Incidental Mutation 'R8213:Sesn2'
ID 636244
Institutional Source Beutler Lab
Gene Symbol Sesn2
Ensembl Gene ENSMUSG00000028893
Gene Name sestrin 2
MMRRC Submission 067655-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.398) question?
Stock # R8213 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 132220115-132237767 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 132225364 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 267 (Q267H)
Ref Sequence ENSEMBL: ENSMUSP00000030724 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030724]
AlphaFold P58043
Predicted Effect possibly damaging
Transcript: ENSMUST00000030724
AA Change: Q267H

PolyPhen 2 Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000030724
Gene: ENSMUSG00000028893
AA Change: Q267H

Pfam:PA26 43 479 3.5e-199 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency 98% (65/66)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sestrin family of PA26-related proteins. The encoded protein may function in the regulation of cell growth and survival. This protein may be involved in cellular response to different stress conditions. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mouse lung fibroblasts homozgyous for a gene trap allele exhibit increased cellular sensitivity to hydrogen peroxide, decreased proliferation, and increased apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg T C 15: 60,791,605 (GRCm39) Y277C probably damaging Het
Acss1 T A 2: 150,461,630 (GRCm39) D651V possibly damaging Het
Aktip G T 8: 91,851,494 (GRCm39) P243H possibly damaging Het
Arl11 T G 14: 61,548,714 (GRCm39) S175A probably benign Het
Aup1 A G 6: 83,031,588 (GRCm39) probably benign Het
Avil A T 10: 126,844,190 (GRCm39) I250F probably damaging Het
Btnl6 A T 17: 34,727,857 (GRCm39) probably null Het
Ccdc7b C A 8: 129,904,772 (GRCm39) Q137K probably benign Het
Cdk11b G A 4: 155,724,338 (GRCm39) E319K unknown Het
Chka A C 19: 3,935,882 (GRCm39) E196A probably damaging Het
Depdc5 C T 5: 33,094,981 (GRCm39) R753C probably damaging Het
Dhx57 T A 17: 80,582,585 (GRCm39) D340V possibly damaging Het
Dicer1 A T 12: 104,668,952 (GRCm39) D1243E probably benign Het
Dnajb9 A T 12: 44,253,916 (GRCm39) L164M probably benign Het
Dock6 A G 9: 21,742,740 (GRCm39) V785A possibly damaging Het
Efcab5 T C 11: 77,006,897 (GRCm39) Y909C probably damaging Het
Erp44 A T 4: 48,208,783 (GRCm39) S226T probably benign Het
Fgd6 A T 10: 93,879,914 (GRCm39) D256V probably benign Het
Fhl5 A T 4: 25,207,113 (GRCm39) Y218* probably null Het
Filip1 C A 9: 79,725,374 (GRCm39) A1082S probably benign Het
Heatr5a G A 12: 51,938,226 (GRCm39) T1484M probably damaging Het
Herc1 G T 9: 66,358,170 (GRCm39) R2417L probably damaging Het
Hnrnpr A G 4: 136,044,486 (GRCm39) probably benign Het
Igsf5 A T 16: 96,174,188 (GRCm39) I73F probably damaging Het
Il17ra T C 6: 120,449,995 (GRCm39) V91A probably benign Het
Inpp5f A G 7: 128,281,529 (GRCm39) D510G probably damaging Het
Kbtbd3 A G 9: 4,331,269 (GRCm39) K548E probably damaging Het
Kdm5d T A Y: 941,515 (GRCm39) C1239S probably damaging Het
Mamdc4 G A 2: 25,456,368 (GRCm39) T709M probably benign Het
Mybbp1a T A 11: 72,335,547 (GRCm39) Y353N probably damaging Het
Nepn A T 10: 52,267,855 (GRCm39) E40D probably benign Het
Nhsl3 A T 4: 129,115,252 (GRCm39) V1070D possibly damaging Het
Npat G T 9: 53,481,870 (GRCm39) E1193* probably null Het
Nrde2 G A 12: 100,097,262 (GRCm39) S846L probably benign Het
Nup205 T C 6: 35,202,138 (GRCm39) V1290A probably benign Het
