Mutagenetix > Incidental Mutation

Incidental Mutation 'R0763:Il12rb1'

72512

Institutional Source

Beutler Lab

Gene Symbol

Il12rb1

Ensembl Gene

ENSMUSG00000000791

Gene Name

interleukin 12 receptor, beta 1

Synonyms

IL-12R[b], CD212

MMRRC Submission

038943-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R0763 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71261093-71274068 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 71265934 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148279 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000808] [ENSMUST00000212146] [ENSMUST00000212657]

AlphaFold

Q60837

Predicted Effect

probably benign
Transcript: ENSMUST00000000808

SMART Domains

Protein: ENSMUSP00000000808
Gene: ENSMUSG00000000791

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
FN3	467	550	9.4e-7	SMART
transmembrane domain	567	589	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211936

Predicted Effect

probably benign
Transcript: ENSMUST00000212146

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212251

Predicted Effect

probably benign
Transcript: ENSMUST00000212657

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212826

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 93.8%

Validation Efficiency

96% (52/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type I transmembrane protein that belongs to the hemopoietin receptor superfamily. This protein binds to interleukine 12 (IL12) with a low affinity, and is thought to be a part of IL12 receptor complex. This protein forms a disulfide-linked oligomer, which is required for its IL12 binding activity. The coexpression of this and IL12RB2 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. Mutations in this gene impair the development of interleukin-17-producing T lymphocytes and result in increased susceptibility to mycobacterial and Salmonella infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased serum IFN-gamma levels in response to recombinant IL-12 or LPS treatment, and failure of ConA-activated splenocytes to proliferate or secrete IFN-gamma in response to IL-12. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	A	C	6: 88,815,261 (GRCm39)	F290V	probably damaging	Het
Adam26b	G	A	8: 43,973,601 (GRCm39)	S467L	probably damaging	Het
Adgrv1	T	A	13: 81,647,244 (GRCm39)	I3099F	probably damaging	Het
Akap6	A	G	12: 53,188,997 (GRCm39)	D2137G	possibly damaging	Het
Arhgdig	T	C	17: 26,419,275 (GRCm39)	Y48C	probably damaging	Het
Astn1	A	G	1: 158,337,460 (GRCm39)	I389V	possibly damaging	Het
Atp8a1	T	C	5: 67,817,226 (GRCm39)	D920G	probably benign	Het
BC016579	T	A	16: 45,449,818 (GRCm39)	N200I	probably damaging	Het
Casc3	T	C	11: 98,722,144 (GRCm39)	Y661H	probably damaging	Het
Cep120	A	C	18: 53,854,809 (GRCm39)	V442G	probably benign	Het
Cfap65	A	G	1: 74,943,841 (GRCm39)	Y1557H	probably damaging	Het
Chd2	G	T	7: 73,097,022 (GRCm39)	Q1485K	possibly damaging	Het
Cntrl	T	C	2: 35,061,078 (GRCm39)	F1967L	probably benign	Het
Csmd1	G	A	8: 17,077,300 (GRCm39)	T119M	possibly damaging	Het
Dnah9	T	C	11: 66,046,356 (GRCm39)	H64R	probably benign	Het
Ep400	T	C	5: 110,813,703 (GRCm39)	R2899G	probably damaging	Het
Foxl2	A	C	9: 98,838,086 (GRCm39)	T125P	probably damaging	Het
Foxred1	A	T	9: 35,118,769 (GRCm39)		probably null	Het
H2-Eb1	T	A	17: 34,533,133 (GRCm39)		probably benign	Het
Heatr3	T	C	8: 88,884,869 (GRCm39)	S378P	probably damaging	Het
Hectd4	T	C	5: 121,445,096 (GRCm39)		probably benign	Het
Hps3	T	G	3: 20,057,443 (GRCm39)	R780S	probably damaging	Het
Ifi44	G	A	3: 151,455,135 (GRCm39)	A30V	probably damaging	Het
Invs	G	A	4: 48,392,628 (GRCm39)	G281R	possibly damaging	Het
Itgax	C	A	7: 127,747,112 (GRCm39)		probably benign	Het
Jade1	G	T	3: 41,568,218 (GRCm39)	C762F	possibly damaging	Het
Lama1	C	T	17: 68,079,813 (GRCm39)	P1229S	probably damaging	Het
Mmp15	C	A	8: 96,094,856 (GRCm39)	D243E	probably benign	Het
Mug2	A	G	6: 122,052,253 (GRCm39)	T1004A	probably benign	Het
Myh14	A	T	7: 44,314,791 (GRCm39)	V44E	probably damaging	Het
N4bp2l1	C	A	5: 150,517,869 (GRCm39)	R11S	possibly damaging	Het
Notch4	T	A	17: 34,784,306 (GRCm39)	C36*	probably null	Het
Nwd1	A	G	8: 73,397,672 (GRCm39)	D637G	probably damaging	Het
Ogfod1	T	C	8: 94,782,264 (GRCm39)	I238T	probably benign	Het
Pakap	G	A	4: 57,688,441 (GRCm39)	E95K	probably damaging	Het
Papln	A	G	12: 83,838,639 (GRCm39)	D1256G	possibly damaging	Het
Ppp1r26	T	C	2: 28,340,379 (GRCm39)	L3P	probably damaging	Het
Rbm10	C	T	X: 20,503,903 (GRCm39)		probably benign	Het
Slc17a5	A	T	9: 78,460,372 (GRCm39)		probably benign	Het
Slc25a17	A	G	15: 81,207,907 (GRCm39)		probably benign	Het
Socs4	T	C	14: 47,528,112 (GRCm39)	F349S	probably damaging	Het
Spata31f1a	A	G	4: 42,851,238 (GRCm39)	V306A	probably damaging	Het
Tchhl1	A	C	3: 93,378,878 (GRCm39)	E527D	probably benign	Het
Tm7sf3	A	G	6: 146,507,787 (GRCm39)	L425S	possibly damaging	Het
Tmem266	G	T	9: 55,322,239 (GRCm39)	V112L	probably damaging	Het
Tmem30c	T	A	16: 57,090,539 (GRCm39)	I223F	possibly damaging	Het
Tomm70a	G	A	16: 56,942,535 (GRCm39)	G104D	probably benign	Het
Ttc17	G	T	2: 94,163,148 (GRCm39)	A834E	probably benign	Het
Ttn	C	T	2: 76,561,534 (GRCm39)	V20664M	probably damaging	Het
Zbed5	T	C	5: 129,931,020 (GRCm39)	V323A	probably benign	Het

