Mutagenetix > Incidental Mutation

Incidental Mutation 'R7934:Rxrg'

648591

Institutional Source

Beutler Lab

Gene Symbol

Rxrg

Ensembl Gene

ENSMUSG00000015843

Gene Name

retinoid X receptor gamma

Synonyms

Nr2b3

MMRRC Submission

045980-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.826) question?

Stock #

R7934 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

167425953-167467192 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 167454927 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 170 (D170G)

Ref Sequence

ENSEMBL: ENSMUSP00000015987 (fasta)

Gene Model

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

AlphaFold

P28705

Predicted Effect

probably damaging
Transcript: ENSMUST00000015987
AA Change: D170G

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000015987
Gene: ENSMUSG00000015843
AA Change: D170G

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: D47G

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000107011
Gene: ENSMUSG00000015843
AA Change: D47G

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: D170G

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000107015
Gene: ENSMUSG00000015843
AA Change: D170G

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: D170G

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000107017
Gene: ENSMUSG00000015843
AA Change: D170G

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	G	A	5: 139,349,770 (GRCm39)	A93V	probably benign	Het
Abca8b	G	A	11: 109,865,865 (GRCm39)	T296I	possibly damaging	Het
Adamtsl1	A	C	4: 86,161,962 (GRCm39)	Y365S	probably damaging	Het
Ambp	T	A	4: 63,067,677 (GRCm39)	I178F	probably damaging	Het
Ankle1	T	C	8: 71,858,899 (GRCm39)	V44A	possibly damaging	Het
Arhgef2	A	G	3: 88,537,221 (GRCm39)	E37G	probably damaging	Het
Atp2a2	A	G	5: 122,599,639 (GRCm39)	I584T	probably benign	Het
Ccdc171	T	A	4: 83,614,492 (GRCm39)	L1031*	probably null	Het
Cdh17	T	A	4: 11,799,754 (GRCm39)		probably null	Het
Cdip1	T	C	16: 4,586,422 (GRCm39)	T203A	probably benign	Het
Ceacam1	C	T	7: 25,163,220 (GRCm39)	V338I	possibly damaging	Het
Cep78	G	A	19: 15,933,754 (GRCm39)	T608I	probably damaging	Het
Ces3a	T	A	8: 105,775,345 (GRCm39)		probably null	Het
Cfap210	G	A	2: 69,612,450 (GRCm39)	Q97*	probably null	Het
Chd7	A	G	4: 8,854,121 (GRCm39)	T1898A	probably benign	Het
Cpne6	T	C	14: 55,750,066 (GRCm39)	C66R	possibly damaging	Het
Creb1	G	A	1: 64,609,372 (GRCm39)	A108T	probably benign	Het
Ctnna3	A	T	10: 64,421,747 (GRCm39)	I514F	probably damaging	Het
Cyp2c55	T	C	19: 39,030,535 (GRCm39)	F456L	probably damaging	Het
Cyp2d40	A	G	15: 82,648,212 (GRCm39)	S34P	probably damaging	Het
Cyp2g1	A	T	7: 26,518,618 (GRCm39)	T378S	probably damaging	Het
Eif2b3	C	A	4: 116,923,675 (GRCm39)	Q297K	probably benign	Het
Fbll1	T	C	11: 35,689,048 (GRCm39)	N72D	unknown	Het
