Mutagenetix > Incidental Mutation

Incidental Mutation 'R1992:Egr2'

223687

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

040003-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1992 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67371305-67378018 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67375857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 164 (V164A)

Ref Sequence

ENSEMBL: ENSMUSP00000115709 (fasta)

Gene Model

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

AlphaFold

P08152

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048289
AA Change: V151A

PolyPhen 2 Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000041053
Gene: ENSMUSG00000037868
AA Change: V151A

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

possibly damaging
Transcript: ENSMUST00000105438
AA Change: V101A

PolyPhen 2 Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000101078
Gene: ENSMUSG00000037868
AA Change: V101A

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 benign
Transcript: ENSMUST00000127820
AA Change: V93A

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000116799
Gene: ENSMUSG00000037868
AA Change: V93A

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 damaging
Transcript: ENSMUST00000145754
AA Change: V164A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116621
Gene: ENSMUSG00000037868
AA Change: V164A

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 damaging
Transcript: ENSMUST00000145936
AA Change: V164A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000115709
Gene: ENSMUSG00000037868
AA Change: V164A

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: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.5%

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: 123 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	T	C	1: 138,781,380 (GRCm39)	T90A	probably damaging	Het
A930011G23Rik	T	C	5: 99,381,784 (GRCm39)	D326G	possibly damaging	Het
Abcc2	A	T	19: 43,795,581 (GRCm39)	I446F	probably damaging	Het
Adam34l	T	C	8: 44,080,176 (GRCm39)	K16R	probably benign	Het
Adamts14	A	G	10: 61,034,439 (GRCm39)	Y1150H	probably benign	Het
Adgrl2	A	G	3: 148,522,880 (GRCm39)	I217T	possibly damaging	Het
Afap1l1	A	T	18: 61,874,842 (GRCm39)	Y446*	probably null	Het
Aimp2	G	A	5: 143,843,548 (GRCm39)	A14V	probably damaging	Het
Akap8	G	A	17: 32,535,586 (GRCm39)	H143Y	probably damaging	Het
Aldh2	A	T	5: 121,714,026 (GRCm39)	V207E	possibly damaging	Het
Aoc1l2	T	A	6: 48,907,703 (GRCm39)	H234Q	probably damaging	Het
Armc3	T	C	2: 19,297,953 (GRCm39)	Y575H	probably damaging	Het
Arpp21	T	C	9: 111,986,861 (GRCm39)	E230G	probably damaging	Het
Arrdc3	G	A	13: 81,031,808 (GRCm39)	D14N	probably damaging	Het
Atn1	A	G	6: 124,722,291 (GRCm39)		probably benign	Het
Atxn7l1	G	A	12: 33,408,743 (GRCm39)	D302N	probably damaging	Het
Bbs1	T	A	19: 4,941,736 (GRCm39)	H518L	probably benign	Het
Bltp1	A	T	3: 37,054,181 (GRCm39)	H3100L	probably benign	Het
Bmpr1a	C	A	14: 34,147,050 (GRCm39)	G241C	probably damaging	Het
Cacna1b	G	A	2: 24,622,318 (GRCm39)	P222L	probably damaging	Het
Calcrl	T	C	2: 84,200,855 (GRCm39)	Y63C	probably damaging	Het
Cand2	A	G	6: 115,762,093 (GRCm39)	H173R	possibly damaging	Het
