Incidental Mutation 'R8213:Psen2'
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ID636234
Institutional Source Beutler Lab
Gene Symbol Psen2
Ensembl Gene ENSMUSG00000010609
Gene Namepresenilin 2
SynonymsAd4h, PS-2, PS2, ALG-3
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R8213 (G1)
Quality Score225.009
Status Validated
Chromosome1
Chromosomal Location180227004-180263438 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 180245691 bp
ZygosityHeterozygous
Amino Acid Change Serine to Alanine at position 22 (S22A)
Ref Sequence ENSEMBL: ENSMUSP00000010753 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010753] [ENSMUST00000111104] [ENSMUST00000111105] [ENSMUST00000111106] [ENSMUST00000111108] [ENSMUST00000133340]
Predicted Effect probably benign
Transcript: ENSMUST00000010753
AA Change: S22A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000010753
Gene: ENSMUSG00000010609
AA Change: S22A

DomainStartEndE-ValueType
Blast:PSN 81 119 8e-15 BLAST
PSN 136 434 1.81e-138 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111104
AA Change: S22A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000106733
Gene: ENSMUSG00000010609
AA Change: S22A

DomainStartEndE-ValueType
Blast:PSN 81 119 8e-15 BLAST
PSN 136 433 3.63e-138 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111105
AA Change: S22A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000106734
Gene: ENSMUSG00000010609
AA Change: S22A

DomainStartEndE-ValueType
Blast:PSN 81 119 8e-15 BLAST
PSN 136 434 1.81e-138 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111106
AA Change: S22A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000106735
Gene: ENSMUSG00000010609
AA Change: S22A

DomainStartEndE-ValueType
Blast:PSN 81 119 8e-15 BLAST
PSN 136 434 1.81e-138 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111108
AA Change: S22A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000106737
Gene: ENSMUSG00000010609
AA Change: S22A

