Incidental Mutation 'R5735:Psen2'
ID 451622
Institutional Source Beutler Lab
Gene Symbol Psen2
Ensembl Gene ENSMUSG00000010609
Gene Name presenilin 2
Synonyms Ad4h, PS-2, ALG-3, PS2
MMRRC Submission 043349-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5735 (G1)
Quality Score 156
Status Not validated
Chromosome 1
Chromosomal Location 180054569-180091003 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 180068491 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 54 (E54V)
Ref Sequence ENSEMBL: ENSMUSP00000106733 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010753] [ENSMUST00000111104] [ENSMUST00000111105] [ENSMUST00000111106] [ENSMUST00000111108] [ENSMUST00000133340]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000010753
AA Change: E54V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000010753
Gene: ENSMUSG00000010609
AA Change: E54V

DomainStartEndE-ValueType
Blast:PSN 81 119 8e-15 BLAST
PSN 136 434 1.81e-138 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111104
AA Change: E54V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000106733
Gene: ENSMUSG00000010609
AA Change: E54V

DomainStartEndE-ValueType
Blast:PSN 81 119 8e-15 BLAST
PSN 136 433 3.63e-138 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111105
AA Change: E54V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106734
Gene: ENSMUSG00000010609
AA Change: E54V

DomainStartEndE-ValueType
Blast:PSN 81 119 8e-15 BLAST
PSN 136 434 1.81e-138 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111106
AA Change: E54V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106735
Gene: ENSMUSG00000010609
AA Change: E54V

DomainStartEndE-ValueType
Blast:PSN 81 119 8e-15 BLAST
PSN 136 434 1.81e-138 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111108
AA Change: E54V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106737
Gene: ENSMUSG00000010609
AA Change: E54V

