Mutagenetix > Incidental Mutation

Incidental Mutation 'R6248:Nr2f1'

505631

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6248 (G1)

Quality Score

103.008

Status

Not validated

Chromosome

Chromosomal Location

78337090-78346954 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 78344611 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153321 (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

SMART Domains

Protein: ENSMUSP00000089036
Gene: ENSMUSG00000069171

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

SMART Domains

Protein: ENSMUSP00000122618
Gene: ENSMUSG00000069171

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

Predicted Effect

probably benign
Transcript: ENSMUST00000127137

SMART Domains

Protein: ENSMUSP00000133704
Gene: ENSMUSG00000069171

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137199

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144545

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145613

Predicted Effect

probably benign
Transcript: ENSMUST00000150498

SMART Domains

Protein: ENSMUSP00000118161
Gene: ENSMUSG00000069171

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

Predicted Effect

probably benign
Transcript: ENSMUST00000224798

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

Validation Efficiency

100% (92/92)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	T	C	1: 159,902,978 (GRCm39)	S83P	possibly damaging	Het
Actr10	A	T	12: 70,999,733 (GRCm39)	E176D	probably benign	Het
Adcy3	G	A	12: 4,258,662 (GRCm39)		probably null	Het
AI429214	T	A	8: 37,461,278 (GRCm39)	I142N	probably damaging	Het
Alox12	A	G	11: 70,143,936 (GRCm39)	L148S	probably damaging	Het
Ank3	A	G	10: 69,809,680 (GRCm39)	I1147V	probably benign	Het
Apoc2	C	T	7: 19,407,493 (GRCm39)	V12I	probably benign	Het
Arap3	T	C	18: 38,124,407 (GRCm39)	S311G	probably benign	Het
Arih2	G	T	9: 108,488,841 (GRCm39)	H292Q	probably damaging	Het
Cdc14a	A	T	3: 116,101,843 (GRCm39)	D312E	probably benign	Het
Cdh12	T	G	15: 21,237,800 (GRCm39)	W12G	possibly damaging	Het
Cisd2	A	T	3: 135,114,616 (GRCm39)	N118K	probably damaging	Het
Cntnap5b	A	G	1: 99,999,827 (GRCm39)	Q195R	probably benign	Het
Cyp2r1	A	G	7: 114,161,966 (GRCm39)		probably null	Het
Cyp4f37	A	G	17: 32,848,864 (GRCm39)	D244G	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dido1	T	A	2: 180,302,048 (GRCm39)	H1952L	probably damaging	Het
Dnah10	T	A	5: 124,871,283 (GRCm39)		probably null	Het
Dnal4	T	A	15: 79,646,714 (GRCm39)	M56L	probably damaging	Het
Emilin2	A	G	17: 71,581,112 (GRCm39)	V538A	probably benign	Het
Eps8l2	A	G	7: 140,922,015 (GRCm39)	D31G	probably damaging	Het
Erp44	A	T	4: 48,219,479 (GRCm39)	L112*	probably null	Het
Etl4	C	T	2: 20,813,900 (GRCm39)	T1907I	possibly damaging	Het
Exoc3	A	G	13: 74,330,400 (GRCm39)	F510L	probably benign	Het
Fam114a2	G	T	11: 57,383,942 (GRCm39)	T324K	possibly damaging	Het
Fer1l4	G	A	2: 155,888,091 (GRCm39)	R465C	probably damaging	Het
Frmd4b	A	C	6: 97,436,173 (GRCm39)	S2R	probably benign	Het
Fscn1	A	T	5: 142,946,778 (GRCm39)	D192V	possibly damaging	Het
Gm3486	T	A	14: 41,206,472 (GRCm39)	*200C	probably null	Het
Gusb	A	T	5: 130,029,366 (GRCm39)	H138Q	probably benign	Het
Hdac9	A	T	12: 34,578,293 (GRCm39)	M4K	possibly damaging	Het
Hhipl1	G	T	12: 108,284,964 (GRCm39)	R439L	probably benign	Het
Hoxd9	A	G	2: 74,528,980 (GRCm39)	E194G	probably benign	Het
Itgb1	A	G	8: 129,448,902 (GRCm39)	S503G	possibly damaging	Het
Kcnt2	T	A	1: 140,437,216 (GRCm39)	C500S	probably damaging	Het
Kdm7a	G	A	6: 39,123,983 (GRCm39)	S727L	possibly damaging	Het
Klhdc4	A	G	8: 122,540,507 (GRCm39)	F92L	probably damaging	Het
