Incidental Mutation 'R7239:Eno2'
ID563071
Institutional Source Beutler Lab
Gene Symbol Eno2
Ensembl Gene ENSMUSG00000004267
Gene Nameenolase 2, gamma neuronal
SynonymsNSE, Eno-2, D6Ertd375e
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.243) question?
Stock #R7239 (G1)
Quality Score225.009
Status Not validated
Chromosome6
Chromosomal Location124760053-124769673 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 124768265 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 20 (V20M)
Ref Sequence ENSEMBL: ENSMUSP00000004378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004378] [ENSMUST00000032218] [ENSMUST00000112475] [ENSMUST00000112476] [ENSMUST00000127274] [ENSMUST00000135626] [ENSMUST00000138770] [ENSMUST00000149652] [ENSMUST00000151214] [ENSMUST00000156033] [ENSMUST00000204896]
Predicted Effect probably damaging
Transcript: ENSMUST00000004378
AA Change: V20M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000004378
Gene: ENSMUSG00000004267
AA Change: V20M

DomainStartEndE-ValueType
Enolase_N 3 134 2.62e-93 SMART
Enolase_C 142 431 2.62e-207 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000032218
SMART Domains Protein: ENSMUSP00000032218
Gene: ENSMUSG00000030125

DomainStartEndE-ValueType
coiled coil region 12 40 N/A INTRINSIC
Pfam:LRR_1 89 109 1.2e-2 PFAM
LRR 196 217 1.33e2 SMART
LRR 218 239 4.97e0 SMART
LRR 241 263 3.27e1 SMART
low complexity region 305 314 N/A INTRINSIC
low complexity region 323 332 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112475
SMART Domains Protein: ENSMUSP00000108094
Gene: ENSMUSG00000030125

DomainStartEndE-ValueType
coiled coil region 12 40 N/A INTRINSIC
internal_repeat_1 90 182 7.1e-5 PROSPERO
LRR 196 217 1.33e2 SMART
LRR 218 239 4.97e0 SMART
LRR 241 263 3.27e1 SMART
low complexity region 305 314 N/A INTRINSIC
low complexity region 323 332 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000112476
AA Change: V20M
SMART Domains Protein: ENSMUSP00000108095
Gene: ENSMUSG00000004267
AA Change: V20M

DomainStartEndE-ValueType
Enolase_N 3 118 2.39e-55 SMART
Enolase_C 71 312 9.08e-120 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000127274
AA Change: V20M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000135626
AA Change: V20M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114500
Gene: ENSMUSG00000004267
AA Change: V20M

DomainStartEndE-ValueType
Enolase_N 3 118 2.39e-55 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000138770
AA Change: V20M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000149652
AA Change: V20M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119112
Gene: ENSMUSG00000004267
AA Change: V20M

DomainStartEndE-ValueType
Enolase_N 3 134 2.62e-93 SMART
Pfam:Enolase_C 142 162 4.2e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000151214
AA Change: V20M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000156033
AA Change: V20M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144698
Gene: ENSMUSG00000004267
AA Change: V20M

DomainStartEndE-ValueType
Enolase_N 3 58 5.2e-13 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000204896
AA Change: V20M

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000144861
Gene: ENSMUSG00000004267
AA Change: V20M