Other mutations in Il12rb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02056:Il12rb1	APN	8	71,263,831 (GRCm39)	nonsense	probably null
IGL03065:Il12rb1	APN	8	71,273,202 (GRCm39)	missense	possibly damaging	0.51
P0026:Il12rb1	UTSW	8	71,265,185 (GRCm39)	missense	probably damaging	0.99
R0140:Il12rb1	UTSW	8	71,272,415 (GRCm39)	splice site	probably benign
R1554:Il12rb1	UTSW	8	71,266,016 (GRCm39)	critical splice donor site	probably null
R1577:Il12rb1	UTSW	8	71,263,250 (GRCm39)	missense	probably damaging	0.99
R1688:Il12rb1	UTSW	8	71,272,046 (GRCm39)	missense	probably damaging	1.00
R1918:Il12rb1	UTSW	8	71,266,324 (GRCm39)	missense	probably benign	0.04
R2848:Il12rb1	UTSW	8	71,268,446 (GRCm39)	nonsense	probably null
R3735:Il12rb1	UTSW	8	71,269,862 (GRCm39)	missense	probably damaging	0.99
R4791:Il12rb1	UTSW	8	71,266,012 (GRCm39)	missense	possibly damaging	0.83
R4857:Il12rb1	UTSW	8	71,263,232 (GRCm39)	missense	possibly damaging	0.94
R5189:Il12rb1	UTSW	8	71,263,702 (GRCm39)	missense	possibly damaging	0.66
R5493:Il12rb1	UTSW	8	71,262,483 (GRCm39)	missense	probably benign	0.00
R5590:Il12rb1	UTSW	8	71,266,411 (GRCm39)	missense	possibly damaging	0.83
R6484:Il12rb1	UTSW	8	71,262,348 (GRCm39)	splice site	probably null
R7213:Il12rb1	UTSW	8	71,269,097 (GRCm39)	missense	probably benign	0.00
R7301:Il12rb1	UTSW	8	71,266,343 (GRCm39)	missense	possibly damaging	0.73
R7388:Il12rb1	UTSW	8	71,263,271 (GRCm39)	missense	probably damaging	1.00
R7992:Il12rb1	UTSW	8	71,265,233 (GRCm39)	missense	possibly damaging	0.93
R8409:Il12rb1	UTSW	8	71,269,187 (GRCm39)	missense	possibly damaging	0.85
R9094:Il12rb1	UTSW	8	71,273,291 (GRCm39)	missense	possibly damaging	0.91
R9697:Il12rb1	UTSW	8	71,263,874 (GRCm39)	nonsense	probably null
R9698:Il12rb1	UTSW	8	71,263,848 (GRCm39)	missense	possibly damaging	0.90
R9774:Il12rb1	UTSW	8	71,272,040 (GRCm39)	missense	possibly damaging	0.85
X0061:Il12rb1	UTSW	8	71,267,279 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGAGTCTCATGGTTTTCCCCAGTTC -3'
(R):5'- TGTAGATCCAGGTCACCCAACCAG -3'

Sequencing Primer
(F):5'- TGAGTCAGAGGAGCCTGACC -3'
(R):5'- GACCTTGGCTGTTGTACATATCAC -3'

Posted On

2013-09-30