Cap2	T	A	13: 46,791,357 (GRCm39)	Y175N	possibly damaging	Het
Card14	A	T	11: 119,212,647 (GRCm39)		probably null	Het
Cd3d	T	A	9: 44,896,299 (GRCm39)	Y29*	probably null	Het
Cd4	A	G	6: 124,844,651 (GRCm39)	V378A	possibly damaging	Het
Cluh	A	T	11: 74,550,828 (GRCm39)	H318L	probably damaging	Het
Clvs1	T	A	4: 9,281,899 (GRCm39)	D114E	probably benign	Het
Cnot4	T	A	6: 35,000,344 (GRCm39)	T548S	probably benign	Het
Col18a1	T	C	10: 76,916,988 (GRCm39)	I114V	unknown	Het
Cr2	G	A	1: 194,836,458 (GRCm39)	P1278S	possibly damaging	Het
Crebbp	A	T	16: 3,946,561 (GRCm39)		probably null	Het
Dnah7a	T	G	1: 53,621,835 (GRCm39)	K1097Q	possibly damaging	Het
Doc2a	T	A	7: 126,450,979 (GRCm39)		probably null	Het
Dpp10	A	T	1: 123,832,833 (GRCm39)	V48E	probably null	Het
Dsg2	A	G	18: 20,734,530 (GRCm39)	K836R	probably damaging	Het
Erbin	A	T	13: 103,970,221 (GRCm39)	S1132T	probably benign	Het
Espn	T	A	4: 152,213,012 (GRCm39)		probably null	Het
Fam83b	A	G	9: 76,399,304 (GRCm39)	S600P	probably benign	Het
Fanca	A	T	8: 124,024,551 (GRCm39)	N425K	possibly damaging	Het
Flot2	C	T	11: 77,949,445 (GRCm39)	L294F	probably damaging	Het
Frs2	A	G	10: 116,910,459 (GRCm39)	V301A	probably benign	Het
Fv1	T	A	4: 147,953,618 (GRCm39)	N61K	possibly damaging	Het
Fxr2	A	G	11: 69,540,659 (GRCm39)	E339G	possibly damaging	Het
Gck	T	C	11: 5,856,515 (GRCm39)	Y214C	probably damaging	Het
Golga3	C	G	5: 110,340,839 (GRCm39)	T551R	probably damaging	Het
Gorab	A	G	1: 163,224,625 (GRCm39)	S59P	probably damaging	Het
Gsdme	C	T	6: 50,185,102 (GRCm39)	V451M	probably damaging	Het
H2-T13	A	C	17: 36,391,938 (GRCm39)	I216S	probably damaging	Het
Herc4	T	A	10: 63,081,743 (GRCm39)	V22E	possibly damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hoxa2	A	T	6: 52,141,576 (GRCm39)	S17T	probably damaging	Het
Hs3st5	A	G	10: 36,708,882 (GRCm39)	Y139C	probably damaging	Het
Ism1	G	A	2: 139,587,937 (GRCm39)	V221I	probably benign	Het
Kalrn	T	G	16: 33,796,108 (GRCm39)	L1222F	probably damaging	Het
Katnip	A	G	7: 125,419,261 (GRCm39)	N476S	probably benign	Het
Kdm4c	A	G	4: 74,261,631 (GRCm39)	D602G	possibly damaging	Het
Ktn1	A	G	14: 47,932,978 (GRCm39)	K711E	probably damaging	Het
Lce1k	A	T	3: 92,714,125 (GRCm39)	C20S	unknown	Het
Macf1	A	G	4: 123,350,488 (GRCm39)	S3792P	probably damaging	Het
Maml3	C	T	3: 51,598,178 (GRCm39)	M189I	probably benign	Het
Mcc	C	A	18: 44,624,382 (GRCm39)	E213*	probably null	Het
Mep1a	T	G	17: 43,813,573 (GRCm39)	I13L	probably benign	Het
Mkrn2	G	T	6: 115,586,562 (GRCm39)	C16F	probably damaging	Het
Mlh1	C	T	9: 111,057,631 (GRCm39)	A727T	probably damaging	Het
Muc21	A	T	17: 35,929,600 (GRCm39)	S1529T	probably benign	Het
Naa16	T	C	14: 79,593,931 (GRCm39)	Y344C	probably damaging	Het
Nebl	T	A	2: 17,457,321 (GRCm39)	I80F	probably damaging	Het
Nlrc4	T	A	17: 74,752,628 (GRCm39)	Y585F	probably benign	Het
Nrcam	A	G	12: 44,587,753 (GRCm39)	K149R	probably damaging	Het
Nufip1	T	A	14: 76,372,287 (GRCm39)	I467N	probably damaging	Het
Nup133	A	G	8: 124,632,960 (GRCm39)	I1057T	possibly damaging	Het
Obscn	A	T	11: 58,886,653 (GRCm39)		probably benign	Het
Or10ag52	T	A	2: 87,043,588 (GRCm39)	C117*	probably null	Het
Or5k1	A	G	16: 58,617,309 (GRCm39)	V300A	probably benign	Het
Or5k14	A	C	16: 58,692,874 (GRCm39)	I213R	probably benign	Het
