Mutagenetix > Incidental Mutation

Incidental Mutation 'R9377:Nr2f2'

709693

Institutional Source

Beutler Lab

Gene Symbol

Nr2f2

Ensembl Gene

ENSMUSG00000030551

Gene Name

nuclear receptor subfamily 2, group F, member 2

Synonyms

COUP-TF2, EAR3, ARP-1, Tcfcoup2, 9430015G03Rik, COUP-TFII, Aporp1

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9377 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70001692-70016483 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70007856 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 209 (I209F)

Ref Sequence

ENSEMBL: ENSMUSP00000032768 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032768] [ENSMUST00000089565] [ENSMUST00000208081]

AlphaFold

P43135

Predicted Effect

probably damaging
Transcript: ENSMUST00000032768
AA Change: I209F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032768
Gene: ENSMUSG00000030551
AA Change: I209F

Domain	Start	End	E-Value	Type
low complexity region	21	75	N/A	INTRINSIC
ZnF_C4	76	147	4.57e-39	SMART
HOLI	214	374	1.29e-47	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000089565
AA Change: I76F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000086993
Gene: ENSMUSG00000030551
AA Change: I76F

Domain	Start	End	E-Value	Type
HOLI	81	241	5.2e-50	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000208081
AA Change: I56F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the steroid thyroid hormone superfamily of nuclear receptors. The encoded protein is a ligand inducible transcription factor that is involved in the regulation of many different genes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired angiogenesis and heart development with hemorrhagic brains and hearts, and die around embryonic day 10. About 5% of heterozygotes share the hemorrhagic phenotype at embryonic day 9.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	T	C	17: 48,348,273 (GRCm39)	T55A	probably benign	Het
3110070M22Rik	T	A	13: 119,624,822 (GRCm39)		probably benign	Het
Acot12	T	A	13: 91,918,221 (GRCm39)	N171K	probably benign	Het
Adam18	G	A	8: 25,104,859 (GRCm39)	Q652*	probably null	Het
Adgrv1	T	C	13: 81,705,277 (GRCm39)	E791G	probably damaging	Het
Aff1	C	T	5: 103,981,685 (GRCm39)	S608L	probably damaging	Het
Amfr	A	T	8: 94,707,018 (GRCm39)	F432L	probably damaging	Het
Ankfn1	G	A	11: 89,332,284 (GRCm39)	L421F	possibly damaging	Het
Ankrd31	T	C	13: 97,014,733 (GRCm39)	V1334A	probably benign	Het
Ascc3	C	T	10: 50,608,858 (GRCm39)	H1534Y	possibly damaging	Het
Aste1	G	A	9: 105,273,880 (GRCm39)	C40Y	probably benign	Het
Atf3	T	C	1: 190,909,510 (GRCm39)	H53R	probably benign	Het
Bsn	C	A	9: 107,990,800 (GRCm39)	V1651F	probably damaging	Het
Bsn	A	T	9: 107,993,361 (GRCm39)	L797Q	probably damaging	Het
Bzw2	T	C	12: 36,180,131 (GRCm39)	D32G	probably damaging	Het
Cacna1e	A	T	1: 154,361,458 (GRCm39)	M531K	possibly damaging	Het
Cep120	A	G	18: 53,851,592 (GRCm39)	F567L	possibly damaging	Het
Cit	T	C	5: 116,084,914 (GRCm39)	I815T	probably benign	Het
Cnot6l	G	T	5: 96,276,826 (GRCm39)	Q121K	probably benign	Het
Col4a2	G	A	8: 11,483,725 (GRCm39)	G882R	probably damaging	Het
Col6a3	A	G	1: 90,743,961 (GRCm39)	F536L	probably damaging	Het
Copg2	T	A	6: 30,793,721 (GRCm39)	H394L	possibly damaging	Het
Cst13	A	G	2: 148,670,165 (GRCm39)	M112V	possibly damaging	Het
Cyp2j7	G	T	4: 96,124,786 (GRCm39)	N37K	probably benign	Het
Cyp2u1	T	A	3: 131,091,449 (GRCm39)	N357I	possibly damaging	Het
Dars1	T	C	1: 128,344,945 (GRCm39)	T4A	probably benign	Het
