Mutagenetix > Incidental Mutation

Incidental Mutation 'R5704:Il12rb2'

451845

Institutional Source

Beutler Lab

Gene Symbol

Il12rb2

Ensembl Gene

ENSMUSG00000018341

Gene Name

interleukin 12 receptor, beta 2

Synonyms

A930027I18Rik, Ifnm, IL-12RB2

MMRRC Submission

043329-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5704 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67268302-67353172 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67269197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 538 (N538S)

Ref Sequence

ENSEMBL: ENSMUSP00000113267 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018485] [ENSMUST00000042990] [ENSMUST00000117441]

AlphaFold

P97378

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018485
AA Change: N872S

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000010605
Gene: ENSMUSG00000018341
AA Change: N872S

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Lep_receptor_Ig	28	120	6.4e-20	PFAM
FN3	137	225	2.41e0	SMART
FN3	240	320	3.4e-4	SMART
Blast:FN3	340	434	2e-40	BLAST
FN3	436	525	3.17e-4	SMART
FN3	534	622	6.45e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000042990

SMART Domains

Protein: ENSMUSP00000039110
Gene: ENSMUSG00000036371

Domain	Start	End	E-Value	Type
Pfam:IHABP4_N	5	152	7.4e-42	PFAM
HABP4_PAI-RBP1	189	313	2.73e-44	SMART
low complexity region	362	384	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117441
AA Change: N538S

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113267
Gene: ENSMUSG00000018341
AA Change: N538S

Domain	Start	End	E-Value	Type
Blast:FN3	6	100	1e-41	BLAST
FN3	102	191	3.17e-4	SMART
FN3	200	288	6.45e-5	SMART

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

98% (85/87)

