Mutagenetix > Incidental Mutation

Incidental Mutation 'R0548:Rxrg'

44944

Institutional Source

Beutler Lab

Gene Symbol

Rxrg

Ensembl Gene

ENSMUSG00000015843

Gene Name

retinoid X receptor gamma

Synonyms

Nr2b3

MMRRC Submission

038740-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.826) question?

Stock #

R0548 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

167425953-167467192 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 167458788 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000107017 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015987] [ENSMUST00000111380] [ENSMUST00000111384] [ENSMUST00000111386]

AlphaFold

P28705

Predicted Effect

probably benign
Transcript: ENSMUST00000015987

SMART Domains

Protein: ENSMUSP00000015987
Gene: ENSMUSG00000015843

Domain	Start	End	E-Value	Type
Pfam:Nuc_recep-AF1	25	134	1.2e-39	PFAM
ZnF_C4	136	207	6.92e-39	SMART
HOLI	271	430	2.7e-50	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111380

SMART Domains

Protein: ENSMUSP00000107011
Gene: ENSMUSG00000015843

Domain	Start	End	E-Value	Type
ZnF_C4	13	84	6.92e-39	SMART
HOLI	148	307	2.7e-50	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111384

SMART Domains

Protein: ENSMUSP00000107015
Gene: ENSMUSG00000015843

Domain	Start	End	E-Value	Type
Pfam:Nuc_recep-AF1	24	134	3.4e-35	PFAM
ZnF_C4	136	207	6.92e-39	SMART
HOLI	271	430	2.7e-50	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111386

SMART Domains

Protein: ENSMUSP00000107017
Gene: ENSMUSG00000015843

Domain	Start	End	E-Value	Type
Pfam:Nuc_recep-AF1	24	134	3.4e-35	PFAM
ZnF_C4	136	207	6.92e-39	SMART
HOLI	271	430	2.7e-50	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

97% (62/64)

