Mutagenetix > Incidental Mutation

Incidental Mutation 'R6285:Nr2f1'

508201

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

044455-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6285 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78337090-78346954 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78343782 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 161 (T161A)

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: T161A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000089036
Gene: ENSMUSG00000069171
AA Change: T161A

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: T14A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000122618
Gene: ENSMUSG00000069171
AA Change: T14A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000127137
AA Change: T4A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000133704
Gene: ENSMUSG00000069171
AA Change: T4A

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
AA Change: T4A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000118161
Gene: ENSMUSG00000069171
AA Change: T4A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000224798
AA Change: T14A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0699

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.8%
20x: 96.9%

Validation Efficiency

100% (68/68)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	A	T	3: 36,136,324 (GRCm39)	M370L	probably benign	Het
Aimp1	A	G	3: 132,373,265 (GRCm39)	M225T	possibly damaging	Het
Atp8a1	T	C	5: 67,824,950 (GRCm39)	I809V	possibly damaging	Het
Bbs10	A	G	10: 111,135,622 (GRCm39)	Y245C	probably damaging	Het
Cabin1	A	T	10: 75,520,157 (GRCm39)	F1572Y	probably damaging	Het
Cd79a	A	G	7: 24,598,772 (GRCm39)	N107S	possibly damaging	Het
Cdc7	G	A	5: 107,130,925 (GRCm39)	A428T	probably benign	Het
Cep290	A	G	10: 100,359,191 (GRCm39)	T974A	probably benign	Het
Cep350	A	T	1: 155,829,120 (GRCm39)	N261K	possibly damaging	Het
Cfap46	T	A	7: 139,241,001 (GRCm39)	D8V	probably damaging	Het
Col6a4	T	C	9: 105,952,185 (GRCm39)	D571G	probably damaging	Het
Cpe	A	C	8: 65,070,645 (GRCm39)	V200G	probably benign	Het
Ctnnd1	C	T	2: 84,444,231 (GRCm39)		probably null	Het
D5Ertd579e	A	C	5: 36,772,921 (GRCm39)	C491W	probably damaging	Het
Dek	A	G	13: 47,252,856 (GRCm39)	I183T	probably damaging	Het
Dennd1a	A	T	2: 37,742,453 (GRCm39)	H437Q	possibly damaging	Het
Dido1	C	T	2: 180,302,940 (GRCm39)	A1655T	probably benign	Het
Eva1b	A	G	4: 126,043,278 (GRCm39)	D106G	probably damaging	Het
Evc2	G	T	5: 37,581,923 (GRCm39)	S1189I	possibly damaging	Het
Faap100	A	T	11: 120,267,558 (GRCm39)	L405Q	probably damaging	Het
Fbxw15	T	A	9: 109,386,234 (GRCm39)	M249L	probably benign	Het
Gbp10	A	T	5: 105,366,326 (GRCm39)	L526Q	probably damaging	Het
Gm19402	A	C	10: 77,526,354 (GRCm39)		probably benign	Het
Gm2244	A	G	14: 19,590,865 (GRCm39)	Y141H	probably damaging	Het
Gm4181	A	T	14: 51,870,666 (GRCm39)	N98K	probably damaging	Het