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 identified as a subunit of the interleukin 12 receptor complex. The coexpression of this and IL12RB1 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. The expression of this gene is up-regulated by interferon gamma in Th1 cells, and plays a role in Th1 cell differentiation. The up-regulation of this gene is found to be associated with a number of infectious diseases, such as Crohn's disease and leprosy, which is thought to contribute to the inflammatory response and host defense. Several transcript variants encoding different isoforms and non-protein coding transcripts have been found for this gene. [provided by RefSeq, Apr 2012]
PHENOTYPE: Mice homozygous for a knock-out allele have defects in IFN-gamma production and cytotoxic T lymphocyte and NK cytotoxicity, develop an autoimmune/lymphoproliferative disorder associated with higher susceptibility to spontaneous tumor formation, but show reduced in vivo growth of B16 melanoma tumors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	G	A	5: 105,116,036 (GRCm39)	A266V	probably damaging	Het
Acad10	A	G	5: 121,769,606 (GRCm39)	S617P	probably benign	Het
Ahi1	A	C	10: 20,950,326 (GRCm39)	M126L	probably benign	Het
Alk	T	C	17: 72,910,115 (GRCm39)	E197G	probably damaging	Het
Alyref2	A	T	1: 171,331,547 (GRCm39)	Y108F	probably damaging	Het
Ankrd26	T	G	6: 118,500,843 (GRCm39)	H876P	probably damaging	Het
Arfgef1	T	C	1: 10,229,808 (GRCm39)	T1298A	probably damaging	Het
Arhgap33	T	A	7: 30,219,045 (GRCm39)		probably benign	Het
Arhgef17	A	G	7: 100,530,548 (GRCm39)	S1413P	probably damaging	Het
Arid1a	A	T	4: 133,409,050 (GRCm39)	V1819E	unknown	Het
Asprv1	A	G	6: 86,605,532 (GRCm39)	N126S	probably damaging	Het
Atg16l2	T	C	7: 100,949,418 (GRCm39)	Y43C	probably damaging	Het
Atp13a3	G	T	16: 30,140,697 (GRCm39)	T1160K	probably benign	Het
Atp1a3	T	C	7: 24,696,736 (GRCm39)	T272A	probably damaging	Het
Bpifa3	G	T	2: 153,979,562 (GRCm39)		probably null	Het
Bri3	T	C	5: 144,192,716 (GRCm39)	V80A	probably damaging	Het
Ccdc28a	T	A	10: 18,106,320 (GRCm39)	E2V	probably damaging	Het
Ccdc7a	T	A	8: 129,706,577 (GRCm39)		probably benign	Het
Cds2	G	A	2: 132,135,249 (GRCm39)	V47I	probably benign	Het
Cela2a	G	A	4: 141,553,299 (GRCm39)		probably benign	Het
Ckap5	A	G	2: 91,406,548 (GRCm39)	Y783C	probably damaging	Het
Cmtr1	G	C	17: 29,882,217 (GRCm39)	A23P	possibly damaging	Het
Crym	C	A	7: 119,801,163 (GRCm39)		probably null	Het
Def6	T	G	17: 28,447,200 (GRCm39)	D610E	probably benign	Het
Dnajc15	T	C	14: 78,063,898 (GRCm39)	Y130C	probably damaging	Het
Dock8	G	A	19: 25,151,586 (GRCm39)	V1560I	probably damaging	Het
Eif4g3	T	C	4: 137,918,003 (GRCm39)	V1501A	probably damaging	Het
Esyt1	A	G	10: 128,347,379 (GRCm39)	S1049P	probably damaging	Het
Gm4952	G	T	19: 12,604,275 (GRCm39)	R229L	probably damaging	Het
Golga5	T	A	12: 102,455,707 (GRCm39)	H548Q	probably benign	Het
Gspt1	A	T	16: 11,046,057 (GRCm39)	D449E	possibly damaging	Het
Gtf3c2	T	A	5: 31,316,454 (GRCm39)	D732V	probably damaging	Het
