Incidental Mutation 'IGL02883:Eno2'
ID362877
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eno2
Ensembl Gene ENSMUSG00000004267
Gene Nameenolase 2, gamma neuronal
SynonymsNSE, Eno-2, D6Ertd375e
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.255) question?
Stock #IGL02883
Quality Score
Status
Chromosome6
Chromosomal Location124760053-124769673 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 124766209 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glycine at position 188 (V188G)
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: V188G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000004378
Gene: ENSMUSG00000004267
AA Change: V188G

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 probably benign
Transcript: ENSMUST00000112476
SMART Domains Protein: ENSMUSP00000108095
Gene: ENSMUSG00000004267

DomainStartEndE-ValueType
Enolase_N 3 118 2.39e-55 SMART
Enolase_C 71 312 9.08e-120 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125436
Predicted Effect probably benign
Transcript: ENSMUST00000127274
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128598
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128701
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132492
Predicted Effect probably benign
Transcript: ENSMUST00000135626
SMART Domains Protein: ENSMUSP00000114500
Gene: ENSMUSG00000004267

DomainStartEndE-ValueType
Enolase_N 3 118 2.39e-55 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000138770
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139763
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146712
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147004
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147307
Predicted Effect probably benign
Transcript: ENSMUST00000149652
SMART Domains Protein: ENSMUSP00000119112
Gene: ENSMUSG00000004267

DomainStartEndE-ValueType
Enolase_N 3 134 2.62e-93 SMART
Pfam:Enolase_C 142 162 4.2e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000151214
Predicted Effect probably benign
Transcript: ENSMUST00000156033
SMART Domains Protein: ENSMUSP00000144698
Gene: ENSMUSG00000004267

DomainStartEndE-ValueType
Enolase_N 3 58 5.2e-13 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000204896
AA Change: V145G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000144861
Gene: ENSMUSG00000004267
AA Change: V145G

DomainStartEndE-ValueType
Enolase_N 3 91 8e-52 SMART
Enolase_C 99 388 1.3e-211 SMART
Coding Region Coverage
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik C A 19: 3,716,972 S186R possibly damaging Het
Acap2 A G 16: 31,096,345 probably benign Het
Cacna1h G T 17: 25,380,532 R1726S probably damaging Het
Cdca2 T C 14: 67,707,497 S133G probably damaging Het
Cep295nl A T 11: 118,333,909 S36R probably benign Het
Crispld1 A G 1: 17,746,789 N190S possibly damaging Het
Crtam A G 9: 40,994,501 V44A probably benign Het
Crtc1 C T 8: 70,406,125 G112S probably benign Het
Cyp17a1 T C 19: 46,669,351 N254S probably benign Het
Dmrta1 T C 4: 89,688,774 S156P probably benign Het
Fam20a A T 11: 109,675,127 I427N probably damaging Het
Fat2 T C 11: 55,256,618 K3933E probably benign Het
Gm15448 A G 7: 3,822,180 S488P possibly damaging Het
Igkv8-30 T C 6: 70,117,617 M1V probably null Het
Ist1 G A 8: 109,683,668 probably benign Het
Kank4 T C 4: 98,773,453 E765G possibly damaging Het
Kat14 T C 2: 144,393,529 L92S probably damaging Het
Kcnu1 G A 8: 25,849,827 V58I probably benign Het
Lrba T A 3: 86,445,413 I1956N probably damaging Het
Lrba T A 3: 86,354,206 V1489E probably damaging Het
Mdn1 G A 4: 32,763,199 V5100I probably benign Het
Mkrn2os C A 6: 115,586,709 G122* probably null Het
Nme3 T C 17: 24,896,906 Y78H probably benign Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Ppp2r5c T G 12: 110,522,563 V56G possibly damaging Het
Pramef25 T C 4: 143,949,848 T229A possibly damaging Het
Prdm10 G A 9: 31,327,348 V179M probably damaging Het
Rab11fip2 A G 19: 59,906,998 V344A probably damaging Het
Selp G A 1: 164,130,102 A267T probably benign Het
Sf3a1 T A 11: 4,179,192 W718R probably damaging Het
Taar9 T C 10: 24,109,480 N19D probably benign Het
Tas2r113 T G 6: 132,893,419 S137A probably damaging Het
Traf4 A T 11: 78,161,621 I66N possibly damaging Het
Ucp3 A T 7: 100,480,642 T164S probably benign Het
Uggt1 A T 1: 36,177,615 N96K probably benign Het
Uqcc1 T A 2: 155,911,829 Q42L possibly damaging Het
Vmn1r128 A G 7: 21,349,515 K48R probably benign 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
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
R7239:Eno2 UTSW 6 124768265 missense probably damaging 1.00
R7631:Eno2 UTSW 6 124767056 missense probably benign 0.00
R7867:Eno2 UTSW 6 124763174 missense probably damaging 1.00
R7950:Eno2 UTSW 6 124763174 missense probably damaging 1.00
Posted On2015-12-18