Incidental Mutation 'R1608:Evx2'
ID 176606
Institutional Source Beutler Lab
Gene Symbol Evx2
Ensembl Gene ENSMUSG00000001815
Gene Name even-skipped homeobox 2
Synonyms Evx-2
MMRRC Submission 039645-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.920) question?
Stock # R1608 (G1)
Quality Score 112
Status Not validated
Chromosome 2
Chromosomal Location 74483335-74489901 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 74488195 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 208 (K208N)
Ref Sequence ENSEMBL: ENSMUSP00000134131 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001867] [ENSMUST00000173623]
AlphaFold P49749
Predicted Effect probably damaging
Transcript: ENSMUST00000001867
AA Change: K207N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000001867
Gene: ENSMUSG00000001815
AA Change: K207N

DomainStartEndE-ValueType
low complexity region 82 97 N/A INTRINSIC
low complexity region 106 111 N/A INTRINSIC
low complexity region 146 187 N/A INTRINSIC
HOX 190 252 5.66e-26 SMART
low complexity region 296 312 N/A INTRINSIC
low complexity region 348 387 N/A INTRINSIC
low complexity region 396 433 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000173623
AA Change: K208N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134131
Gene: ENSMUSG00000001815
AA Change: K208N

DomainStartEndE-ValueType
low complexity region 83 98 N/A INTRINSIC
low complexity region 107 112 N/A INTRINSIC
low complexity region 147 188 N/A INTRINSIC
HOX 191 253 5.66e-26 SMART
low complexity region 297 313 N/A INTRINSIC
low complexity region 349 388 N/A INTRINSIC
low complexity region 397 434 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 89.7%
Validation Efficiency
MGI Phenotype FUNCTION: This gene is located at the 5' end of the Hoxd gene cluster on chromosome 2. The encoded protein is a homeobox transcription factor that is related to the protein encoded by the Drosophila even-skipped (eve) gene, a member of the pair-rule class of segmentation genes. The encoded protein plays a role in limb morphogenesis. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body weight, male infertility, short limbs, and abnormalities in phalanx, carpal bone and metacarpal bone morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts15 A G 9: 30,813,775 (GRCm39) S797P probably damaging Het
Akap9 T C 5: 4,011,783 (GRCm39) Y829H probably damaging Het
Anp32a A G 9: 62,279,375 (GRCm39) D74G probably damaging Het
B3gat1 T C 9: 26,663,112 (GRCm39) I13T probably damaging Het
Cbfa2t3 A T 8: 123,374,448 (GRCm39) V99D probably damaging Het
Celsr2 C T 3: 108,309,799 (GRCm39) C1600Y probably damaging Het
Ddx31 T A 2: 28,749,078 (GRCm39) N291K probably damaging Het
Dennd1a T G 2: 37,742,446 (GRCm39) M3L probably benign Het
Dnah12 C T 14: 26,488,147 (GRCm39) P1017L probably damaging Het
Dnajc6 A T 4: 101,456,364 (GRCm39) D86V probably damaging Het
F13a1 A G 13: 37,052,785 (GRCm39) V718A probably damaging Het
Fcho2 T C 13: 98,862,706 (GRCm39) D757G probably benign Het
Fmnl2 A G 2: 52,995,549 (GRCm39) E424G probably damaging Het
Fryl C T 5: 73,232,094 (GRCm39) W424* probably null Het
Gata3 G T 2: 9,879,579 (GRCm39) Y97* probably null Het
Gm15446 T A 5: 110,090,323 (GRCm39) C192S probably damaging Het
