Mutagenetix > Incidental Mutation

Incidental Mutation 'R3881:Nr2f6'

308768

Institutional Source

Beutler Lab

Gene Symbol

Nr2f6

Ensembl Gene

ENSMUSG00000002393

Gene Name

nuclear receptor subfamily 2, group F, member 6

Synonyms

EAR2, Erbal2, COUP-TF3

MMRRC Submission

040795-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3881 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

71826762-71834593 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 71828675 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 200 (A200T)

Ref Sequence

ENSEMBL: ENSMUSP00000121648 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002466] [ENSMUST00000002469] [ENSMUST00000110051] [ENSMUST00000110052] [ENSMUST00000137058]

AlphaFold

P43136

Predicted Effect

probably benign
Transcript: ENSMUST00000002466
AA Change: A207T

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000002466
Gene: ENSMUSG00000002393
AA Change: A207T

Domain	Start	End	E-Value	Type
low complexity region	5	17	N/A	INTRINSIC
ZnF_C4	54	125	1.48e-38	SMART
low complexity region	173	185	N/A	INTRINSIC
HOLI	191	351	1.07e-39	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000002469

SMART Domains

Protein: ENSMUSP00000002469
Gene: ENSMUSG00000002396

Domain	Start	End	E-Value	Type
low complexity region	5	23	N/A	INTRINSIC
low complexity region	29	62	N/A	INTRINSIC
Pfam:Occludin_ELL	106	207	8.7e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110051

SMART Domains

Protein: ENSMUSP00000105678
Gene: ENSMUSG00000002396

Domain	Start	End	E-Value	Type
low complexity region	5	23	N/A	INTRINSIC
low complexity region	29	62	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110052

SMART Domains

Protein: ENSMUSP00000105679
Gene: ENSMUSG00000002396

Domain	Start	End	E-Value	Type
low complexity region	5	23	N/A	INTRINSIC
low complexity region	29	62	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000124732
AA Change: A161T

SMART Domains

Protein: ENSMUSP00000116498
Gene: ENSMUSG00000002393
AA Change: A161T

Domain	Start	End	E-Value	Type
ZnF_C4	38	80	4.35e-4	SMART
low complexity region	128	140	N/A	INTRINSIC
HOLI	146	254	2.72e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126049

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127443

Predicted Effect

probably damaging
Transcript: ENSMUST00000137058
AA Change: A200T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000121648
Gene: ENSMUSG00000002393
AA Change: A200T

Domain	Start	End	E-Value	Type
low complexity region	39	62	N/A	INTRINSIC
ZnF_C4	76	118	4.35e-4	SMART
Pfam:Hormone_recep	175	270	9.4e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132630

