Mutagenetix > Incidental Mutation

Incidental Mutation 'R2093:Rxrg'

231890

Institutional Source

Beutler Lab

Gene Symbol

Rxrg

Ensembl Gene

ENSMUSG00000015843

Gene Name

retinoid X receptor gamma

Synonyms

Nr2b3

Accession Numbers

Essential gene?

Probably essential (E-score: 0.826) question?

Stock #

R2093 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

167425953-167467192 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 167454893 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 159 (C159R)

Ref Sequence

ENSEMBL: ENSMUSP00000107017 (fasta)

Gene Model

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

AlphaFold

P28705

Predicted Effect

probably damaging
Transcript: ENSMUST00000015987
AA Change: C159R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000015987
Gene: ENSMUSG00000015843
AA Change: C159R

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 damaging
Transcript: ENSMUST00000111380
AA Change: C36R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107011
Gene: ENSMUSG00000015843
AA Change: C36R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000111384
AA Change: C159R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107015
Gene: ENSMUSG00000015843
AA Change: C159R

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 damaging
Transcript: ENSMUST00000111386
AA Change: C159R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107017
Gene: ENSMUSG00000015843
AA Change: C159R

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

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 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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	A	G	1: 130,671,041 (GRCm39)	D421G	probably benign	Het
Adamts1	T	G	16: 85,599,333 (GRCm39)	Q89P	probably benign	Het
Arhgef10l	T	G	4: 140,297,601 (GRCm39)	N277T	possibly damaging	Het
Atp2c1	G	A	9: 105,295,320 (GRCm39)	R669*	probably null	Het
Brip1	T	C	11: 86,029,971 (GRCm39)	T558A	possibly damaging	Het
Cbr2	G	A	11: 120,621,255 (GRCm39)	T148I	probably benign	Het
Ccdc110	C	A	8: 46,395,114 (GRCm39)	T335K	probably damaging	Het
Cd44	T	G	2: 102,644,629 (GRCm39)	D731A	probably damaging	Het
Cnot1	T	C	8: 96,501,986 (GRCm39)	D44G	probably damaging	Het
Cnrip1	T	C	11: 17,002,237 (GRCm39)	V23A	probably damaging	Het
Cntnap5c	A	T	17: 58,505,995 (GRCm39)	H673L	probably benign	Het
Col3a1	C	T	1: 45,372,150 (GRCm39)	A493V	probably damaging	Het
Crem	A	T	18: 3,299,256 (GRCm39)	V19E	probably damaging	Het
Cyp2g1	A	G	7: 26,518,858 (GRCm39)	D418G	probably benign	Het
Dmrta1	A	T	4: 89,579,742 (GRCm39)	H234L	probably benign	Het
Drc3	C	T	11: 60,261,310 (GRCm39)	R154W	probably damaging	Het
Drgx	C	T	14: 32,369,112 (GRCm39)		probably benign	Het
Eef1d	A	G	15: 75,774,550 (GRCm39)	S370P	probably benign	Het
Fdx2	T	C	9: 20,984,720 (GRCm39)	H28R	probably benign	Het
Fmo5	A	G	3: 97,553,194 (GRCm39)	I381V	probably benign	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
Fras1	T	C	5: 96,929,062 (GRCm39)	L3822P	probably damaging	Het
Gm3604	G	T	13: 62,517,420 (GRCm39)	H313N	possibly damaging	Het
Heatr4	T	C	12: 84,021,855 (GRCm39)	E460G	possibly damaging	Het
Ino80	T	A	2: 119,257,151 (GRCm39)	H834L	possibly damaging	Het
Insr	A	T	8: 3,254,762 (GRCm39)	C331S	probably damaging	Het
Itih4	C	T	14: 30,613,694 (GRCm39)	L304F	probably damaging	Het
Klhdc3	C	T	17: 46,988,879 (GRCm39)	V104I	probably benign	Het
Lrp2	C	T	2: 69,366,365 (GRCm39)	D245N	probably benign	Het
Map1b	T	C	13: 99,566,178 (GRCm39)	E2181G	unknown	Het
Map2	T	C	1: 66,438,599 (GRCm39)	V41A	probably damaging	Het
Mical3	A	T	6: 121,017,347 (GRCm39)	H156Q	probably damaging	Het
Mrgpra2b	C	T	7: 47,113,908 (GRCm39)	V249I	probably benign	Het
Myo5b	T	A	18: 74,892,263 (GRCm39)	L1669Q	probably damaging	Het
Nme8	G	A	13: 19,835,042 (GRCm39)	S548F	probably damaging	Het
Npas1	A	T	7: 16,193,202 (GRCm39)	N408K	probably benign	Het
Or1j11	A	T	2: 36,311,941 (GRCm39)	Y177F	probably benign	Het
Or8k30	A	C	2: 86,339,587 (GRCm39)	Q261H	probably damaging	Het
Pcnx4	T	C	12: 72,626,216 (GRCm39)	Y1141H	probably damaging	Het
Pmaip1	C	A	18: 66,594,052 (GRCm39)	P64Q	probably damaging	Het
Ranbp3	T	A	17: 57,017,145 (GRCm39)	M387K	probably damaging	Het
Rbm4	A	G	19: 4,837,792 (GRCm39)	Y231H	probably damaging	Het
Rpgrip1l	T	C	8: 91,996,760 (GRCm39)	S105G	possibly damaging	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Rtn3	A	T	19: 7,434,215 (GRCm39)	D573E	probably damaging	Het
Sdk2	T	C	11: 113,833,948 (GRCm39)	Y78C	probably damaging	Het
Smu1	A	G	4: 40,738,438 (GRCm39)	V432A	probably benign	Het
Spag1	T	C	15: 36,224,276 (GRCm39)	L609P	probably damaging	Het
Spata21	T	G	4: 140,824,277 (GRCm39)	V180G	probably benign	Het
Spata31e2	G	T	1: 26,721,222 (GRCm39)	Y1319*	probably null	Het
Sptlc3	A	T	2: 139,467,794 (GRCm39)	I451F	possibly damaging	Het
Srl	A	G	16: 4,340,896 (GRCm39)	C8R	unknown	Het
Tmprss13	A	G	9: 45,256,340 (GRCm39)	R485G	probably damaging	Het
Trpv4	C	T	5: 114,773,565 (GRCm39)	A266T	probably damaging	Het
Vmn1r198	A	G	13: 22,538,855 (GRCm39)	T25A	probably benign	Het
Vmn2r77	T	C	7: 86,450,702 (GRCm39)	V196A	probably benign	Het
Vmn2r82	C	T	10: 79,231,813 (GRCm39)	T604I	probably benign	Het
Zfp268	C	A	4: 145,349,139 (GRCm39)	T192N	probably benign	Het
Zfp354a	C	T	11: 50,960,551 (GRCm39)	T254I	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
R0548:Rxrg	UTSW	1	167,458,788 (GRCm39)	splice site	probably benign
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
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'- TGACCCAGCTCTTTGGAATTC -3'
(R):5'- TGCAGCCTGGCTCTTCATTG -3'

Sequencing Primer
(F):5'- CCTTATTTGTTCTTAGGGGCTATGAC -3'
(R):5'- TCCCCTTGAGTAGAGGAGAGC -3'

Posted On

2014-09-18