Incidental Mutation 'R5391:Il12rb2'
ID 425846
Institutional Source Beutler Lab
Gene Symbol Il12rb2
Ensembl Gene ENSMUSG00000018341
Gene Name interleukin 12 receptor, beta 2
Synonyms A930027I18Rik, Ifnm, IL-12RB2
MMRRC Submission 042963-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5391 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 67268302-67353172 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 67269404 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 803 (N803S)
Ref Sequence ENSEMBL: ENSMUSP00000010605 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018485] [ENSMUST00000042990] [ENSMUST00000117441]
AlphaFold P97378
Predicted Effect probably benign
Transcript: ENSMUST00000018485
AA Change: N803S

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000010605
Gene: ENSMUSG00000018341
AA Change: N803S

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000117441
AA Change: N469S

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000113267
Gene: ENSMUSG00000018341
AA Change: N469S

DomainStartEndE-ValueType
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: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b G A 5: 8,855,481 (GRCm39) M38I probably null Het
Actl7a A G 4: 56,743,661 (GRCm39) T63A probably benign Het
Amfr G A 8: 94,702,676 (GRCm39) P497S probably damaging Het
Ankrd33b T C 15: 31,325,352 (GRCm39) I122V probably damaging Het
Asap1 G T 15: 63,965,901 (GRCm39) T1011K possibly damaging Het
Cbfa2t3 G A 8: 123,360,134 (GRCm39) R506* probably null Het
Ccs C G 19: 4,883,510 (GRCm39) C96S probably benign Het
Cpt1a A G 19: 3,399,260 (GRCm39) D20G probably damaging Het
Ctdspl2 G A 2: 121,834,629 (GRCm39) probably null Het
Dhx57 T C 17: 80,582,510 (GRCm39) Y365C probably damaging Het
Dnah3 C T 7: 119,689,299 (GRCm39) M38I probably benign Het
Dnajc6 T C 4: 101,485,355 (GRCm39) probably null Het
Elac2 A G 11: 64,885,120 (GRCm39) S450G probably benign Het
Gdf9 T C 11: 53,324,624 (GRCm39) V131A probably benign Het
Itgb4 T A 11: 115,875,894 (GRCm39) M477K probably benign Het
Itgb8 A C 12: 119,134,476 (GRCm39) C530W probably damaging Het
Krt78 C A 15: 101,860,263 (GRCm39) E218* probably null Het
Lpar1 A G 4: 58,486,902 (GRCm39) L105P probably damaging Het
Megf8 G A 7: 25,039,714 (GRCm39) G936D possibly damaging Het
Mov10 G A 3: 104,709,849 (GRCm39) H346Y probably benign Het
Nfia A G 4: 97,671,538 (GRCm39) I83V probably damaging Het
Or5b101 G T 19: 13,005,150 (GRCm39) A181E probably damaging Het
Or6d15 T C 6: 116,559,808 (GRCm39) Y33C probably damaging Het
Pcdhgb6 T G 18: 37,875,640 (GRCm39) I116S probably damaging Het
Pdcd6ip G T 9: 113,520,586 (GRCm39) Q133K probably damaging Het
Phkb A G 8: 86,744,097 (GRCm39) D582G probably damaging Het
Pik3cd A T 4: 149,743,588 (GRCm39) V207E probably damaging Het
Ptov1 T C 7: 44,513,008 (GRCm39) Q397R probably damaging Het
Rangap1 A G 15: 81,590,647 (GRCm39) F482L probably benign Het
Rapgef1 T A 2: 29,627,977 (GRCm39) N1052K probably damaging Het
Rasl12 G T 9: 65,305,949 (GRCm39) A35S probably damaging Het
Rnf169 A T 7: 99,584,367 (GRCm39) probably null Het
Sec16a A G 2: 26,330,044 (GRCm39) V657A possibly damaging Het
Sin3a G A 9: 57,012,957 (GRCm39) R612H probably damaging Het
Six6 T A 12: 72,988,475 (GRCm39) L216* probably null Het
Tbce T C 13: 14,180,550 (GRCm39) I293M probably damaging Het
Tektl1 G A 10: 78,588,688 (GRCm39) Q41* probably null Het
Tmem176a T C 6: 48,821,630 (GRCm39) L204P probably damaging Het
Tmem87a A G 2: 120,193,358 (GRCm39) probably null Het
Tns1 A T 1: 74,029,568 (GRCm39) probably null Het
Usf3 T A 16: 44,037,826 (GRCm39) S769T probably benign Het
Vmn2r82 A G 10: 79,192,491 (GRCm39) T23A probably null Het
Vps26a A G 10: 62,292,526 (GRCm39) *328Q probably null Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Wwc2 A T 8: 48,316,906 (GRCm39) I729K unknown Het
Zbtb44 A G 9: 30,964,601 (GRCm39) probably null Het
Zfp800 A T 6: 28,242,992 (GRCm39) S658T probably damaging Het
Zfp825 T C 13: 74,628,665 (GRCm39) T284A possibly damaging Het
Zfp935 G T 13: 62,602,632 (GRCm39) Y189* probably null Het
Zkscan1 T A 5: 138,095,363 (GRCm39) H203Q probably benign Het
Zkscan14 T C 5: 145,132,604 (GRCm39) D309G probably benign Het
Other mutations in Il12rb2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- ACTCATGAGGGAGTCATAGCC -3'
(R):5'- CTTCAAAAGAGGCCAAGGATTC -3'

Sequencing Primer
(F):5'- GGGAGTCATAGCCCATCTTTAACCG -3'
(R):5'- GGCCAAGGATTCCAAGGCTAC -3'
Posted On 2016-08-04