Mutagenetix > Incidental Mutation

Incidental Mutation 'R4458:Egr2'

330022

Institutional Source

Beutler Lab

Gene Symbol

Egr2

Ensembl Gene

ENSMUSG00000037868

Gene Name

early growth response 2

Synonyms

Krox-20, Krox20, NGF1-B, Zfp-25, Egr-2

MMRRC Submission

041718-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4458 (G1)

Quality Score

217

Status

Not validated

Chromosome

Chromosomal Location

67371305-67378018 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

GAA to GA at 67375733 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118941 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048289] [ENSMUST00000075686] [ENSMUST00000105438] [ENSMUST00000127820] [ENSMUST00000130933] [ENSMUST00000145754] [ENSMUST00000145936] [ENSMUST00000146986]

AlphaFold

P08152

Predicted Effect

probably null
Transcript: ENSMUST00000048289
AA Change: 110

SMART Domains

Protein: ENSMUSP00000041053
Gene: ENSMUSG00000037868
AA Change: 110

Domain	Start	End	E-Value	Type
Pfam:DUF3446	94	184	2.5e-26	PFAM
low complexity region	190	217	N/A	INTRINSIC
low complexity region	272	298	N/A	INTRINSIC
low complexity region	312	321	N/A	INTRINSIC
ZnF_C2H2	337	361	1.06e-4	SMART
ZnF_C2H2	367	389	2.91e-2	SMART
ZnF_C2H2	395	417	1.45e-2	SMART
low complexity region	425	449	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000075686

SMART Domains

Protein: ENSMUSP00000075107
Gene: ENSMUSG00000057134

Domain	Start	End	E-Value	Type
Pfam:DUF1637	45	254	2.7e-68	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000105438

SMART Domains

Protein: ENSMUSP00000101078
Gene: ENSMUSG00000037868

Domain	Start	End	E-Value	Type
Pfam:DUF3446	44	134	1.3e-27	PFAM
low complexity region	140	167	N/A	INTRINSIC
low complexity region	222	248	N/A	INTRINSIC
low complexity region	262	271	N/A	INTRINSIC
ZnF_C2H2	287	311	1.06e-4	SMART
ZnF_C2H2	317	339	2.91e-2	SMART
ZnF_C2H2	345	367	1.45e-2	SMART
low complexity region	375	399	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000127820

SMART Domains

Protein: ENSMUSP00000116799
Gene: ENSMUSG00000037868

Domain	Start	End	E-Value	Type
Pfam:DUF3446	36	126	1.3e-27	PFAM
low complexity region	132	159	N/A	INTRINSIC
low complexity region	214	240	N/A	INTRINSIC
low complexity region	254	263	N/A	INTRINSIC
ZnF_C2H2	279	303	1.06e-4	SMART
ZnF_C2H2	309	331	2.91e-2	SMART
ZnF_C2H2	337	359	1.45e-2	SMART
low complexity region	367	391	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000130933

Predicted Effect

probably null
Transcript: ENSMUST00000145754

SMART Domains

Protein: ENSMUSP00000116621
Gene: ENSMUSG00000037868

Domain	Start	End	E-Value	Type
Pfam:DUF3446	107	197	4.4e-28	PFAM
low complexity region	203	230	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000145936

SMART Domains

Protein: ENSMUSP00000115709
Gene: ENSMUSG00000037868

Domain	Start	End	E-Value	Type
Pfam:DUF3446	107	197	3.7e-29	PFAM
low complexity region	203	230	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000146986

