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: 0.919) question?
Stock # R1608 (G1)
Quality Score 112
Status Not validated
Chromosome 2
Chromosomal Location 74652991-74659557 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 74657851 bp (GRCm38)
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: 30,902,479 S797P probably damaging Het
Akap9 T C 5: 3,961,783 Y829H probably damaging Het
Anp32a A G 9: 62,372,093 D74G probably damaging Het
B230118H07Rik T C 2: 101,610,571 E29G probably damaging Het
B3gat1 T C 9: 26,751,816 I13T probably damaging Het
Cbfa2t3 A T 8: 122,647,709 V99D probably damaging Het
Celsr2 C T 3: 108,402,483 C1600Y probably damaging Het
Ddx31 T A 2: 28,859,066 N291K probably damaging Het
Dennd1a T G 2: 37,852,434 M3L probably benign Het
Dnah12 C T 14: 26,766,190 P1017L probably damaging Het
Dnajc6 A T 4: 101,599,167 D86V probably damaging Het
F13a1 A G 13: 36,868,811 V718A probably damaging Het
Fcho2 T C 13: 98,726,198 D757G probably benign Het
Fmnl2 A G 2: 53,105,537 E424G probably damaging Het
Fryl C T 5: 73,074,751 W424* probably null Het
Gata3 G T 2: 9,874,768 Y97* probably null Het
Gm15446 T A 5: 109,942,457 C192S probably damaging Het
Hdac10 A T 15: 89,125,318 D470E probably benign Het
Ier2 A G 8: 84,662,426 L109P probably benign Het
Kcnh2 T C 5: 24,322,219 T559A probably benign Het
Khk C T 5: 30,930,594 A204V probably damaging Het
Kndc1 T A 7: 139,927,408 M1169K possibly damaging Het
Krtap31-1 A G 11: 99,908,093 S41G probably benign Het
Nabp1 T C 1: 51,473,003 probably null Het
Nphp3 A G 9: 104,035,840 D939G probably benign Het
Olfr513 A T 7: 108,755,102 N82I probably damaging Het
Plcg2 T C 8: 117,614,235 I1089T possibly damaging Het
Ptk2 A T 15: 73,262,575 D558E probably damaging Het
Serpinb6d A G 13: 33,669,129 D168G probably benign Het
Shisa8 G A 15: 82,208,555 P189L probably damaging Het
Shkbp1 A G 7: 27,354,779 V89A probably benign Het
Slc40a1 C T 1: 45,911,297 A332T probably damaging Het
Slc44a3 A T 3: 121,497,847 Y373* probably null Het
Slf2 T C 19: 44,949,001 V722A probably benign Het
Spanxn4 A G 12: 62,687,838 noncoding transcript Het
Stag3 T A 5: 138,298,639 probably null Het
Tanc1 T C 2: 59,797,694 I612T possibly damaging Het
Thbs2 T A 17: 14,685,781 M286L probably benign Het
Top1 T A 2: 160,703,595 N294K probably benign Het
Tpr T G 1: 150,426,893 L1381V probably damaging Het
Trpm8 T G 1: 88,326,432 S126A probably benign Het
Ttc41 A G 10: 86,775,993 Y1075C probably damaging Het
Ubox5 C T 2: 130,597,456 G418D probably benign Het
Vmn1r67 T C 7: 10,446,980 V57A possibly damaging Het
Zbtb5 T C 4: 44,993,500 H628R probably damaging Het
Zfp810 T C 9: 22,278,920 I231V probably benign Het
Other mutations in Evx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0133:Evx2 UTSW 2 74659082 missense possibly damaging 0.93
R0195:Evx2 UTSW 2 74659044 missense probably damaging 1.00
R0549:Evx2 UTSW 2 74659134 missense probably benign
R0610:Evx2 UTSW 2 74655987 missense probably benign 0.16
R0645:Evx2 UTSW 2 74657894 missense possibly damaging 0.81
R1769:Evx2 UTSW 2 74659157 missense probably benign 0.00
R2156:Evx2 UTSW 2 74656016 missense probably damaging 1.00
R2383:Evx2 UTSW 2 74658049 critical splice acceptor site probably null
R4849:Evx2 UTSW 2 74659331 missense probably benign 0.34
R5407:Evx2 UTSW 2 74657826 missense probably damaging 1.00
R6167:Evx2 UTSW 2 74659262 missense probably damaging 0.96
R6704:Evx2 UTSW 2 74656155 missense probably damaging 1.00
R7447:Evx2 UTSW 2 74659104 missense probably benign 0.00
R8394:Evx2 UTSW 2 74655977 missense probably benign 0.05
R8757:Evx2 UTSW 2 74655882 missense probably benign 0.09
R9217:Evx2 UTSW 2 74657765 critical splice donor site probably null
X0017:Evx2 UTSW 2 74657792 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