Incidental Mutation 'IGL01161:Il12rb2'
ID 53605
Institutional Source Australian Phenomics Network (link to record)
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 # IGL01161
Quality Score
Status
Chromosome 6
Chromosomal Location 67268302-67353172 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 67338849 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000010605 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018485]
AlphaFold P97378
Predicted Effect probably benign
Transcript: ENSMUST00000018485
SMART Domains Protein: ENSMUSP00000010605
Gene: ENSMUSG00000018341

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
Coding Region Coverage
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 T A 2: 103,535,463 (GRCm39) D543E probably benign Het
Acad9 A C 3: 36,144,274 (GRCm39) N583T possibly damaging Het
Arhgap5 G A 12: 52,563,643 (GRCm39) V205M probably damaging Het
Arid1b G A 17: 5,392,674 (GRCm39) R2068Q probably damaging Het
Bex3 T C X: 135,172,218 (GRCm39) F60S probably damaging Het
Casd1 C T 6: 4,619,833 (GRCm39) P193S possibly damaging Het
Ceacam11 A T 7: 17,712,435 (GRCm39) I295F possibly damaging Het
Ceacam3 T A 7: 16,885,782 (GRCm39) N128K probably benign Het
Cyp1a2 C T 9: 57,587,176 (GRCm39) E372K probably damaging Het
Ddb1 T G 19: 10,583,071 (GRCm39) M1R probably null Het
Ecel1 T C 1: 87,080,915 (GRCm39) D329G possibly damaging Het
Fat2 T C 11: 55,175,017 (GRCm39) N1899D probably benign Het
Gli3 A G 13: 15,722,983 (GRCm39) probably null Het
Gm20507 A T 17: 33,863,727 (GRCm39) probably benign Het
Gml T G 15: 74,685,688 (GRCm39) Y99S probably damaging Het
Gpr119 G T X: 47,762,125 (GRCm39) probably benign Het
Hcn1 T C 13: 117,793,458 (GRCm39) Y237H unknown Het
Hook2 G A 8: 85,721,560 (GRCm39) V273I probably benign Het
Kdm2a A G 19: 4,369,279 (GRCm39) F1112S probably benign Het
Lpl A T 8: 69,345,277 (GRCm39) K94* probably null Het
Lrrc8a T A 2: 30,145,822 (GRCm39) L212Q probably damaging Het
Me2 A T 18: 73,903,887 (GRCm39) probably benign Het
Mmp11 A T 10: 75,762,655 (GRCm39) M266K probably benign Het
Mprip T A 11: 59,622,399 (GRCm39) V162E possibly damaging Het
Nsf C T 11: 103,752,711 (GRCm39) probably benign Het
Or56b2 T C 7: 104,337,588 (GRCm39) V122A probably benign Het
Pcif1 T A 2: 164,727,708 (GRCm39) L167H probably damaging Het
Reps1 T C 10: 17,969,643 (GRCm39) S249P probably damaging Het
Sdf4 T A 4: 156,093,763 (GRCm39) M299K probably benign Het
Slc30a7 A G 3: 115,747,759 (GRCm39) V344A possibly damaging Het
Svep1 G A 4: 58,146,569 (GRCm39) P358S probably damaging Het
Syt9 G T 7: 107,024,356 (GRCm39) R83L probably damaging Het
Tbc1d15 T C 10: 115,038,435 (GRCm39) I593V probably benign Het
Trio T A 15: 27,749,867 (GRCm39) N1134I probably damaging Het
Trpv3 A G 11: 73,187,544 (GRCm39) probably benign Het
Ugp2 T A 11: 21,273,273 (GRCm39) I449L possibly damaging Het
Usp24 C A 4: 106,294,041 (GRCm39) H2595N probably benign Het
Vat1l A G 8: 115,096,629 (GRCm39) N370S possibly damaging Het
Wwc1 C A 11: 35,758,103 (GRCm39) D748Y probably damaging Het
Zfyve9 G A 4: 108,538,261 (GRCm39) H1002Y probably damaging 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
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
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
Posted On 2013-06-28