Mutagenetix > Incidental Mutation

Incidental Mutation 'R7653:Nr2f1'

580498

Institutional Source

Beutler Lab

Gene Symbol

Nr2f1

Ensembl Gene

ENSMUSG00000069171

Gene Name

nuclear receptor subfamily 2, group F, member 1

Synonyms

Tcfcoup1, COUP-TF1, COUP-TFI, Erbal3

MMRRC Submission

045730-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7653 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78337090-78346954 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78343716 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 183 (S183T)

Ref Sequence

ENSEMBL: ENSMUSP00000089036 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091458] [ENSMUST00000125176] [ENSMUST00000127137] [ENSMUST00000150498] [ENSMUST00000224798]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000091458
AA Change: S183T

PolyPhen 2 Score 0.318 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000089036
Gene: ENSMUSG00000069171
AA Change: S183T

Domain	Start	End	E-Value	Type
low complexity region	16	65	N/A	INTRINSIC
low complexity region	68	79	N/A	INTRINSIC
ZnF_C4	80	151	3.01e-39	SMART
HOLI	218	378	5.16e-47	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125176
AA Change: S36T

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000122618
Gene: ENSMUSG00000069171
AA Change: S36T

Domain	Start	End	E-Value	Type
HOLI	71	231	5.16e-47	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127137
AA Change: S26T

PolyPhen 2 Score 0.200 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000133704
Gene: ENSMUSG00000069171
AA Change: S26T

Domain	Start	End	E-Value	Type
HOLI	61	221	5.16e-47	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000150498
AA Change: S26T

PolyPhen 2 Score 0.200 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000118161
Gene: ENSMUSG00000069171
AA Change: S26T

Domain	Start	End	E-Value	Type
HOLI	61	221	5.16e-47	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000224798
AA Change: S36T

