Mutagenetix > Incidental Mutation

Incidental Mutation 'R8030:Nr2f1'

617912

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 #

R8030 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78337090-78346954 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78343565 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 233 (N233S)

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: N233S

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000089036
Gene: ENSMUSG00000069171
AA Change: N233S

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: N86S

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000122618
Gene: ENSMUSG00000069171
AA Change: N86S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000127137
AA Change: N76S

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000133704
Gene: ENSMUSG00000069171
AA Change: N76S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000150498
AA Change: N76S

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000118161
Gene: ENSMUSG00000069171
AA Change: N76S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000224798
AA Change: N86S

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B09Rik	A	G	9: 14,672,970 (GRCm39)	S98P	probably benign	Het
Abca9	C	T	11: 110,011,534 (GRCm39)	V1170I	probably benign	Het
Acacb	A	G	5: 114,371,228 (GRCm39)	T1786A	probably damaging	Het
Acmsd	T	C	1: 127,676,898 (GRCm39)	I141T	possibly damaging	Het
Akr1c12	A	G	13: 4,322,244 (GRCm39)	V266A	possibly damaging	Het
Arhgef18	A	T	8: 3,489,600 (GRCm39)	I311F	probably damaging	Het
Armc2	T	A	10: 41,842,738 (GRCm39)	N355I	possibly damaging	Het
Armh1	T	A	4: 117,087,184 (GRCm39)	K160N	probably benign	Het
Asic1	A	T	15: 99,592,722 (GRCm39)	T236S	possibly damaging	Het
Avl9	T	A	6: 56,718,407 (GRCm39)	D424E	probably damaging	Het
Cbfa2t2	A	T	2: 154,357,816 (GRCm39)	Q197L	probably damaging	Het
Ccdc136	T	C	6: 29,417,141 (GRCm39)	V654A	probably benign	Het
Cd177	C	T	7: 24,455,594 (GRCm39)	W309*	probably null	Het
Cplane1	G	T	15: 8,259,787 (GRCm39)	G2383V	probably damaging	Het
Cracr2a	A	G	6: 127,588,386 (GRCm39)	K182E	probably damaging	Het
Dpys	T	C	15: 39,691,486 (GRCm39)	T279A	possibly damaging	Het
Dsc1	A	T	18: 20,222,628 (GRCm39)	S615T	probably benign	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Efcab14	A	G	4: 115,623,599 (GRCm39)	Q390R	probably benign	Het
Eif4ebp2	G	A	10: 61,270,825 (GRCm39)	A68V	probably damaging	Het
Fam81a	A	G	9: 70,010,191 (GRCm39)	S149P	probably benign	Het
Ffar4	A	G	19: 38,095,839 (GRCm39)	I193V	possibly damaging	Het
Flvcr2	T	A	12: 85,845,312 (GRCm39)	V377D	probably damaging	Het
Fscn1	C	T	5: 142,946,756 (GRCm39)	R185C	possibly damaging	Het
Gucy1b2	C	T	14: 62,630,319 (GRCm39)	S809N	probably benign	Het
H60b	T	A	10: 22,163,020 (GRCm39)	N198K	probably damaging	Het
Helz2	A	T	2: 180,879,689 (GRCm39)	F643Y	possibly damaging	Het
Kash5	CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC	CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC	7: 44,837,608 (GRCm39)		probably benign	Het
Kif28	A	G	1: 179,526,629 (GRCm39)	V846A	probably benign	Het
Kirrel1	C	A	3: 87,005,082 (GRCm39)	G89W	probably damaging	Het
Krt42	G	C	11: 100,155,865 (GRCm39)	R294G	possibly damaging	Het
Mb21d2	A	G	16: 28,646,555 (GRCm39)	F473S	probably damaging	Het
Mcrip2	G	A	17: 26,083,306 (GRCm39)	Q111*	probably null	Het
Msh5	A	G	17: 35,248,724 (GRCm39)	Y741H	possibly damaging	Het
Myo7b	A	G	18: 32,131,135 (GRCm39)	I544T	probably damaging	Het
Nav1	T	C	1: 135,464,977 (GRCm39)	E276G	probably damaging	Het
Nrip2	A	T	6: 128,383,484 (GRCm39)	D124V	possibly damaging	Het
Or5al1	C	T	2: 85,990,586 (GRCm39)	V43I	probably benign	Het
Or8k16	T	A	2: 85,520,063 (GRCm39)	C97S	probably damaging	Het
Panx2	G	T	15: 88,952,282 (GRCm39)	A250S	probably damaging	Het
Pdc	T	C	1: 150,208,964 (GRCm39)	L149P	probably damaging	Het
Pex5l	T	A	3: 33,008,568 (GRCm39)	I445F	possibly damaging	Het
Pigc	T	C	1: 161,798,116 (GRCm39)	F33L	probably damaging	Het
Pkp2	A	T	16: 16,064,774 (GRCm39)	M433L	probably benign	Het
Rbfox2	A	G	15: 76,969,776 (GRCm39)		probably null	Het
Rd3l	A	G	12: 111,946,584 (GRCm39)	L64P	possibly damaging	Het
Rnf220	A	G	4: 117,135,025 (GRCm39)	Y409H	probably damaging	Het
Rsf1	G	GACGGCGGCC	7: 97,229,116 (GRCm39)		probably benign	Het
Sel1l2	T	C	2: 140,082,938 (GRCm39)	T567A	probably damaging	Het
Slc22a8	T	C	19: 8,587,371 (GRCm39)	I477T	probably damaging	Het
Sltm	C	T	9: 70,493,261 (GRCm39)	R753*	probably null	Het
Specc1l	T	A	10: 75,084,389 (GRCm39)	M687K	probably damaging	Het
Spock3	T	G	8: 63,805,232 (GRCm39)	C338G	probably damaging	Het
Ssh2	C	A	11: 77,345,332 (GRCm39)	Q1106K	probably benign	Het
Sycp2l	A	G	13: 41,326,146 (GRCm39)	M251V	not run	Het
Tdrd5	C	A	1: 156,098,165 (GRCm39)	E711*	probably null	Het
Thop1	T	C	10: 80,911,450 (GRCm39)	M112T	possibly damaging	Het
Tln1	C	T	4: 43,535,737 (GRCm39)		probably null	Het
Ttc28	A	C	5: 111,433,922 (GRCm39)	I2319L	possibly damaging	Het
Ttll11	A	G	2: 35,792,685 (GRCm39)	I386T	probably damaging	Het
Txndc8	T	C	4: 57,984,178 (GRCm39)	E151G	probably damaging	Het
Ubr1	T	C	2: 120,764,855 (GRCm39)	E533G	probably damaging	Het
Zscan4f	A	G	7: 11,135,290 (GRCm39)	H232R	probably benign	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
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
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'- CTGAAAGATGCGGATGTGGTCC -3'
(R):5'- GTATGCACTCACAAACGGGG -3'

Sequencing Primer
(F):5'- GATGTGGTCCATGAAGGCC -3'
(R):5'- CAAACGGGGATCCTCTCAATGG -3'

Posted On

2020-01-23