Mutagenetix > Incidental Mutation

Incidental Mutation 'R0140:Il12rb1'

60941

Institutional Source

Beutler Lab

Gene Symbol

Il12rb1

Ensembl Gene

ENSMUSG00000000791

Gene Name

interleukin 12 receptor, beta 1

Synonyms

IL-12R[b], CD212

MMRRC Submission

038425-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R0140 (G1)

Quality Score

109

Status

Validated

Chromosome

Chromosomal Location

71261093-71274068 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 71272415 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148279 (fasta)

Gene Model

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

probably benign
Transcript: ENSMUST00000212657

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

98% (79/81)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,057,789 (GRCm39)		probably benign	Het
9330161L09Rik	T	C	12: 103,373,587 (GRCm39)		probably benign	Het
Abca2	T	G	2: 25,328,097 (GRCm39)		probably null	Het
Adgrf3	T	C	5: 30,401,379 (GRCm39)	K13R	probably benign	Het
Arhgap15	C	A	2: 44,212,779 (GRCm39)	F416L	probably damaging	Het
Arhgef26	C	G	3: 62,355,666 (GRCm39)	T746R	probably benign	Het
Aspm	C	T	1: 139,408,379 (GRCm39)	T2422I	probably benign	Het
Atp4a	C	G	7: 30,419,526 (GRCm39)	R659G	probably benign	Het
AY358078	T	A	14: 52,063,399 (GRCm39)	D348E	probably benign	Het
Blnk	A	T	19: 40,928,668 (GRCm39)	S285T	probably damaging	Het
Calr3	C	T	8: 73,188,732 (GRCm39)		probably benign	Het
Camsap2	A	T	1: 136,208,120 (GRCm39)	V1124D	probably benign	Het
Ccdc40	G	A	11: 119,155,125 (GRCm39)	G1122S	probably benign	Het
Ccdc69	C	A	11: 54,941,325 (GRCm39)	C196F	possibly damaging	Het
Cdhr3	T	G	12: 33,130,412 (GRCm39)	N141T	probably benign	Het
Cdk4	T	C	10: 126,900,214 (GRCm39)	V37A	probably damaging	Het
Celsr2	C	T	3: 108,305,249 (GRCm39)	R2110K	probably benign	Het
Clcn7	A	G	17: 25,372,728 (GRCm39)	Y437C	probably damaging	Het
Col6a6	A	G	9: 105,579,474 (GRCm39)	F1917S	probably damaging	Het
Cps1	T	G	1: 67,219,275 (GRCm39)	S872A	probably benign	Het
Crebbp	G	T	16: 3,935,363 (GRCm39)	T842N	probably damaging	Het
Dennd2d	G	A	3: 106,399,799 (GRCm39)	V234I	probably benign	Het
Fam227b	T	C	2: 125,966,523 (GRCm39)	M130V	possibly damaging	Het
Fbxw24	G	T	9: 109,434,482 (GRCm39)	L373I	possibly damaging	Het
Fubp3	T	C	2: 31,498,196 (GRCm39)	Y359H	probably damaging	Het
Gm19684	T	C	17: 36,438,319 (GRCm39)		probably benign	Het
Hrnr	C	T	3: 93,238,800 (GRCm39)	Q3013*	probably null	Het
Lepr	A	T	4: 101,625,264 (GRCm39)	D473V	probably damaging	Het
Myof	A	T	19: 37,940,004 (GRCm39)	Y820*	probably null	Het
Nfil3	G	A	13: 53,121,681 (GRCm39)	Q408*	probably null	Het
Nolc1	G	A	19: 46,069,817 (GRCm39)		probably benign	Het
Npbwr1	A	C	1: 5,986,840 (GRCm39)	Y225D	probably damaging	Het