Pi4k2a	A	T	19: 42,104,377 (GRCm39)	I380F	probably damaging	Het
Piezo2	A	T	18: 63,207,733 (GRCm39)	L1426Q	probably null	Het
Pik3cg	A	T	12: 32,254,024 (GRCm39)	D654E	possibly damaging	Het
Poli	G	T	18: 70,642,058 (GRCm39)	P714Q	probably damaging	Het
Polr3f	A	G	2: 144,378,230 (GRCm39)	N201D	probably benign	Het
Prorp	A	G	12: 55,384,991 (GRCm39)	D89G	probably damaging	Het
Ptprz1	A	T	6: 22,959,747 (GRCm39)	K81N	probably benign	Het
Rbm19	T	C	5: 120,271,948 (GRCm39)		probably null	Het
Sec24a	C	T	11: 51,627,190 (GRCm39)	V241I	probably benign	Het
Sgk3	A	G	1: 9,950,567 (GRCm39)	T160A	possibly damaging	Het
Slc1a4	A	G	11: 20,254,375 (GRCm39)	I497T	probably benign	Het
Slc26a9	A	T	1: 131,690,532 (GRCm39)	D512V	probably damaging	Het
Slc43a3	C	T	2: 84,788,084 (GRCm39)	R489C	probably damaging	Het
Slc5a12	T	A	2: 110,452,089 (GRCm39)	F327L	probably benign	Het
Slitrk3	A	G	3: 72,957,104 (GRCm39)	V556A	possibly damaging	Het
Spata6l	A	G	19: 28,926,024 (GRCm39)	F130L	probably damaging	Het
Spib	T	C	7: 44,178,281 (GRCm39)	E180G	probably benign	Het
Spint2	T	A	7: 28,958,833 (GRCm39)	N128Y	probably damaging	Het
Spx	G	A	6: 142,364,245 (GRCm39)	G102E	probably benign	Het
Spz1	T	A	13: 92,712,166 (GRCm39)	E103D	possibly damaging	Het
Sstr2	T	C	11: 113,515,495 (GRCm39)	I138T	probably benign	Het
Sytl3	T	A	17: 7,000,448 (GRCm39)	I206N	possibly damaging	Het
Tcaf2	T	C	6: 42,606,791 (GRCm39)	T388A	probably benign	Het
Tdpoz8	G	T	3: 92,981,344 (GRCm39)	A121S	probably benign	Het
Thap12	T	C	7: 98,365,572 (GRCm39)	V580A	possibly damaging	Het
Tlr5	T	A	1: 182,801,912 (GRCm39)	D405E	probably damaging	Het
Tnxb	T	C	17: 34,890,878 (GRCm39)	V407A	probably damaging	Het
Tpx2	T	A	2: 152,732,544 (GRCm39)	M606K	probably benign	Het
Trim43a	T	G	9: 88,466,312 (GRCm39)	L211R	probably damaging	Het
Trim46	A	T	3: 89,145,008 (GRCm39)	Y489N	probably damaging	Het
Ttc28	C	T	5: 111,424,188 (GRCm39)	S1485L	probably benign	Het
Ttll8	T	C	15: 88,798,654 (GRCm39)	T694A	probably benign	Het
Txnl1	T	C	18: 63,812,585 (GRCm39)	T70A	probably benign	Het
Ube3a	C	T	7: 58,953,535 (GRCm39)	A823V	probably damaging	Het
Ubqln5	C	A	7: 103,778,741 (GRCm39)	V28F	probably damaging	Het
Ulk1	T	A	5: 110,935,017 (GRCm39)	Q972L	probably damaging	Het
Unc93b1	T	C	19: 3,994,062 (GRCm39)	Y398H	probably benign	Het
Usp1	A	G	4: 98,822,531 (GRCm39)	D615G	probably benign	Het
Utp15	A	G	13: 98,387,420 (GRCm39)	C385R	probably benign	Het
Vmn2r91	T	A	17: 18,356,142 (GRCm39)	V603D	probably damaging	Het
Whamm	C	T	7: 81,241,519 (GRCm39)	R277*	probably null	Het
Wnt8a	A	G	18: 34,677,937 (GRCm39)	D115G	probably damaging	Het
Yjefn3	A	T	8: 70,341,645 (GRCm39)		probably null	Het
Ywhab	A	T	2: 163,853,807 (GRCm39)	I95F	probably damaging	Het
Zfp143	C	T	7: 109,660,489 (GRCm39)		probably benign	Het
Zfp607b	C	G	7: 27,401,949 (GRCm39)	T135R	possibly damaging	Het
Zfp970	A	G	2: 177,166,663 (GRCm39)	Q79R	possibly 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
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
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'- CCAGACCTTCACTTACATGGGC -3'
(R):5'- GAATGAGACCTGGGTCCATAG -3'

Sequencing Primer
(F):5'- ATGGGCAAATTCTCCATTGACC -3'
(R):5'- CCTGGGTCCATAGCTGGCTTG -3'

Posted On

2014-08-25