Incidental Mutation 'R1577:Il12rb1'
ID 171228
Institutional Source Beutler Lab
Gene Symbol Il12rb1
Ensembl Gene ENSMUSG00000000791
Gene Name interleukin 12 receptor, beta 1
Synonyms IL-12R[b], CD212
MMRRC Submission 039615-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R1577 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 71261093-71274068 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 71263250 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 39 (D39G)
Ref Sequence ENSEMBL: ENSMUSP00000148314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000808] [ENSMUST00000212146] [ENSMUST00000212657]
AlphaFold Q60837
Predicted Effect probably damaging
Transcript: ENSMUST00000000808
AA Change: D60G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000000808
Gene: ENSMUSG00000000791
AA Change: D60G

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
FN3 467 550 9.4e-7 SMART
transmembrane domain 567 589 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211936
Predicted Effect probably damaging
Transcript: ENSMUST00000212146
AA Change: D39G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212251
Predicted Effect possibly damaging
Transcript: ENSMUST00000212657
AA Change: D60G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212826
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.6%
  • 20x: 87.3%
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 that belongs to the hemopoietin receptor superfamily. This protein binds to interleukine 12 (IL12) with a low affinity, and is thought to be a part of IL12 receptor complex. This protein forms a disulfide-linked oligomer, which is required for its IL12 binding activity. The coexpression of this and IL12RB2 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. Mutations in this gene impair the development of interleukin-17-producing T lymphocytes and result in increased susceptibility to mycobacterial and Salmonella infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased serum IFN-gamma levels in response to recombinant IL-12 or LPS treatment, and failure of ConA-activated splenocytes to proliferate or secrete IFN-gamma in response to IL-12. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 T C 1: 25,133,264 (GRCm39) N404S possibly damaging Het
Cep85 T C 4: 133,879,599 (GRCm39) E383G probably damaging Het
Chst4 A T 8: 110,756,476 (GRCm39) H379Q probably benign Het
Clca3b A T 3: 144,529,280 (GRCm39) I798N probably damaging Het
Cldnd1 T G 16: 58,553,016 (GRCm39) L159R possibly damaging Het
Cntnap3 T C 13: 64,906,104 (GRCm39) E834G probably damaging Het
Col2a1 C T 15: 97,877,083 (GRCm39) R1065Q probably damaging Het
Dchs1 T C 7: 105,415,162 (GRCm39) D674G probably damaging Het
Dntt A G 19: 41,044,224 (GRCm39) Y463C probably damaging Het
Egfr A G 11: 16,819,241 (GRCm39) E257G probably benign Het
Eif4b C T 15: 101,998,336 (GRCm39) R339* probably null Het
Fat1 C T 8: 45,476,420 (GRCm39) T1822M probably benign Het
Fgd3 T C 13: 49,435,413 (GRCm39) N282D probably damaging Het
Fmo4 T C 1: 162,631,269 (GRCm39) M233V possibly damaging Het
Gabbr2 T A 4: 46,684,319 (GRCm39) M652L probably benign Het
Gal3st2c G A 1: 93,934,650 (GRCm39) V13M probably damaging Het
Gapvd1 C T 2: 34,599,240 (GRCm39) G686D probably damaging Het
Gdap1l1 T G 2: 163,280,524 (GRCm39) L20R probably damaging Het
Gm5800 A T 14: 51,952,016 (GRCm39) M82K probably benign Het
Grm6 T A 11: 50,753,972 (GRCm39) C759S probably damaging Het
Hs3st1 A T 5: 39,772,393 (GRCm39) D83E probably benign Het
Ldhb C A 6: 142,438,324 (GRCm39) K244N possibly damaging Het
Lypd6 C T 2: 50,080,710 (GRCm39) R133* probably null Het
Med13l G A 5: 118,859,457 (GRCm39) G215S probably damaging Het
Ncoa1 T C 12: 4,345,196 (GRCm39) D606G probably damaging Het