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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 nuclear hormone receptor and transcriptional regulator. The encoded protein acts as a homodimer and binds to 5'-AGGTCA-3' repeats. Defects in this gene are a cause of Bosch-Boonstra optic atrophy syndrome (BBOAS). [provided by RefSeq, Apr 2014]
PHENOTYPE: Homozygotes for a null allele die perinatally with axon guidance defects in all forebrain commissures. Homozygotes for another null allele show neonatal death, impaired cranial ganglion IX formation and axon guidance, increased cochlear HC and support cell number, and altered cortex regionalization. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730049H05Rik	A	T	6: 92,805,050 (GRCm39)	Q70L	unknown	Het
Adamts12	T	A	15: 11,257,115 (GRCm39)	N489K	probably benign	Het
Alms1	A	G	6: 85,597,577 (GRCm39)	D801G	possibly damaging	Het
Apex1	T	G	14: 51,163,995 (GRCm39)	N173K	probably damaging	Het
Arhgap32	A	T	9: 32,168,441 (GRCm39)	N808I	probably benign	Het
Arhgef28	T	C	13: 98,105,821 (GRCm39)	Y706C	probably benign	Het
Atg2b	A	T	12: 105,602,731 (GRCm39)	F1604Y	possibly damaging	Het
Atm	A	T	9: 53,401,602 (GRCm39)	Y1422*	probably null	Het
Bace2	T	A	16: 97,237,852 (GRCm39)	V38E		Het
Birc6	C	A	17: 74,954,729 (GRCm39)	L3442I	possibly damaging	Het
C6	T	A	15: 4,844,244 (GRCm39)	S889T		Het
Calcrl	A	T	2: 84,175,529 (GRCm39)	L275*	probably null	Het
Casp6	T	C	3: 129,705,872 (GRCm39)	Y180H	probably benign	Het
Cd5	T	C	19: 10,703,910 (GRCm39)	M51V	probably benign	Het
Cdhr1	G	T	14: 36,804,158 (GRCm39)	P500Q	probably benign	Het
Celsr3	G	A	9: 108,712,269 (GRCm39)	W1732*	probably null	Het
Ces2g	T	C	8: 105,689,285 (GRCm39)	V87A	probably damaging	Het
Chil6	T	C	3: 106,301,641 (GRCm39)	N153S	possibly damaging	Het
Chrna5	A	T	9: 54,909,718 (GRCm39)	D113V	probably benign	Het
Cimip2b	T	G	4: 43,427,273 (GRCm39)		probably null	Het
Cox20	A	G	1: 178,150,164 (GRCm39)	T113A	probably benign	Het
Cryl1	T	C	14: 57,541,148 (GRCm39)	I179V	probably benign	Het
Dennd3	A	G	15: 73,434,275 (GRCm39)	T982A	probably damaging	Het
Drosha	G	A	15: 12,859,522 (GRCm39)	V577I	probably benign	Het
Dync2h1	A	G	9: 7,117,570 (GRCm39)	S2240P	probably benign	Het
Eif1ad14	T	A	12: 87,886,248 (GRCm39)	D127V	unknown	Het
Fbxl5	C	T	5: 43,916,116 (GRCm39)	S432N	probably benign	Het
Fez1	T	A	9: 36,772,146 (GRCm39)	S150R	probably benign	Het
Gabrb2	T	G	11: 42,378,039 (GRCm39)	M85R	probably damaging	Het
Lhx4	A	G	1: 155,580,617 (GRCm39)	V203A	probably damaging	Het
Med23	G	A	10: 24,780,282 (GRCm39)	D977N	probably damaging	Het
Mplkip	T	C	13: 17,870,367 (GRCm39)	F100L	probably damaging	Het
Ncoa7	C	T	10: 30,570,239 (GRCm39)	G240E	probably damaging	Het
Nedd4	A	G	9: 72,650,910 (GRCm39)	E827G	probably damaging	Het
Nfatc2	A	G	2: 168,413,065 (GRCm39)	F207L	probably benign	Het
Ocel1	A	G	8: 71,824,560 (GRCm39)	E81G	probably benign	Het
Or10aa3	T	C	1: 173,878,488 (GRCm39)	V183A	probably benign	Het
Or10g3b	C	A	14: 52,586,889 (GRCm39)	G205*	probably null	Het
Or4n4b	C	T	14: 50,536,604 (GRCm39)	G54E	possibly damaging	Het
Pcdh8	G	A	14: 80,005,086 (GRCm39)	P980S	probably benign	Het
Pex26	A	T	6: 121,170,510 (GRCm39)	Q285L	possibly damaging	Het
Pgap6	T	A	17: 26,339,423 (GRCm39)	M579K	probably damaging	Het
Plce1	A	T	19: 38,737,763 (GRCm39)	N1603I	probably benign	Het
Poli	A	T	18: 70,642,698 (GRCm39)	C501S	probably benign	Het
Ppp4r4	C	T	12: 103,550,404 (GRCm39)	T276I	probably damaging	Het
Rbpj	T	A	5: 53,747,693 (GRCm39)	M1K	probably null	Het
Recql4	T	A	15: 76,587,982 (GRCm39)	M1204L	probably benign	Het
Ribc2	T	C	15: 85,025,876 (GRCm39)	I284T	probably benign	Het
Rreb1	C	A	13: 38,114,362 (GRCm39)	Q574K	probably benign	Het
Scn9a	A	T	2: 66,357,424 (GRCm39)	L959Q	probably damaging	Het
Shank1	C	A	7: 43,969,093 (GRCm39)	H329Q	unknown	Het
Soat2	A	T	15: 102,071,013 (GRCm39)	D469V	probably damaging	Het
Spag7	T	A	11: 70,555,691 (GRCm39)	H82L	probably damaging	Het
Sptb	T	C	12: 76,675,271 (GRCm39)	I248V	probably benign	Het
Tacr3	A	G	3: 134,566,843 (GRCm39)	I239V	probably benign	Het
Tbc1d1	T	C	5: 64,414,133 (GRCm39)	F165L	probably benign	Het
Tchhl1	A	G	3: 93,378,451 (GRCm39)	E385G	probably benign	Het
Tecta	C	T	9: 42,248,532 (GRCm39)	D1957N	probably damaging	Het
Tenm2	T	C	11: 35,938,174 (GRCm39)	I1501V	probably benign	Het
Tet2	G	T	3: 133,192,146 (GRCm39)	Q763K	probably benign	Het
Timd6	A	C	11: 46,475,200 (GRCm39)	S132R	probably benign	Het
Tox3	G	A	8: 90,975,617 (GRCm39)	T338I	probably damaging	Het
Usp30	G	A	5: 114,259,730 (GRCm39)	D479N	probably damaging	Het
Vmn1r27	T	C	6: 58,192,785 (GRCm39)	D73G	possibly damaging	Het
Vmn1r27	A	T	6: 58,192,879 (GRCm39)	S42T	probably benign	Het
Vmn2r120	A	T	17: 57,816,258 (GRCm39)	V699D	possibly damaging	Het
Vwa2	A	T	19: 56,897,767 (GRCm39)	T691S	probably benign	Het
Wdr31	T	A	4: 62,381,666 (GRCm39)	Q55L	probably benign	Het
Xdh	A	G	17: 74,204,040 (GRCm39)	F1107L	probably benign	Het
Zfp184	A	G	13: 22,143,887 (GRCm39)	H531R	probably damaging	Het
Zfp366	T	C	13: 99,365,709 (GRCm39)	L290P	probably damaging	Het

