Incidental Mutation 'R1394:Psen1'
ID 162757
Institutional Source Beutler Lab
Gene Symbol Psen1
Ensembl Gene ENSMUSG00000019969
Gene Name presenilin 1
Synonyms PS1, presenilin-1, Ad3h, S182, PS-1
MMRRC Submission 039456-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1394 (G1)
Quality Score 225
Status Not 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: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.4%
Validation Efficiency
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik A G 5: 113,249,362 (GRCm39) Y122H probably damaging Het
Ankrd27 T C 7: 35,315,294 (GRCm39) F481S possibly damaging Het
Casd1 T G 6: 4,624,117 (GRCm39) C303W probably 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
Cep290 T C 10: 100,373,391 (GRCm39) S1224P possibly damaging Het
Col5a2 A G 1: 45,442,579 (GRCm39) probably null Het
Cwc22 G A 2: 77,759,823 (GRCm39) R75C possibly damaging Het
Cyp4a30b A T 4: 115,328,089 (GRCm39) probably null Het
Dnah11 T C 12: 117,936,099 (GRCm39) D3298G possibly damaging Het
Drc3 T C 11: 60,284,545 (GRCm39) I450T possibly damaging Het
Dst T C 1: 34,204,236 (GRCm39) probably null Het
Dync1h1 G A 12: 110,602,943 (GRCm39) E2195K probably benign Het
Emilin2 G T 17: 71,560,066 (GRCm39) D970E possibly damaging Het
Fcgbp A G 7: 27,792,804 (GRCm39) H936R probably damaging Het
Fkbp15 T A 4: 62,246,109 (GRCm39) M440L probably benign 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
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Ift81 G T 5: 122,706,986 (GRCm39) D485E probably benign Het
Ipp T A 4: 116,395,109 (GRCm39) L548* probably null Het
Itm2a C T X: 106,441,807 (GRCm39) V200I possibly damaging Het
Kank1 A G 19: 25,405,528 (GRCm39) N1182S probably damaging Het
Mkks C T 2: 136,722,882 (GRCm39) G92S probably damaging Het
Mybbp1a C T 11: 72,334,474 (GRCm39) P243L probably damaging Het
Myo1f A G 17: 33,802,714 (GRCm39) D386G probably damaging Het
Obsl1 T C 1: 75,469,309 (GRCm39) S109G probably 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
Pcdh12 A G 18: 38,414,242 (GRCm39) probably null Het
Phlpp1 T C 1: 106,278,348 (GRCm39) V920A possibly damaging Het
Phlpp2 T A 8: 110,603,662 (GRCm39) C109* probably null Het
Prickle2 T A 6: 92,353,363 (GRCm39) H701L possibly damaging Het
Psg19 T C 7: 18,530,983 (GRCm39) N57S 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
Scyl2 T A 10: 89,476,827 (GRCm39) K766M possibly damaging 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
Spin1 T C 13: 51,298,517 (GRCm39) Y179H probably damaging Het
Tecpr1 T C 5: 144,143,357 (GRCm39) T673A possibly damaging Het
Tenm3 T A 8: 48,729,435 (GRCm39) M1508L probably benign Het
Vasn C T 16: 4,467,576 (GRCm39) R508* probably null 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
Zfand1 G T 3: 10,411,269 (GRCm39) T62K probably benign Het
Zfy1 C T Y: 725,957 (GRCm39) V603I possibly 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
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
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