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137734

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155463

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156270

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial agenesis of the locus coeruleus, increased thermal nociception, and defective circadian behavior including a delayed entrainment to shifted light-dark cycles and reduced anticipatory locomotor activity in restricted feeding experiments. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010003K11Rik	T	G	19: 4,548,417 (GRCm39)	K44T	possibly damaging	Het
4933402N03Rik	T	C	7: 130,740,823 (GRCm39)	E131G	probably benign	Het
Angptl4	G	A	17: 33,996,008 (GRCm39)	P323S	possibly damaging	Het
Cep41	A	G	6: 30,658,397 (GRCm39)	S201P	probably damaging	Het
Cep95	A	G	11: 106,697,118 (GRCm39)	I257V	probably damaging	Het
Clca4a	T	C	3: 144,663,079 (GRCm39)	N590S	probably benign	Het
Cyfip2	A	G	11: 46,099,162 (GRCm39)	L716P	probably damaging	Het
Cyp2d34	T	A	15: 82,502,818 (GRCm39)	Q136L	probably benign	Het
Def6	T	C	17: 28,439,189 (GRCm39)	C267R	probably damaging	Het
Dgat2	G	A	7: 98,818,950 (GRCm39)	Q69*	probably null	Het
Dlgap1	T	A	17: 71,093,810 (GRCm39)	S710R	probably damaging	Het
Dnah10	T	C	5: 124,850,095 (GRCm39)	I1539T	probably benign	Het
Dnah2	T	A	11: 69,342,173 (GRCm39)	I2932F	possibly damaging	Het
Enpp2	A	G	15: 54,783,088 (GRCm39)	S76P	probably damaging	Het
Esr2	T	C	12: 76,214,394 (GRCm39)	D19G	probably damaging	Het
Fam13b	A	T	18: 34,595,112 (GRCm39)		probably null	Het
Fbxw14	A	T	9: 109,100,262 (GRCm39)	V464D	possibly damaging	Het
Fcgbpl1	T	A	7: 27,839,463 (GRCm39)	C425*	probably null	Het
Gm21961	A	G	15: 64,886,716 (GRCm39)		probably null	Het
Gpd2	C	T	2: 57,228,987 (GRCm39)	R264*	probably null	Het
Hps5	A	G	7: 46,421,420 (GRCm39)	V648A	possibly damaging	Het
Ints4	A	G	7: 97,165,464 (GRCm39)	T517A	possibly damaging	Het
Itpr3	A	G	17: 27,332,814 (GRCm39)	N1860S	probably benign	Het
Itsn2	G	A	12: 4,684,546 (GRCm39)		probably benign	Het
Jup	A	G	11: 100,269,207 (GRCm39)	V402A	probably benign	Het
Letm2	C	A	8: 26,083,884 (GRCm39)	E116*	probably null	Het
Ly6c1	T	C	15: 74,917,436 (GRCm39)	T71A	probably benign	Het
Mcm3ap	G	A	10: 76,342,280 (GRCm39)	S1591N	probably benign	Het
Mier2	C	T	10: 79,384,584 (GRCm39)		probably null	Het
Mocs2	T	A	13: 114,955,882 (GRCm39)	L10*	probably null	Het
Myo6	A	G	9: 80,171,538 (GRCm39)	D513G	probably damaging	Het
Myoz2	T	C	3: 122,807,369 (GRCm39)	Y147C	probably damaging	Het
Nin	C	T	12: 70,089,315 (GRCm39)	V1367M	probably benign	Het
Obscn	C	T	11: 58,947,775 (GRCm39)	C4418Y	probably damaging	Het
Or10ak9	A	G	4: 118,726,550 (GRCm39)	M191V	probably benign	Het
Or10q12	T	C	19: 13,746,144 (GRCm39)	V146A	probably benign	Het
Or5g26	T	A	2: 85,494,769 (GRCm39)	H3L	probably benign	Het
Paxip1	C	T	5: 27,953,837 (GRCm39)	R953Q	probably damaging	Het
Pcdha1	A	T	18: 37,064,454 (GRCm39)	I373F	possibly damaging	Het
Pcdha7	G	A	18: 37,108,432 (GRCm39)	E486K	probably benign	Het
Recql5	G	A	11: 115,784,780 (GRCm39)	P849L	probably benign	Het
Recql5	G	T	11: 115,784,781 (GRCm39)	P849T	probably benign	Het
Rnf180	A	T	13: 105,386,915 (GRCm39)	M131K	possibly damaging	Het
Rplp1	A	G	9: 61,821,704 (GRCm39)	S3P	probably benign	Het
Rpp38	T	A	2: 3,330,283 (GRCm39)	R206S	probably benign	Het
Sdha	G	T	13: 74,487,311 (GRCm39)	P159Q	probably damaging	Het
Shank2	T	C	7: 143,959,121 (GRCm39)	V199A	probably benign	Het
Tex11	C	A	X: 99,977,021 (GRCm39)	A487S	possibly damaging	Het
Timm50	C	A	7: 28,010,432 (GRCm39)	A41S	probably benign	Het
Tmbim1	A	G	1: 74,329,157 (GRCm39)		probably benign	Het
Tmprss11a	C	T	5: 86,593,664 (GRCm39)	V29M	possibly damaging	Het
Ttc28	A	T	5: 111,331,106 (GRCm39)	H411L	probably damaging	Het
Ube4b	A	T	4: 149,449,861 (GRCm39)		probably null	Het
Zdhhc22	T	A	12: 87,030,400 (GRCm39)	M183L	probably benign	Het
Zfp106	A	G	2: 120,362,630 (GRCm39)	S830P	probably benign	Het

Other mutations in Nr2f6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02152:Nr2f6	APN	8	71,828,810 (GRCm39)	missense	probably damaging	1.00
IGL02415:Nr2f6	APN	8	71,827,156 (GRCm39)	missense	probably benign	0.07
R2679:Nr2f6	UTSW	8	71,827,380 (GRCm39)	missense	probably damaging	1.00
R4745:Nr2f6	UTSW	8	71,831,179 (GRCm39)	missense	probably benign	0.04
R5482:Nr2f6	UTSW	8	71,827,182 (GRCm39)	missense	probably damaging	1.00
R7781:Nr2f6	UTSW	8	71,828,595 (GRCm39)	missense	possibly damaging	0.52
R9237:Nr2f6	UTSW	8	71,831,073 (GRCm39)	missense	probably damaging	1.00
R9629:Nr2f6	UTSW	8	71,827,171 (GRCm39)	missense	probably damaging	1.00
Z1177:Nr2f6	UTSW	8	71,828,392 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGTGAAGTCTGCTTGGAGGC -3'
(R):5'- TGATTGACAGATGTGGCCTCC -3'

Sequencing Primer
(F):5'- ACGCACCTGGTCCATGAAG -3'
(R):5'- ACTGCTAGTGCCCAGTGTG -3'

Posted On

2015-04-17