Mutagenetix > Incidental Mutation

Incidental Mutation 'R2848:Il12rb1'

251852

Institutional Source

Beutler Lab

Gene Symbol

Il12rb1

Ensembl Gene

ENSMUSG00000000791

Gene Name

interleukin 12 receptor, beta 1

Synonyms

IL-12R[b], CD212

MMRRC Submission

040441-MU

Accession Numbers

Essential gene?

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

Stock #

R2848 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71261093-71274068 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 71268446 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 396 (W396*)

Ref Sequence

ENSEMBL: ENSMUSP00000148279 (fasta)

Gene Model

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

AlphaFold

Q60837

Predicted Effect

probably null
Transcript: ENSMUST00000000808
AA Change: W396*

SMART Domains

Protein: ENSMUSP00000000808
Gene: ENSMUSG00000000791
AA Change: W396*

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 null
Transcript: ENSMUST00000212657
AA Change: W396*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212826

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930451I11Rik	A	T	7: 126,429,894 (GRCm39)	F101Y	possibly damaging	Het
Abca17	G	C	17: 24,508,481 (GRCm39)	T1018R	probably damaging	Het
Adamts14	T	A	10: 61,054,214 (GRCm39)	Q606L	probably damaging	Het
Adgrf5	C	A	17: 43,733,531 (GRCm39)	N118K	possibly damaging	Het
Baz2b	A	T	2: 59,755,010 (GRCm39)	Y1073N	possibly damaging	Het
Celf2	T	C	2: 6,608,936 (GRCm39)	R282G	probably damaging	Het
Cntnap5c	A	T	17: 58,183,387 (GRCm39)	D31V	probably damaging	Het
Cobl	A	G	11: 12,328,342 (GRCm39)	L81P	probably damaging	Het
Cpsf1	A	T	15: 76,487,051 (GRCm39)	L209Q	probably damaging	Het
Crocc	G	A	4: 140,746,067 (GRCm39)	A1684V	probably damaging	Het
Cyp4f37	T	A	17: 32,848,099 (GRCm39)	C206S	probably damaging	Het
Dnah3	A	G	7: 119,567,161 (GRCm39)	V2355A	probably benign	Het
Dnah6	T	C	6: 73,106,314 (GRCm39)	K1756E	probably benign	Het
Fis1	T	C	5: 136,991,971 (GRCm39)	I55T	possibly damaging	Het
Gm2381	G	A	7: 42,469,831 (GRCm39)	P98S	probably damaging	Het
Gpr37	C	T	6: 25,666,945 (GRCm39)		probably benign	Het
Grin2a	A	G	16: 9,579,829 (GRCm39)	F145L	possibly damaging	Het
Htr4	T	C	18: 62,561,197 (GRCm39)	S153P	probably damaging	Het
Igkv9-120	T	A	6: 68,027,128 (GRCm39)		probably benign	Het
Itga8	A	T	2: 12,165,215 (GRCm39)	V798D	probably damaging	Het
Lfng	T	A	5: 140,597,622 (GRCm39)	D149E	probably damaging	Het
Magi2	A	AG	5: 20,807,459 (GRCm39)		probably null	Het
Mgam	C	A	6: 40,629,649 (GRCm39)	A86E	possibly damaging	Het
Myh4	A	G	11: 67,139,459 (GRCm39)	N592S	probably benign	Het
Naa16	A	G	14: 79,573,323 (GRCm39)	C816R	probably damaging	Het
Nek8	A	G	11: 78,058,967 (GRCm39)	S513P	probably damaging	Het
Ociad1	A	G	5: 73,451,694 (GRCm39)		probably null	Het
Or1j4	A	G	2: 36,740,811 (GRCm39)	Y251C	probably damaging	Het
Or2t35	C	T	14: 14,407,398 (GRCm38)	P57S	probably damaging	Het
Or4g7	T	C	2: 111,309,699 (GRCm39)	M190T	probably benign	Het
Osbpl8	T	A	10: 111,105,297 (GRCm39)	S251T	probably benign	Het
Pcdh7	G	A	5: 57,877,618 (GRCm39)	G391E	probably damaging	Het
Pcdhga10	T	A	18: 37,881,253 (GRCm39)	V338E	possibly damaging	Het
Pde4b	C	T	4: 102,458,742 (GRCm39)	A466V	probably damaging	Het
Peg10	C	T	6: 4,756,912 (GRCm39)		probably benign	Het
Poteg	A	T	8: 27,971,704 (GRCm39)	N406I	probably benign	Het
Ppargc1a	A	G	5: 51,631,151 (GRCm39)	F493L	probably benign	Het
Ptpra	C	A	2: 130,386,919 (GRCm39)	H603Q	probably benign	Het
Rnf10	T	C	5: 115,387,171 (GRCm39)	D439G	probably benign	Het
Shfl	A	T	9: 20,784,868 (GRCm39)	H225L	probably damaging	Het
Syt3	G	A	7: 44,042,866 (GRCm39)	V383I	probably benign	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Try5	C	T	6: 41,290,410 (GRCm39)	V25I	probably benign	Het
Ttn	G	T	2: 76,749,551 (GRCm39)	Q3833K	probably benign	Het
Usp53	G	A	3: 122,728,140 (GRCm39)	P814L	probably benign	Het
Utp25	A	T	1: 192,810,759 (GRCm39)	N81K	probably benign	Het
Vmn1r181	G	T	7: 23,683,943 (GRCm39)	S136I	possibly damaging	Het
Vmn2r114	A	T	17: 23,509,948 (GRCm39)	M844K	probably benign	Het
Vwa8	G	T	14: 79,184,582 (GRCm39)	R360L	probably benign	Het
Xlr4b	A	T	X: 72,258,938 (GRCm39)	Q25L	probably null	Het
Zfp532	T	A	18: 65,789,697 (GRCm39)	H1045Q	possibly damaging	Het
Zfp985	G	A	4: 147,667,468 (GRCm39)	W112*	probably null	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
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
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'- GTGATTATCACTGACATGCTGGTG -3'
(R):5'- TTATCTGCCATCGTGTGACCTG -3'

Sequencing Primer
(F):5'- ACATGCTGGTGAGCCCTTGTAC -3'
(R):5'- TGCAGGCCACAGCATTC -3'

Posted On

2014-12-04