Mutagenetix > Incidental Mutation

Incidental Mutation 'R7361:Il12rb2'

571331

Institutional Source

Beutler Lab

Gene Symbol

Il12rb2

Ensembl Gene

ENSMUSG00000018341

Gene Name

interleukin 12 receptor, beta 2

Synonyms

A930027I18Rik, Ifnm, IL-12RB2

MMRRC Submission

045447-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7361 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67268302-67353172 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 67280450 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 586 (L586I)

Ref Sequence

ENSEMBL: ENSMUSP00000010605 (fasta)

Gene Model

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

AlphaFold

P97378

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018485
AA Change: L586I

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000010605
Gene: ENSMUSG00000018341
AA Change: L586I

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: ENSMUST00000117441
AA Change: L252I

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113267
Gene: ENSMUSG00000018341
AA Change: L252I

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630073D07Rik	C	T	6: 132,604,434 (GRCm39)	V4I	unknown	Het
Actn1	A	T	12: 80,240,489 (GRCm39)	D199E	probably benign	Het
Adam17	T	C	12: 21,375,602 (GRCm39)	D739G	probably damaging	Het
Agmat	T	C	4: 141,474,163 (GRCm39)	S15P	probably benign	Het
Ahsa2	A	G	11: 23,441,099 (GRCm39)	S229P	probably damaging	Het
Arhgef3	A	G	14: 26,987,535 (GRCm39)	D36G	possibly damaging	Het
C6	C	A	15: 4,826,404 (GRCm39)	Y662*	probably null	Het
Ccs	T	C	19: 4,883,378 (GRCm39)	D140G	probably benign	Het
Cdc42bpb	A	G	12: 111,312,039 (GRCm39)	L65P	probably damaging	Het
Cdh24	A	T	14: 54,876,378 (GRCm39)	V149E	possibly damaging	Het
Cdk12	C	A	11: 98,101,294 (GRCm39)	S384*	probably null	Het
Cep350	G	A	1: 155,777,237 (GRCm39)	A1701V	probably damaging	Het
Ces1g	T	C	8: 94,060,307 (GRCm39)	Q104R	not run	Het
Chd5	A	G	4: 152,447,745 (GRCm39)	H537R	probably damaging	Het
Cln5	T	A	14: 103,313,339 (GRCm39)	V197D	probably damaging	Het
Coq7	A	G	7: 118,128,798 (GRCm39)	V79A	probably benign	Het
Cp	A	T	3: 20,018,470 (GRCm39)	N58I	probably benign	Het
Cplx2	A	T	13: 54,526,639 (GRCm39)	M16L	probably benign	Het
Crot	A	G	5: 9,027,534 (GRCm39)	L266S	probably damaging	Het
Ctbs	T	A	3: 146,164,509 (GRCm39)	Y221N	probably damaging	Het
Cul7	T	A	17: 46,967,933 (GRCm39)	L707Q	probably damaging	Het
D430041D05Rik	G	A	2: 104,085,363 (GRCm39)	T378I	possibly damaging	Het
Dixdc1	T	C	9: 50,599,953 (GRCm39)	I364V	probably damaging	Het
Dnah11	T	A	12: 117,982,477 (GRCm39)	H2564L	probably damaging	Het
Dnajc3	T	C	14: 119,175,576 (GRCm39)	Y26H	probably benign	Het
Dpysl2	G	A	14: 67,071,664 (GRCm39)	H159Y	possibly damaging	Het
Ehmt1	T	A	2: 24,746,713 (GRCm39)	K423I	possibly damaging	Het
Eif1ad4	A	G	12: 87,862,170 (GRCm39)	N11D	unknown	Het
Enpp7	A	G	11: 118,882,985 (GRCm39)	N353S	probably benign	Het
Ext1	G	A	15: 53,208,119 (GRCm39)	A214V	probably damaging	Het
Fbh1	A	T	2: 11,751,887 (GRCm39)	I937N	probably damaging	Het
Fbxo39	T	C	11: 72,207,800 (GRCm39)	Y51H	possibly damaging	Het
Firrm	A	T	1: 163,813,602 (GRCm39)	D207E	possibly damaging	Het
Fry	A	G	5: 150,360,312 (GRCm39)	H1986R	possibly damaging	Het
Grem2	T	C	1: 174,664,514 (GRCm39)	K112E	probably benign	Het
Gucy1a1	A	G	3: 82,005,027 (GRCm39)	V586A	probably damaging	Het
Il18	T	C	9: 50,490,614 (GRCm39)	I83T	probably damaging	Het
Irs1	A	T	1: 82,266,835 (GRCm39)	Y460*	probably null	Het
Jak1	G	T	4: 101,041,536 (GRCm39)	Q161K	possibly damaging	Het
Jakmip1	T	A	5: 37,276,148 (GRCm39)	L486Q	probably damaging	Het
Jmjd1c	C	A	10: 67,054,143 (GRCm39)	Q16K	probably benign	Het
Kidins220	T	C	12: 25,106,999 (GRCm39)	L1393P	probably benign	Het