SMART Domains

Protein: ENSMUSP00000118941
Gene: ENSMUSG00000037868

Domain	Start	End	E-Value	Type
Pfam:DUF3446	44	72	7.5e-11	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcription factor with three tandem C2H2-type zinc fingers. Defects in this gene are associated with Charcot-Marie-Tooth disease type 1D (CMT1D), Charcot-Marie-Tooth disease type 4E (CMT4E), and with Dejerine-Sottas syndrome (DSS). Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygotes for targeted mutations exhibit absence of rhombomeres 3 and 5 of the hindbrain affecting axonal migration, disrupted myelination of Schwann cells, slow respiratory and jaw opening rhythms, skeletal abnormalities, and perinatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630076J17Rik	G	A	3: 107,139,997 (GRCm39)		probably null	Het
Akap13	A	G	7: 75,389,213 (GRCm39)	D2377G	probably damaging	Het
Ankrd44	A	T	1: 54,801,550 (GRCm39)	I56N	possibly damaging	Het
Apob	T	A	12: 8,065,445 (GRCm39)	I4105N	probably damaging	Het
Arhgap5	T	A	12: 52,564,740 (GRCm39)	N570K	probably benign	Het
Arid1b	A	T	17: 5,293,191 (GRCm39)	Q703L	probably damaging	Het
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
Cad	T	A	5: 31,218,570 (GRCm39)	V499D	probably damaging	Het
Cdkn2d	C	G	9: 21,202,185 (GRCm39)	V21L	probably benign	Het
Celsr2	A	C	3: 108,302,313 (GRCm39)	I2605S	probably damaging	Het
Chd6	T	A	2: 160,871,796 (GRCm39)	Y213F	possibly damaging	Het
Clec18a	T	A	8: 111,802,102 (GRCm39)	T296S	probably damaging	Het
Crybg2	C	T	4: 133,802,205 (GRCm39)	P1122S	probably benign	Het
Cyld	G	T	8: 89,445,929 (GRCm39)	S309I	probably benign	Het
Dctn5	G	T	7: 121,734,303 (GRCm39)	R49L	probably damaging	Het
Erbin	C	A	13: 103,970,065 (GRCm39)	V1184F	probably damaging	Het
Ercc2	G	T	7: 19,127,771 (GRCm39)	R406L	probably damaging	Het
Eya1	C	T	1: 14,253,420 (GRCm39)	V519M	probably damaging	Het
Flad1	T	C	3: 89,316,241 (GRCm39)	H107R	probably benign	Het
Fsip2	G	T	2: 82,821,120 (GRCm39)	A5618S	possibly damaging	Het
Gabbr1	G	T	17: 37,378,667 (GRCm39)		probably null	Het
Haghl	A	T	17: 26,003,994 (GRCm39)	V30E	probably damaging	Het
Itga5	C	T	15: 103,258,630 (GRCm39)	E822K	probably damaging	Het
Klhl26	T	A	8: 70,905,342 (GRCm39)	E108D	possibly damaging	Het
Kpnb1	A	T	11: 97,059,996 (GRCm39)	L558Q	probably damaging	Het
Lias	T	C	5: 65,551,383 (GRCm39)		probably null	Het
Ltbp1	A	T	17: 75,583,502 (GRCm39)	K434M	possibly damaging	Het
Marchf1	C	A	8: 66,908,823 (GRCm39)	A177E	probably damaging	Het
Naip2	T	A	13: 100,291,419 (GRCm39)	H1173L	probably benign	Het
Nol4	T	C	18: 22,885,052 (GRCm39)	I419V	probably damaging	Het
Nol6	A	G	4: 41,115,888 (GRCm39)	L1068P	probably damaging	Het
Nrcam	T	C	12: 44,606,513 (GRCm39)	S420P	probably damaging	Het
Or10c1	A	T	17: 37,522,204 (GRCm39)	I180N	possibly damaging	Het
Pitpnm2	T	C	5: 124,259,439 (GRCm39)	T1299A	probably benign	Het
Prdm16	A	G	4: 154,406,765 (GRCm39)	V1220A	probably benign	Het
Saraf	T	C	8: 34,621,870 (GRCm39)	S25P	unknown	Het
Serpine3	C	A	14: 62,911,922 (GRCm39)	L295I	probably damaging	Het
Sntb2	G	A	8: 107,718,239 (GRCm39)		probably null	Het
Surf6	T	C	2: 26,782,721 (GRCm39)	E202G	probably benign	Het
Tent5a	T	C	9: 85,208,527 (GRCm39)	I99V	possibly damaging	Het
Th	A	T	7: 142,450,690 (GRCm39)	D135E	probably benign	Het
Traf1	A	G	2: 34,835,445 (GRCm39)	Y326H	probably damaging	Het
Tshz2	G	A	2: 169,727,008 (GRCm39)	A66T	probably benign	Het
Ttn	T	C	2: 76,777,257 (GRCm39)	M1382V	probably benign	Het
Ubqlnl	A	G	7: 103,798,396 (GRCm39)	V367A	probably benign	Het
Uspl1	T	A	5: 149,150,962 (GRCm39)	S707T	possibly damaging	Het
Utp18	A	G	11: 93,761,359 (GRCm39)	S350P	possibly damaging	Het
Vmn1r177	A	G	7: 23,565,645 (GRCm39)	V77A	possibly damaging	Het
Vmn1r229	A	G	17: 21,034,894 (GRCm39)	I46M	probably damaging	Het
Vnn3	T	C	10: 23,741,567 (GRCm39)	Y291H	probably benign	Het
Vps9d1	A	G	8: 123,974,487 (GRCm39)	S267P	probably benign	Het
Wrn	T	A	8: 33,785,026 (GRCm39)	T692S	probably damaging	Het
Yeats2	T	C	16: 20,032,071 (GRCm39)	I19T	probably damaging	Het
Zfp13	G	A	17: 23,800,150 (GRCm39)	A36V	probably benign	Het

Other mutations in Egr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01921:Egr2	APN	10	67,376,208 (GRCm39)	splice site	probably null
IGL01933:Egr2	APN	10	67,376,024 (GRCm39)	missense	probably damaging	0.99
IGL02093:Egr2	APN	10	67,375,854 (GRCm39)	missense	probably damaging	1.00
Puyol	UTSW	10	67,375,733 (GRCm39)	frame shift	probably null
R0045:Egr2	UTSW	10	67,376,310 (GRCm39)	missense	probably benign	0.01
R1572:Egr2	UTSW	10	67,375,805 (GRCm39)	missense	probably damaging	1.00
R1992:Egr2	UTSW	10	67,375,857 (GRCm39)	missense	probably damaging	0.99
R2139:Egr2	UTSW	10	67,376,702 (GRCm39)	missense	probably damaging	0.99
R3012:Egr2	UTSW	10	67,375,733 (GRCm39)	frame shift	probably null
R4454:Egr2	UTSW	10	67,375,733 (GRCm39)	frame shift	probably null
R4455:Egr2	UTSW	10	67,375,733 (GRCm39)	frame shift	probably null
R4462:Egr2	UTSW	10	67,375,733 (GRCm39)	frame shift	probably null
R4903:Egr2	UTSW	10	67,374,163 (GRCm39)	missense	probably damaging	1.00
R5133:Egr2	UTSW	10	67,375,605 (GRCm39)	missense	probably damaging	0.99
R5566:Egr2	UTSW	10	67,376,596 (GRCm39)	nonsense	probably null
R8462:Egr2	UTSW	10	67,374,173 (GRCm39)	missense	probably null	0.99
R9435:Egr2	UTSW	10	67,375,628 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGTCAGCATGCGTGTATGTG -3'
(R):5'- AGAGATCTCCTGTACAGCCC -3'

Sequencing Primer
(F):5'- CAGCATGCGTGTATGTGAATTAG -3'
(R):5'- GATCTCCTGTACAGCCCGAATAAGG -3'

Posted On

2015-07-21