Mutagenetix > Incidental Mutation

Incidental Mutation 'R5696:Il12rb2'

450660

Institutional Source

Beutler Lab

Gene Symbol

Il12rb2

Ensembl Gene

ENSMUSG00000018341

Gene Name

interleukin 12 receptor, beta 2

Synonyms

A930027I18Rik, Ifnm, IL-12RB2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5696 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67268302-67353172 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 67272262 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 341 (Q341H)

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: Q675H

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000010605
Gene: ENSMUSG00000018341
AA Change: Q675H

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: Q341H

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113267
Gene: ENSMUSG00000018341
AA Change: Q341H

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.6%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam8	G	A	7: 139,569,159 (GRCm39)	R186W	probably benign	Het
Afg3l2	A	G	18: 67,540,529 (GRCm39)	I660T	probably damaging	Het
Amtn	T	A	5: 88,532,944 (GRCm39)	Y186*	probably null	Het
Atosa	A	G	9: 74,917,399 (GRCm39)	E666G	probably benign	Het
Atrip	A	G	9: 108,894,569 (GRCm39)	S453P	possibly damaging	Het
Bahcc1	T	C	11: 120,164,813 (GRCm39)	L840P	probably damaging	Het
Capn2	T	C	1: 182,306,165 (GRCm39)	E527G	possibly damaging	Het
Caprin2	A	T	6: 148,779,316 (GRCm39)	Y164N	possibly damaging	Het
Ccnh	T	A	13: 85,344,446 (GRCm39)		probably null	Het
Cdon	G	T	9: 35,403,162 (GRCm39)	V1091F	possibly damaging	Het
Ceacam14	A	G	7: 17,548,267 (GRCm39)	Y119C	probably damaging	Het
Ces2h	A	G	8: 105,745,611 (GRCm39)	K445E	possibly damaging	Het
Cfap46	A	G	7: 139,191,947 (GRCm39)	S2357P	probably damaging	Het
Commd4	A	T	9: 57,063,499 (GRCm39)	S86R	possibly damaging	Het
Cpsf6	A	T	10: 117,196,934 (GRCm39)		probably benign	Het
Dag1	A	T	9: 108,086,646 (GRCm39)	V165E	probably benign	Het
Dmxl1	A	T	18: 50,065,008 (GRCm39)	K2618*	probably null	Het
Dnah17	A	G	11: 117,991,882 (GRCm39)	Y1229H	probably benign	Het
Endov	T	A	11: 119,382,625 (GRCm39)	L24Q	probably damaging	Het
Fap	C	T	2: 62,332,803 (GRCm39)	V717M	probably damaging	Het
Fbxl2	A	G	9: 113,815,546 (GRCm39)	L239P	probably damaging	Het
Fbxl5	A	T	5: 43,916,182 (GRCm39)	V367D	possibly damaging	Het
Fkbp10	G	T	11: 100,314,352 (GRCm39)	W384L	probably damaging	Het
Gbp8	C	T	5: 105,166,682 (GRCm39)	V216I	possibly damaging	Het
Gclm	G	A	3: 122,059,936 (GRCm39)	A239T	probably benign	Het
Gm11569	C	T	11: 99,689,556 (GRCm39)		probably benign	Het
Gnas	C	A	2: 174,141,468 (GRCm39)		probably benign	Het
Grb10	T	A	11: 11,883,566 (GRCm39)	N508I	probably benign	Het
Gykl1	T	G	18: 52,827,267 (GRCm39)	I158M	probably benign	Het
Ide	G	A	19: 37,295,420 (GRCm39)	T214M	unknown	Het
Ints1	T	C	5: 139,740,744 (GRCm39)	E1946G	probably benign	Het
