Mutagenetix > Incidental Mutation

Incidental Mutation 'R5566:Egr2'

436838

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

043123-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5566 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67371305-67378018 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 67376596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 339 (C339*)

Ref Sequence

ENSEMBL: ENSMUSP00000116799 (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: C397*

SMART Domains

Protein: ENSMUSP00000041053
Gene: ENSMUSG00000037868
AA Change: C397*

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
AA Change: C347*

SMART Domains

Protein: ENSMUSP00000101078
Gene: ENSMUSG00000037868
AA Change: C347*

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
AA Change: C339*

SMART Domains

Protein: ENSMUSP00000116799
Gene: ENSMUSG00000037868
AA Change: C339*

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 benign
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 benign
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 benign
Transcript: ENSMUST00000146986

SMART Domains

Protein: ENSMUSP00000118941
Gene: ENSMUSG00000037868

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,244,615 (GRCm39)	Y2159*	probably null	Het
Abca3	A	G	17: 24,602,901 (GRCm39)	T499A	probably benign	Het
Abcb5	T	A	12: 118,899,702 (GRCm39)	T322S	probably damaging	Het
Adamts4	T	A	1: 171,078,419 (GRCm39)	M1K	probably null	Het
Adamtsl4	C	T	3: 95,592,765 (GRCm39)		probably null	Het
Adh4	A	T	3: 138,129,950 (GRCm39)	I259F	probably damaging	Het
Aff3	G	A	1: 38,220,505 (GRCm39)	S1135F	probably damaging	Het
Arhgef16	T	C	4: 154,370,105 (GRCm39)	D280G	probably benign	Het
Baiap3	T	C	17: 25,470,707 (GRCm39)	E71G	probably damaging	Het
Calb2	A	G	8: 110,879,332 (GRCm39)	I91T	possibly damaging	Het
Ccr5	A	G	9: 123,924,697 (GRCm39)	N100S	probably benign	Het
Cep57	G	T	9: 13,732,871 (GRCm39)	R25S	probably damaging	Het
Chadl	A	G	15: 81,580,079 (GRCm39)	L52P	probably damaging	Het
Clec12b	T	C	6: 129,362,438 (GRCm39)	T6A	probably damaging	Het
Cnga1	T	A	5: 72,775,593 (GRCm39)	N43Y	probably damaging	Het
Col20a1	A	T	2: 180,628,316 (GRCm39)		probably null	Het
Csmd2	T	C	4: 128,356,682 (GRCm39)		probably null	Het
Ctps1	A	T	4: 120,411,300 (GRCm39)		probably null	Het
Cyp39a1	T	A	17: 43,996,099 (GRCm39)	W224R	possibly damaging	Het
Defb29	A	T	2: 152,380,848 (GRCm39)	Y54N	probably benign	Het
Dmbt1	A	T	7: 130,708,003 (GRCm39)	D1241V	probably damaging	Het
Dnah1	A	T	14: 30,996,323 (GRCm39)	I2671K	probably benign	Het
Dnah2	C	A	11: 69,407,395 (GRCm39)	E158*	probably null	Het
Dynlt2b	A	G	16: 32,238,718 (GRCm39)	Y31C	probably damaging	Het
Edar	A	G	10: 58,464,463 (GRCm39)	S59P	possibly damaging	Het
Eif5b	G	A	1: 38,084,765 (GRCm39)	V871I	possibly damaging	Het
Eif5b	G	A	1: 38,090,328 (GRCm39)	G1169E	probably damaging	Het
Erap1	A	G	13: 74,810,531 (GRCm39)	Y290C	probably damaging	Het
Fastkd5	T	A	2: 130,456,221 (GRCm39)	T790S	possibly damaging	Het
Fkrp	C	T	7: 16,544,849 (GRCm39)	V338M	probably damaging	Het
Gabra6	T	C	11: 42,198,317 (GRCm39)	T378A	probably benign	Het
Gm4924	C	A	10: 82,214,475 (GRCm39)	Q17K	possibly damaging	Het
Gm9847	A	G	12: 14,545,000 (GRCm39)		noncoding transcript	Het
Gpr108	A	G	17: 57,543,919 (GRCm39)	F429S	probably damaging	Het
Gpr162	G	A	6: 124,837,901 (GRCm39)	R250*	probably null	Het
Gtf2a1	A	T	12: 91,534,368 (GRCm39)	D295E	possibly damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Herc1	T	A	9: 66,372,819 (GRCm39)	M3125K	possibly damaging	Het
Hoxb6	T	A	11: 96,191,580 (GRCm39)	Y167*	probably null	Het
Hrob	T	A	11: 102,146,659 (GRCm39)	S312T	probably damaging	Het
Htt	T	C	5: 35,006,419 (GRCm39)	Y1443H	probably damaging	Het
Il21r	A	G	7: 125,224,470 (GRCm39)	D28G	probably damaging	Het
