Incidental Mutation 'R0317:Ets2'
ID 25500
Institutional Source Beutler Lab
Gene Symbol Ets2
Ensembl Gene ENSMUSG00000022895
Gene Name E26 avian leukemia oncogene 2, 3' domain
Synonyms Ets-2
MMRRC Submission 038527-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0317 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 95503274-95522093 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 95513193 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 123 (S123N)
Ref Sequence ENSEMBL: ENSMUSP00000023612 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023612] [ENSMUST00000155226]
AlphaFold P15037
Predicted Effect probably damaging
Transcript: ENSMUST00000023612
AA Change: S123N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000023612
Gene: ENSMUSG00000022895
AA Change: S123N

DomainStartEndE-ValueType
SAM_PNT 87 170 3.35e-43 SMART
low complexity region 259 269 N/A INTRINSIC
ETS 361 446 8.49e-57 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140544
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143554
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145509
Predicted Effect possibly damaging
Transcript: ENSMUST00000155226
AA Change: S123N

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000116638
Gene: ENSMUSG00000022895
AA Change: S123N

DomainStartEndE-ValueType
SAM_PNT 87 170 3.35e-43 SMART
low complexity region 259 269 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor which regulates genes involved in development and apoptosis. The encoded protein is also a protooncogene and shown to be involved in regulation of telomerase. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygotes for targeted null mutations exhibit defective trophoblast formation and die by embryonic day 8.5, but tetraploid chimeric rescue results in viable and fertile mutants with wavy hair. Mammary tumors induced in carriers are reduced in size. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,243,459 (GRCm39) V1774A probably damaging Het
Adam34 G A 8: 44,105,288 (GRCm39) P119L probably benign Het
Ap3b2 T C 7: 81,113,429 (GRCm39) probably null Het
Arfip2 G A 7: 105,286,430 (GRCm39) T124M probably damaging Het
Arhgef26 T C 3: 62,330,965 (GRCm39) S560P probably damaging Het
Bcl11a A T 11: 24,122,697 (GRCm39) probably null Het
Cab39 A G 1: 85,776,881 (GRCm39) E322G probably damaging Het
Cad C A 5: 31,229,665 (GRCm39) P1382Q probably benign Het
Cc2d2a T C 5: 43,864,243 (GRCm39) probably null Het
Cela2a A T 4: 141,549,011 (GRCm39) probably null Het
Cert1 C T 13: 96,770,629 (GRCm39) R487* probably null Het
Ces1e A C 8: 93,950,667 (GRCm39) I38S probably benign Het
Ces1f A T 8: 93,990,019 (GRCm39) F364I probably benign Het
Chgb A G 2: 132,635,731 (GRCm39) T558A probably benign Het
Cnpy4 C T 5: 138,191,074 (GRCm39) Q217* probably null Het
Crlf1 A G 8: 70,951,249 (GRCm39) T43A probably benign Het
Dnah7b T A 1: 46,173,816 (GRCm39) M707K probably damaging Het
Fry T C 5: 150,394,933 (GRCm39) F304S probably damaging Het
Gadd45gip1 G A 8: 85,560,745 (GRCm39) R120H probably benign Het
Gbf1 A G 19: 46,242,459 (GRCm39) T96A probably benign Het
Ggn T A 7: 28,870,515 (GRCm39) M1K probably null Het
Gm5239 A G 18: 35,669,969 (GRCm39) T112A probably benign Het
Insyn2b C A 11: 34,352,826 (GRCm39) D289E possibly damaging Het
Kifbp A T 10: 62,413,861 (GRCm39) probably null Het
Lrrc15 A T 16: 30,092,561 (GRCm39) H259Q probably benign Het
Lysmd4 A G 7: 66,876,045 (GRCm39) Y236C probably damaging Het
Med29 T C 7: 28,086,284 (GRCm39) T175A possibly damaging Het
Mfsd12 G T 10: 81,193,633 (GRCm39) D68Y probably damaging Het
Myh1 T C 11: 67,108,338 (GRCm39) L1308P probably damaging Het
Nphp4 T A 4: 152,636,388 (GRCm39) probably null Het