Hax1	T	A	3: 89,903,403 (GRCm39)	Q168L	probably damaging	Het
Hectd2	T	A	19: 36,576,291 (GRCm39)	S91T	possibly damaging	Het
Igfbp2	T	A	1: 72,891,303 (GRCm39)	H300Q	probably benign	Het
Insr	G	A	8: 3,235,122 (GRCm39)	P124L	possibly damaging	Het
Irak3	C	A	10: 119,981,594 (GRCm39)	R437L	probably benign	Het
Jhy	C	T	9: 40,808,734 (GRCm39)	V676I	probably damaging	Het
Kcns3	G	A	12: 11,142,328 (GRCm39)	R124C	probably benign	Het
Lactb	G	A	9: 66,863,058 (GRCm39)	R519*	probably null	Het
Mdfic	G	A	6: 15,770,291 (GRCm39)	G94D	probably damaging	Het
Mospd3	A	G	5: 137,598,613 (GRCm39)	V42A	possibly damaging	Het
Mov10	A	G	3: 104,706,912 (GRCm39)	V666A	probably benign	Het
Mucl1	T	C	15: 103,785,663 (GRCm39)	I15V	probably benign	Het
Mug1	T	A	6: 121,828,392 (GRCm39)	V268D	possibly damaging	Het
Myo5c	T	A	9: 75,180,185 (GRCm39)	S709T	probably benign	Het
Nol11	T	A	11: 107,064,195 (GRCm39)	E519V	probably benign	Het
Nrp2	A	T	1: 62,824,267 (GRCm39)	I791L	probably benign	Het
Nudt19	A	G	7: 35,250,972 (GRCm39)	Y256H	probably benign	Het
Nudt8	C	T	19: 4,050,777 (GRCm39)	R42C	probably damaging	Het
Or5ac16	A	G	16: 59,022,369 (GRCm39)	L140P	probably damaging	Het
Or6c213	T	A	10: 129,574,685 (GRCm39)	I34F	probably benign	Het
Pcdhga12	A	G	18: 37,900,422 (GRCm39)	Y418C	probably damaging	Het
Pds5a	A	G	5: 65,784,422 (GRCm39)		probably null	Het
Pdzd2	T	C	15: 12,385,761 (GRCm39)	D1003G	probably benign	Het
Pglyrp4	T	A	3: 90,647,581 (GRCm39)		probably null	Het
Phip	T	C	9: 82,753,408 (GRCm39)	N1779D	probably damaging	Het
Postn	G	T	3: 54,279,527 (GRCm39)	C335F	probably damaging	Het
Ppp4r3a	T	C	12: 101,049,619 (GRCm39)		probably benign	Het
Prrt2	C	T	7: 126,618,590 (GRCm39)	V292M	probably damaging	Het
Rpl18	T	C	7: 45,370,146 (GRCm39)	V138A	possibly damaging	Het
Rps14	G	A	18: 60,910,205 (GRCm39)		probably benign	Het
Sbno1	A	G	5: 124,533,956 (GRCm39)		probably null	Het
Siah2	T	G	3: 58,583,821 (GRCm39)	K155T	probably damaging	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc25a39	T	A	11: 102,294,220 (GRCm39)		probably benign	Het
Slco1a7	T	C	6: 141,658,980 (GRCm39)	M539V	probably benign	Het
Smok2b	T	A	17: 13,455,231 (GRCm39)	C464S	probably damaging	Het
Spata31	G	A	13: 65,069,855 (GRCm39)	V668I	probably benign	Het
Tbxas1	C	A	6: 38,998,067 (GRCm39)	H212N	probably benign	Het
Tenm1	A	G	X: 42,163,572 (GRCm39)	V107A	possibly damaging	Het
Thada	C	T	17: 84,538,329 (GRCm39)	A1560T	probably benign	Het
Tmem241	G	C	18: 12,197,263 (GRCm39)	F65L	probably damaging	Het
Ttc16	C	G	2: 32,659,137 (GRCm39)	E321Q	probably damaging	Het
Ttn	A	T	2: 76,748,929 (GRCm39)	L4040H	possibly damaging	Het
Tyw1	G	A	5: 130,310,863 (GRCm39)	W437*	probably null	Het
Unc79	T	A	12: 102,968,202 (GRCm39)	Y143N	probably damaging	Het
Urb2	C	T	8: 124,764,921 (GRCm39)	R1310W	probably damaging	Het
Vmn2r4	T	C	3: 64,317,370 (GRCm39)	I34V	probably benign	Het
Zfp513	C	T	5: 31,358,010 (GRCm39)	C121Y	possibly damaging	Het
Zfp606	T	G	7: 12,227,456 (GRCm39)	W468G	probably damaging	Het
Zfyve16	C	T	13: 92,640,979 (GRCm39)		probably null	Het

