Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02286:Eno2'

289985

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eno2

Ensembl Gene

ENSMUSG00000004267

Gene Name

enolase 2, gamma neuronal

Synonyms

D6Ertd375e, NSE, Eno-2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.191) question?

Stock #

IGL02286

Quality Score

Status

Chromosome

Chromosomal Location

124737018-124746489 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 124743543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 132 (R132H)

Ref Sequence

ENSEMBL: ENSMUSP00000119112 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004378] [ENSMUST00000032218] [ENSMUST00000112475] [ENSMUST00000112476] [ENSMUST00000127274] [ENSMUST00000149652] [ENSMUST00000204896] [ENSMUST00000138770] [ENSMUST00000156033] [ENSMUST00000151214] [ENSMUST00000135626]

AlphaFold

P17183

Predicted Effect

probably damaging
Transcript: ENSMUST00000004378
AA Change: R132H

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000004378
Gene: ENSMUSG00000004267
AA Change: R132H

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

probably damaging
Transcript: ENSMUST00000149652
AA Change: R132H

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000119112
Gene: ENSMUSG00000004267
AA Change: R132H

Domain	Start	End	E-Value	Type
Enolase_N	3	134	2.62e-93	SMART
Pfam:Enolase_C	142	162	4.2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204896
AA Change: R89H

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000144861
Gene: ENSMUSG00000004267
AA Change: R89H

Domain	Start	End	E-Value	Type
Enolase_N	3	91	8e-52	SMART
Enolase_C	99	388	1.3e-211	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132492

Predicted Effect

probably benign
Transcript: ENSMUST00000138770

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128701

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147004

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139763

Predicted Effect

probably benign
Transcript: ENSMUST00000156033

SMART Domains

Protein: ENSMUSP00000144698
Gene: ENSMUSG00000004267

Domain	Start	End	E-Value	Type
Enolase_N	3	58	5.2e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146712

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147307

Predicted Effect

probably benign
Transcript: ENSMUST00000151214

Predicted Effect

probably benign
Transcript: ENSMUST00000135626

SMART Domains

Protein: ENSMUSP00000114500
Gene: ENSMUSG00000004267

Domain	Start	End	E-Value	Type
Enolase_N	3	118	2.39e-55	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: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Dab1	A	G	4: 104,537,267 (GRCm39)	T187A	probably damaging	Het
Fgb	T	G	3: 82,950,633 (GRCm39)	M374L	probably benign	Het
Fgf21	T	C	7: 45,264,561 (GRCm39)	D57G	possibly damaging	Het
Gcgr	A	G	11: 120,428,757 (GRCm39)	T354A	probably damaging	Het
Gm12790	T	C	4: 101,824,918 (GRCm39)	T117A	probably benign	Het
Myo18a	C	T	11: 77,668,811 (GRCm39)	Q224*	probably null	Het
N4bp2	A	G	5: 65,960,895 (GRCm39)	Y522C	probably damaging	Het
Nt5dc3	G	A	10: 86,656,644 (GRCm39)		probably benign	Het
Or12e13	G	A	2: 87,663,592 (GRCm39)	A70T	probably damaging	Het
Ppp1r3b	C	T	8: 35,851,515 (GRCm39)	A118V	probably benign	Het
Slc37a2	C	T	9: 37,146,455 (GRCm39)	A351T	probably damaging	Het
Tlr11	T	C	14: 50,598,328 (GRCm39)	F105L	possibly damaging	Het
Vwa8	G	A	14: 79,184,713 (GRCm39)		probably null	Het
Xrra1	A	T	7: 99,563,434 (GRCm39)	I474F	possibly damaging	Het
Zfp790	A	G	7: 29,529,160 (GRCm39)	K615R	possibly damaging	Het

Other mutations in Eno2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01335:Eno2	APN	6	124,743,618 (GRCm39)	missense	probably damaging	1.00
IGL01777:Eno2	APN	6	124,743,600 (GRCm39)	missense	probably damaging	1.00
IGL02723:Eno2	APN	6	124,738,626 (GRCm39)	missense	probably damaging	1.00
IGL02883:Eno2	APN	6	124,743,172 (GRCm39)	missense	probably damaging	1.00
IGL02950:Eno2	APN	6	124,740,081 (GRCm39)	missense	probably damaging	1.00
IGL02956:Eno2	APN	6	124,740,082 (GRCm39)	missense	probably damaging	1.00
IGL03405:Eno2	APN	6	124,740,848 (GRCm39)	missense	probably benign	0.17
R0389:Eno2	UTSW	6	124,739,654 (GRCm39)	missense	probably damaging	0.96
R0488:Eno2	UTSW	6	124,740,837 (GRCm39)	missense	probably benign	0.01
R0662:Eno2	UTSW	6	124,740,774 (GRCm39)	missense	probably damaging	1.00
R2047:Eno2	UTSW	6	124,744,659 (GRCm39)	splice site	probably benign
R2081:Eno2	UTSW	6	124,740,088 (GRCm39)	missense	probably damaging	1.00
R4439:Eno2	UTSW	6	124,739,922 (GRCm39)	intron	probably benign
R4655:Eno2	UTSW	6	124,740,889 (GRCm39)	critical splice acceptor site	probably null
R4672:Eno2	UTSW	6	124,743,109 (GRCm39)	missense	probably damaging	1.00
R5308:Eno2	UTSW	6	124,744,056 (GRCm39)	missense	probably damaging	0.99
R5778:Eno2	UTSW	6	124,743,261 (GRCm39)	missense	probably damaging	1.00
R6516:Eno2	UTSW	6	124,738,672 (GRCm39)	splice site	probably null
R6520:Eno2	UTSW	6	124,744,678 (GRCm39)	missense	probably damaging	0.99
R6768:Eno2	UTSW	6	124,744,711 (GRCm39)	missense	probably damaging	1.00
R7239:Eno2	UTSW	6	124,745,228 (GRCm39)	missense	probably damaging	1.00
R7631:Eno2	UTSW	6	124,744,019 (GRCm39)	missense	probably benign	0.00
R7867:Eno2	UTSW	6	124,740,137 (GRCm39)	missense	probably damaging	1.00
R7898:Eno2	UTSW	6	124,744,225 (GRCm39)	splice site	probably null
R8346:Eno2	UTSW	6	124,740,758 (GRCm39)	missense	possibly damaging	0.49
R9036:Eno2	UTSW	6	124,740,091 (GRCm39)	missense	possibly damaging	0.92

Posted On

2015-04-16