Other mutations in Nr2f1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Nr2f1	APN	13	78,337,952 (GRCm39)	missense	probably damaging	1.00
IGL00553:Nr2f1	APN	13	78,346,361 (GRCm39)	missense	probably damaging	1.00
IGL00821:Nr2f1	APN	13	78,346,233 (GRCm39)	unclassified	probably benign
IGL02346:Nr2f1	APN	13	78,343,527 (GRCm39)	missense	probably damaging	1.00
IGL02586:Nr2f1	APN	13	78,343,275 (GRCm39)	unclassified	probably benign
IGL02587:Nr2f1	APN	13	78,343,275 (GRCm39)	unclassified	probably benign
IGL02588:Nr2f1	APN	13	78,343,275 (GRCm39)	unclassified	probably benign
R1470:Nr2f1	UTSW	13	78,346,284 (GRCm39)	missense	possibly damaging	0.94
R1470:Nr2f1	UTSW	13	78,346,284 (GRCm39)	missense	possibly damaging	0.94
R1865:Nr2f1	UTSW	13	78,338,045 (GRCm39)	missense	probably damaging	1.00
R1959:Nr2f1	UTSW	13	78,337,935 (GRCm39)	missense	probably damaging	1.00
R2284:Nr2f1	UTSW	13	78,343,581 (GRCm39)	missense	probably damaging	1.00
R3861:Nr2f1	UTSW	13	78,343,794 (GRCm39)	nonsense	probably null
R4542:Nr2f1	UTSW	13	78,337,940 (GRCm39)	missense	probably damaging	1.00
R6248:Nr2f1	UTSW	13	78,344,611 (GRCm39)	intron	probably benign
R6285:Nr2f1	UTSW	13	78,343,782 (GRCm39)	missense	probably benign	0.01
R7305:Nr2f1	UTSW	13	78,343,298 (GRCm39)	missense	probably damaging	1.00
R7496:Nr2f1	UTSW	13	78,343,361 (GRCm39)	missense	probably damaging	1.00
R7884:Nr2f1	UTSW	13	78,337,988 (GRCm39)	missense	probably benign	0.03
R7954:Nr2f1	UTSW	13	78,338,113 (GRCm39)	missense	probably damaging	1.00
R8030:Nr2f1	UTSW	13	78,343,565 (GRCm39)	missense	probably benign	0.36
R8875:Nr2f1	UTSW	13	78,337,970 (GRCm39)	missense	probably damaging	1.00
R8959:Nr2f1	UTSW	13	78,337,873 (GRCm39)	nonsense	probably null
R9115:Nr2f1	UTSW	13	78,337,869 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCTGCAGATCCGGGAAGAAC -3'
(R):5'- GTGATCTGTGAGTAAGACCCAGC -3'

Sequencing Primer
(F):5'- AACGGGATGTTGCGGGC -3'
(R):5'- AACCACAGTGCGTTGGGTG -3'

Posted On

2019-10-07