Or10a49 C A 7: 108,467,726 (GRCm39) V212L probably benign Het
Or4d10b A G 19: 12,036,456 (GRCm39) V220A probably benign Het
Or5g9 T A 2: 85,551,845 (GRCm39) L32Q probably null Het
Pde6a A T 18: 61,353,768 (GRCm39) K31M possibly damaging Het
Pms2 C T 5: 143,851,589 (GRCm39) R169C probably damaging Het
Polr2g A T 19: 8,775,621 (GRCm39) L30Q probably damaging Het
Pramel22 T A 4: 143,380,755 (GRCm39) M423L probably benign Het
Pramel30 A T 4: 144,057,030 (GRCm39) D71V probably benign Het
Prdm15 T A 16: 97,608,260 (GRCm39) H679L probably damaging Het
Prl4a1 T G 13: 28,207,369 (GRCm39) Y214* probably null Het
Prlr C T 15: 10,329,328 (GRCm39) T601M possibly damaging Het
Psen2 A C 1: 180,073,256 (GRCm39) S22A probably benign Het
Ralgapa1 C A 12: 55,769,699 (GRCm39) R764L probably damaging Het
Scgb2b11 T C 7: 31,908,833 (GRCm39) E89G probably damaging Het
Serpina10 T C 12: 103,594,536 (GRCm39) I228V probably benign Het
Serpinb1a T A 13: 33,026,982 (GRCm39) H320L probably damaging Het
Sgsm1 A T 5: 113,398,877 (GRCm39) W1019R probably damaging Het
Sqle A G 15: 59,193,151 (GRCm39) probably null Het
Syt14 T C 1: 192,669,137 (GRCm39) M39V probably benign Het
Tgm7 A G 2: 120,931,545 (GRCm39) V206A probably damaging Het
Thbs4 T C 13: 92,897,094 (GRCm39) probably null Het
Trpv1 T C 11: 73,145,077 (GRCm39) F721S probably damaging Het
Ttll10 A T 4: 156,120,691 (GRCm39) M433K probably benign Het
Vmn1r216 T C 13: 23,283,695 (GRCm39) I126T probably benign Het
Vmn2r108 G A 17: 20,690,350 (GRCm39) S494F probably benign Het
Vwa3b C T 1: 37,168,020 (GRCm39) A603V probably benign Het
Xirp2 T A 2: 67,307,210 (GRCm39) N19K probably damaging Het
Zfp397 T A 18: 24,093,779 (GRCm39) N421K probably damaging Het
Zscan5b C T 7: 6,236,946 (GRCm39) P232S possibly damaging Het
Other mutations in Sesn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00468:Sesn2 APN 4 132,227,124 (GRCm39) missense probably benign 0.00
IGL01319:Sesn2 APN 4 132,227,278 (GRCm39) splice site probably benign
IGL01336:Sesn2 APN 4 132,226,678 (GRCm39) missense probably benign 0.00
IGL01800:Sesn2 APN 4 132,226,418 (GRCm39) missense probably damaging 1.00
IGL02161:Sesn2 APN 4 132,224,229 (GRCm39) missense probably damaging 1.00
IGL02882:Sesn2 APN 4 132,221,104 (GRCm39) missense probably benign 0.16
R1845:Sesn2 UTSW 4 132,224,381 (GRCm39) nonsense probably null
R4732:Sesn2 UTSW 4 132,221,902 (GRCm39) missense probably damaging 1.00
R4733:Sesn2 UTSW 4 132,221,902 (GRCm39) missense probably damaging 1.00
R5097:Sesn2 UTSW 4 132,224,209 (GRCm39) missense probably benign 0.12
R5261:Sesn2 UTSW 4 132,226,617 (GRCm39) missense probably damaging 1.00
R5385:Sesn2 UTSW 4 132,226,575 (GRCm39) missense probably damaging 0.99
R6011:Sesn2 UTSW 4 132,226,708 (GRCm39) missense probably damaging 1.00
R6224:Sesn2 UTSW 4 132,229,881 (GRCm39) missense probably benign 0.01
R6852:Sesn2 UTSW 4 132,221,113 (GRCm39) missense possibly damaging 0.70
R7224:Sesn2 UTSW 4 132,224,724 (GRCm39) missense probably benign 0.22
R7546:Sesn2 UTSW 4 132,227,154 (GRCm39) missense probably damaging 1.00
R7682:Sesn2 UTSW 4 132,224,200 (GRCm39) missense probably damaging 0.99
R9041:Sesn2 UTSW 4 132,225,272 (GRCm39) missense probably benign 0.44
R9072:Sesn2 UTSW 4 132,224,195 (GRCm39) critical splice donor site probably null
R9073:Sesn2 UTSW 4 132,224,195 (GRCm39) critical splice donor site probably null
Z1176:Sesn2 UTSW 4 132,226,623 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2020-07-13