Incidental Mutation 'R6704:Evx2'
ID 528848
Institutional Source Beutler Lab
Gene Symbol Evx2
Ensembl Gene ENSMUSG00000001815
Gene Name even-skipped homeobox 2
Synonyms Evx-2
MMRRC Submission 044822-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.920) question?
Stock # R6704 (G1)
Quality Score 136.008
Status Not validated
Chromosome 2
Chromosomal Location 74483335-74489901 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 74486499 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 297 (A297S)
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: A296S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000001867
Gene: ENSMUSG00000001815
AA Change: A296S

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: A297S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000134131
Gene: ENSMUSG00000001815
AA Change: A297S

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: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 94.0%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apob T C 12: 8,060,379 (GRCm39) S2921P probably damaging Het
Asxl3 G A 18: 22,650,362 (GRCm39) A784T probably benign Het
Atm T C 9: 53,370,153 (GRCm39) I2320V probably benign Het
Ccdc152 T A 15: 3,310,195 (GRCm39) I227F probably damaging Het
Cd109 T C 9: 78,587,357 (GRCm39) V675A probably benign Het
Col3a1 T C 1: 45,386,892 (GRCm39) Y235H probably damaging Het
Dnmbp T C 19: 43,889,652 (GRCm39) D705G probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Ermn T C 2: 57,938,046 (GRCm39) D189G possibly damaging Het
Fat1 T C 8: 45,477,410 (GRCm39) F2152S probably damaging Het
Fndc1 A G 17: 7,990,642 (GRCm39) V1018A unknown Het
Hyou1 T C 9: 44,292,431 (GRCm39) probably null Het
Kcnma1 G A 14: 24,052,882 (GRCm39) Q187* probably null Het
Macf1 C T 4: 123,304,555 (GRCm39) probably benign Het
Mcam T A 9: 44,048,217 (GRCm39) D124E probably benign Het
Mical3 T C 6: 120,986,761 (GRCm39) probably benign Het
Mlxipl A T 5: 135,166,094 (GRCm39) probably null Het
Myt1 A G 2: 181,453,005 (GRCm39) M1V probably null Het
Nlrc3 C T 16: 3,782,945 (GRCm39) V155I probably damaging Het
Nlrp2 A C 7: 5,328,040 (GRCm39) L671* probably null Het
Omd A G 13: 49,743,349 (GRCm39) D133G probably damaging Het
Or5h19 T C 16: 58,856,225 (GRCm39) R292G probably damaging Het
Or9r7 T A 10: 129,962,024 (GRCm39) K301* probably null Het
Pappa G A 4: 65,123,161 (GRCm39) C832Y probably damaging Het
Pcnx3 A T 19: 5,736,515 (GRCm39) V174E possibly damaging Het
Pfkl C T 10: 77,832,200 (GRCm39) G297D probably damaging Het
Polr3a A G 14: 24,511,910 (GRCm39) L882P probably damaging Het
Ptchd4 A G 17: 42,627,931 (GRCm39) T131A probably benign Het
Rad50 T C 11: 53,589,745 (GRCm39) N152S probably damaging Het
Ruvbl1 T A 6: 88,456,187 (GRCm39) M147K probably benign Het
Septin4 T A 11: 87,479,856 (GRCm39) I277N probably damaging Het
Serpini1 T C 3: 75,545,255 (GRCm39) V337A probably damaging Het
Tmem131 A G 1: 36,835,261 (GRCm39) V1620A possibly damaging Het
Tpr A G 1: 150,282,259 (GRCm39) E248G possibly damaging Het
Ugt2b36 C A 5: 87,239,990 (GRCm39) V132F probably damaging Het
Utrn T C 10: 12,621,035 (GRCm39) E212G probably damaging Het
Zc2hc1c A T 12: 85,337,258 (GRCm39) Q305L possibly damaging 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
R1608:Evx2 UTSW 2 74,488,195 (GRCm39) missense probably damaging 1.00
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
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'- TGTGACAACTGAGGCACGAG -3'
(R):5'- CCTCAAGTTAATGTGCACCCG -3'

Sequencing Primer
(F):5'- ACGCCGCGCTGTTCAAC -3'
(R):5'- CAAGTTAATGTGCACCCGGTCTG -3'
Posted On 2018-07-24