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 retinoid X receptor (RXR) family of nuclear receptors which are involved in mediating the antiproliferative effects of retinoic acid (RA). This receptor forms dimers with the retinoic acid, thyroid hormone, and vitamin D receptors, increasing both DNA binding and transcriptional function on their respective response elements. This gene is expressed at significantly lower levels in non-small cell lung cancer cells. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2010]
PHENOTYPE: Targeted disruption of exon 2 causes a 25% reduction of neurons in the striatum and may lead to premature death and altered responses to the administration of dopamine antagonists on some genetic backgrounds. [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
Adam39	T	G	8: 41,279,504 (GRCm39)	C632G	probably damaging	Het
Adamtsl3	T	C	7: 82,178,191 (GRCm39)		probably null	Het
Agfg1	A	G	1: 82,864,152 (GRCm39)	T447A	probably damaging	Het
Ankrd37	C	T	8: 46,451,433 (GRCm39)		probably null	Het
Apob	A	T	12: 8,056,282 (GRCm39)	D1555V	probably damaging	Het
Asxl3	T	A	18: 22,654,849 (GRCm39)		probably benign	Het
Brca2	C	A	5: 150,468,400 (GRCm39)	D2242E	probably damaging	Het
Car5b	G	A	X: 162,762,297 (GRCm39)	R282C	probably damaging	Het
Cdk5rap2	A	T	4: 70,267,379 (GRCm39)		probably null	Het
Cox10	A	T	11: 63,867,178 (GRCm39)	Y273N	probably damaging	Het
Dcbld2	A	T	16: 58,275,508 (GRCm39)	D408V	probably damaging	Het
Enam	A	T	5: 88,650,964 (GRCm39)	E824D	probably damaging	Het
Epm2aip1	T	C	9: 111,102,409 (GRCm39)	Y461H	probably damaging	Het
Fam72a	T	A	1: 131,461,599 (GRCm39)	S95T	probably damaging	Het
Fiz1	A	T	7: 5,012,167 (GRCm39)	V117D	possibly damaging	Het
Gm10355	C	T	3: 101,214,376 (GRCm39)		noncoding transcript	Het
Gm11595	A	T	11: 99,662,967 (GRCm39)	C238S	unknown	Het
Gm7589	T	G	9: 59,053,439 (GRCm39)		noncoding transcript	Het
H6pd	A	T	4: 150,066,073 (GRCm39)	V771E	probably damaging	Het
Htt	T	C	5: 35,028,090 (GRCm39)	L1782P	probably damaging	Het
Il33	T	C	19: 29,932,047 (GRCm39)	S147P	probably benign	Het
Lct	T	C	1: 128,212,932 (GRCm39)	Y1907C	probably damaging	Het
Lrp2	G	A	2: 69,367,982 (GRCm39)		probably benign	Het
Maco1	T	C	4: 134,533,971 (GRCm39)	D550G	probably damaging	Het
Map1b	T	C	13: 99,568,191 (GRCm39)	K1510R	unknown	Het
Marco	T	C	1: 120,419,767 (GRCm39)	T187A	probably benign	Het
Mki67	A	T	7: 135,298,637 (GRCm39)	N2132K	possibly damaging	Het
Mki67	T	A	7: 135,296,985 (GRCm39)	K2683M	probably damaging	Het
Mmp15	T	C	8: 96,098,979 (GRCm39)	V602A	probably damaging	Het
Mphosph10	T	A	7: 64,028,548 (GRCm39)	M536L	probably benign	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
N4bp2	G	T	5: 65,965,496 (GRCm39)	V1182L	probably benign	Het
Nlrc5	C	A	8: 95,248,411 (GRCm39)	F1715L	probably null	Het
Nsd2	T	A	5: 34,050,882 (GRCm39)	V1253E	probably damaging	Het
Numa1	T	C	7: 101,644,731 (GRCm39)	S236P	possibly damaging	Het
Or2a52	T	A	6: 43,144,121 (GRCm39)	I43K	probably benign	Het
Or4c120	C	A	2: 89,000,992 (GRCm39)	C188F	probably damaging	Het
Or8g18	A	T	9: 39,149,667 (GRCm39)	S18T	probably benign	Het
Padi4	GCTGCGTACCTCCAC	GC	4: 140,475,760 (GRCm39)		probably benign	Het
Pi4ka	A	T	16: 17,125,582 (GRCm39)	N4K	possibly damaging	Het
Plxna4	A	T	6: 32,134,950 (GRCm39)	I1751N	probably damaging	Het
Postn	C	A	3: 54,274,997 (GRCm39)	S122*	probably null	Het
Ppp4r4	A	T	12: 103,579,074 (GRCm39)	R762*	probably null	Het
Rrm1	G	T	7: 102,116,274 (GRCm39)		probably null	Het
Rrp15	A	G	1: 186,468,431 (GRCm39)	V195A	probably benign	Het
Rtl1	T	A	12: 109,558,089 (GRCm39)	D1250V	probably damaging	Het
Scn10a	T	C	9: 119,494,994 (GRCm39)	K416E	probably benign	Het
Serping1	T	C	2: 84,600,425 (GRCm39)		probably benign	Het
Slc12a6	T	C	2: 112,166,269 (GRCm39)		probably null	Het
Smo	A	T	6: 29,759,585 (GRCm39)	Q639L	possibly damaging	Het
Synrg	T	C	11: 83,873,014 (GRCm39)		probably benign	Het
Tars2	T	C	3: 95,649,971 (GRCm39)	D470G	probably damaging	Het
Tln1	T	C	4: 43,542,709 (GRCm39)	N1399S	possibly damaging	Het
Tmem131	A	G	1: 36,877,119 (GRCm39)	V240A	probably damaging	Het
Tmem232	G	A	17: 65,689,615 (GRCm39)	T500I	probably benign	Het
Toporsl	G	A	4: 52,612,140 (GRCm39)	V678M	possibly damaging	Het
Vmn1r7	A	T	6: 57,002,066 (GRCm39)	F65I	probably damaging	Het
Wdfy4	C	T	14: 32,764,578 (GRCm39)	M2257I	probably benign	Het
Wdr20rt	T	A	12: 65,274,089 (GRCm39)	D344E	probably benign	Het
Xirp2	C	T	2: 67,344,758 (GRCm39)	A2333V	probably benign	Het
Zfyve16	T	C	13: 92,631,452 (GRCm39)	K1381R	probably benign	Het
Zscan18	G	T	7: 12,508,103 (GRCm39)	P466T	probably damaging	Het