Hdac10 A T 15: 89,009,521 (GRCm39) D470E probably benign Het
Ier2 A G 8: 85,389,055 (GRCm39) L109P probably benign Het
Iftap T C 2: 101,440,916 (GRCm39) E29G probably damaging Het
Kcnh2 T C 5: 24,527,217 (GRCm39) T559A probably benign Het
Khk C T 5: 31,087,938 (GRCm39) A204V probably damaging Het
Kndc1 T A 7: 139,507,321 (GRCm39) M1169K possibly damaging Het
Krtap31-1 A G 11: 99,798,919 (GRCm39) S41G probably benign Het
Nabp1 T C 1: 51,512,162 (GRCm39) probably null Het
Nphp3 A G 9: 103,913,039 (GRCm39) D939G probably benign Het
Or5e1 A T 7: 108,354,309 (GRCm39) N82I probably damaging Het
Plcg2 T C 8: 118,340,974 (GRCm39) I1089T possibly damaging Het
Ptk2 A T 15: 73,134,424 (GRCm39) D558E probably damaging Het
Serpinb6d A G 13: 33,853,112 (GRCm39) D168G probably benign Het
Shisa8 G A 15: 82,092,756 (GRCm39) P189L probably damaging Het
Shkbp1 A G 7: 27,054,204 (GRCm39) V89A probably benign Het
Slc40a1 C T 1: 45,950,457 (GRCm39) A332T probably damaging Het
Slc44a3 A T 3: 121,291,496 (GRCm39) Y373* probably null Het
Slf2 T C 19: 44,937,440 (GRCm39) V722A probably benign Het
Spanxn4 A G 12: 62,734,624 (GRCm39) noncoding transcript Het
Stag3 T A 5: 138,296,901 (GRCm39) probably null Het
Tanc1 T C 2: 59,628,038 (GRCm39) I612T possibly damaging Het
Thbs2 T A 17: 14,906,043 (GRCm39) M286L probably benign Het
Top1 T A 2: 160,545,515 (GRCm39) N294K probably benign Het
Tpr T G 1: 150,302,644 (GRCm39) L1381V probably damaging Het
Trpm8 T G 1: 88,254,154 (GRCm39) S126A probably benign Het
Ttc41 A G 10: 86,611,857 (GRCm39) Y1075C probably damaging Het
Ubox5 C T 2: 130,439,376 (GRCm39) G418D probably benign Het
Vmn1r67 T C 7: 10,180,907 (GRCm39) V57A possibly damaging Het
Zbtb5 T C 4: 44,993,500 (GRCm39) H628R probably damaging Het
Zfp810 T C 9: 22,190,216 (GRCm39) I231V probably benign Het
Other mutations in Evx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0133:Evx2 UTSW 2 74,489,426 (GRCm39) missense possibly damaging 0.93
R0195:Evx2 UTSW 2 74,489,388 (GRCm39) missense probably damaging 1.00
R0549:Evx2 UTSW 2 74,489,478 (GRCm39) missense probably benign
R0610:Evx2 UTSW 2 74,486,331 (GRCm39) missense probably benign 0.16
R0645:Evx2 UTSW 2 74,488,238 (GRCm39) missense possibly damaging 0.81
R1769:Evx2 UTSW 2 74,489,501 (GRCm39) missense probably benign 0.00
R2156:Evx2 UTSW 2 74,486,360 (GRCm39) missense probably damaging 1.00
R2383:Evx2 UTSW 2 74,488,393 (GRCm39) critical splice acceptor site probably null
R4849:Evx2 UTSW 2 74,489,675 (GRCm39) missense probably benign 0.34
R5407:Evx2 UTSW 2 74,488,170 (GRCm39) missense probably damaging 1.00
R6167:Evx2 UTSW 2 74,489,606 (GRCm39) missense probably damaging 0.96
R6704:Evx2 UTSW 2 74,486,499 (GRCm39) missense probably damaging 1.00
R7447:Evx2 UTSW 2 74,489,448 (GRCm39) missense probably benign 0.00
R8394:Evx2 UTSW 2 74,486,321 (GRCm39) missense probably benign 0.05
R8757:Evx2 UTSW 2 74,486,226 (GRCm39) missense probably benign 0.09
R9217:Evx2 UTSW 2 74,488,109 (GRCm39) critical splice donor site probably null
X0017:Evx2 UTSW 2 74,488,136 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGGTGGATTTCCACACCGATTTCTC -3'
(R):5'- ACAGCGACTTTCCTTCTCAAAGCC -3'

Sequencing Primer
(F):5'- GATTTCTCACCACCCAGAAGG -3'
(R):5'- CAACTCAGGGTTCTCGGTC -3'
Posted On 2014-04-24