Incidental Mutation 'IGL00584:Il12rb2'
ID 332709
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 # IGL00584
Quality Score
Status
Chromosome 6
Chromosomal Location 67268302-67353172 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 67334676 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 168 (T168A)
Ref Sequence ENSEMBL: ENSMUSP00000010605 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018485]
AlphaFold P97378
Predicted Effect probably damaging
Transcript: ENSMUST00000018485
AA Change: T168A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000010605
Gene: ENSMUSG00000018341
AA Change: T168A

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: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cep162 T C 9: 87,103,143 (GRCm39) probably benign Het
Ces4a G T 8: 105,871,795 (GRCm39) M288I probably benign Het
Dusp19 G A 2: 80,461,126 (GRCm39) probably null Het
Eif4g1 C A 16: 20,505,504 (GRCm39) probably benign Het
Farp1 T G 14: 121,474,561 (GRCm39) I258S probably damaging Het
Galnt18 T A 7: 111,071,202 (GRCm39) Q589L probably damaging Het
Gimap7 T A 6: 48,700,667 (GRCm39) C84* probably null Het
Krba1 T C 6: 48,383,252 (GRCm39) L216S possibly damaging Het
Mki67 T C 7: 135,297,424 (GRCm39) K2537E probably damaging Het
Myo6 G T 9: 80,149,555 (GRCm39) probably benign Het
Nbea T A 3: 55,989,869 (GRCm39) N329I probably damaging Het
Ndufb11 T A X: 20,483,339 (GRCm39) Q54L possibly damaging Het
Nudt1 T C 5: 140,323,465 (GRCm39) F139S probably damaging Het
Rgn A T X: 20,423,756 (GRCm39) M118L probably benign Het
Syt12 C T 19: 4,497,873 (GRCm39) V370M probably damaging Het
Syt14 A T 1: 192,612,792 (GRCm39) N669K possibly damaging Het
Other mutations in Il12rb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2015-08-05