Golga4	C	T	9: 118,387,695 (GRCm39)	R616*	probably null	Het
Gpank1	T	A	17: 35,343,266 (GRCm39)	S226T	probably damaging	Het
Hipk3	T	C	2: 104,301,770 (GRCm39)	M141V	probably damaging	Het
Hoxc11	T	C	15: 102,863,178 (GRCm39)	V73A	probably benign	Het
Igf1r	T	G	7: 67,653,885 (GRCm39)	I141S	possibly damaging	Het
Jak2	T	A	19: 29,273,059 (GRCm39)	F628I	probably benign	Het
Kcp	C	A	6: 29,502,364 (GRCm39)	V227L	probably benign	Het
Knl1	T	G	2: 118,902,422 (GRCm39)	C1374W	probably damaging	Het
Larp6	A	T	9: 60,645,043 (GRCm39)	R394S	probably benign	Het
Lilra5	G	A	7: 4,245,114 (GRCm39)	G253R	probably damaging	Het
Map3k4	A	G	17: 12,482,945 (GRCm39)	S591P	probably damaging	Het
Mdfic2	T	C	6: 98,215,134 (GRCm39)	D163G	probably damaging	Het
Minar2	A	G	18: 59,205,296 (GRCm39)	K28R	probably benign	Het
Mrpl16	T	A	19: 11,750,332 (GRCm39)	I72K	probably damaging	Het
Nol11	C	G	11: 107,071,860 (GRCm39)	R244S	probably benign	Het
Nrdc	G	T	4: 108,895,203 (GRCm39)	V476F	probably damaging	Het
Or10j7	G	T	1: 173,011,477 (GRCm39)	H175N	probably damaging	Het
Or10z1	A	T	1: 174,078,395 (GRCm39)	S33T	possibly damaging	Het
Or13a22	T	A	7: 140,072,626 (GRCm39)	L25Q	possibly damaging	Het
Or13m2-ps1	A	T	6: 42,777,843 (GRCm39)	H56L	probably benign	Het
P2rx1	A	G	11: 72,898,974 (GRCm39)	I62V	probably benign	Het
Pcdhgc5	A	T	18: 37,953,674 (GRCm39)	Y316F	probably benign	Het
Pecam1	T	C	11: 106,576,065 (GRCm39)	D490G	probably benign	Het
Pfkfb2	A	T	1: 130,635,299 (GRCm39)	Y87*	probably null	Het
Poldip2	A	G	11: 78,408,458 (GRCm39)		probably null	Het
Ppp2r5b	T	A	19: 6,280,566 (GRCm39)	Q304L	probably benign	Het
Pramel26	A	G	4: 143,542,609 (GRCm39)	C4R	probably damaging	Het
Psg26	A	G	7: 18,216,753 (GRCm39)	F29L	probably benign	Het
Ptk6	A	T	2: 180,838,886 (GRCm39)	L289Q	probably null	Het
Ptprt	A	T	2: 161,743,417 (GRCm39)	I508N	possibly damaging	Het
Rasgrp4	T	C	7: 28,847,808 (GRCm39)	F406S	probably damaging	Het
Rspo3	A	G	10: 29,375,926 (GRCm39)		probably null	Het
Septin8	G	T	11: 53,425,594 (GRCm39)		probably null	Het
Sirt2	A	C	7: 28,487,471 (GRCm39)	T345P	probably benign	Het
Slc6a20b	T	C	9: 123,438,161 (GRCm39)	E205G	possibly damaging	Het
Sqstm1	G	A	11: 50,093,418 (GRCm39)	Q327*	probably null	Het
Susd3	T	A	13: 49,390,997 (GRCm39)	S98C	probably damaging	Het
Tada2b	G	A	5: 36,634,186 (GRCm39)	R56W	probably damaging	Het
Tbc1d2	A	T	4: 46,615,045 (GRCm39)	V546E	possibly damaging	Het
Tbx6	A	G	7: 126,380,740 (GRCm39)	Q21R	possibly damaging	Het
Usp24	T	G	4: 106,231,297 (GRCm39)		probably null	Het
Vinac1	T	G	2: 128,879,719 (GRCm39)	T736P	possibly damaging	Het
Vmn2r103	A	G	17: 20,032,406 (GRCm39)	T727A	probably benign	Het
Wdr48	C	T	9: 119,749,676 (GRCm39)	T531M	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
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

PCR Primer
(F):5'- AGCTCGCAGATGTTCTCGATG -3'
(R):5'- CCGGTGAAGGTAGATGACTTCAC -3'

Sequencing Primer
(F):5'- CAGATGTTCTCGATGCCCATGATG -3'
(R):5'- GGTAGATGACTTCACCCTAGATC -3'

Posted On

2018-03-15