Incidental Mutation 'R7797:Psen1'
ID 600307
Institutional Source Beutler Lab
Gene Symbol Psen1
Ensembl Gene ENSMUSG00000019969
Gene Name presenilin 1
Synonyms PS1, presenilin-1, Ad3h, S182, PS-1
MMRRC Submission 045853-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7797 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 83734926-83781869 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83746396 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 20 (S20G)
Ref Sequence ENSEMBL: ENSMUSP00000048363 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041806] [ENSMUST00000101225]
AlphaFold P49769
Predicted Effect probably benign
Transcript: ENSMUST00000041806
AA Change: S20G

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000048363
Gene: ENSMUSG00000019969
AA Change: S20G

DomainStartEndE-ValueType
low complexity region 61 72 N/A INTRINSIC
Blast:PSN 75 113 1e-12 BLAST
PSN 130 453 2.03e-150 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000101225
AA Change: S20G

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000098786
Gene: ENSMUSG00000019969
AA Change: S20G

DomainStartEndE-ValueType
low complexity region 61 72 N/A INTRINSIC
Blast:PSN 75 113 1e-12 BLAST
PSN 130 453 2.03e-150 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (68/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease enzymes. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined. [provided by RefSeq, Aug 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit deformed axial skeletons, reduced Notch signaling, impaired brain growth with a deficiency of neural stem cells, cerebral hemorrhages, inhibited cleavage of amyloid precursor protein, and perinatal death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A G 11: 109,862,509 (GRCm39) probably null Het
Adam3 T G 8: 25,184,660 (GRCm39) N535T probably damaging Het
Adam34l T A 8: 44,079,411 (GRCm39) E271V probably benign Het
Adamts4 A G 1: 171,085,387 (GRCm39) K679E probably damaging Het
Arnt G A 3: 95,387,572 (GRCm39) probably null Het
Asah2 A G 19: 31,999,761 (GRCm39) F321L probably damaging Het
Asb15 T C 6: 24,562,505 (GRCm39) S156P probably damaging Het
Baiap2l1 A C 5: 144,255,760 (GRCm39) S65A probably damaging Het
Bend7 T G 2: 4,754,455 (GRCm39) M186R probably damaging Het
Blnk T C 19: 40,948,232 (GRCm39) K146E possibly damaging Het
Cd19 A G 7: 126,012,680 (GRCm39) W238R probably damaging Het
Cd44 T A 2: 102,679,079 (GRCm39) N241I probably benign Het
Cdh23 T C 10: 60,220,973 (GRCm39) E1257G probably benign Het
Cfap300 G T 9: 8,027,130 (GRCm39) P136Q possibly damaging Het
Cntnap5c T C 17: 58,666,270 (GRCm39) V1100A probably benign Het
Cul7 T C 17: 46,969,568 (GRCm39) V945A possibly damaging Het
Dock2 C T 11: 34,232,652 (GRCm39) C1116Y probably damaging Het
Ehbp1 T C 11: 22,046,109 (GRCm39) M547V possibly damaging Het
Fam50b G A 13: 34,931,084 (GRCm39) E187K possibly damaging Het
Grhl3 C G 4: 135,286,416 (GRCm39) K88N possibly damaging Het
Hbb-y T A 7: 103,501,088 (GRCm39) Y146F probably damaging Het
Hivep2 T C 10: 14,005,847 (GRCm39) V815A probably benign Het
Hoxa7 T A 6: 52,192,870 (GRCm39) I173F probably damaging Het
Igkv1-110 T G 6: 68,247,977 (GRCm39) S29A probably benign Het
Jade2 A G 11: 51,708,126 (GRCm39) S696P probably benign Het
Kif1b T A 4: 149,321,844 (GRCm39) Q1025L probably benign Het
Kif2c A T 4: 117,028,940 (GRCm39) C241S probably benign Het
Kmt2d G T 15: 98,762,287 (GRCm39) H400N probably benign Het
Krt35 T A 11: 99,985,713 (GRCm39) N174Y probably damaging Het
Ldlrad1 G A 4: 107,066,688 (GRCm39) A8T probably benign Het
Magi3 A G 3: 103,958,618 (GRCm39) V489A probably damaging Het