Or8g30 A G 9: 39,230,757 (GRCm39) I51T probably benign Het
Pdhx A G 2: 102,858,625 (GRCm39) V393A probably benign Het
Pgm5 A G 19: 24,801,763 (GRCm39) I155T possibly damaging Het
Pgr A T 9: 8,965,023 (GRCm39) I889F probably benign Het
Phactr4 T A 4: 132,114,241 (GRCm39) K51I probably damaging Het
Pum2 T A 12: 8,778,754 (GRCm39) I468K possibly damaging Het
Rab11a A G 9: 64,632,835 (GRCm39) S24P probably damaging Het
Rasef T C 4: 73,666,799 (GRCm39) Q160R probably damaging Het
Rbl2 A G 8: 91,813,772 (GRCm39) D339G probably benign Het
Recql5 A G 11: 115,785,499 (GRCm39) S666P probably benign Het
Rfc1 A T 5: 65,453,395 (GRCm39) probably null Het
Scarb1 A G 5: 125,366,756 (GRCm39) V59A probably damaging Het
Slc2a4 C T 11: 69,837,182 (GRCm39) V85M probably damaging Het
Slc6a12 A G 6: 121,335,584 (GRCm39) I291V possibly damaging Het
Slco3a1 A C 7: 74,154,174 (GRCm39) Y104D probably damaging Het
Suz12 T A 11: 79,889,904 (GRCm39) D13E probably damaging Het
Tlr1 G T 5: 65,083,310 (GRCm39) C422* probably null Het
Tmco1 T C 1: 167,153,462 (GRCm39) V114A probably damaging Het
Trpa1 T C 1: 14,951,856 (GRCm39) T948A probably benign Het
Tub A T 7: 108,620,134 (GRCm39) N93Y probably damaging Het
Ufsp2 G A 8: 46,445,270 (GRCm39) probably null Het
Veph1 T C 3: 66,079,396 (GRCm39) D373G probably benign Het
Vmn1r206 A G 13: 22,805,130 (GRCm39) S26P possibly damaging Het
Vmn2r1 T C 3: 63,989,240 (GRCm39) S60P possibly damaging Het
Wdcp A G 12: 4,901,583 (GRCm39) S480G probably benign Het
Wnk4 T C 11: 101,159,630 (GRCm39) S612P probably benign Het
Zfp503 T C 14: 22,036,527 (GRCm39) K130E probably benign Het
Zkscan16 G A 4: 58,957,602 (GRCm39) C628Y possibly damaging Het
Other mutations in Ets2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00571:Ets2 APN 16 95,513,185 (GRCm39) missense probably benign 0.01
IGL00843:Ets2 APN 16 95,510,837 (GRCm39) missense probably benign 0.03
IGL01911:Ets2 APN 16 95,512,802 (GRCm39) missense probably damaging 1.00
R0257:Ets2 UTSW 16 95,513,245 (GRCm39) nonsense probably null
R0398:Ets2 UTSW 16 95,517,267 (GRCm39) missense probably damaging 1.00
R0478:Ets2 UTSW 16 95,517,306 (GRCm39) missense probably damaging 1.00
R0634:Ets2 UTSW 16 95,517,200 (GRCm39) missense possibly damaging 0.87
R1621:Ets2 UTSW 16 95,510,913 (GRCm39) missense probably damaging 1.00
R1868:Ets2 UTSW 16 95,516,118 (GRCm39) missense probably benign 0.00
R2120:Ets2 UTSW 16 95,519,977 (GRCm39) missense probably benign 0.17
R3037:Ets2 UTSW 16 95,517,109 (GRCm39) missense probably benign 0.19
R3915:Ets2 UTSW 16 95,520,037 (GRCm39) missense probably damaging 1.00
R4086:Ets2 UTSW 16 95,510,833 (GRCm39) missense probably damaging 1.00
R4609:Ets2 UTSW 16 95,512,818 (GRCm39) missense probably benign 0.03
R4760:Ets2 UTSW 16 95,520,087 (GRCm39) missense probably damaging 1.00
R5245:Ets2 UTSW 16 95,513,304 (GRCm39) nonsense probably null
R5551:Ets2 UTSW 16 95,513,165 (GRCm39) missense probably damaging 1.00
R6057:Ets2 UTSW 16 95,515,416 (GRCm39) missense probably benign 0.00
R6376:Ets2 UTSW 16 95,520,037 (GRCm39) missense probably damaging 1.00
R7545:Ets2 UTSW 16 95,516,127 (GRCm39) missense probably benign 0.45
R7905:Ets2 UTSW 16 95,507,304 (GRCm39) missense probably damaging 0.97
R8013:Ets2 UTSW 16 95,517,144 (GRCm39) missense probably damaging 1.00
R8297:Ets2 UTSW 16 95,507,321 (GRCm39) missense probably damaging 1.00
R8482:Ets2 UTSW 16 95,516,019 (GRCm39) missense probably benign 0.00
R9489:Ets2 UTSW 16 95,516,121 (GRCm39) nonsense probably null
R9605:Ets2 UTSW 16 95,516,121 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GGGCCTGTCTTTGAAATGCTCCTG -3'
(R):5'- TCTGAGGCAATGGACTCTACCACTG -3'

Sequencing Primer
(F):5'- GAACATGCCTGTGTCACAGC -3'
(R):5'- AGGAAGGCCACACCTTCTG -3'
Posted On 2013-04-16