Nrip3	T	C	7: 109,361,022 (GRCm39)		probably benign	Het
Ntrk1	A	C	3: 87,685,875 (GRCm39)	L749R	probably damaging	Het
Or10ag53	A	G	2: 87,082,969 (GRCm39)	I229M	probably damaging	Het
Or2b11	A	G	11: 59,461,804 (GRCm39)	L254P	probably damaging	Het
Or4c126	T	A	2: 89,824,463 (GRCm39)	V242D	probably damaging	Het
Or52a24	A	G	7: 103,381,349 (GRCm39)	D72G	probably damaging	Het
Or6c211	G	T	10: 129,505,557 (GRCm39)	T277N	probably damaging	Het
Paox	A	T	7: 139,713,971 (GRCm39)	T244S	probably damaging	Het
Pcdhb9	T	A	18: 37,536,014 (GRCm39)	D669E	possibly damaging	Het
Pggt1b	A	G	18: 46,391,150 (GRCm39)		probably null	Het
Phkg1	T	A	5: 129,893,449 (GRCm39)	I334F	probably benign	Het
Phtf1	A	T	3: 103,894,876 (GRCm39)	R208W	probably null	Het
Pnliprp2	A	T	19: 58,754,795 (GRCm39)	I280F	probably benign	Het
Pnma8a	A	G	7: 16,694,147 (GRCm39)	M1V	probably null	Het
Prcp	A	G	7: 92,577,819 (GRCm39)	T328A	probably damaging	Het
Pxdn	A	G	12: 30,032,753 (GRCm39)	E179G	probably benign	Het
Racgap1	A	T	15: 99,521,532 (GRCm39)	N541K	probably benign	Het
Rnf103	T	A	6: 71,486,315 (GRCm39)	F315L	possibly damaging	Het
Septin2	A	G	1: 93,429,361 (GRCm39)	R237G	probably damaging	Het
Setd6	T	A	8: 96,442,737 (GRCm39)	L58Q	probably damaging	Het
Sipa1l1	G	A	12: 82,442,974 (GRCm39)	V755I	probably damaging	Het
Slc16a12	G	T	19: 34,650,104 (GRCm39)		probably benign	Het
Slk	G	A	19: 47,610,774 (GRCm39)	D815N	probably damaging	Het
Stx1a	T	C	5: 135,074,439 (GRCm39)		probably benign	Het
Tbc1d15	T	A	10: 115,056,124 (GRCm39)	I283F	probably damaging	Het
Tenm4	T	C	7: 96,545,259 (GRCm39)	I2425T	possibly damaging	Het
Tle1	G	A	4: 72,038,422 (GRCm39)	H702Y	probably damaging	Het
Tmc6	A	G	11: 117,657,077 (GRCm39)		probably benign	Het
Tmem268	G	A	4: 63,496,096 (GRCm39)	R179H	possibly damaging	Het
Tmem9	A	G	1: 135,961,900 (GRCm39)	K165R	probably damaging	Het
Trpm6	A	G	19: 18,796,558 (GRCm39)		probably null	Het
Tufm	C	T	7: 126,089,003 (GRCm39)	P88S	probably damaging	Het
Ubqln1	A	G	13: 58,341,103 (GRCm39)	I216T	probably damaging	Het
Urad	T	G	5: 147,259,141 (GRCm39)	M1L	probably benign	Het
Utp6	A	G	11: 79,847,551 (GRCm39)		probably benign	Het
Vav2	C	T	2: 27,163,688 (GRCm39)		probably benign	Het
Vmn2r55	G	T	7: 12,402,104 (GRCm39)	Q395K	possibly damaging	Het
Wwox	T	G	8: 115,433,027 (GRCm39)	V231G	probably damaging	Het
Zfp646	T	A	7: 127,482,678 (GRCm39)	N1618K	probably benign	Het
Zzef1	G	A	11: 72,790,377 (GRCm39)	M2110I	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
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
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'- CCTGGAACCGAATTGCGTTGTG -3'
(R):5'- TCTGTGGAGACCCTCTTCCAAGTC -3'

Sequencing Primer
(F):5'- ATCTTGAGTGTGCAGGACTCTC -3'
(R):5'- GATCCAGCCATGCCTGAAG -3'

Posted On

2013-07-24