Mutagenetix > Incidental Mutation

Incidental Mutation 'R2351:Il12rb2'

246128

Institutional Source

Beutler Lab

Gene Symbol

Il12rb2

Ensembl Gene

ENSMUSG00000018341

Gene Name

interleukin 12 receptor, beta 2

Synonyms

A930027I18Rik, Ifnm, IL-12RB2

MMRRC Submission

040333-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2351 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67268302-67353172 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 67338928 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 3 (Q3*)

Ref Sequence

ENSEMBL: ENSMUSP00000010605 (fasta)

Gene Model

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

AlphaFold

P97378

Predicted Effect

probably null
Transcript: ENSMUST00000018485
AA Change: Q3*

SMART Domains

Protein: ENSMUSP00000010605
Gene: ENSMUSG00000018341
AA Change: Q3*

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.2%

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 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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	A	T	1: 138,779,846 (GRCm39)	Y135*	probably null	Het
Aadacl4fm1	A	T	4: 144,255,348 (GRCm39)	Y256F	probably damaging	Het
Acad10	A	T	5: 121,767,990 (GRCm39)	I820K	probably benign	Het
Arl8b	A	T	6: 108,798,484 (GRCm39)	I178F	possibly damaging	Het
Asap1	A	T	15: 64,007,653 (GRCm39)		probably null	Het
Atp2b2	A	T	6: 113,766,718 (GRCm39)	I552N	possibly damaging	Het
C130074G19Rik	G	T	1: 184,615,060 (GRCm39)	D43E	probably benign	Het
Ccdc162	C	A	10: 41,431,968 (GRCm39)		probably null	Het
Ccdc186	T	G	19: 56,787,129 (GRCm39)	K613T	possibly damaging	Het
Cggbp1	T	A	16: 64,676,046 (GRCm39)	D37E	possibly damaging	Het
Cntn3	A	T	6: 102,314,344 (GRCm39)	N123K	possibly damaging	Het
Col18a1	C	T	10: 76,948,538 (GRCm39)	G325S	probably benign	Het
Cwc25	G	T	11: 97,638,218 (GRCm39)	T405K	probably damaging	Het
Cyp4a31	T	C	4: 115,428,510 (GRCm39)	V370A	possibly damaging	Het
Cyp4f13	T	G	17: 33,144,570 (GRCm39)	I309L	probably benign	Het
Dap3	A	T	3: 88,840,870 (GRCm39)		probably null	Het
Dchs1	G	T	7: 105,403,301 (GRCm39)	D3080E	probably benign	Het
Ern2	A	G	7: 121,770,731 (GRCm39)	V762A	probably damaging	Het
Fgr	C	T	4: 132,724,548 (GRCm39)	R255C	probably damaging	Het
Gcm2	A	T	13: 41,257,094 (GRCm39)	D218E	probably benign	Het
Gfi1	A	G	5: 107,869,640 (GRCm39)	S131P	probably damaging	Het
Grm8	A	T	6: 28,126,118 (GRCm39)	C3S	possibly damaging	Het
Gucy2d	A	G	7: 98,113,226 (GRCm39)	D840G	probably benign	Het
H3f3a	T	C	1: 180,637,723 (GRCm39)	T81A	probably benign	Het
Igsf23	C	T	7: 19,678,723 (GRCm39)	W22*	probably null	Het
Ino80d	A	T	1: 63,124,994 (GRCm39)	L156H	probably benign	Het
Kdm2a	G	A	19: 4,379,154 (GRCm39)	P554S	probably benign	Het
Lefty1	T	A	1: 180,764,807 (GRCm39)	L244H	possibly damaging	Het
Mdn1	T	A	4: 32,750,010 (GRCm39)	S4398T	probably benign	Het
Myh10	A	G	11: 68,683,965 (GRCm39)	D1126G	probably damaging	Het
