Incidental Mutation 'R0549:Evx2'
ID 45006
Institutional Source Beutler Lab
Gene Symbol Evx2
Ensembl Gene ENSMUSG00000001815
Gene Name even-skipped homeobox 2
Synonyms Evx-2
MMRRC Submission 038741-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.920) question?
Stock # R0549 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 74483335-74489901 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74489478 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 96 (T96A)
Ref Sequence ENSEMBL: ENSMUSP00000134131 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001867] [ENSMUST00000173623]
AlphaFold P49749
Predicted Effect probably benign
Transcript: ENSMUST00000001867
AA Change: T95A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000001867
Gene: ENSMUSG00000001815
AA Change: T95A

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 benign
Transcript: ENSMUST00000173623
AA Change: T96A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000134131
Gene: ENSMUSG00000001815
AA Change: T96A

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 96% (48/50)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 A G 17: 46,633,216 (GRCm39) F498L probably damaging Het
Adamts6 A T 13: 104,433,763 (GRCm39) D64V possibly damaging Het
Agbl2 T C 2: 90,620,187 (GRCm39) probably benign Het
Angptl3 A G 4: 98,919,692 (GRCm39) S151G probably benign Het
Arhgap39 C T 15: 76,619,086 (GRCm39) D833N probably damaging Het
C4b G T 17: 34,954,389 (GRCm39) L927I probably damaging Het
Ccl3 T C 11: 83,539,162 (GRCm39) T66A probably damaging Het
Cdh20 T C 1: 110,036,674 (GRCm39) L618P probably damaging Het
Cfap65 T C 1: 74,957,603 (GRCm39) T989A probably benign Het
Cfhr4 A T 1: 139,667,226 (GRCm39) D377E probably damaging Het
Cnpy4 T C 5: 138,185,899 (GRCm39) F18S possibly damaging Het
Col6a5 A G 9: 105,781,778 (GRCm39) probably benign Het
Dppa2 G A 16: 48,139,034 (GRCm39) R289H probably benign Het
Frmd4a A G 2: 4,608,778 (GRCm39) E577G possibly damaging Het
Gcgr G A 11: 120,427,387 (GRCm39) G166S probably benign Het
Gm5316 T C 6: 122,877,150 (GRCm39) noncoding transcript Het
Gria1 G A 11: 57,119,799 (GRCm39) R292Q probably damaging Het
Hars2 T A 18: 36,919,261 (GRCm39) probably null Het
Hkdc1 T A 10: 62,236,019 (GRCm39) T508S probably benign Het
Kif2b A T 11: 91,467,410 (GRCm39) I291N probably damaging Het
Lmbrd1 A T 1: 24,784,001 (GRCm39) T377S probably benign Het
Lrrc28 A G 7: 67,278,090 (GRCm39) probably benign Het
Mmp3 A T 9: 7,455,638 (GRCm39) N463I probably benign Het
Myh6 A G 14: 55,196,065 (GRCm39) F578S probably damaging Het
Ncbp1 T A 4: 46,168,476 (GRCm39) M608K possibly damaging Het
Nf1 T C 11: 79,359,597 (GRCm39) F1412L probably damaging Het
Nlrp5 T A 7: 23,141,227 (GRCm39) W1083R probably damaging Het
Nrsn1 T C 13: 25,446,241 (GRCm39) Y45C probably benign Het
Or3a1b T G 11: 74,012,301 (GRCm39) M62R probably damaging Het
Osbpl7 G T 11: 96,958,368 (GRCm39) R881L probably damaging Het
Papss1 A G 3: 131,324,974 (GRCm39) E456G possibly damaging Het
Pbxip1 T A 3: 89,350,899 (GRCm39) probably benign Het
Pcca A G 14: 122,875,789 (GRCm39) probably benign Het
Pde1a T A 2: 79,695,414 (GRCm39) N511I probably damaging Het
Prpf39 A T 12: 65,103,030 (GRCm39) I435F probably benign Het
Rnf213 C T 11: 119,355,908 (GRCm39) T4117M probably damaging Het
Sel1l2 A T 2: 140,107,802 (GRCm39) M216K probably damaging Het
Sidt2 A G 9: 45,864,417 (GRCm39) probably null Het
Sirt3 A T 7: 140,449,400 (GRCm39) probably null Het
Smpd4 T C 16: 17,457,176 (GRCm39) V378A probably benign Het
Svil T A 18: 5,064,566 (GRCm39) S642T possibly damaging Het
Tcp10a A G 17: 7,593,950 (GRCm39) K92E probably benign Het
Tmem144 T C 3: 79,730,051 (GRCm39) D233G probably damaging Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Tnik T C 3: 28,625,069 (GRCm39) S335P possibly damaging Het
Ush2a T C 1: 188,679,150 (GRCm39) L4786P probably damaging Het
Utp11 A T 4: 124,579,872 (GRCm39) probably benign Het
Vmn1r67 A G 7: 10,181,641 (GRCm39) N241D probably damaging Het
Vmn2r11 A T 5: 109,199,963 (GRCm39) C497S 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
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
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'- TGCCAGCTCTGTGAAGCACTTTAG -3'
(R):5'- GCAAGAGGTTCTCCAGTTTGTCCG -3'

Sequencing Primer
(F):5'- TTAGTTAAGAGTCAGAGACCCGC -3'
(R):5'- CCAGTTTGTCCGATTCAGC -3'
Posted On 2013-06-11