Incidental Mutation 'R1395:Psen1'
ID 162824
Institutional Source Beutler Lab
Gene Symbol Psen1
Ensembl Gene ENSMUSG00000019969
Gene Name presenilin 1
Synonyms PS1, presenilin-1, Ad3h, S182, PS-1
MMRRC Submission 039457-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1395 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 83734926-83781869 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 83771346 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 209 (G209R)
Ref Sequence ENSEMBL: ENSMUSP00000098786 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041806] [ENSMUST00000101225]
AlphaFold P49769
Predicted Effect probably damaging
Transcript: ENSMUST00000041806
AA Change: G209R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048363
Gene: ENSMUSG00000019969
AA Change: G209R

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 damaging
Transcript: ENSMUST00000101225
AA Change: G209R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098786
Gene: ENSMUSG00000019969
AA Change: G209R

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 noncoding transcript
Transcript: ENSMUST00000221072
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221993
Meta Mutation Damage Score 0.9742 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 92.0%
Validation Efficiency 99% (70/71)
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
2900026A02Rik A G 5: 113,249,362 (GRCm39) Y122H probably damaging Het
A330070K13Rik A G 5: 130,407,982 (GRCm39) probably benign Het
Abcc2 A G 19: 43,822,379 (GRCm39) R1406G probably benign Het
Adgrv1 G T 13: 81,534,907 (GRCm39) T5786K probably benign Het
Ankrd27 T C 7: 35,315,294 (GRCm39) F481S possibly damaging Het
Arhgap11a C T 2: 113,663,467 (GRCm39) V939I probably benign Het
Arhgap12 T C 18: 6,037,058 (GRCm39) N561S probably benign Het
Arhgef12 T C 9: 42,917,166 (GRCm39) H391R probably damaging Het
Asb3 T C 11: 31,051,032 (GRCm39) probably benign Het
C2cd5 T C 6: 143,007,464 (GRCm39) probably benign Het
Ccdc85a T C 11: 28,533,412 (GRCm39) K44R possibly damaging Het
Cep128 C T 12: 91,233,754 (GRCm39) R438Q probably benign Het
Cep192 A G 18: 67,991,992 (GRCm39) T1957A probably damaging Het
Col20a1 T A 2: 180,640,400 (GRCm39) V519E probably damaging Het
Cylc2 A G 4: 51,228,366 (GRCm39) K146E possibly damaging Het
Drgx C T 14: 32,330,326 (GRCm39) P148S probably benign Het
Dst T C 1: 34,204,236 (GRCm39) probably null Het
Eef1a1 C T 9: 78,386,300 (GRCm39) V402I probably benign Het
Esyt3 T C 9: 99,198,835 (GRCm39) probably benign Het
Extl3 A G 14: 65,314,945 (GRCm39) V79A possibly damaging Het
Fat3 C T 9: 16,158,212 (GRCm39) V1133I probably benign Het
Fcgbp A G 7: 27,792,804 (GRCm39) H936R probably damaging Het
Fdxacb1 TAGAC T 9: 50,683,796 (GRCm39) probably null Het
Fryl T C 5: 73,230,255 (GRCm39) H1634R probably damaging Het
Gm44511 G A 6: 128,797,293 (GRCm39) S32L possibly damaging Het
Gm8374 G T 14: 18,537,058 (GRCm39) N55K probably benign Het
Gria1 T A 11: 57,174,392 (GRCm39) I558N probably damaging Het
Gse1 G T 8: 121,301,738 (GRCm39) probably benign Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Hectd4 T C 5: 121,466,576 (GRCm39) probably null Het
Herc1 T C 9: 66,346,463 (GRCm39) I1943T probably benign Het
Ift172 T C 5: 31,442,582 (GRCm39) probably benign Het
Ift81 G T 5: 122,706,986 (GRCm39) D485E probably benign Het
Lactb T C 9: 66,878,661 (GRCm39) probably benign Het
Map1a C T 2: 121,134,406 (GRCm39) H1741Y probably benign Het
Map1lc3b T C 8: 122,323,459 (GRCm39) Y110H probably benign Het
Mlh1 T C 9: 111,076,445 (GRCm39) D304G probably damaging Het
Myo1f A G 17: 33,802,714 (GRCm39) D386G probably damaging Het
Ncoa4 T A 14: 31,894,798 (GRCm39) probably null Het
Neto1 T C 18: 86,416,144 (GRCm39) probably benign Het
Nf1 T C 11: 79,426,809 (GRCm39) V1741A possibly damaging Het
Nkain2 C A 10: 32,766,185 (GRCm39) probably benign Het
Obsl1 T C 1: 75,469,309 (GRCm39) S109G probably damaging Het
Or51ah3 T C 7: 103,210,326 (GRCm39) L214P possibly damaging Het
Or51f23 G A 7: 102,453,414 (GRCm39) C243Y possibly damaging Het
Or6z6 T A 7: 6,491,361 (GRCm39) T171S probably damaging Het
Or9s13 T A 1: 92,548,267 (GRCm39) I213N probably benign Het
Phlpp1 T C 1: 106,278,348 (GRCm39) V920A possibly damaging Het
Ralgapa2 T G 2: 146,230,420 (GRCm39) K963N probably damaging Het
Rdh12 A G 12: 79,255,839 (GRCm39) T9A probably benign Het
Rgma G T 7: 73,067,542 (GRCm39) A360S probably benign Het
Sag G A 1: 87,756,163 (GRCm39) V257I probably benign Het
Scaf1 T C 7: 44,657,721 (GRCm39) E386G probably damaging Het
Slc4a10 A G 2: 62,143,630 (GRCm39) E1055G probably benign Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Spata31e5 T C 1: 28,815,890 (GRCm39) E714G possibly damaging Het
Spata46 A G 1: 170,139,573 (GRCm39) T191A probably benign Het
Tgm2 T A 2: 157,966,172 (GRCm39) H494L probably benign Het
Tub C T 7: 108,620,161 (GRCm39) R102* probably null Het
Ugt3a1 T G 15: 9,306,378 (GRCm39) L176V possibly damaging Het
Vmn2r15 T A 5: 109,442,014 (GRCm39) I140L probably benign Het
Wdr44 T G X: 23,662,298 (GRCm39) C645G probably damaging Het
Wdr87-ps T A 7: 29,230,812 (GRCm39) noncoding transcript Het
Zfp322a C T 13: 23,540,945 (GRCm39) V266I probably benign Het
Zfp663 T C 2: 165,194,492 (GRCm39) R576G probably damaging 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
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
R7797:Psen1 UTSW 12 83,746,396 (GRCm39) missense probably benign 0.02
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'- TTGAGGTCCATCCCAGCTTCACAC -3'
(R):5'- AAAGCACACCAGTGAGTGAGTCTG -3'

Sequencing Primer
(F):5'- acataaataacagcacagcatagg -3'
(R):5'- CTGTGATGGACAAAGTGTCAGTC -3'
Posted On 2014-03-17