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
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.8%
  • 20x: 94.4%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 C A 13: 70,984,337 (GRCm39) D109Y possibly damaging Het
Armc8 T A 9: 99,379,447 (GRCm39) probably null Het
Atg4b G T 1: 93,701,519 (GRCm39) G71V probably damaging Het
Atp10b A T 11: 43,042,601 (GRCm39) M54L probably benign Het
Baiap2l1 A G 5: 144,223,112 (GRCm39) L75P probably damaging Het
Bnc2 A C 4: 84,210,908 (GRCm39) L487R probably damaging Het
Cacng7 T C 7: 3,387,539 (GRCm39) S141P probably benign Het
Carmil2 G A 8: 106,424,663 (GRCm39) G1361D probably damaging Het
Cenpf T C 1: 189,386,560 (GRCm39) I1907V probably benign Het
Cep192 T C 18: 68,013,866 (GRCm39) V2422A probably benign Het
Cfap73 T A 5: 120,770,671 (GRCm39) Q33L probably benign Het
Cip2a T A 16: 48,837,856 (GRCm39) probably null Het
Cmtm2a A T 8: 105,019,418 (GRCm39) I57N probably damaging Het
Col6a2 T A 10: 76,435,727 (GRCm39) D836V probably benign Het
Dnah2 A G 11: 69,321,643 (GRCm39) V3839A possibly damaging Het
Enpp1 A T 10: 24,530,817 (GRCm39) F546L possibly damaging Het
Eps8l2 A G 7: 140,940,290 (GRCm39) T507A probably damaging Het
Erg28 C T 12: 85,862,926 (GRCm39) E129K probably benign Het
Erlec1 A T 11: 30,900,591 (GRCm39) N153K probably benign Het
Fam234a T C 17: 26,432,679 (GRCm39) E490G probably damaging Het
Fat4 C T 3: 39,003,725 (GRCm39) R1815C probably damaging Het
Galnt1 T G 18: 24,397,577 (GRCm39) I226S possibly damaging Het
Ifnl2 T A 7: 28,209,614 (GRCm39) I58F possibly damaging Het
Itih5 A G 2: 10,245,572 (GRCm39) N554D probably benign Het
Kcna10 A G 3: 107,102,394 (GRCm39) I342V probably benign Het
Kif6 G A 17: 50,139,210 (GRCm39) E561K probably damaging Het
Kl A G 5: 150,915,003 (GRCm39) N910S possibly damaging Het
Lpar2 G T 8: 70,276,385 (GRCm39) R58L probably damaging Het
Macrod2 A G 2: 140,260,809 (GRCm39) T27A possibly damaging Het
Mfsd2a A T 4: 122,843,120 (GRCm39) V387D probably damaging Het
Npas3 A T 12: 54,050,262 (GRCm39) T231S probably benign Het
Or4a70 A T 2: 89,323,812 (GRCm39) N281K probably damaging Het
Or52n5 A T 7: 104,587,966 (GRCm39) T78S probably benign Het
Or5aq1b A T 2: 86,901,756 (GRCm39) C241S probably damaging Het
Or8h10 A G 2: 86,809,044 (GRCm39) V32A probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pde10a A T 17: 9,160,024 (GRCm39) I432F probably damaging Het
Phka2 ACC AC X: 159,342,862 (GRCm39) probably null Het
Pomt1 G A 2: 32,133,517 (GRCm39) G218R probably damaging Het
Potefam1 A T 2: 111,055,837 (GRCm39) L183* probably null Het
Pramel22 A T 4: 143,381,205 (GRCm39) C273S probably damaging Het
Prdm5 C T 6: 65,904,974 (GRCm39) T157I possibly damaging Het
Ptpn13 C A 5: 103,702,686 (GRCm39) H1217Q probably benign Het
Ptprt A G 2: 161,376,484 (GRCm39) S1306P probably damaging Het
Ptpru G T 4: 131,565,401 (GRCm39) P23T probably benign Het
Rtn3 T C 19: 7,434,057 (GRCm39) E626G probably damaging Het
Scn3a A T 2: 65,312,622 (GRCm39) M1191K probably damaging Het
Scn3a T A 2: 65,314,803 (GRCm39) N1086I probably benign Het
Sgms2 A T 3: 131,129,866 (GRCm39) M174K probably damaging Het
Skor1 T A 9: 63,053,346 (GRCm39) I180F probably damaging Het
Slit2 T G 5: 48,416,958 (GRCm39) C1003W probably damaging Het
Tbc1d2b T A 9: 90,104,462 (GRCm39) Q560L possibly damaging Het
Themis A G 10: 28,598,530 (GRCm39) I51V probably benign Het
Tmem203 T C 2: 25,146,085 (GRCm39) V135A probably benign Het
Tns1 T C 1: 73,967,138 (GRCm39) T1212A probably benign Het
Trgv5 T G 13: 19,376,695 (GRCm39) H47Q probably benign Het
Trim2 G A 3: 84,075,029 (GRCm39) A697V probably damaging Het
Ubxn4 T C 1: 128,186,677 (GRCm39) S37P possibly damaging Het
Vmn2r17 A G 5: 109,600,716 (GRCm39) I671M possibly damaging Het
Vmn2r94 G T 17: 18,464,066 (GRCm39) S741R probably damaging Het
Vwce C A 19: 10,624,431 (GRCm39) D414E probably benign Het
Zfp397 T C 18: 24,093,249 (GRCm39) S245P possibly damaging Het
Zfp747l1 G T 7: 126,984,579 (GRCm39) H174Q possibly damaging Het
Zfp809 T A 9: 22,150,227 (GRCm39) Y241* probably null Het
Zfp995 C T 17: 22,101,010 (GRCm39) C29Y probably benign Het
Zfta A G 19: 7,400,161 (GRCm39) E209G probably benign Het
Zfyve26 T C 12: 79,320,147 (GRCm39) D1066G probably damaging 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
R4702:Psen2 UTSW 1 180,055,289 (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
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'- AGTGTAGAAACGCACAGACTTG -3'
(R):5'- CTATGCAGGCTAGCTCTGAC -3'

Sequencing Primer
(F):5'- GCACAGACTTGATAGTGGCCAC -3'
(R):5'- AGGCTAGCTCTGACCCTCC -3'
Posted On 2017-01-03