Noc2l C T 4: 156,325,079 (GRCm39) T151M probably damaging Het
Or10q3 T C 19: 11,847,741 (GRCm39) T280A probably damaging Het
Or2ag2 T C 7: 106,485,217 (GRCm39) K269R probably benign Het
Or2at4 T C 7: 99,384,563 (GRCm39) L71P probably damaging Het
Or2t26 T A 11: 49,040,016 (GRCm39) C311S probably benign Het
Or5aq1b T C 2: 86,901,741 (GRCm39) T246A probably benign Het
Ppm1l G A 3: 69,460,403 (GRCm39) G327R probably damaging Het
Rapgef5 C T 12: 117,558,911 (GRCm39) A282V probably benign Het
Rnf139 T C 15: 58,771,367 (GRCm39) V464A probably damaging Het
Rprd2 C T 3: 95,672,047 (GRCm39) E1119K probably damaging Het
Sipa1l2 G A 8: 126,219,001 (GRCm39) T112I probably benign Het
Skint6 T C 4: 113,005,720 (GRCm39) T363A possibly damaging Het
Slc22a16 G T 10: 40,479,811 (GRCm39) E607* probably null Het
Slc24a2 T C 4: 86,909,648 (GRCm39) Y690C probably damaging Het
Slc25a23 T C 17: 57,354,306 (GRCm39) S115G probably benign Het
Slc4a3 T C 1: 75,527,535 (GRCm39) L168P probably damaging Het
Spats2 T A 15: 99,076,333 (GRCm39) I137N possibly damaging Het
Stard4 A T 18: 33,338,151 (GRCm39) V133D probably damaging Het
Syn3 A G 10: 86,284,728 (GRCm39) probably null Het
Tfpi A G 2: 84,263,447 (GRCm39) I305T probably damaging Het
Tmtc1 T A 6: 148,314,318 (GRCm39) probably null Het
Tpcn1 A C 5: 120,682,485 (GRCm39) W508G probably damaging Het
Ubr5 A T 15: 38,030,974 (GRCm39) N406K possibly damaging Het
Xrcc1 T A 7: 24,265,052 (GRCm39) L118* probably null Het
Zbtb5 T C 4: 44,995,129 (GRCm39) Y85C probably damaging Het
Zfand4 C A 6: 116,306,373 (GRCm39) Y735* probably null Het
Zfp180 G T 7: 23,805,333 (GRCm39) C584F probably damaging Het
Other mutations in Il12rb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02056:Il12rb1 APN 8 71,263,831 (GRCm39) nonsense probably null
IGL03065:Il12rb1 APN 8 71,273,202 (GRCm39) missense possibly damaging 0.51
P0026:Il12rb1 UTSW 8 71,265,185 (GRCm39) missense probably damaging 0.99
R0140:Il12rb1 UTSW 8 71,272,415 (GRCm39) splice site probably benign
R0763:Il12rb1 UTSW 8 71,265,934 (GRCm39) splice site probably benign
R1554:Il12rb1 UTSW 8 71,266,016 (GRCm39) critical splice donor site probably null
R1688:Il12rb1 UTSW 8 71,272,046 (GRCm39) missense probably damaging 1.00
R1918:Il12rb1 UTSW 8 71,266,324 (GRCm39) missense probably benign 0.04
R2848:Il12rb1 UTSW 8 71,268,446 (GRCm39) nonsense probably null
R3735:Il12rb1 UTSW 8 71,269,862 (GRCm39) missense probably damaging 0.99
R4791:Il12rb1 UTSW 8 71,266,012 (GRCm39) missense possibly damaging 0.83
R4857:Il12rb1 UTSW 8 71,263,232 (GRCm39) missense possibly damaging 0.94
R5189:Il12rb1 UTSW 8 71,263,702 (GRCm39) missense possibly damaging 0.66
R5493:Il12rb1 UTSW 8 71,262,483 (GRCm39) missense probably benign 0.00
R5590:Il12rb1 UTSW 8 71,266,411 (GRCm39) missense possibly damaging 0.83
R6484:Il12rb1 UTSW 8 71,262,348 (GRCm39) splice site probably null
R7213:Il12rb1 UTSW 8 71,269,097 (GRCm39) missense probably benign 0.00
R7301:Il12rb1 UTSW 8 71,266,343 (GRCm39) missense possibly damaging 0.73
R7388:Il12rb1 UTSW 8 71,263,271 (GRCm39) missense probably damaging 1.00
R7992:Il12rb1 UTSW 8 71,265,233 (GRCm39) missense possibly damaging 0.93
R8409:Il12rb1 UTSW 8 71,269,187 (GRCm39) missense possibly damaging 0.85
R9094:Il12rb1 UTSW 8 71,273,291 (GRCm39) missense possibly damaging 0.91
R9697:Il12rb1 UTSW 8 71,263,874 (GRCm39) nonsense probably null
R9698:Il12rb1 UTSW 8 71,263,848 (GRCm39) missense possibly damaging 0.90
R9774:Il12rb1 UTSW 8 71,272,040 (GRCm39) missense possibly damaging 0.85
X0061:Il12rb1 UTSW 8 71,267,279 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GCCAGTGTTTGGGACAATTACCAGC -3'
(R):5'- TCACCATGTCACCTGACACTCAGAG -3'

Sequencing Primer
(F):5'- TGAGGTAAAGATCAGCCTGTCTAC -3'
(R):5'- CTGACACTCAGAGATGGGC -3'
Posted On 2014-04-13