Mutagenetix > Incidental Mutation

Incidental Mutation 'R7867:Eno2'

607836

Institutional Source

Beutler Lab

Gene Symbol

Eno2

Ensembl Gene

ENSMUSG00000004267

Gene Name

enolase 2, gamma neuronal

Synonyms

D6Ertd375e, NSE, Eno-2

MMRRC Submission

045919-MU

Accession Numbers

Essential gene?

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

Stock #

R7867 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

124737018-124746489 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 124740137 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 300 (D300N)

Ref Sequence

ENSEMBL: ENSMUSP00000004378 (fasta)

Gene Model

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

AlphaFold

P17183

Predicted Effect

probably damaging
Transcript: ENSMUST00000004378
AA Change: D300N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000004378
Gene: ENSMUSG00000004267
AA Change: D300N

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 damaging
Transcript: ENSMUST00000112476
AA Change: D181N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108095
Gene: ENSMUSG00000004267
AA Change: D181N

Domain	Start	End	E-Value	Type
Enolase_N	3	118	2.39e-55	SMART
Enolase_C	71	312	9.08e-120	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127274

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

Predicted Effect

probably benign
Transcript: ENSMUST00000138770

Predicted Effect

probably benign
Transcript: ENSMUST00000149652

SMART Domains

Protein: ENSMUSP00000119112
Gene: ENSMUSG00000004267

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: ENSMUST00000151214

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

probably damaging
Transcript: ENSMUST00000204896
AA Change: D257N

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000144861
Gene: ENSMUSG00000004267
AA Change: D257N