Dclk1	G	T	3: 55,429,374 (GRCm39)	C414F	possibly damaging	Het
Dmbt1	A	T	7: 130,694,832 (GRCm39)	Y1009F	unknown	Het
Ebf4	T	C	2: 130,148,775 (GRCm39)	Y117H	probably damaging	Het
Eif2b4	A	G	5: 31,348,500 (GRCm39)	Y196H	probably benign	Het
Enpp2	C	T	15: 54,739,080 (GRCm39)	R401H	probably damaging	Het
Epo	T	C	5: 137,484,017 (GRCm39)		probably benign	Het
Gli1	T	A	10: 127,173,359 (GRCm39)	T100S	possibly damaging	Het
Gml2	T	A	15: 74,695,957 (GRCm39)	F117Y	probably benign	Het
Hivep1	T	C	13: 42,335,403 (GRCm39)	V2314A	probably benign	Het
Hspb8	A	G	5: 116,547,487 (GRCm39)	I165T	probably damaging	Het
Itgax	A	T	7: 127,732,849 (GRCm39)	T243S	probably benign	Het
Itih4	G	T	14: 30,608,533 (GRCm39)	L16F	probably damaging	Het
Kmt5a	C	T	5: 124,578,064 (GRCm39)		probably benign	Het
Lamc1	T	C	1: 153,115,009 (GRCm39)	E1089G	probably benign	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mcmbp	A	T	7: 128,317,803 (GRCm39)	N147K	probably benign	Het
Mical2	C	T	7: 111,981,246 (GRCm39)	L407F	probably benign	Het
Mybpc2	A	T	7: 44,158,999 (GRCm39)	V653D	probably benign	Het
Myo3b	G	A	2: 70,069,242 (GRCm39)	V522I	possibly damaging	Het
Nbr1	A	G	11: 101,456,590 (GRCm39)	T156A	possibly damaging	Het
Neb	T	A	2: 52,039,291 (GRCm39)		probably null	Het
Neb	T	A	2: 52,116,546 (GRCm39)	Y964F		Het
Nwd2	A	G	5: 63,957,740 (GRCm39)	T357A	probably damaging	Het
Palld	C	T	8: 61,969,691 (GRCm39)	R1211H	unknown	Het
Pcdhb19	T	A	18: 37,632,299 (GRCm39)	V698E	probably damaging	Het
Pcdhga6	C	T	18: 37,841,570 (GRCm39)	P430L	probably damaging	Het
Piezo2	A	G	18: 63,162,156 (GRCm39)	L2225S	possibly damaging	Het
Plekhf1	A	T	7: 37,921,203 (GRCm39)	W122R	probably damaging	Het
Pold3	A	G	7: 99,732,993 (GRCm39)	S418P	possibly damaging	Het
Poldip3	T	C	15: 83,019,589 (GRCm39)	N180S	probably benign	Het
Ppp1r21	C	T	17: 88,852,815 (GRCm39)	R65*	probably null	Het
Ppp1r3d	A	T	2: 178,055,669 (GRCm39)	V111E	probably damaging	Het
Prrg4	T	C	2: 104,669,728 (GRCm39)	I130V	probably benign	Het
Psma5	A	T	3: 108,172,448 (GRCm39)	T55S	probably benign	Het
Rbm5	C	A	9: 107,627,252 (GRCm39)	A440S	probably benign	Het
Rdx	A	G	9: 51,980,168 (GRCm39)	K254E	possibly damaging	Het
Rere	A	C	4: 150,593,342 (GRCm39)	Q312P	unknown	Het
Rest	T	C	5: 77,416,128 (GRCm39)	V114A	possibly damaging	Het
Rufy4	G	T	1: 74,171,879 (GRCm39)	V201L	probably benign	Het
Scyl1	T	C	19: 5,809,023 (GRCm39)	E727G	probably benign	Het
Serpinb6b	T	A	13: 33,152,494 (GRCm39)	M1K	probably null	Het
Sgsm1	C	A	5: 113,436,741 (GRCm39)	V30F	probably damaging	Het
Skap1	A	G	11: 96,644,921 (GRCm39)	D344G	possibly damaging	Het
Slc26a7	T	C	4: 14,516,189 (GRCm39)	T547A	probably benign	Het
Slc6a3	C	A	13: 73,692,966 (GRCm39)	S195R	probably benign	Het
Sorbs1	T	C	19: 40,387,048 (GRCm39)	D6G	probably damaging	Het
Spock3	A	T	8: 63,798,746 (GRCm39)	M253L	probably damaging	Het
Ssh2	A	G	11: 77,298,974 (GRCm39)	Y107C	possibly damaging	Het
Svil	T	C	18: 5,057,294 (GRCm39)	S581P	probably benign	Het
Tbc1d14	T	C	5: 36,662,472 (GRCm39)	T553A	probably benign	Het
Tet3	T	A	6: 83,380,596 (GRCm39)	Q524L	possibly damaging	Het
Uckl1	A	T	2: 181,211,532 (GRCm39)	V456E	probably damaging	Het
Ucp2	T	C	7: 100,146,040 (GRCm39)	F4S	probably benign	Het
Vmn2r77	A	G	7: 86,444,442 (GRCm39)	I32V	probably benign	Het
Vmn2r89	T	A	14: 51,692,601 (GRCm39)	Y135N	probably benign	Het
Vtn	A	G	11: 78,390,587 (GRCm39)	E82G	probably benign	Het
Zfp758	A	G	17: 22,593,925 (GRCm39)	N137S	probably benign	Het
Zgpat	T	A	2: 181,021,646 (GRCm39)	C357*	probably null	Het

