Mutagenetix > Incidental Mutation

Incidental Mutation 'R9698:Il12rb1'

729439

Institutional Source

Beutler Lab

Gene Symbol

Il12rb1

Ensembl Gene

ENSMUSG00000000791

Gene Name

interleukin 12 receptor, beta 1

Synonyms

IL-12R[b], CD212

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9698 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71261093-71274068 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 71263848 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 136 (Q136H)

Ref Sequence

ENSEMBL: ENSMUSP00000000808 (fasta)

Gene Model

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

AlphaFold

Q60837

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000808
AA Change: Q136H

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000000808
Gene: ENSMUSG00000000791
AA Change: Q136H

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: ENSMUST00000212146

Predicted Effect

probably damaging
Transcript: ENSMUST00000212657
AA Change: Q136H

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,571,757 (GRCm39)	M1124V	probably benign	Het
Adamts9	A	G	6: 92,784,121 (GRCm39)	C1578R	probably damaging	Het
Adprs	T	C	4: 126,210,514 (GRCm39)	D322G	probably damaging	Het
Anks3	T	C	16: 4,766,113 (GRCm39)	E327G	probably benign	Het
Aspm	T	G	1: 139,389,646 (GRCm39)	N689K	probably benign	Het
Bsn	T	A	9: 107,993,170 (GRCm39)	I861F	probably damaging	Het
Camk2d	C	T	3: 126,633,833 (GRCm39)	H452Y	possibly damaging	Het
Cerk	T	C	15: 86,026,995 (GRCm39)	K477E	probably benign	Het
Cntn6	T	A	6: 104,810,044 (GRCm39)	Y575*	probably null	Het
Copg2	T	C	6: 30,838,373 (GRCm39)	E141G	probably damaging	Het
D430041D05Rik	A	G	2: 103,985,396 (GRCm39)	S1224P	probably damaging	Het
Dhrs3	T	C	4: 144,646,508 (GRCm39)	I186T	possibly damaging	Het
Erich2	A	G	2: 70,371,055 (GRCm39)	D431G	unknown	Het
Fmn2	T	A	1: 174,364,739 (GRCm39)	C559S	unknown	Het
Gpr180	G	A	14: 118,391,302 (GRCm39)	G235R	probably damaging	Het
Hoxa13	T	C	6: 52,236,024 (GRCm39)	T174A	probably benign	Het
Hrh3	A	G	2: 179,743,206 (GRCm39)	S141P	possibly damaging	Het
Hrnr	T	C	3: 93,233,094 (GRCm39)	S1111P	unknown	Het
Kcna3	T	C	3: 106,944,405 (GRCm39)	S223P	probably benign	Het
Map10	T	A	8: 126,398,723 (GRCm39)	N705K	probably benign	Het
Marf1	C	A	16: 13,967,077 (GRCm39)	V345L	probably benign	Het
Mcub	C	T	3: 129,710,668 (GRCm39)	D255N	probably damaging	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Mroh3	T	C	1: 136,114,452 (GRCm39)	T625A	probably damaging	Het
Myo18a	A	G	11: 77,720,681 (GRCm39)	Y1152C	probably damaging	Het
Ncdn	T	C	4: 126,643,688 (GRCm39)	Y378C	probably damaging	Het
Or1e30	T	C	11: 73,678,442 (GRCm39)	L226P	probably damaging	Het
Or2m13	A	T	16: 19,226,342 (GRCm39)	C141*	probably null	Het
Or55b4	G	A	7: 102,133,377 (GRCm39)	Q317*	probably null	Het
Pcm1	T	C	8: 41,723,541 (GRCm39)	L342P	possibly damaging	Het
Pdlim1	T	A	19: 40,218,959 (GRCm39)	D224V	probably benign	Het
Plxnb1	A	G	9: 108,925,251 (GRCm39)		probably benign	Het
Pot1a	T	C	6: 25,744,615 (GRCm39)	I630V	probably damaging	Het
Ppil4	A	G	10: 7,683,033 (GRCm39)		probably null	Het
Ptpru	A	T	4: 131,547,531 (GRCm39)	I174K	probably benign	Het
Rab11fip4	T	A	11: 79,583,592 (GRCm39)	L612Q	probably damaging	Het
Rassf4	A	G	6: 116,618,662 (GRCm39)	L207P	probably damaging	Het
Reg3g	A	C	6: 78,444,805 (GRCm39)	S58A	probably benign	Het
Ric8b	T	C	10: 84,783,361 (GRCm39)	L73P	probably damaging	Het
Rmdn2	A	G	17: 79,957,729 (GRCm39)		probably null	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Slc46a2	A	G	4: 59,912,582 (GRCm39)	S397P	probably damaging	Het
Smpd3	A	T	8: 106,992,296 (GRCm39)	S86T	possibly damaging	Het
Sumf1	T	C	6: 108,131,923 (GRCm39)	H198R	probably benign	Het
Tagap1	C	G	17: 7,228,477 (GRCm39)	D18H	probably damaging	Het
Tcf23	C	T	5: 31,126,225 (GRCm39)	R35C	probably damaging	Het
Tdpoz8	T	A	3: 92,981,727 (GRCm39)	D174E	possibly damaging	Het
Tenm3	G	A	8: 48,689,246 (GRCm39)	L2114F	probably damaging	Het
Ttn	A	T	2: 76,773,718 (GRCm39)	I2301K	unknown	Het
Ubr4	A	G	4: 139,167,975 (GRCm39)	E1496G		Het
Usp48	T	C	4: 137,361,202 (GRCm39)	V756A	possibly damaging	Het
Zfp626	A	G	7: 27,518,440 (GRCm39)	I474V	possibly damaging	Het
Zfpm1	T	A	8: 123,063,868 (GRCm39)	S976T	unknown	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
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
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'- TGGGATTAGACTGCGTCATG -3'
(R):5'- ACGCGCTGAGTCATGAAAAC -3'

Sequencing Primer
(F):5'- AGACTGCGTCATGACTTTATTTTC -3'
(R):5'- ACAGCTCCCCAGAGGATGAG -3'

Posted On

2022-10-06