01805:Psen2 APN 1 180,057,403 (GRCm39) splice site probably null
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
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
Predicted Primers PCR Primer
(F):5'- CTATACACCTGCATCCAGTGACG -3'
(R):5'- TCCACCTAGTAACCAATATGCAGG -3'

Sequencing Primer
(F):5'- TCCAGTGACGCCCCCATAG -3'
(R):5'- CTAGTAACCAATATGCAGGTGTCC -3'
Posted On 2015-10-21