Incidental Mutation 'R5407:Evx2'
ID 426316
Institutional Source Beutler Lab
Gene Symbol Evx2
Ensembl Gene ENSMUSG00000001815
Gene Name even-skipped homeobox 2
Synonyms Evx-2
Accession Numbers
Essential gene? Probably essential (E-score: 0.920) question?
Stock # R5407 (G1)
Quality Score 219
Status Not validated
Chromosome 2
Chromosomal Location 74483335-74489901 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74488170 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 217 (S217P)
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: S216P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000001867
Gene: ENSMUSG00000001815
AA Change: S216P

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: S217P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134131
Gene: ENSMUSG00000001815
AA Change: S217P

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: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 T C 4: 144,396,895 (GRCm39) K279R probably benign Het
Aldoart2 A C 12: 55,612,981 (GRCm39) Y302S probably damaging Het
Arpp21 G T 9: 111,945,821 (GRCm39) probably benign Het
Camk1g C T 1: 193,029,680 (GRCm39) probably null Het
Cand2 G A 6: 115,762,161 (GRCm39) V196I possibly damaging Het
Cdc25b T A 2: 131,035,567 (GRCm39) L381Q probably damaging Het
Col17a1 C T 19: 47,654,946 (GRCm39) G610E probably damaging Het
Col19a1 C T 1: 24,342,575 (GRCm39) E797K probably damaging Het
Col3a1 A T 1: 45,385,212 (GRCm39) I110L probably benign Het
Col5a2 T A 1: 45,445,440 (GRCm39) D506V possibly damaging Het
Crp A T 1: 172,525,676 (GRCm39) probably null Het
Esco1 G T 18: 10,574,886 (GRCm39) H729N probably damaging Het
Gabrb1 T C 5: 72,279,364 (GRCm39) V303A possibly damaging Het
Gcnt3 A G 9: 69,941,471 (GRCm39) Y366H probably benign Het
Gmpr2 A G 14: 55,915,733 (GRCm39) T304A possibly damaging Het
Golga3 C T 5: 110,349,856 (GRCm39) Q656* probably null Het
Gramd1b T A 9: 40,366,951 (GRCm39) M6L probably damaging Het
Kif17 T C 4: 138,025,532 (GRCm39) Y945H probably damaging Het
Klhl18 G C 9: 110,265,195 (GRCm39) N335K possibly damaging Het
Lrrk1 T A 7: 65,920,545 (GRCm39) Q1486L probably benign Het
Mboat7 G T 7: 3,694,380 (GRCm39) H72N probably damaging Het
Med12l G A 3: 59,165,622 (GRCm39) V1447M probably damaging Het
Mrpl3 T C 9: 104,954,294 (GRCm39) F333L probably benign Het
Nav3 T C 10: 109,702,796 (GRCm39) T246A probably benign Het
Neil3 A T 8: 54,054,054 (GRCm39) V325E probably benign Het
Nlrp4g A T 9: 124,349,930 (GRCm38) noncoding transcript Het
Onecut1 C T 9: 74,796,738 (GRCm39) S419F probably damaging Het
Or10n1 A T 9: 39,524,991 (GRCm39) I43F probably damaging Het
Ptp4a1 A T 1: 30,984,044 (GRCm39) V58E probably benign Het
Radil C T 5: 142,493,970 (GRCm39) R49H probably damaging Het
Ralgapa1 T C 12: 55,723,582 (GRCm39) E1648G possibly damaging Het
Rnft2 C T 5: 118,380,567 (GRCm39) M13I probably damaging Het
Satb2 A G 1: 56,987,309 (GRCm39) L92P probably damaging Het
Scn4a T C 11: 106,211,715 (GRCm39) Y1434C probably damaging Het
Setx T A 2: 29,035,486 (GRCm39) M657K probably benign Het
Shd A G 17: 56,280,936 (GRCm39) E204G probably damaging Het
Shh T A 5: 28,671,578 (GRCm39) R62* probably null Het
Slc9a4 A G 1: 40,646,954 (GRCm39) T483A probably benign Het
Tbc1d7 A C 13: 43,308,178 (GRCm39) S96A probably benign Het
Tfcp2 T C 15: 100,425,755 (GRCm39) probably null Het
Tlk2 T A 11: 105,131,201 (GRCm39) S182R probably damaging Het
Tppp2 A G 14: 52,156,955 (GRCm39) probably null Het
Trim65 T C 11: 116,016,906 (GRCm39) T519A probably benign Het
Trio T C 15: 27,844,892 (GRCm39) probably null Het
Usf3 G A 16: 44,037,769 (GRCm39) V750I probably benign Het
Utrn T A 10: 12,556,369 (GRCm39) K1480N probably damaging Het
Vmn1r58 T A 7: 5,413,872 (GRCm39) R119S probably benign Het
Xirp2 A G 2: 67,341,313 (GRCm39) I1185V probably benign Het
Zc3h7b A G 15: 81,670,092 (GRCm39) H654R probably damaging Het
Zfyve16 G T 13: 92,636,792 (GRCm39) A1306E probably 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
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'- GACAAAACCCGGTGGATTTC -3'
(R):5'- GTTTGCTAGGGTACACGGAG -3'

Sequencing Primer
(F):5'- GGATTTCCACACCGATTTCTCAC -3'
(R):5'- ACCACGACGTCGGCTTC -3'
Posted On 2016-09-01