Incidental Mutation 'R6972:Etv2'
ID 542298
Institutional Source Beutler Lab
Gene Symbol Etv2
Ensembl Gene ENSMUSG00000006311
Gene Name ets variant 2
Synonyms Etsrp71
MMRRC Submission 045082-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6972 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 30333041-30335277 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30334167 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 189 (N189D)
Ref Sequence ENSEMBL: ENSMUSP00000103782 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108147]
AlphaFold P41163
Predicted Effect probably benign
Transcript: ENSMUST00000108147
AA Change: N189D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000103782
Gene: ENSMUSG00000006311
AA Change: N189D

DomainStartEndE-ValueType
low complexity region 102 114 N/A INTRINSIC
ETS 233 318 4.77e-51 SMART
Meta Mutation Damage Score 0.1229 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.0%
  • 20x: 95.8%
Validation Efficiency 100% (41/41)
MGI Phenotype PHENOTYPE: Mice homozygous for null alleles die during organogenesis and lack blood vessels. In addition, mice homozygous for one allele lack endocardial cells, while mice homozygous for another allele lack blood cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd2 A G 7: 79,003,775 (GRCm39) S285G probably benign Het
Afg1l T C 10: 42,354,370 (GRCm39) T10A probably benign Het
Akap9 A G 5: 4,096,699 (GRCm39) N2525D possibly damaging Het
B3gnt7 G A 1: 86,233,109 (GRCm39) M1I probably null Het
Bdp1 T C 13: 100,174,269 (GRCm39) E2089G probably null Het
Calcrl T G 2: 84,198,922 (GRCm39) I156L probably benign Het
Cd69 T C 6: 129,246,543 (GRCm39) S122G probably benign Het
Chek2 T C 5: 111,003,705 (GRCm39) probably null Het
Ckap5 T A 2: 91,436,658 (GRCm39) I1586K probably damaging Het
Cyp4f14 C T 17: 33,124,483 (GRCm39) A523T probably benign Het
Dcaf1 T A 9: 106,723,971 (GRCm39) C466* probably null Het
Dcdc2a A T 13: 25,304,372 (GRCm39) probably benign Het
Eml5 T C 12: 98,842,439 (GRCm39) I220V probably benign Het
Fuz T C 7: 44,546,755 (GRCm39) probably benign Het
Git1 T G 11: 77,390,347 (GRCm39) V64G probably damaging Het
Gpr162 C T 6: 124,838,272 (GRCm39) R126H probably damaging Het
Grm5 T C 7: 87,252,131 (GRCm39) V127A probably benign Het
Iqsec1 T C 6: 90,653,750 (GRCm39) D665G probably damaging Het
Kcnh1 A G 1: 191,959,144 (GRCm39) I233V probably damaging Het
Lmcd1 C T 6: 112,287,659 (GRCm39) T115I probably damaging Het
Mybpc1 T C 10: 88,396,223 (GRCm39) E208G possibly damaging Het
Nfic C A 10: 81,256,191 (GRCm39) A158S probably benign Het
Nos3 A T 5: 24,585,241 (GRCm39) I798L probably benign Het
Ntrk1 A T 3: 87,691,288 (GRCm39) L292Q probably damaging Het
Or2ag16 A G 7: 106,351,906 (GRCm39) S230P possibly damaging Het
Orc4 T C 2: 48,817,196 (GRCm39) Q164R probably benign Het
Pcdhb14 T A 18: 37,582,745 (GRCm39) V617E probably damaging Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Plscr3 G A 11: 69,738,784 (GRCm39) E149K probably damaging Het
Pltp A G 2: 164,688,512 (GRCm39) probably null Het
Pramel11 A G 4: 143,623,472 (GRCm39) L234P probably damaging Het
Prg2 G A 2: 84,812,617 (GRCm39) R109H probably benign Het
Ptprj G A 2: 90,410,747 (GRCm39) S62F possibly damaging Het
Resf1 T A 6: 149,227,607 (GRCm39) Y218N probably damaging Het
Skint3 T A 4: 112,116,089 (GRCm39) S240T probably damaging Het
Smarca5 A G 8: 81,431,380 (GRCm39) Y946H probably damaging Het
Taf4b T C 18: 14,946,404 (GRCm39) V409A possibly damaging Het
Tafa2 A G 10: 123,540,278 (GRCm39) T45A probably benign Het
Trim29 T A 9: 43,238,409 (GRCm39) N504K probably benign Het
Vmn2r77 T C 7: 86,452,202 (GRCm39) Y461H probably damaging Het
Zeb2 T C 2: 44,887,330 (GRCm39) K531E probably damaging Het
Zfp687 A G 3: 94,916,688 (GRCm39) S813P possibly damaging Het
Other mutations in Etv2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00835:Etv2 APN 7 30,333,092 (GRCm39) missense probably benign 0.13
R0144:Etv2 UTSW 7 30,334,308 (GRCm39) missense probably benign 0.13
R0416:Etv2 UTSW 7 30,334,058 (GRCm39) missense probably benign 0.01
R6216:Etv2 UTSW 7 30,334,036 (GRCm39) critical splice donor site probably null
R6812:Etv2 UTSW 7 30,333,426 (GRCm39) nonsense probably null
R6973:Etv2 UTSW 7 30,334,167 (GRCm39) missense probably benign 0.00
R7180:Etv2 UTSW 7 30,335,074 (GRCm39) missense probably damaging 1.00
R7236:Etv2 UTSW 7 30,334,455 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- TATCCAGGCCCAGTCCTAATC -3'
(R):5'- TTAAGGTCTGTCTTCCTCGCAG -3'

Sequencing Primer
(F):5'- AGGCCCAGTCCTAATCCGTTTTG -3'
(R):5'- TGTGCTTCACAGACGCCAG -3'
Posted On 2018-11-28