Fev	C	G	1: 74,921,632 (GRCm39)	R106P	probably damaging	Het
Gal3st1	A	G	11: 3,948,405 (GRCm39)	Y204C	probably damaging	Het
Gm15130	A	T	2: 110,964,582 (GRCm39)	L180Q		Het
Greb1l	A	T	18: 10,474,371 (GRCm39)	K229*	probably null	Het
Haghl	G	T	17: 26,002,519 (GRCm39)	T214K	probably damaging	Het
Hivep1	A	G	13: 42,308,174 (GRCm39)	H138R	probably benign	Het
Ighv1-53	G	T	12: 115,122,236 (GRCm39)	Y46*	probably null	Het
Igsf21	T	C	4: 139,761,755 (GRCm39)	T308A	possibly damaging	Het
Kcnb1	A	G	2: 166,946,536 (GRCm39)	S771P	probably benign	Het
Kndc1	T	A	7: 139,501,402 (GRCm39)	M897K	probably benign	Het
Macf1	T	C	4: 123,367,727 (GRCm39)	M2345V	possibly damaging	Het
Mettl2	T	C	11: 105,019,773 (GRCm39)	S137P	probably benign	Het
Mrpl15	A	G	1: 4,844,725 (GRCm39)	S189P	probably benign	Het
Ndrg2	T	C	14: 52,143,661 (GRCm39)	Q351R	probably benign	Het
Nox4	A	G	7: 86,945,032 (GRCm39)	N65S	probably damaging	Het
Or1n1	A	G	2: 36,750,228 (GRCm39)	I44T	possibly damaging	Het
Or1p1b	C	T	11: 74,131,326 (GRCm39)	S312F	probably benign	Het
Osbpl11	T	A	16: 33,056,752 (GRCm39)	W729R	probably damaging	Het
Oxct2b	C	A	4: 123,010,447 (GRCm39)	C122*	probably null	Het
Pdcl3	A	T	1: 39,026,782 (GRCm39)		probably benign	Het
Plcg1	A	G	2: 160,616,498 (GRCm39)	H1294R	possibly damaging	Het
Pnp2	C	A	14: 51,201,903 (GRCm39)	S296R	probably benign	Het
Ppp1r12c	G	A	7: 4,488,416 (GRCm39)	Q337*	probably null	Het
Prr23a4	A	G	9: 98,785,880 (GRCm39)	R182G	possibly damaging	Het
Ranbp2	G	A	10: 58,312,297 (GRCm39)	V1006I	probably damaging	Het
Sf3b3	T	C	8: 111,548,162 (GRCm39)	T691A	probably benign	Het
Slc1a4	A	G	11: 20,258,518 (GRCm39)	I307T	probably damaging	Het
Slc4a8	G	A	15: 100,685,173 (GRCm39)	V235I	probably damaging	Het
Srgap3	T	A	6: 112,708,450 (GRCm39)	I750F	probably damaging	Het
Trim30a	A	T	7: 104,061,448 (GRCm39)	L282Q	probably damaging	Het
Tshr	A	G	12: 91,478,702 (GRCm39)	K183R	possibly damaging	Het
Usp38	A	T	8: 81,711,077 (GRCm39)	L986Q	probably damaging	Het
Vmn1r257	T	A	7: 22,391,439 (GRCm39)	T102S	possibly damaging	Het
Vps18	A	G	2: 119,124,122 (GRCm39)	T350A	probably benign	Het
Zan	T	A	5: 137,461,841 (GRCm39)	T1113S	unknown	Het
Zbtb37	A	T	1: 160,857,305 (GRCm39)	S312R	probably damaging	Het
Zeb1	A	G	18: 5,748,703 (GRCm39)	N90S	probably benign	Het
Zfp715	A	T	7: 42,949,308 (GRCm39)	Y217*	probably null	Het
Zfp9	T	C	6: 118,441,847 (GRCm39)	T272A	probably damaging	Het
Zfp943	T	A	17: 22,212,361 (GRCm39)	H482Q	probably damaging	Het
Zfp971	A	T	2: 177,675,173 (GRCm39)	K257N	probably benign	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
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
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'- TCTGTGACCCAGCTCTTTGG -3'
(R):5'- TGCAGCCTGGCTCTTCATTG -3'

Sequencing Primer
(F):5'- GTGACCCAGCTCTTTGGAATTC -3'
(R):5'- GGCTCTTCATTGCGCTTCG -3'

Posted On

2020-09-15