DomainStartEndE-ValueType
Blast:PSN 81 119 8e-15 BLAST
PSN 136 434 1.81e-138 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000133340
AA Change: S22A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
Meta Mutation Damage Score 0.1158 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency 98% (65/66)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg T C 15: 60,919,756 Y277C probably damaging Het
Acss1 T A 2: 150,619,710 D651V possibly damaging Het
Aktip G T 8: 91,124,866 P243H possibly damaging Het
Arl11 T G 14: 61,311,265 S175A probably benign Het
Aup1 A G 6: 83,054,607 probably benign Het
Avil A T 10: 127,008,321 I250F probably damaging Het
Btnl6 A T 17: 34,508,883 probably null Het
C77080 A T 4: 129,221,459 V1070D possibly damaging Het
Ccdc7b C A 8: 129,178,291 Q137K probably benign Het
Cdk11b G A 4: 155,639,881 E319K unknown Het
Chka A C 19: 3,885,882 E196A probably damaging Het
Depdc5 C T 5: 32,937,637 R753C probably damaging Het
Dhx57 T A 17: 80,275,156 D340V possibly damaging Het
Dicer1 A T 12: 104,702,693 D1243E probably benign Het
Dnajb9 A T 12: 44,207,133 L164M probably benign Het
Dock6 A G 9: 21,831,444 V785A possibly damaging Het
Efcab5 T C 11: 77,116,071 Y909C probably damaging Het
Erp44 A T 4: 48,208,783 S226T probably benign Het
Fgd6 A T 10: 94,044,052 D256V probably benign Het
Fhl5 A T 4: 25,207,113 Y218* probably null Het
Filip1 C A 9: 79,818,092 A1082S probably benign Het
Gm13088 T A 4: 143,654,185 M423L probably benign Het
Gm13128 A T 4: 144,330,460 D71V probably benign Het
Heatr5a G A 12: 51,891,443 T1484M probably damaging Het
Herc1 G T 9: 66,450,888 R2417L probably damaging Het
Hnrnpr A G 4: 136,317,175 probably benign Het
Igsf5 A T 16: 96,372,988 I73F probably damaging Het
Il17ra T C 6: 120,473,034 V91A probably benign Het
Inpp5f A G 7: 128,679,805 D510G probably damaging Het
Kbtbd3 A G 9: 4,331,269 K548E probably damaging Het
Kdm5d T A Y: 941,515 C1239S probably damaging Het
Mamdc4 G A 2: 25,566,356 T709M probably benign Het
Mybbp1a T A 11: 72,444,721 Y353N probably damaging Het
Nepn A T 10: 52,391,759 E40D probably benign Het
Npat G T 9: 53,570,570 E1193* probably null Het
Nrde2 G A 12: 100,131,003 S846L probably benign Het
Nup205 T C 6: 35,225,203 V1290A probably benign Het
Olfr1009 T A 2: 85,721,501 L32Q probably null Het
Olfr1424 A G 19: 12,059,092 V220A probably benign Het
Olfr517 C A 7: 108,868,519 V212L probably benign Het
Pde6a A T 18: 61,220,696 K31M possibly damaging Het
Pms2 C T 5: 143,914,771 R169C probably damaging Het
Polr2g A T 19: 8,798,257 L30Q probably damaging Het
Prdm15 T A 16: 97,807,060 H679L probably damaging Het
Prl4a1 T G 13: 28,023,386 Y214* probably null Het
Prlr C T 15: 10,329,242 T601M possibly damaging Het
Ralgapa1 C A 12: 55,722,914 R764L probably damaging Het
Scgb2b11 T C 7: 32,209,408 E89G probably damaging Het
Serpina10 T C 12: 103,628,277 I228V probably benign Het
Serpinb1a T A 13: 32,842,999 H320L probably damaging Het
Sesn2 C A 4: 132,498,053 Q267H possibly damaging Het
Sgsm1 A T 5: 113,251,011 W1019R probably damaging Het
Sqle A G 15: 59,321,302 probably null Het
Syt14 T C 1: 192,986,829 M39V probably benign Het
Tgm7 A G 2: 121,101,064 V206A probably damaging Het
Thbs4 T C 13: 92,760,586 probably null Het
Trpv1 T C 11: 73,254,251 F721S probably damaging Het
Ttll10 A T 4: 156,036,234 M433K probably benign Het
Vmn1r216 T C 13: 23,099,525 I126T probably benign Het
Vmn2r108 G A 17: 20,470,088 S494F probably benign Het
Vwa3b C T 1: 37,128,939 A603V probably benign Het
Xirp2 T A 2: 67,476,866 N19K probably damaging Het
Zfp397 T A 18: 23,960,722 N421K probably damaging Het
Zscan5b C T 7: 6,233,947 P232S possibly damaging Het
Other mutations in Psen2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01403:Psen2 APN 1 180234983 splice site probably benign
IGL01805:Psen2 APN 1 180229838 splice site probably null
IGL02126:Psen2 APN 1 180229923 missense probably benign 0.25
IGL02481:Psen2 APN 1 180235061 missense probably damaging 0.97
IGL02483:Psen2 APN 1 180235061 missense probably damaging 0.97
IGL02524:Psen2 APN 1 180245667 missense probably benign 0.00
IGL02864:Psen2 APN 1 180245703 missense probably benign 0.05
IGL03139:Psen2 APN 1 180240785 missense probably damaging 1.00
IGL03237:Psen2 APN 1 180240849 missense possibly damaging 0.67
R0110:Psen2 UTSW 1 180238914 missense probably damaging 1.00
R0365:Psen2 UTSW 1 180228845 missense probably damaging 0.99
R0469:Psen2 UTSW 1 180238914 missense probably damaging 1.00
R1495:Psen2 UTSW 1 180228854 missense probably damaging 1.00
R1621:Psen2 UTSW 1 180229465 missense probably benign
R2151:Psen2 UTSW 1 180233664 missense probably damaging 1.00
R4394:Psen2 UTSW 1 180240782 missense probably damaging 1.00
R4702:Psen2 UTSW 1 180227724 missense probably damaging 1.00
R4847:Psen2 UTSW 1 180245632 splice site probably null
R5070:Psen2 UTSW 1 180228857 missense probably benign
R5735:Psen2 UTSW 1 180240926 missense probably benign 0.00
R6001:Psen2 UTSW 1 180245669 missense possibly damaging 0.52
R6041:Psen2 UTSW 1 180245727 nonsense probably null
R7033:Psen2 UTSW 1 180227520 splice site probably null
R7291:Psen2 UTSW 1 180238956 missense probably benign 0.23
R8103:Psen2 UTSW 1 180240791 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AATTCAACTTGCAGATGAAACGGC -3'
(R):5'- TTTGACTTGTATGTAGAAAGCTTGT -3'

Sequencing Primer
(F):5'- GGAGAGGACATTCCCTTATGATCTC -3'
(R):5'- TAGAAAGCTTGTTATAGGCAAGACC -3'
Posted On2020-07-13