Mutagenetix > Incidental Mutation

Incidental Mutation 'R1688:Il12rb1'

189493

Institutional Source

Beutler Lab

Gene Symbol

Il12rb1

Ensembl Gene

ENSMUSG00000000791

Gene Name

interleukin 12 receptor, beta 1

Synonyms

IL-12R[b], CD212

MMRRC Submission

039721-MU

Accession Numbers

Essential gene?

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

Stock #

R1688 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71261093-71274068 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 71272046 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 587 (G587R)

Ref Sequence

ENSEMBL: ENSMUSP00000000808 (fasta)

Gene Model

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

AlphaFold

Q60837

Predicted Effect

probably damaging
Transcript: ENSMUST00000000808
AA Change: G587R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000000808
Gene: ENSMUSG00000000791
AA Change: G587R

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

probably benign
Transcript: ENSMUST00000212657

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

100% (71/71)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	T	C	13: 61,002,695 (GRCm39)	T20A	probably benign	Het
Acaca	T	G	11: 84,129,722 (GRCm39)	V359G	probably damaging	Het
Adgb	G	A	10: 10,226,061 (GRCm39)	R1359*	probably null	Het
Aggf1	T	C	13: 95,501,275 (GRCm39)	E369G	probably damaging	Het
Alkbh8	T	A	9: 3,382,765 (GRCm39)	D418E	probably damaging	Het
Alox8	T	C	11: 69,080,732 (GRCm39)	D203G	probably benign	Het
Ank	A	G	15: 27,557,320 (GRCm39)	D168G	probably damaging	Het
Ap5m1	A	G	14: 49,318,291 (GRCm39)		probably null	Het
Arhgap45	A	G	10: 79,864,929 (GRCm39)	Y964C	probably damaging	Het
Arhgef2	A	G	3: 88,547,607 (GRCm39)	D571G	probably benign	Het
Bdh2	A	T	3: 135,007,399 (GRCm39)	Y223F	possibly damaging	Het
Bin1	T	C	18: 32,552,988 (GRCm39)		probably benign	Het
Bin1	G	A	18: 32,558,025 (GRCm39)		probably benign	Het
Cacna1g	T	A	11: 94,316,779 (GRCm39)	M1514L	possibly damaging	Het
Cd109	T	A	9: 78,612,373 (GRCm39)	F1253L	probably benign	Het
Cfap57	T	A	4: 118,426,843 (GRCm39)	E1065V	probably null	Het
Chmp2b	T	C	16: 65,347,922 (GRCm39)	N14S	probably benign	Het
Cplane1	T	C	15: 8,258,093 (GRCm39)	V2113A	probably benign	Het
Crybg1	A	T	10: 43,849,794 (GRCm39)	F1660L	probably damaging	Het
Cyp2c37	T	G	19: 39,982,887 (GRCm39)		probably null	Het
Daam1	A	T	12: 71,993,820 (GRCm39)	I408F	unknown	Het
Dsc3	T	A	18: 20,099,284 (GRCm39)	D744V	probably damaging	Het
Eprs1	T	C	1: 185,117,093 (GRCm39)	F379L	probably damaging	Het
Ewsr1	G	T	11: 5,022,870 (GRCm39)	D417E	unknown	Het
Eya4	A	T	10: 22,999,759 (GRCm39)	N424K	probably damaging	Het
Gm9312	A	C	12: 24,301,920 (GRCm39)		noncoding transcript	Het
Havcr2	T	C	11: 46,370,191 (GRCm39)	I206T	probably damaging	Het
Igfbp2	T	C	1: 72,864,125 (GRCm39)		probably null	Het
Ikzf2	T	C	1: 69,581,439 (GRCm39)	K196R	possibly damaging	Het
Immt	A	T	6: 71,833,995 (GRCm39)	H208L	probably damaging	Het
Kcnq2	C	T	2: 180,728,826 (GRCm39)	V540I	probably damaging	Het
Klk1b8	T	A	7: 43,595,229 (GRCm39)		probably benign	Het
Mc2r	T	A	18: 68,541,090 (GRCm39)	I68F	possibly damaging	Het
Neil3	T	C	8: 54,054,069 (GRCm39)	E320G	probably damaging	Het
Nell2	T	C	15: 95,329,494 (GRCm39)	T276A	probably damaging	Het
Nphp3	T	C	9: 103,880,323 (GRCm39)	L115P	probably damaging	Het
Nras	T	C	3: 102,967,689 (GRCm39)	L95P	probably benign	Het
Ogt	G	A	X: 100,699,296 (GRCm39)	V190I	probably damaging	Het
Or11h6	A	T	14: 50,880,705 (GRCm39)	K322N	probably benign	Het
Or5t17	A	G	2: 86,832,730 (GRCm39)	Y139C	probably benign	Het
P2ry6	T	A	7: 100,587,591 (GRCm39)	H256L	probably damaging	Het
Pcbp4	T	C	9: 106,338,533 (GRCm39)	S153P	probably damaging	Het
Pclo	T	C	5: 14,838,507 (GRCm39)		probably null	Het
Per2	A	G	1: 91,351,551 (GRCm39)	L985P	probably damaging	Het
Pgap6	C	T	17: 26,337,882 (GRCm39)	A422V	possibly damaging	Het
Phip	T	C	9: 82,753,710 (GRCm39)	N1678S	probably benign	Het
Pkd1l3	A	G	8: 110,350,450 (GRCm39)	S432G	probably benign	Het
Plin4	T	A	17: 56,416,363 (GRCm39)	D47V	possibly damaging	Het
Ppp2cb	A	G	8: 34,105,480 (GRCm39)	I163M	probably benign	Het
Ptpdc1	T	C	13: 48,739,700 (GRCm39)	E577G	probably benign	Het
Ptprd	G	T	4: 75,900,921 (GRCm39)	P1063T	probably damaging	Het
Ptpru	T	C	4: 131,514,656 (GRCm39)	D866G	probably benign	Het
Rdx	T	C	9: 51,972,211 (GRCm39)		probably benign	Het
Rgsl1	C	T	1: 153,680,422 (GRCm39)	R760H	probably damaging	Het
Rhno1	A	G	6: 128,334,897 (GRCm39)	V142A	probably benign	Het
Sema5a	C	T	15: 32,669,570 (GRCm39)	T698I	probably benign	Het
Serpina3a	A	T	12: 104,084,902 (GRCm39)	D99V	probably benign	Het
Slc22a3	A	T	17: 12,652,694 (GRCm39)	M350K	probably damaging	Het
Spata31d1b	T	A	13: 59,863,274 (GRCm39)	S141T	possibly damaging	Het
Tada2a	T	C	11: 83,975,585 (GRCm39)		probably null	Het
Tspan10	A	G	11: 120,333,608 (GRCm39)	M2V	probably damaging	Het
Ttll11	T	C	2: 35,685,391 (GRCm39)	T566A	probably damaging	Het
Vwa8	A	G	14: 79,438,543 (GRCm39)	Q1872R	possibly damaging	Het
Zfp605	T	A	5: 110,276,907 (GRCm39)	I675N	possibly damaging	Het
Zkscan8	A	T	13: 21,704,324 (GRCm39)	N538K	possibly damaging	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
R0763:Il12rb1	UTSW	8	71,265,934 (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
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'- GGTCAAGTTGCGTCTTCCTCAGTC -3'
(R):5'- AGGAACATCTACCTGCTTGCCCTG -3'

Sequencing Primer
(F):5'- TCTTCCTCAGTCAGGGTAGGAAC -3'
(R):5'- TGAGAGTCCTGCACACTCAAG -3'

Posted On

2014-05-14