Mutagenetix > Incidental Mutation

Incidental Mutation 'R2935:Rxrb'

255007

Institutional Source

Beutler Lab

Gene Symbol

Rxrb

Ensembl Gene

ENSMUSG00000039656

Gene Name

retinoid X receptor beta

Synonyms

Rub, Nr2b2, H-2RIIBP, RCoR-1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.863) question?

Stock #

R2935 (G1)

Quality Score

145

Status

Not validated

Chromosome

Chromosomal Location

34250786-34257373 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

CGCGGCGGCGGCGGCGGCGGC to CGCGGCGGCGGCGGCGGC at 34251106 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025186] [ENSMUST00000044858] [ENSMUST00000045467] [ENSMUST00000114303] [ENSMUST00000116612] [ENSMUST00000171872] [ENSMUST00000169397] [ENSMUST00000173354] [ENSMUST00000173554]

AlphaFold

P28704

Predicted Effect

probably benign
Transcript: ENSMUST00000025186

SMART Domains

Protein: ENSMUSP00000025186
Gene: ENSMUSG00000024327

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	39	77	N/A	INTRINSIC
low complexity region	80	123	N/A	INTRINSIC
Pfam:Zip	140	473	2.4e-83	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000044858

SMART Domains

Protein: ENSMUSP00000036585
Gene: ENSMUSG00000039656

Domain	Start	End	E-Value	Type
low complexity region	66	85	N/A	INTRINSIC
low complexity region	94	121	N/A	INTRINSIC
low complexity region	124	147	N/A	INTRINSIC
low complexity region	179	186	N/A	INTRINSIC
ZnF_C4	189	260	3.98e-39	SMART
low complexity region	269	282	N/A	INTRINSIC
low complexity region	305	316	N/A	INTRINSIC
HOLI	328	491	1.91e-50	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000045467

SMART Domains

Protein: ENSMUSP00000038069
Gene: ENSMUSG00000073422

Domain	Start	End	E-Value	Type
Pfam:KR	10	201	1.5e-16	PFAM
Pfam:adh_short	10	213	4.5e-52	PFAM
Pfam:adh_short_C2	16	258	8.6e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114303

SMART Domains

Protein: ENSMUSP00000133546
Gene: ENSMUSG00000073422

Domain	Start	End	E-Value	Type
Pfam:KR	10	202	5.5e-16	PFAM
Pfam:adh_short	22	193	2.7e-30	PFAM
Pfam:adh_short_C2	23	234	1.4e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000116612

SMART Domains

Protein: ENSMUSP00000112311
Gene: ENSMUSG00000039656

Domain	Start	End	E-Value	Type
Pfam:Nuc_recep-AF1	2	76	4.3e-10	PFAM
ZnF_C4	79	150	3.98e-39	SMART
low complexity region	159	172	N/A	INTRINSIC
low complexity region	195	206	N/A	INTRINSIC
HOLI	218	377	1.35e-50	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167145

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168978

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174033

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174130

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173810

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174578

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174645

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174399

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170644

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173894

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170491

Predicted Effect

probably benign
Transcript: ENSMUST00000171872

SMART Domains

Protein: ENSMUSP00000133146
Gene: ENSMUSG00000024327

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	39	77	N/A	INTRINSIC
low complexity region	80	123	N/A	INTRINSIC
Pfam:Zip	140	246	4.7e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174299

SMART Domains

Protein: ENSMUSP00000133775
Gene: ENSMUSG00000039656

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
low complexity region	25	52	N/A	INTRINSIC
low complexity region	55	78	N/A	INTRINSIC
low complexity region	110	117	N/A	INTRINSIC
ZnF_C4	120	191	3.98e-39	SMART
low complexity region	200	213	N/A	INTRINSIC
low complexity region	236	247	N/A	INTRINSIC
HOLI	259	418	1.35e-50	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169397

SMART Domains

Protein: ENSMUSP00000130102
Gene: ENSMUSG00000024327

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	39	77	N/A	INTRINSIC
low complexity region	80	123	N/A	INTRINSIC
Pfam:Zip	140	473	1.9e-81	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173354

SMART Domains

Protein: ENSMUSP00000133661
Gene: ENSMUSG00000039656

Domain	Start	End	E-Value	Type
Pfam:Nuc_recep-AF1	2	76	4.3e-10	PFAM
ZnF_C4	79	150	3.98e-39	SMART
low complexity region	159	172	N/A	INTRINSIC
low complexity region	195	206	N/A	INTRINSIC
HOLI	218	381	1.91e-50	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173554

SMART Domains

Protein: ENSMUSP00000134299
Gene: ENSMUSG00000039656

Domain	Start	End	E-Value	Type
Pfam:Nuc_recep-AF1	2	76	4.9e-11	PFAM
ZnF_C4	79	150	3.98e-39	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174740