DomainStartEndE-ValueType
Enolase_N 3 91 8e-52 SMART
Enolase_C 99 388 1.3e-211 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the three enolase isoenzymes found in mammals. This isoenzyme, a homodimer, is found in mature neurons and cells of neuronal origin. A switch from alpha enolase to gamma enolase occurs in neural tissue during development in rats and primates. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510009E07Rik A G 16: 21,653,518 V144A probably damaging Het
4930402H24Rik C A 2: 130,806,788 R258L unknown Het
Abca5 A T 11: 110,326,704 Y109N possibly damaging Het
Abcb5 T C 12: 118,928,725 Q433R probably benign Het
Adgrv1 T C 13: 81,476,612 D3746G possibly damaging Het
Arhgap29 C T 3: 121,988,950 S159L probably benign Het
Arhgap5 T A 12: 52,517,376 C377S probably benign Het
Atp1a3 G A 7: 25,000,704 P77L probably damaging Het
B4galt1 T C 4: 40,812,754 D257G probably damaging Het
Bin1 T A 18: 32,406,171 N52K probably damaging Het
Catsperg2 A G 7: 29,710,082 M562T probably benign Het
Ccdc33 G A 9: 58,032,909 Q713* probably null Het
Cd96 A T 16: 46,109,114 L156Q probably damaging Het
Clpb A G 7: 101,711,455 T231A probably damaging Het
Dnmt3a A T 12: 3,872,850 Q151L probably benign Het
Dock2 C T 11: 34,231,677 V1629M probably benign Het
Edem1 G A 6: 108,854,380 D601N probably benign Het
Esp36 T C 17: 38,417,241 R93G possibly damaging Het
Fam227a A G 15: 79,634,062 probably null Het
Fat4 C A 3: 38,983,840 H3880Q possibly damaging Het
Fbxw24 A T 9: 109,605,530 V334E possibly damaging Het
Flrt1 T C 19: 7,095,964 Q406R probably benign Het
Frmpd2 A G 14: 33,552,077 N1092S probably benign Het
Gm904 C A 13: 50,645,251 T82K probably benign Het
Gnas G C 2: 174,298,615 G252R unknown Het
Gpatch2l A G 12: 86,260,575 probably null Het
Hist1h2ac A T 13: 23,683,610 I103N probably damaging Het
Ift74 T C 4: 94,652,950 V204A probably benign Het
Ikzf4 A G 10: 128,641,244 L119P probably damaging Het
Ing3 G A 6: 21,952,194 E56K probably damaging Het
Klhl25 T C 7: 75,866,768 I474T probably benign Het
Klhl5 T C 5: 65,161,186 V556A probably damaging Het
Krt14 A T 11: 100,204,255 M382K probably benign Het
Lmcd1 T C 6: 112,315,784 V199A possibly damaging Het
Lpcat4 T A 2: 112,242,707 F200I possibly damaging Het
Lrp1b T C 2: 41,004,713 T2282A Het
Lrrk1 T C 7: 66,262,155 T1886A probably benign Het
Mki67 C T 7: 135,700,176 R1043K possibly damaging Het
Myct1 G T 10: 5,604,601 R156L possibly damaging Het
Nckap5l G T 15: 99,426,209 H804Q probably damaging Het
Ndst3 T G 3: 123,606,906 E450D probably damaging Het
Nipbl A T 15: 8,292,135 probably null Het
Npy A G 6: 49,823,607 N4D probably benign Het
Olfr855 A T 9: 19,585,191 Y218F probably damaging Het
Osgin2 T C 4: 16,008,748 S18G probably benign Het
Pcdha9 T G 18: 36,998,498 F207V probably benign Het
Pcdhb13 A T 18: 37,444,644 I692F probably damaging Het
Pde3b T A 7: 114,416,149 V200E probably damaging Het
Ppp6r3 A T 19: 3,493,981 L345I probably benign Het
Psd2 G A 18: 35,980,419 A315T probably damaging Het
Rnf111 G A 9: 70,469,373 T328I probably damaging Het
Rnf213 T C 11: 119,458,788 L3825P Het
Rtl1 C T 12: 109,592,475 V977I probably benign Het
Slc25a2 G T 18: 37,637,695 N260K probably benign Het
Sprtn T C 8: 124,900,244 V121A probably damaging Het
Ssx2ip T G 3: 146,428,016 L260W probably damaging Het
Syde1 G A 10: 78,588,781 R406C probably damaging Het
Tab1 A G 15: 80,133,171 R6G probably benign Het
Tenm4 G A 7: 96,553,496 R106H probably benign Het
Tenm4 G A 7: 96,735,813 V526I possibly damaging Het
Tfap2b T C 1: 19,234,180 F405L probably damaging Het
Trbv13-1 C A 6: 41,116,391 T87K probably benign Het
Trmt44 G T 5: 35,574,786 A87E probably benign Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,399,157 probably null Het
Ttn T C 2: 76,787,290 D16279G probably damaging Het
Ttn G A 2: 76,881,328 R8290C unknown Het
Ugt2b37 T A 5: 87,254,731 I14L probably benign Het
Vmn1r13 A T 6: 57,210,626 M257L probably benign Het
Vmn1r184 C T 7: 26,267,177 P116L possibly damaging Het
Zfp426 T C 9: 20,470,591 T367A probably benign Het
Zfp647 A T 15: 76,911,756 C235S probably damaging Het
Other mutations in Eno2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01335:Eno2 APN 6 124766655 missense probably damaging 1.00
IGL01777:Eno2 APN 6 124766637 missense probably damaging 1.00
IGL02286:Eno2 APN 6 124766580 missense probably damaging 0.98
IGL02723:Eno2 APN 6 124761663 missense probably damaging 1.00
IGL02883:Eno2 APN 6 124766209 missense probably damaging 1.00
IGL02950:Eno2 APN 6 124763118 missense probably damaging 1.00
IGL02956:Eno2 APN 6 124763119 missense probably damaging 1.00
IGL03405:Eno2 APN 6 124763885 missense probably benign 0.17
R0389:Eno2 UTSW 6 124762691 missense probably damaging 0.96
R0488:Eno2 UTSW 6 124763874 missense probably benign 0.01
R0662:Eno2 UTSW 6 124763811 missense probably damaging 1.00
R2047:Eno2 UTSW 6 124767696 splice site probably benign
R2081:Eno2 UTSW 6 124763125 missense probably damaging 1.00
R4439:Eno2 UTSW 6 124762959 intron probably benign
R4655:Eno2 UTSW 6 124763926 critical splice acceptor site probably null
R4672:Eno2 UTSW 6 124766146 missense probably damaging 1.00
R5308:Eno2 UTSW 6 124767093 missense probably damaging 0.99
R5778:Eno2 UTSW 6 124766298 missense probably damaging 1.00
R6516:Eno2 UTSW 6 124761709 splice site probably null
R6520:Eno2 UTSW 6 124767715 missense probably damaging 0.99
R6768:Eno2 UTSW 6 124767748 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAGACTCACCGAGCCTGAATC -3'
(R):5'- TACAGTGCCTGATTGCAGCC -3'

Sequencing Primer
(F):5'- GAGCCTGAATCCACGAGC -3'
(R):5'- ACTGCAGTAACCTCTTTGCCAG -3'
Posted On2019-06-26