Domain	Start	End	E-Value	Type
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: 99.7%
20x: 98.9%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,212,139 (GRCm39)		probably null	Het
Abcf1	C	A	17: 36,272,890 (GRCm39)	K252N	probably damaging	Het
Abi3	C	T	11: 95,724,851 (GRCm39)	A211T	possibly damaging	Het
Acaca	A	T	11: 84,140,350 (GRCm39)	D608V	possibly damaging	Het
Akap10	A	G	11: 61,791,272 (GRCm39)	Y396H	probably damaging	Het
Ap3b1	C	G	13: 94,619,771 (GRCm39)	S778W	unknown	Het
Arb2a	T	C	13: 78,050,837 (GRCm39)	M165T	probably benign	Het
Baat	G	A	4: 49,502,925 (GRCm39)	L66F	probably benign	Het
Cachd1	A	G	4: 100,845,759 (GRCm39)	N981S	probably damaging	Het
Cacna1c	C	T	6: 118,753,407 (GRCm39)	R243H		Het
Cdh23	T	A	10: 60,150,390 (GRCm39)	I2527F	probably damaging	Het
Cinp	A	G	12: 110,840,557 (GRCm39)	V198A	probably benign	Het
Clec4d	T	C	6: 123,244,123 (GRCm39)		probably null	Het
Cnn3	A	G	3: 121,248,704 (GRCm39)	I204V	probably benign	Het
Cpxm2	C	A	7: 131,650,800 (GRCm39)	G620V	probably damaging	Het
Ctrl	A	C	8: 106,659,497 (GRCm39)	S93A	probably benign	Het
Cyp2d34	A	G	15: 82,501,425 (GRCm39)	V301A	possibly damaging	Het
Dnaaf5	G	T	5: 139,147,565 (GRCm39)	K376N	probably damaging	Het
Entrep3	T	A	3: 89,093,083 (GRCm39)	Y280*	probably null	Het
Fam117b	T	A	1: 60,014,046 (GRCm39)	N440K	probably damaging	Het
Fam131a	A	G	16: 20,514,584 (GRCm39)	S62G	probably benign	Het
Fancm	T	A	12: 65,163,240 (GRCm39)		probably null	Het
Fancm	A	G	12: 65,165,173 (GRCm39)	D1506G	probably benign	Het
Fhad1	C	A	4: 141,632,902 (GRCm39)	V1201L	probably benign	Het
Gdpd4	T	A	7: 97,623,185 (GRCm39)	C265*	probably null	Het
Gm3127	A	T	14: 15,425,888 (GRCm39)	T98S	probably null	Het
Gpsm1	A	T	2: 26,230,448 (GRCm39)	D466V	probably benign	Het
Gramd1a	T	G	7: 30,842,992 (GRCm39)	K76Q	probably damaging	Het
Gstp3	T	C	19: 4,108,808 (GRCm39)	D24G	probably damaging	Het
Kalrn	G	A	16: 33,810,161 (GRCm39)	T2531I	possibly damaging	Het
Klk7	C	A	7: 43,462,333 (GRCm39)	D108E	probably damaging	Het
Klkb1	A	G	8: 45,740,002 (GRCm39)	S97P	probably damaging	Het
Krt13	T	C	11: 100,012,008 (GRCm39)	D105G	probably damaging	Het
Lingo2	T	A	4: 35,709,302 (GRCm39)	H226L	probably benign	Het
Lrba	T	C	3: 86,275,896 (GRCm39)	S1755P	probably damaging	Het
Marf1	A	G	16: 13,946,470 (GRCm39)	V1217A	probably damaging	Het
Mtss1	A	T	15: 58,842,858 (GRCm39)	V118E	possibly damaging	Het
Mug1	T	A	6: 121,850,593 (GRCm39)	D696E	probably benign	Het
Ndufa3	C	T	7: 3,623,003 (GRCm39)	P56L	probably damaging	Het
Nop56	T	A	2: 130,120,205 (GRCm39)	C471S	possibly damaging	Het
Obscn	T	A	11: 58,891,652 (GRCm39)	H6960L	unknown	Het
Or13a22	C	T	7: 140,073,049 (GRCm39)	T166I	probably benign	Het
Pcdhb10	A	C	18: 37,546,619 (GRCm39)	Q565P	probably benign	Het
Pde6g	T	A	11: 120,338,953 (GRCm39)	H79L	possibly damaging	Het
Phrf1	G	T	7: 140,836,524 (GRCm39)	M265I	unknown	Het
Pkd2	T	C	5: 104,630,986 (GRCm39)	F470S	probably damaging	Het
Plekhm1	T	A	11: 103,271,153 (GRCm39)	D446V	probably damaging	Het
Prkaca	A	T	8: 84,721,963 (GRCm39)	T325S	probably benign	Het
Proz	A	T	8: 13,111,027 (GRCm39)		probably benign	Het
Pten	T	C	19: 32,792,894 (GRCm39)	F238L	probably benign	Het
Ptpn21	G	A	12: 98,671,435 (GRCm39)	L198F	probably damaging	Het
Rbm5	A	T	9: 107,628,930 (GRCm39)	S394T	probably benign	Het
Scaf8	T	G	17: 3,227,994 (GRCm39)	S408A	unknown	Het
Slc41a3	T	A	6: 90,617,909 (GRCm39)	F312I	probably damaging	Het
Soat2	T	A	15: 102,059,598 (GRCm39)		probably null	Het
Sorcs1	C	A	19: 50,218,698 (GRCm39)	G595*	probably null	Het
Spopfm1	G	C	3: 94,173,154 (GRCm39)	S50T	probably benign	Het
Stox1	G	T	10: 62,500,723 (GRCm39)	D612E	probably benign	Het
Suco	T	C	1: 161,665,365 (GRCm39)	I530M	possibly damaging	Het
Syne2	A	G	12: 76,030,501 (GRCm39)		probably null	Het
Thbd	G	A	2: 148,249,664 (GRCm39)	A68V	probably damaging	Het
Tmem109	A	T	19: 10,855,466 (GRCm39)	M4K	unknown	Het
Tmub1	G	C	5: 24,651,664 (GRCm39)	P85R	possibly damaging	Het
Tnk2	A	C	16: 32,500,053 (GRCm39)	Q1039H	probably damaging	Het
Tpm3	T	C	3: 89,993,775 (GRCm39)	L89S	probably damaging	Het
Unc13b	C	T	4: 43,232,573 (GRCm39)	R432*	probably null	Het
Vmn2r59	T	A	7: 41,661,707 (GRCm39)	I703F	probably damaging	Het
Xylt1	T	A	7: 117,074,749 (GRCm39)	I122N	probably benign	Het
Zc3h12c	T	C	9: 52,055,248 (GRCm39)	E187G	probably 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
IGL02286:Eno2	APN	6	124,743,543 (GRCm39)	missense	probably damaging	0.98
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
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

Predicted Primers

PCR Primer
(F):5'- CTTGGATGGCTTCTGTGACC -3'
(R):5'- AGAAAAGTGCCAGGCTTTAGTG -3'

Sequencing Primer
(F):5'- CGAGCCGATCTGATTGACCTTG -3'
(R):5'- CGTCTCTAGGAAGAACCA -3'

Posted On

2019-12-20