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.5%

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 effects of retinoic acid (RA). The encoded protein forms homodimers with the retinoic acid, thyroid hormone, and vitamin D receptors, increasing both DNA binding and transcriptional function on their respective response elements. This gene lies within the major histocompatibility complex (MHC) class II region on chromosome 6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mutant mice homozygous for a null mutation exhibit partial embryonic and perinatal lethality, and surviving adult males are sterile due to defects in spermatogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	G	C	17: 24,508,481 (GRCm39)	T1018R	probably damaging	Het
Adgrl1	T	C	8: 84,661,189 (GRCm39)	I894T	probably damaging	Het
Cd55	A	G	1: 130,380,163 (GRCm39)	S272P	possibly damaging	Het
Chek2	T	C	5: 111,015,886 (GRCm39)	V467A	probably damaging	Het
Cyp11a1	A	G	9: 57,923,673 (GRCm39)	Y126C	probably damaging	Het
Ddx39a	T	A	8: 84,447,587 (GRCm39)	V144D	possibly damaging	Het
Fbxl19	G	A	7: 127,351,432 (GRCm39)	R304H	probably damaging	Het
Ide	A	G	19: 37,302,706 (GRCm39)	F135L	unknown	Het
Khdc3	T	C	9: 73,010,987 (GRCm39)	V255A	possibly damaging	Het
Klk1b22	A	G	7: 43,764,146 (GRCm39)	I25V	probably benign	Het
Magi2	A	AG	5: 20,807,459 (GRCm39)		probably null	Het
Mark2	T	C	19: 7,263,254 (GRCm39)	N204S	probably benign	Het
Or1l4b	A	G	2: 37,037,123 (GRCm39)	K300E	possibly damaging	Het
Or4c123	A	T	2: 89,127,604 (GRCm39)	N3K	possibly damaging	Het
Osbpl8	T	A	10: 111,105,297 (GRCm39)	S251T	probably benign	Het
Piezo2	A	G	18: 63,279,914 (GRCm39)	I219T	probably damaging	Het
Rap1gap	T	C	4: 137,452,042 (GRCm39)	S521P	probably benign	Het
Smchd1	G	A	17: 71,718,900 (GRCm39)	P823L	probably damaging	Het
Sncaip	A	G	18: 52,971,104 (GRCm39)	D8G	probably damaging	Het
Stau1	G	A	2: 166,797,037 (GRCm39)	T120I	probably benign	Het
Stxbp5l	G	T	16: 36,954,551 (GRCm39)	H920N	possibly damaging	Het
Thsd7b	A	G	1: 129,605,824 (GRCm39)	T522A	possibly damaging	Het

Other mutations in Rxrb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00435:Rxrb	APN	17	34,253,049 (GRCm39)	missense	probably damaging	1.00
IGL01337:Rxrb	APN	17	34,255,605 (GRCm39)	missense	probably damaging	1.00
concerned	UTSW	17	34,255,645 (GRCm39)	missense	probably benign	0.03
problematic	UTSW	17	34,253,134 (GRCm39)	missense	probably damaging	1.00
BB006:Rxrb	UTSW	17	34,255,645 (GRCm39)	missense	probably benign	0.03
BB016:Rxrb	UTSW	17	34,255,645 (GRCm39)	missense	probably benign	0.03
I2505:Rxrb	UTSW	17	34,252,523 (GRCm39)	splice site	probably benign
R0571:Rxrb	UTSW	17	34,251,106 (GRCm39)	unclassified	probably benign
R1463:Rxrb	UTSW	17	34,253,134 (GRCm39)	missense	probably damaging	1.00
R2312:Rxrb	UTSW	17	34,251,103 (GRCm39)	unclassified	probably benign
R2395:Rxrb	UTSW	17	34,256,412 (GRCm39)	missense	probably damaging	1.00
R3978:Rxrb	UTSW	17	34,255,300 (GRCm39)	missense	possibly damaging	0.92
R5119:Rxrb	UTSW	17	34,252,562 (GRCm39)	missense	probably benign	0.10
R5523:Rxrb	UTSW	17	34,255,411 (GRCm39)	missense	probably damaging	1.00
R5638:Rxrb	UTSW	17	34,256,381 (GRCm39)	missense	probably damaging	1.00
R5769:Rxrb	UTSW	17	34,251,821 (GRCm39)	utr 5 prime	probably benign
R5894:Rxrb	UTSW	17	34,254,718 (GRCm39)	missense	probably damaging	1.00
R6373:Rxrb	UTSW	17	34,252,533 (GRCm39)	missense	probably benign	0.08
R7798:Rxrb	UTSW	17	34,252,579 (GRCm39)	missense	probably damaging	1.00
R7929:Rxrb	UTSW	17	34,255,645 (GRCm39)	missense	probably benign	0.03
R8087:Rxrb	UTSW	17	34,254,763 (GRCm39)	missense	probably benign	0.00
R8233:Rxrb	UTSW	17	34,255,879 (GRCm39)	missense	possibly damaging	0.48
R8268:Rxrb	UTSW	17	34,254,750 (GRCm39)	missense	probably benign	0.01
R8886:Rxrb	UTSW	17	34,256,428 (GRCm39)	missense	probably damaging	0.99
R9211:Rxrb	UTSW	17	34,255,626 (GRCm39)	missense	probably damaging	1.00
R9671:Rxrb	UTSW	17	34,252,020 (GRCm39)	critical splice donor site	probably null
Z1177:Rxrb	UTSW	17	34,251,101 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CCGTCTGTACAAAGATGGCG -3'
(R):5'- AGGGCGCGTGTTTACAAAC -3'

Sequencing Primer
(F):5'- TGCTGTCATCTCAGTGCCGAG -3'
(R):5'- TGTTTACAAACAAGGGGGCG -3'

Posted On

2014-12-29