Incidental Mutation 'R2151:Psen2'
ID 234231
Institutional Source Beutler Lab
Gene Symbol Psen2
Ensembl Gene ENSMUSG00000010609
Gene Name presenilin 2
Synonyms Ad4h, PS-2, ALG-3, PS2
MMRRC Submission 040154-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2151 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 180054569-180091003 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 180061229 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 278 (V278A)
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: V278A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000010753
Gene: ENSMUSG00000010609
AA Change: V278A

DomainStartEndE-ValueType
Blast:PSN 81 119 8e-15 BLAST
PSN 136 434 1.81e-138 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111104
AA Change: V278A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106733
Gene: ENSMUSG00000010609
AA Change: V278A

DomainStartEndE-ValueType
Blast:PSN 81 119 8e-15 BLAST
PSN 136 433 3.63e-138 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111105
AA Change: V278A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106734
Gene: ENSMUSG00000010609
AA Change: V278A

DomainStartEndE-ValueType
Blast:PSN 81 119 8e-15 BLAST
PSN 136 434 1.81e-138 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111106
AA Change: V278A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106735
Gene: ENSMUSG00000010609
AA Change: V278A

DomainStartEndE-ValueType
Blast:PSN 81 119 8e-15 BLAST
PSN 136 434 1.81e-138 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111108
AA Change: V278A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106737
Gene: ENSMUSG00000010609
AA Change: V278A