Other mutations in Nr2f2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00672:Nr2f2	APN	7	70,007,514 (GRCm39)	missense	possibly damaging	0.88
IGL01736:Nr2f2	APN	7	70,004,446 (GRCm39)	missense	probably damaging	1.00
IGL02667:Nr2f2	APN	7	70,007,733 (GRCm39)	missense	probably damaging	1.00
R0149:Nr2f2	UTSW	7	70,007,810 (GRCm39)	missense	possibly damaging	0.90
R0206:Nr2f2	UTSW	7	70,009,923 (GRCm39)	missense	probably damaging	0.98
R0207:Nr2f2	UTSW	7	70,009,923 (GRCm39)	missense	probably damaging	0.98
R0240:Nr2f2	UTSW	7	70,009,923 (GRCm39)	missense	probably damaging	0.98
R0243:Nr2f2	UTSW	7	70,009,923 (GRCm39)	missense	probably damaging	0.98
R0361:Nr2f2	UTSW	7	70,007,810 (GRCm39)	missense	possibly damaging	0.90
R0540:Nr2f2	UTSW	7	70,004,460 (GRCm39)	missense	probably damaging	1.00
R0607:Nr2f2	UTSW	7	70,004,460 (GRCm39)	missense	probably damaging	1.00
R0741:Nr2f2	UTSW	7	70,007,745 (GRCm39)	missense	probably damaging	1.00
R1894:Nr2f2	UTSW	7	70,004,419 (GRCm39)	missense	probably benign	0.00
R1961:Nr2f2	UTSW	7	70,007,903 (GRCm39)	missense	possibly damaging	0.80
R3033:Nr2f2	UTSW	7	70,007,810 (GRCm39)	missense	possibly damaging	0.90
R3754:Nr2f2	UTSW	7	70,007,769 (GRCm39)	missense	probably benign	0.01
R4517:Nr2f2	UTSW	7	70,007,870 (GRCm39)	missense	probably benign	0.21
R6175:Nr2f2	UTSW	7	70,007,946 (GRCm39)	missense	probably damaging	1.00
R6226:Nr2f2	UTSW	7	70,009,744 (GRCm39)	missense	probably benign	0.00
R7544:Nr2f2	UTSW	7	70,004,499 (GRCm39)	missense	probably damaging	1.00
R7796:Nr2f2	UTSW	7	70,007,901 (GRCm39)	missense	probably benign	0.03
R7894:Nr2f2	UTSW	7	70,009,681 (GRCm39)	missense	probably damaging	1.00
R9411:Nr2f2	UTSW	7	70,007,525 (GRCm39)	missense
R9513:Nr2f2	UTSW	7	70,010,056 (GRCm39)	missense	probably damaging	0.98
Z1176:Nr2f2	UTSW	7	70,007,526 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GTATGTGGTCCATAAAAGCGAC -3'
(R):5'- TCCTGCAGCTGTACAGAGAG -3'

Sequencing Primer
(F):5'- CTGACATGGGTGAAGCGTGC -3'
(R):5'- CTGTACAGAGAGGCAGGATGC -3'

Posted On

2022-04-18