Mapk7 T C 11: 61,380,241 (GRCm39) E739G possibly damaging Het
Mcidas G A 13: 113,135,521 (GRCm39) G315S probably damaging Het
Mdga1 C T 17: 30,061,814 (GRCm39) probably null Het
Megf8 G A 7: 25,034,022 (GRCm39) R607H probably damaging Het
Met T A 6: 17,533,952 (GRCm39) N634K probably damaging Het
Miip C T 4: 147,947,375 (GRCm39) G236S probably benign Het
Mmp11 G T 10: 75,759,314 (GRCm39) T107K Het
Mroh2b A C 15: 4,978,587 (GRCm39) N1378H probably benign Het
Naa15 G A 3: 51,356,031 (GRCm39) C322Y probably damaging Het
Naip1 T A 13: 100,580,986 (GRCm39) Y87F probably damaging Het
Ngrn A G 7: 79,914,185 (GRCm39) D112G probably benign Het
Osbpl1a C A 18: 13,015,321 (GRCm39) C369F probably damaging Het
Pcnx2 G C 8: 126,512,087 (GRCm39) D1406E possibly damaging Het
Phf8-ps T C 17: 33,286,664 (GRCm39) D46G probably damaging Het
Pold1 G A 7: 44,191,213 (GRCm39) P206L probably benign Het
Ptpn23 C T 9: 110,222,875 (GRCm39) D61N possibly damaging Het
Rbfox3 A T 11: 118,387,310 (GRCm39) L268Q possibly damaging Het
Rbm22 A G 18: 60,694,344 (GRCm39) T26A probably damaging Het
Rpgrip1 G A 14: 52,371,277 (GRCm39) R332Q possibly damaging Het
Rrm2b A T 15: 37,927,505 (GRCm39) L347* probably null Het
Rsf1 A T 7: 97,310,692 (GRCm39) D474V Het
Ryr2 C T 13: 11,816,066 (GRCm39) R640Q probably damaging Het
Sec16b A G 1: 157,389,245 (GRCm39) E691G unknown Het
Septin1 A T 7: 126,813,937 (GRCm39) V365E unknown Het
Tlk2 A G 11: 105,101,444 (GRCm39) H114R probably benign Het
Tmem200a A G 10: 25,869,864 (GRCm39) I135T possibly damaging Het
Tpst2 T A 5: 112,455,782 (GRCm39) V107E probably damaging Het
Trim30a A T 7: 104,060,407 (GRCm39) D456E possibly damaging Het
Ttll3 T C 6: 113,371,738 (GRCm39) V45A possibly damaging Het
Ulk2 A G 11: 61,672,928 (GRCm39) Y889H probably benign Het
Umodl1 A G 17: 31,178,125 (GRCm39) S34G probably benign Het
Vmn1r67 A G 7: 10,180,903 (GRCm39) I56V probably benign Het
Vmn2r120 C T 17: 57,815,874 (GRCm39) G827E probably damaging Het
Zc3h6 T C 2: 128,857,555 (GRCm39) probably null Het
Other mutations in Psen1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00580:Psen1 APN 12 83,777,343 (GRCm39) missense probably benign 0.01
IGL00793:Psen1 APN 12 83,769,792 (GRCm39) missense probably damaging 0.98
IGL03171:Psen1 APN 12 83,761,638 (GRCm39) missense probably damaging 1.00
hiortron UTSW 12 83,771,439 (GRCm39) missense probably damaging 1.00
R0685:Psen1 UTSW 12 83,761,594 (GRCm39) nonsense probably null
R1394:Psen1 UTSW 12 83,771,346 (GRCm39) missense probably damaging 1.00
R1395:Psen1 UTSW 12 83,771,346 (GRCm39) missense probably damaging 1.00
R1681:Psen1 UTSW 12 83,771,394 (GRCm39) missense probably damaging 1.00
R2257:Psen1 UTSW 12 83,761,594 (GRCm39) missense probably damaging 1.00
R4833:Psen1 UTSW 12 83,778,552 (GRCm39) missense probably benign 0.23
R5077:Psen1 UTSW 12 83,771,439 (GRCm39) missense probably damaging 1.00
R5170:Psen1 UTSW 12 83,761,636 (GRCm39) missense probably damaging 1.00
R5782:Psen1 UTSW 12 83,759,233 (GRCm39) missense possibly damaging 0.54
R5804:Psen1 UTSW 12 83,778,474 (GRCm39) missense probably damaging 1.00
R7458:Psen1 UTSW 12 83,761,540 (GRCm39) missense probably damaging 1.00
R7494:Psen1 UTSW 12 83,775,017 (GRCm39) missense probably benign 0.19
R8547:Psen1 UTSW 12 83,761,630 (GRCm39) missense possibly damaging 0.68
R9286:Psen1 UTSW 12 83,775,549 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CTTTAGGCAGCTTGGAGGAG -3'
(R):5'- GGGGTGACATGAGGTTAAGTCC -3'

Sequencing Primer
(F):5'- CATGAGAGAAAGGTTTGTTCTTCCAG -3'
(R):5'- CCCGCAGAACAGAGTAAAACAAGTG -3'
Posted On 2019-11-26