DomainStartEndE-ValueType
Blast:PSN 81 119 8e-15 BLAST
PSN 136 434 1.81e-138 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128223
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149590
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130029
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130711
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193897
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136291
Meta Mutation Damage Score 0.9475 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 100% (91/91)
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik T C 12: 72,954,725 (GRCm39) probably null Het
4930579F01Rik A G 3: 137,882,217 (GRCm39) probably null Het
Abhd17c G T 7: 83,800,663 (GRCm39) H130Q probably damaging Het
Actr10 T A 12: 70,987,575 (GRCm39) C27* probably null Het
Als2 G A 1: 59,246,948 (GRCm39) H564Y probably damaging Het
Anxa2r1 C T 13: 120,496,335 (GRCm39) C178Y unknown Het
Art5 A G 7: 101,747,407 (GRCm39) L124P possibly damaging Het
Asap2 A T 12: 21,162,084 (GRCm39) T14S probably damaging Het
Atp2c2 A G 8: 120,482,841 (GRCm39) N901S probably benign Het
Bicd2 G T 13: 49,533,052 (GRCm39) C546F probably damaging Het
Ccn3 G A 15: 54,615,854 (GRCm39) A340T probably benign Het
Cnbp C T 6: 87,822,281 (GRCm39) G81D probably damaging Het
Dnah5 T C 15: 28,444,237 (GRCm39) Y4012H probably damaging Het
Dok5 G A 2: 170,642,816 (GRCm39) G38D probably damaging Het
Drc3 A T 11: 60,265,983 (GRCm39) E224V probably benign Het
Ehd2 T C 7: 15,686,128 (GRCm39) K315E probably damaging Het
Eif6 A T 2: 155,664,810 (GRCm39) N225K probably benign Het
Epg5 T C 18: 78,070,517 (GRCm39) V2264A probably benign Het
Faf2 T C 13: 54,796,220 (GRCm39) F126L probably damaging Het
Fiz1 T C 7: 5,015,880 (GRCm39) S37G possibly damaging Het
Frs3 T C 17: 48,013,987 (GRCm39) S227P probably benign Het
Garin3 A T 11: 46,296,158 (GRCm39) K177* probably null Het
Gm4787 T A 12: 81,423,993 (GRCm39) I722F probably benign Het
Gm6370 T A 5: 146,430,451 (GRCm39) L212Q probably damaging Het
Gmnc G A 16: 26,779,456 (GRCm39) H142Y possibly damaging Het
Gna15 T C 10: 81,338,738 (GRCm39) Y367C probably damaging Het
Gpr158 G A 2: 21,832,325 (GRCm39) V1142M possibly damaging Het
Gpx6 A G 13: 21,503,141 (GRCm39) K185R probably damaging Het
Hc A C 2: 34,881,115 (GRCm39) probably benign Het
Hdac9 A G 12: 34,440,255 (GRCm39) S375P probably damaging Het
Kat6b A T 14: 21,718,735 (GRCm39) H1138L probably benign Het
Klre1 G A 6: 129,556,996 (GRCm39) E33K possibly damaging Het
Ldhb C A 6: 142,444,396 (GRCm39) V86L possibly damaging Het
Maco1 A G 4: 134,538,534 (GRCm39) V470A probably benign Het
Magi3 T A 3: 103,954,198 (GRCm39) K713I probably damaging Het
Magi3 T C 3: 103,992,554 (GRCm39) Y306C probably damaging Het
Minar1 T G 9: 89,484,221 (GRCm39) K392T possibly damaging Het
Mmp17 T C 5: 129,682,725 (GRCm39) Y455H probably benign Het
Mmp25 T A 17: 23,850,048 (GRCm39) Y504F probably damaging Het
Myo1a T C 10: 127,556,050 (GRCm39) I969T probably benign Het
Nedd4l T A 18: 65,343,401 (GRCm39) H820Q probably damaging Het
Nf1 T A 11: 79,338,396 (GRCm39) M1136K possibly damaging Het
Nmi T C 2: 51,842,555 (GRCm39) E179G probably damaging Het
Nrros A T 16: 31,962,076 (GRCm39) M611K probably benign Het
Nsd1 A T 13: 55,439,049 (GRCm39) N1692I probably damaging Het
Nuak1 T C 10: 84,245,509 (GRCm39) N112S probably benign Het
Odf2l T C 3: 144,854,785 (GRCm39) Y488H possibly damaging Het
Or4c106 C A 2: 88,683,128 (GRCm39) P278H probably damaging Het
Or8g21 T A 9: 38,906,012 (GRCm39) T240S probably damaging Het
Or8g30 T A 9: 39,230,413 (GRCm39) I166F probably damaging Het
Otop2 A G 11: 115,220,237 (GRCm39) D359G possibly damaging Het
Pi4ka A T 16: 17,185,371 (GRCm39) F243Y probably benign Het
Pnma8b T C 7: 16,679,837 (GRCm39) C274R probably benign Het
Ppp1r42 A G 1: 10,073,572 (GRCm39) V6A probably benign Het
Prrg4 A G 2: 104,669,733 (GRCm39) L128S probably damaging Het
Prss33 C T 17: 24,053,817 (GRCm39) V87M probably damaging Het
Ptpn13 C A 5: 103,673,651 (GRCm39) T538K probably damaging Het
Pttg1ip2 C T 5: 5,528,875 (GRCm39) V47I possibly damaging Het
Rad51ap2 A G 12: 11,507,986 (GRCm39) H636R probably benign Het
Rbak A C 5: 143,162,257 (GRCm39) D35E possibly damaging Het
Rbms1 C A 2: 60,592,392 (GRCm39) probably null Het
Rgs7bp T A 13: 105,100,597 (GRCm39) N226I probably damaging Het
Rnf182 T A 13: 43,821,899 (GRCm39) V150E probably benign Het
Sacs A G 14: 61,447,089 (GRCm39) Y3045C probably damaging Het
Scp2 G T 4: 107,921,141 (GRCm39) A23E probably benign Het
Sec16a A T 2: 26,303,757 (GRCm39) probably benign Het
Slc30a5 A T 13: 100,940,457 (GRCm39) H619Q probably damaging Het
Slfn10-ps T A 11: 82,926,511 (GRCm39) noncoding transcript Het
Slmap A G 14: 26,139,402 (GRCm39) Y771H probably damaging Het
Slx T A X: 26,489,689 (GRCm39) probably benign Het
Spns3 C A 11: 72,436,787 (GRCm39) probably benign Het
Stxbp1 T A 2: 32,692,868 (GRCm39) I383F probably damaging Het
Taf3 C T 2: 9,956,377 (GRCm39) E597K possibly damaging Het
Tbcd A G 11: 121,494,457 (GRCm39) Q1006R possibly damaging Het
Tenm4 G T 7: 96,552,054 (GRCm39) V2498F probably damaging Het
Tex2 T C 11: 106,458,161 (GRCm39) probably benign Het
Tkfc A T 19: 10,576,421 (GRCm39) L154Q probably damaging Het
Tmem62 A G 2: 120,817,343 (GRCm39) H257R probably damaging Het
Trpm2 T C 10: 77,768,013 (GRCm39) I829V probably benign Het
Ttc38 A G 15: 85,735,802 (GRCm39) probably null Het
Ttn A T 2: 76,548,757 (GRCm39) Y30135* probably null Het
Ttn A G 2: 76,810,477 (GRCm39) V17A probably benign Het
Ubqlnl A T 7: 103,797,890 (GRCm39) C536S probably benign Het
Vmn1r230 T A 17: 21,067,063 (GRCm39) M84K probably damaging Het
Vmn1r235 G A 17: 21,482,628 (GRCm39) V318I probably benign Het
Vmn2r76 T C 7: 85,879,692 (GRCm39) I203V probably benign Het
Vmn2r97 A T 17: 19,167,584 (GRCm39) R613* probably null Het
Zfp180 A G 7: 23,804,685 (GRCm39) H368R probably damaging Het
Zfp407 T C 18: 84,227,774 (GRCm39) D1945G possibly damaging Het
Zfyve27 G T 19: 42,160,170 (GRCm39) R62L 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
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
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'- GGCGACCTCAGTGTTATGATAAG -3'
(R):5'- ATGCAAACTGGATAAGTGGCC -3'

Sequencing Primer
(F):5'- GACCTCAGTGTTATGATAAGACCCTC -3'
(R):5'- ATAAGTGGCCTTGGGACCC -3'
Posted On 2014-10-01