Klrb1a	A	G	6: 128,596,137 (GRCm39)	V62A	probably damaging	Het
Krit1	A	G	5: 3,863,032 (GRCm39)		probably null	Het
Krt40	A	G	11: 99,432,566 (GRCm39)	I150T	possibly damaging	Het
Larp4b	A	G	13: 9,208,738 (GRCm39)	T464A	probably benign	Het
Lrrc52	T	G	1: 167,293,964 (GRCm39)	D107A	probably damaging	Het
Mapkap1	G	T	2: 34,408,692 (GRCm39)	V35F	probably damaging	Het
Mccc1	A	G	3: 36,044,313 (GRCm39)	V171A	probably damaging	Het
Metap1d	A	T	2: 71,346,104 (GRCm39)	R222*	probably null	Het
Mrgpre	G	A	7: 143,334,603 (GRCm39)	A300V	probably benign	Het
Mterf1b	C	A	5: 4,246,606 (GRCm39)	N82K	probably benign	Het
Myh9	C	T	15: 77,669,422 (GRCm39)	W533*	probably null	Het
Myom2	A	G	8: 15,148,472 (GRCm39)		probably null	Het
Ncor1	G	A	11: 62,257,808 (GRCm39)	P329S	probably damaging	Het
Or10x1	T	G	1: 174,197,236 (GRCm39)	V251G	probably benign	Het
Or11a4	T	A	17: 37,536,451 (GRCm39)	L145*	probably null	Het
Or2a57	C	T	6: 43,212,838 (GRCm39)	Q99*	probably null	Het
Or2w6	A	T	13: 21,843,244 (GRCm39)	I83N	possibly damaging	Het
Or52p2	T	C	7: 102,237,237 (GRCm39)	T238A	probably benign	Het
Or6c210	A	G	10: 129,496,532 (GRCm39)	I286V	probably benign	Het
Or6z1	A	T	7: 6,504,675 (GRCm39)	C183*	probably null	Het
Pcdha11	T	C	18: 37,138,950 (GRCm39)	L193P	probably benign	Het
Pcdhb20	T	A	18: 37,639,285 (GRCm39)	F604I	probably damaging	Het
Pde1a	T	C	2: 79,708,545 (GRCm39)	H291R	probably damaging	Het
Pfkm	G	A	15: 98,024,260 (GRCm39)	V423M	probably damaging	Het
Pira1	C	A	7: 3,739,337 (GRCm39)	E510D	probably benign	Het
Pkd2l1	G	T	19: 44,146,108 (GRCm39)	Q149K	probably benign	Het
Pkhd1l1	T	A	15: 44,392,955 (GRCm39)	N1763K	probably benign	Het
Pla2g4a	G	A	1: 149,748,338 (GRCm39)	T282I	probably damaging	Het
Prpf39	A	C	12: 65,089,528 (GRCm39)	N89H	probably damaging	Het
Rad54l2	A	G	9: 106,587,537 (GRCm39)	F743L	probably damaging	Het
Raver2	A	G	4: 100,991,320 (GRCm39)		probably null	Het
Ric8b	T	C	10: 84,783,709 (GRCm39)	L189P	probably damaging	Het
Sccpdh	T	C	1: 179,495,957 (GRCm39)	F13L	probably benign	Het
Scd2	T	C	19: 44,291,448 (GRCm39)	F296L	probably damaging	Het
Scg2	G	T	1: 79,414,023 (GRCm39)	D233E	probably benign	Het
Sema5b	C	A	16: 35,448,377 (GRCm39)		probably null	Het
Skint5	A	T	4: 113,636,286 (GRCm39)	V644E	unknown	Het
Slc44a5	G	T	3: 153,969,678 (GRCm39)	V612F	possibly damaging	Het
Snd1	C	T	6: 28,520,234 (GRCm39)	R107*	probably null	Het
Sun5	G	T	2: 153,702,589 (GRCm39)	T189K	probably damaging	Het
Tap1	A	T	17: 34,412,151 (GRCm39)	E452V	probably damaging	Het
Tcam1	A	G	11: 106,173,652 (GRCm39)	N32S	probably benign	Het
Tep1	T	C	14: 51,067,715 (GRCm39)	E2167G	probably damaging	Het
Tm9sf1	C	T	14: 55,873,827 (GRCm39)	R557H	probably damaging	Het
Tmem175	T	C	5: 108,793,821 (GRCm39)	V317A	probably damaging	Het
Tsga13	A	G	6: 30,874,139 (GRCm39)	V231A	probably benign	Het
Tspan12	A	G	6: 21,799,970 (GRCm39)	S126P	probably damaging	Het
Uvrag	G	T	7: 98,637,398 (GRCm39)	D143E	probably damaging	Het
Vmn1r230	T	A	17: 21,067,036 (GRCm39)	M75K	possibly damaging	Het
Vmn2r120	A	T	17: 57,852,287 (GRCm39)	F10I	probably benign	Het
Vmn2r57	T	C	7: 41,049,284 (GRCm39)	T822A	probably benign	Het
Vmn2r67	T	C	7: 84,799,768 (GRCm39)	Y490C	probably damaging	Het
Zc3h7b	T	A	15: 81,667,386 (GRCm39)	W644R	probably damaging	Het
Zeb1	A	G	18: 5,766,962 (GRCm39)	D491G	probably damaging	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		probably benign	Het
Zfp831	A	T	2: 174,486,308 (GRCm39)	T328S	possibly 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
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
R7653:Nr2f1	UTSW	13	78,343,716 (GRCm39)	missense	probably benign	0.32
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

Posted On

2018-02-28