Klhl24	A	C	16: 19,936,750 (GRCm39)	I453L	probably benign	Het
Krtap2-4	C	T	11: 99,505,420 (GRCm39)	D64N	probably damaging	Het
Man1a	T	A	10: 53,784,105 (GRCm39)	D592V	probably damaging	Het
Mepe	T	A	5: 104,485,009 (GRCm39)	Y50N	probably benign	Het
Mier3	G	A	13: 111,841,783 (GRCm39)	G115S	possibly damaging	Het
Muc4	T	A	16: 32,754,670 (GRCm38)	S1515T	probably benign	Het
Nalcn	T	C	14: 123,529,251 (GRCm39)	D1408G	probably benign	Het
Nav1	T	C	1: 135,380,591 (GRCm39)	M1443V	unknown	Het
Nckap1l	A	C	15: 103,379,709 (GRCm39)	N332T	possibly damaging	Het
Neurl4	T	A	11: 69,802,905 (GRCm39)	L1467Q	probably benign	Het
Notch2	A	G	3: 98,038,718 (GRCm39)	N1287S	probably benign	Het
Nr4a3	C	T	4: 48,083,203 (GRCm39)	P579S	probably benign	Het
Nrxn2	A	T	19: 6,567,112 (GRCm39)	H1329L	probably benign	Het
Nynrin	A	T	14: 56,107,857 (GRCm39)	H988L	possibly damaging	Het
Or1e34	T	A	11: 73,778,827 (GRCm39)	I124F	probably damaging	Het
Or4c31	A	G	2: 88,291,836 (GRCm39)	T70A	probably benign	Het
Or4c3d	A	G	2: 89,882,089 (GRCm39)	I193T	probably benign	Het
Or52e3	G	T	7: 102,869,830 (GRCm39)	D302Y	possibly damaging	Het
Or7g35	T	A	9: 19,495,856 (GRCm39)	F8I	probably benign	Het
Pclo	G	A	5: 14,843,882 (GRCm39)	S1534N	probably damaging	Het
Pign	A	G	1: 105,512,778 (GRCm39)	V635A	probably benign	Het
Pkhd1	T	C	1: 20,664,177 (GRCm39)	T134A	probably damaging	Het
Plcb4	A	T	2: 135,818,068 (GRCm39)	N790I	possibly damaging	Het
Plxna2	G	T	1: 194,482,087 (GRCm39)	C1453F	probably damaging	Het
Plxna4	A	G	6: 32,173,057 (GRCm39)		probably null	Het
Pnpla2	A	G	7: 141,037,344 (GRCm39)	I116V	possibly damaging	Het
Polq	A	G	16: 36,880,790 (GRCm39)	T985A	probably benign	Het
Pramel11	T	C	4: 143,622,456 (GRCm39)	T300A	possibly damaging	Het
Prex1	T	C	2: 166,555,490 (GRCm39)	N50S	probably benign	Het
Ptgfrn	G	A	3: 100,984,760 (GRCm39)	A144V	probably benign	Het
Rad54b	G	A	4: 11,599,782 (GRCm39)	G329S	probably damaging	Het
Rrbp1	A	G	2: 143,809,364 (GRCm39)	L931S	probably benign	Het
Saxo4	T	G	19: 10,456,943 (GRCm39)	D134A	probably damaging	Het
Sipa1l2	A	G	8: 126,180,071 (GRCm39)	S1109P	probably damaging	Het
Slc26a7	G	T	4: 14,546,305 (GRCm39)	N341K	probably damaging	Het
Smg1	A	C	7: 117,784,200 (GRCm39)	D958E	unknown	Het
Smg6	T	A	11: 74,820,979 (GRCm39)	S417T	probably benign	Het
Srgap3	A	G	6: 112,723,882 (GRCm39)	V550A	probably damaging	Het
Terb1	T	A	8: 105,195,431 (GRCm39)	D570V	probably damaging	Het
Tet3	A	G	6: 83,345,076 (GRCm39)	V1787A	probably benign	Het
Tor1a	A	T	2: 30,853,753 (GRCm39)	D192E	probably benign	Het
Tpr	T	C	1: 150,323,372 (GRCm39)	S2379P	possibly damaging	Het
Trip12	A	T	1: 84,728,163 (GRCm39)	F1138L	probably damaging	Het
Trpv1	T	C	11: 73,151,203 (GRCm39)	L797P	probably damaging	Het
Tut1	T	C	19: 8,942,698 (GRCm39)	L595P	probably damaging	Het
Ubl7	T	C	9: 57,821,905 (GRCm39)	S85P	probably damaging	Het
Urb1	C	A	16: 90,571,656 (GRCm39)	S1051I	probably damaging	Het
Usp17le	A	G	7: 104,418,084 (GRCm39)	W353R	probably damaging	Het
Usp44	T	C	10: 93,682,330 (GRCm39)	L260S	probably benign	Het
Wsb1	T	A	11: 79,131,623 (GRCm39)		probably null	Het
Xrcc2	A	T	5: 25,897,755 (GRCm39)	C65S	probably damaging	Het
Zfp316	T	A	5: 143,240,430 (GRCm39)	M530L	probably benign	Het
Zfp473	T	C	7: 44,382,563 (GRCm39)	H590R	probably damaging	Het
Zfp983	T	A	17: 21,880,850 (GRCm39)	H259Q	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
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
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
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'- ACCGTTTGCTTAGTACGGAAC -3'
(R):5'- TGGAGGGTGACAGAAACCTC -3'

Sequencing Primer
(F):5'- GGAACGCATACTCAGTAACTTTGC -3'
(R):5'- GGGTGACAGAAACCTCTTGTG -3'

Posted On

2019-09-13