Myo16	G	A	8: 10,644,905 (GRCm39)	D1746N	possibly damaging	Het
Myom1	A	T	17: 71,341,574 (GRCm39)	D111V	probably damaging	Het
Naip6	T	A	13: 100,420,169 (GRCm39)	D1367V	probably damaging	Het
Nbeal1	A	T	1: 60,276,257 (GRCm39)	H666L	possibly damaging	Het
Nsmaf	T	A	4: 6,437,921 (GRCm39)	I77F	probably damaging	Het
Nvl	T	C	1: 180,958,357 (GRCm39)	T231A	probably benign	Het
Obscn	T	C	11: 59,003,438 (GRCm39)	R1287G	probably damaging	Het
Opn3	T	C	1: 175,520,077 (GRCm39)	D9G	probably benign	Het
Or4a81	T	C	2: 89,619,522 (GRCm39)	Y58C	probably damaging	Het
Or4c114	C	T	2: 88,904,743 (GRCm39)	G231S	possibly damaging	Het
Or6a2	A	T	7: 106,600,883 (GRCm39)	Y61*	probably null	Het
Or6c8b	A	G	10: 128,882,797 (GRCm39)	V45A	probably benign	Het
Or6k2	T	A	1: 173,986,486 (GRCm39)	V49D	probably damaging	Het
Or8k24	C	T	2: 86,216,471 (GRCm39)	C97Y	probably damaging	Het
Parp10	A	T	15: 76,127,056 (GRCm39)	S101R	probably benign	Het
Pdhx	T	A	2: 102,854,562 (GRCm39)	K399*	probably null	Het
Pdia4	A	T	6: 47,773,848 (GRCm39)		probably null	Het
Pla2g4f	T	C	2: 120,130,923 (GRCm39)	D844G	probably benign	Het
Prtg	C	A	9: 72,764,106 (GRCm39)	D526E	probably damaging	Het
Rassf6	T	C	5: 90,779,418 (GRCm39)	D5G	probably benign	Het
Riok3	C	T	18: 12,282,724 (GRCm39)	Q388*	probably null	Het
Robo4	T	A	9: 37,322,956 (GRCm39)	F825L	probably benign	Het
Rpl13a-ps1	C	T	19: 50,018,868 (GRCm39)	E103K	probably benign	Het
Rpl18a	A	T	8: 71,348,864 (GRCm39)	H37Q	probably benign	Het
Ryr1	A	T	7: 28,774,718 (GRCm39)	S2301T	probably benign	Het
Slc39a9	T	A	12: 80,691,660 (GRCm39)	D2E	possibly damaging	Het
Slco5a1	C	T	1: 13,060,158 (GRCm39)	V188I	probably benign	Het
Son	T	A	16: 91,454,547 (GRCm39)	M1098K	probably damaging	Het
Spag9	A	G	11: 93,983,726 (GRCm39)	D701G	probably damaging	Het
Ssmem1	T	C	6: 30,512,495 (GRCm39)	F46S	possibly damaging	Het
Sspo	C	T	6: 48,441,803 (GRCm39)	R1938W	probably damaging	Het
Sstr3	T	C	15: 78,424,121 (GRCm39)	I209V	probably benign	Het
Tlk2	A	G	11: 105,100,656 (GRCm39)	Y87C	probably damaging	Het
Traf4	G	A	11: 78,051,002 (GRCm39)	R385W	probably damaging	Het
Triobp	G	A	15: 78,888,780 (GRCm39)	V1962M	probably benign	Het
Tspan12	T	G	6: 21,835,506 (GRCm39)	I56L	probably benign	Het
Upp2	T	A	2: 58,653,674 (GRCm39)		probably null	Het
Vps13b	T	C	15: 35,869,457 (GRCm39)	W2654R	probably damaging	Het
Zc3h18	C	T	8: 123,129,926 (GRCm39)	R435*	probably null	Het
Zfta	T	C	19: 7,399,609 (GRCm39)	I247T	probably damaging	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
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
R5704:Il12rb2	UTSW	6	67,269,197 (GRCm39)	missense	possibly damaging	0.53
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'- GCCATTATGCTTCATGTTTCTTAGG -3'
(R):5'- GGTGATGATGCTTCAGTTTCCC -3'

Sequencing Primer
(F):5'- AGGCAGTTTCTTAAGAGTAAATGC -3'
(R):5'- GATGCTTCAGTTTCCCAGTTTTCAG -3'

Posted On

2014-10-30