Other mutations in Rxrg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00818:Rxrg	APN	1	167,454,857 (GRCm39)	splice site	probably benign
IGL01767:Rxrg	APN	1	167,454,884 (GRCm39)	missense	probably damaging	1.00
IGL02126:Rxrg	APN	1	167,462,029 (GRCm39)	missense	probably damaging	0.98
IGL03144:Rxrg	APN	1	167,426,327 (GRCm39)	missense	possibly damaging	0.53
gamma	UTSW	1	167,466,808 (GRCm39)	missense	possibly damaging	0.55
Xray	UTSW	1	167,458,788 (GRCm39)	splice site	probably benign
R0482:Rxrg	UTSW	1	167,458,606 (GRCm39)	missense	possibly damaging	0.94
R0734:Rxrg	UTSW	1	167,455,013 (GRCm39)	missense	probably damaging	1.00
R1294:Rxrg	UTSW	1	167,441,470 (GRCm39)	missense	probably benign
R1843:Rxrg	UTSW	1	167,426,321 (GRCm39)	start codon destroyed	probably benign	0.02
R2093:Rxrg	UTSW	1	167,454,893 (GRCm39)	missense	probably damaging	1.00
R2972:Rxrg	UTSW	1	167,466,715 (GRCm39)	missense	probably damaging	1.00
R2974:Rxrg	UTSW	1	167,466,715 (GRCm39)	missense	probably damaging	1.00
R3177:Rxrg	UTSW	1	167,463,269 (GRCm39)	missense	possibly damaging	0.64
R3277:Rxrg	UTSW	1	167,463,269 (GRCm39)	missense	possibly damaging	0.64
R4484:Rxrg	UTSW	1	167,452,596 (GRCm39)	missense	probably benign	0.03
R4721:Rxrg	UTSW	1	167,452,621 (GRCm39)	missense	probably damaging	1.00
R5267:Rxrg	UTSW	1	167,463,335 (GRCm39)	missense	probably damaging	0.98
R5323:Rxrg	UTSW	1	167,452,573 (GRCm39)	missense	probably benign
R5858:Rxrg	UTSW	1	167,454,925 (GRCm39)	missense	probably damaging	1.00
R5921:Rxrg	UTSW	1	167,466,808 (GRCm39)	missense	possibly damaging	0.55
R6142:Rxrg	UTSW	1	167,460,191 (GRCm39)	missense	possibly damaging	0.69
R6370:Rxrg	UTSW	1	167,462,006 (GRCm39)	missense	probably damaging	1.00
R6595:Rxrg	UTSW	1	167,454,905 (GRCm39)	missense	probably damaging	1.00
R6702:Rxrg	UTSW	1	167,441,374 (GRCm39)	missense	probably benign
R7133:Rxrg	UTSW	1	167,458,678 (GRCm39)	missense	probably benign	0.00
R7934:Rxrg	UTSW	1	167,454,927 (GRCm39)	missense	probably damaging	0.97
R8984:Rxrg	UTSW	1	167,462,005 (GRCm39)	missense	possibly damaging	0.91
R9340:Rxrg	UTSW	1	167,458,890 (GRCm39)	missense	possibly damaging	0.61

Predicted Primers

PCR Primer
(F):5'- AATGTGCCAGTAGTAGCCACGAAG -3'
(R):5'- AAAAGAGCCCGTCTAGGGGATTGTC -3'

Sequencing Primer
(F):5'- TAGTAGCCACGAAGACATGC -3'
(R):5'- TTGTCTCAGGGCAAGAGGAATC -3'

Posted On

2013-06-11