Kdelr3	T	C	15: 79,410,100 (GRCm39)		probably null	Het
Kif1b	A	C	4: 149,358,306 (GRCm39)		probably null	Het
Kri1	A	G	9: 21,191,533 (GRCm39)	I320T	probably damaging	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Lin9	T	C	1: 180,486,646 (GRCm39)	S111P	probably benign	Het
Lpcat2b	C	A	5: 107,580,773 (GRCm39)	P34Q	probably damaging	Het
Ltk	T	A	2: 119,590,080 (GRCm39)	T49S	probably benign	Het
Map3k9	A	T	12: 81,780,896 (GRCm39)	H421Q	probably benign	Het
Mapkbp1	T	A	2: 119,852,201 (GRCm39)		probably null	Het
Mcm4	A	G	16: 15,443,434 (GRCm39)	S830P	probably damaging	Het
Nek10	T	A	14: 14,860,736 (GRCm38)		probably null	Het
Nlrp9b	A	T	7: 19,758,417 (GRCm39)	R551S	probably benign	Het
Nol4l	T	C	2: 153,260,026 (GRCm39)	T143A	probably damaging	Het
Or1r1	T	C	11: 73,875,362 (GRCm39)	H24R	possibly damaging	Het
Or51g1	T	A	7: 102,633,748 (GRCm39)	T208S	probably benign	Het
Or6z5	T	C	7: 6,477,742 (GRCm39)		probably null	Het
Or7a39	A	T	10: 78,715,919 (GRCm39)	R304S	probably benign	Het
Pde4dip	G	T	3: 97,616,806 (GRCm39)	A1812D	probably damaging	Het
Plekhb1	C	A	7: 100,305,960 (GRCm39)	G26C	probably damaging	Het
Polr1a	T	A	6: 71,906,410 (GRCm39)	F409I	probably benign	Het
Ptpn13	T	A	5: 103,702,625 (GRCm39)	M1197K	probably benign	Het
Qrich2	T	C	11: 116,335,828 (GRCm39)	I2114V	probably damaging	Het
Rbm27	T	C	18: 42,450,731 (GRCm39)	Y449H	probably damaging	Het
Rp1l1	A	G	14: 64,267,195 (GRCm39)	D927G	probably damaging	Het
Secisbp2	C	A	13: 51,833,857 (GRCm39)	Q666K	probably damaging	Het
Slc45a2	T	C	15: 11,001,219 (GRCm39)	I106T	probably damaging	Het
Slx4	G	T	16: 3,797,831 (GRCm39)	Q1518K	probably damaging	Het
Smim10l1	T	C	6: 133,082,489 (GRCm39)	F12S	probably damaging	Het
Son	T	C	16: 91,468,301 (GRCm39)	V306A	possibly damaging	Het
Stab1	A	G	14: 30,882,178 (GRCm39)	S506P	probably benign	Het
Syne2	A	C	12: 76,040,919 (GRCm39)	D3859A	probably benign	Het
Tab1	T	A	15: 80,032,930 (GRCm39)	Y71*	probably null	Het
Tarbp1	A	C	8: 127,174,079 (GRCm39)	M909R	probably damaging	Het
Tex15	T	G	8: 34,063,220 (GRCm39)	S1157R	probably benign	Het
Tnni3	G	A	7: 4,523,453 (GRCm39)	T120I	probably benign	Het
Ttn	T	C	2: 76,747,888 (GRCm39)	E4387G	probably benign	Het
Ugt3a1	G	A	15: 9,361,534 (GRCm39)		silent	Het
Unc5d	T	C	8: 29,156,870 (GRCm39)	I783V	probably benign	Het
Usp40	T	C	1: 87,923,474 (GRCm39)	T266A	probably benign	Het
Vmn2r59	C	T	7: 41,695,468 (GRCm39)	V315I	probably benign	Het
Zbtb48	G	T	4: 152,105,067 (GRCm39)	H532N	probably damaging	Het
Zfp1005	C	T	2: 150,111,394 (GRCm39)	H695Y	possibly 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
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'- TCCTTAGCAACTCAGCTCAC -3'
(R):5'- AGCAAATTCTAAGTGGCCGC -3'

Sequencing Primer
(F):5'- AGCTCACCCACAGAATTTCCTTC -3'
(R):5'- ATTCTAAGTGGCCGCAGCATG -3'

Posted On

2017-01-03