Other mutations in Il12rb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00584:Il12rb2	APN	6	67,334,676 (GRCm39)	missense	probably damaging	0.98
IGL00767:Il12rb2	APN	6	67,280,546 (GRCm39)	missense	possibly damaging	0.63
IGL00835:Il12rb2	APN	6	67,337,551 (GRCm39)	missense	probably damaging	0.99
IGL00864:Il12rb2	APN	6	67,313,738 (GRCm39)	missense	probably benign
IGL00965:Il12rb2	APN	6	67,337,561 (GRCm39)	missense	probably damaging	0.98
IGL01161:Il12rb2	APN	6	67,338,849 (GRCm39)	splice site	probably benign
IGL01980:Il12rb2	APN	6	67,337,519 (GRCm39)	missense	probably benign
IGL02246:Il12rb2	APN	6	67,285,940 (GRCm39)	critical splice donor site	probably null
IGL02807:Il12rb2	APN	6	67,328,300 (GRCm39)	missense	probably damaging	1.00
R0003:Il12rb2	UTSW	6	67,293,270 (GRCm39)	missense	probably damaging	1.00
R0022:Il12rb2	UTSW	6	67,275,903 (GRCm39)	missense	probably damaging	0.99
R0022:Il12rb2	UTSW	6	67,275,903 (GRCm39)	missense	probably damaging	0.99
R0079:Il12rb2	UTSW	6	67,338,889 (GRCm39)	missense	probably benign	0.00
R0462:Il12rb2	UTSW	6	67,280,594 (GRCm39)	missense	possibly damaging	0.95
R0709:Il12rb2	UTSW	6	67,275,888 (GRCm39)	splice site	probably benign
R0828:Il12rb2	UTSW	6	67,333,691 (GRCm39)	missense	probably benign
R1051:Il12rb2	UTSW	6	67,333,719 (GRCm39)	missense	probably benign
R1191:Il12rb2	UTSW	6	67,275,200 (GRCm39)	missense	possibly damaging	0.90
R1446:Il12rb2	UTSW	6	67,286,127 (GRCm39)	missense	probably benign
R1559:Il12rb2	UTSW	6	67,333,576 (GRCm39)	missense	probably benign	0.12
R1677:Il12rb2	UTSW	6	67,280,485 (GRCm39)	missense	probably damaging	1.00
R1689:Il12rb2	UTSW	6	67,313,744 (GRCm39)	missense	probably benign	0.01
R1907:Il12rb2	UTSW	6	67,272,270 (GRCm39)	nonsense	probably null
R1952:Il12rb2	UTSW	6	67,269,300 (GRCm39)	missense	probably damaging	0.99
R2048:Il12rb2	UTSW	6	67,337,529 (GRCm39)	missense	probably benign	0.05
R2074:Il12rb2	UTSW	6	67,337,536 (GRCm39)	missense	probably damaging	1.00
R2351:Il12rb2	UTSW	6	67,338,928 (GRCm39)	nonsense	probably null
R2358:Il12rb2	UTSW	6	67,275,179 (GRCm39)	missense	probably damaging	0.96
R2680:Il12rb2	UTSW	6	67,331,789 (GRCm39)	missense	possibly damaging	0.94
R2920:Il12rb2	UTSW	6	67,337,552 (GRCm39)	missense	probably damaging	0.96
R3107:Il12rb2	UTSW	6	67,337,782 (GRCm39)	missense	probably damaging	1.00
R4420:Il12rb2	UTSW	6	67,293,394 (GRCm39)	splice site	probably null
R4838:Il12rb2	UTSW	6	67,286,121 (GRCm39)	missense	probably damaging	1.00
R5391:Il12rb2	UTSW	6	67,269,404 (GRCm39)	missense	probably benign	0.24
R5532:Il12rb2	UTSW	6	67,269,246 (GRCm39)	missense	probably damaging	1.00
R5696:Il12rb2	UTSW	6	67,272,262 (GRCm39)	missense	possibly damaging	0.94
R5891:Il12rb2	UTSW	6	67,337,674 (GRCm39)	missense	probably damaging	0.97
R6482:Il12rb2	UTSW	6	67,333,670 (GRCm39)	missense	probably damaging	1.00
R6749:Il12rb2	UTSW	6	67,338,950 (GRCm39)	start gained	probably benign
R6813:Il12rb2	UTSW	6	67,269,358 (GRCm39)	missense	probably damaging	0.98
R6957:Il12rb2	UTSW	6	67,269,636 (GRCm39)	missense	possibly damaging	0.60
R7312:Il12rb2	UTSW	6	67,333,617 (GRCm39)	missense	probably benign	0.29
R7361:Il12rb2	UTSW	6	67,280,450 (GRCm39)	missense	possibly damaging	0.48
R7813:Il12rb2	UTSW	6	67,333,635 (GRCm39)	missense	possibly damaging	0.72
R7992:Il12rb2	UTSW	6	67,328,311 (GRCm39)	nonsense	probably null
R8422:Il12rb2	UTSW	6	67,337,800 (GRCm39)	missense	probably benign	0.20
R8752:Il12rb2	UTSW	6	67,328,265 (GRCm39)	missense	probably damaging	1.00
R9648:Il12rb2	UTSW	6	67,333,587 (GRCm39)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- GCATGACTATCTTGGGGTCC -3'
(R):5'- AACTACCTTCCTAGCCATGAAGG -3'

Sequencing Primer
(F):5'- ACTATCTTGGGGTCCTTTCTATATG -3'
(R):5'- TGAAGGCTATTTACCCTCCAACATAG -3'

Posted On

2017-01-03