Impact	T	G	18: 13,107,819 (GRCm39)	V29G	probably damaging	Het
Itpr3	A	G	17: 27,334,926 (GRCm39)	T2147A	possibly damaging	Het
Itsn2	T	A	12: 4,676,554 (GRCm39)	L50Q	probably damaging	Het
Jade1	A	G	3: 41,559,338 (GRCm39)	D473G	possibly damaging	Het
Kif26a	T	G	12: 112,123,788 (GRCm39)	L131R	probably damaging	Het
Kif2a	A	T	13: 107,130,432 (GRCm39)	M1K	probably null	Het
Lrsam1	C	A	2: 32,831,870 (GRCm39)	Q368H	probably damaging	Het
Macf1	T	C	4: 123,328,957 (GRCm39)	Q4592R	probably damaging	Het
Map3k5	T	C	10: 19,986,465 (GRCm39)	V893A	probably damaging	Het
Med13l	G	T	5: 118,866,730 (GRCm39)	V595F	possibly damaging	Het
Mocs1	T	A	17: 49,761,211 (GRCm39)	L435Q	possibly damaging	Het
Mtmr4	T	C	11: 87,495,356 (GRCm39)	L471P	probably damaging	Het
Myo7a	T	C	7: 97,714,023 (GRCm39)	E1616G	possibly damaging	Het
Nacad	T	A	11: 6,552,136 (GRCm39)	S352C	probably damaging	Het
Nfat5	T	A	8: 108,095,767 (GRCm39)	M817K	possibly damaging	Het
Ofcc1	C	A	13: 40,248,129 (GRCm39)	L668F	probably damaging	Het
Or12j2	C	A	7: 139,915,980 (GRCm39)	D68E	probably damaging	Het
Or7e178	T	C	9: 20,225,265 (GRCm39)	Q309R	probably benign	Het
Or8j3c	G	A	2: 86,253,721 (GRCm39)	Q100*	probably null	Het
Plxnb2	T	C	15: 89,048,223 (GRCm39)	T696A	probably benign	Het
Prkab2	T	A	3: 97,569,609 (GRCm39)	F58L	probably benign	Het
Prpf4	G	T	4: 62,334,206 (GRCm39)	L220F	probably benign	Het
Rad18	A	T	6: 112,658,307 (GRCm39)	D199E	probably benign	Het
Raet1e	T	C	10: 22,050,304 (GRCm39)	L29P	probably damaging	Het
Ralgapb	A	C	2: 158,336,630 (GRCm39)	T1089P	possibly damaging	Het
Rest	A	G	5: 77,430,173 (GRCm39)	E864G	probably benign	Het
Rgsl1	T	A	1: 153,669,520 (GRCm39)	I289F	probably damaging	Het
Rint1	T	C	5: 24,015,951 (GRCm39)	Y406H	probably damaging	Het
Rmc1	T	C	18: 12,313,749 (GRCm39)	I26T	possibly damaging	Het
Rpl31	C	T	1: 39,409,108 (GRCm39)	R41C	probably benign	Het
Scn8a	T	C	15: 100,872,415 (GRCm39)	S485P	probably damaging	Het
Slamf1	T	A	1: 171,615,538 (GRCm39)	V249E	possibly damaging	Het
Slc39a12	C	T	2: 14,412,414 (GRCm39)	T362I	possibly damaging	Het
Sos1	C	T	17: 80,761,319 (GRCm39)	V126I	possibly damaging	Het
Srcap	T	C	7: 127,124,475 (GRCm39)	F215S	probably damaging	Het
Supt4a	T	A	11: 87,634,113 (GRCm39)	S110T	probably benign	Het
Tbc1d30	T	A	10: 121,138,015 (GRCm39)	T232S	probably damaging	Het
Tenm3	A	G	8: 48,732,041 (GRCm39)	C1288R	probably damaging	Het
Tespa1	T	A	10: 130,191,356 (GRCm39)	L100*	probably null	Het
Tgm1	C	A	14: 55,949,893 (GRCm39)	R105L	probably damaging	Het
Tgoln1	G	A	6: 72,593,018 (GRCm39)	T154I	possibly damaging	Het
Trp53i13	G	A	11: 77,399,552 (GRCm39)	T259I	probably damaging	Het
Tubgcp4	T	A	2: 121,015,251 (GRCm39)	F320I	possibly damaging	Het
Tut7	A	T	13: 59,936,443 (GRCm39)	C817*	probably null	Het
Vmn1r21	A	C	6: 57,821,079 (GRCm39)	Y122D	probably benign	Het
Vmn1r75	T	A	7: 11,614,407 (GRCm39)	D46E	probably damaging	Het
Vmn2r120	A	T	17: 57,852,290 (GRCm39)	L9M	possibly damaging	Het
Vmn2r59	A	G	7: 41,696,247 (GRCm39)	I165T	possibly damaging	Het
Vmn2r76	A	T	7: 85,875,286 (GRCm39)	Y564N	probably damaging	Het
Wee1	G	T	7: 109,725,257 (GRCm39)	E300*	probably null	Het
Xdh	T	C	17: 74,200,617 (GRCm39)	D1168G	probably damaging	Het
Zfp54	A	G	17: 21,653,706 (GRCm39)	T67A	probably damaging	Het
Zfp941	G	T	7: 140,392,679 (GRCm39)	H227N	probably benign	Het
Zpr1	T	A	9: 46,192,373 (GRCm39)	V399D	possibly damaging	Het
Zzz3	A	G	3: 152,161,461 (GRCm39)	E285G	probably damaging	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
R4458: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
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'- GCCCAGCAGAAGGTTGTGATAG -3'
(R):5'- ATCTCACGGTGTCCTGGTTC -3'

Sequencing Primer
(F):5'- GATAGGAGGTTCTCACGCTC -3'
(R):5'- CTCCAATGGCGCTGTTACCG -3'

Posted On

2016-10-24