Incidental Mutation 'R1554:Il12rb1'
ID170153
Institutional Source Beutler Lab
Gene Symbol Il12rb1
Ensembl Gene ENSMUSG00000000791
Gene Nameinterleukin 12 receptor, beta 1
SynonymsIL-12R[b], CD212
MMRRC Submission 039593-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.131) question?
Stock #R1554 (G1)
Quality Score225
Status Not validated
Chromosome8
Chromosomal Location70808449-70821424 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 70813372 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148279 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000808] [ENSMUST00000212146] [ENSMUST00000212657] [ENSMUST00000212657]
Predicted Effect probably null
Transcript: ENSMUST00000000808
SMART Domains Protein: ENSMUSP00000000808
Gene: ENSMUSG00000000791

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 benign
Transcript: ENSMUST00000212146
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212251
Predicted Effect probably null
Transcript: ENSMUST00000212657
Predicted Effect probably null
Transcript: ENSMUST00000212657
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212826
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 89.0%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf T A 19: 31,908,902 D70E possibly damaging Het
Adamts7 A T 9: 90,173,650 D152V probably damaging Het
Api5 T C 2: 94,425,643 D233G probably benign Het
Btaf1 A G 19: 36,996,598 D1390G probably benign Het
Cep135 G A 5: 76,634,213 W893* probably null Het
Cmtm6 T A 9: 114,746,482 V153D possibly damaging Het
Dnah11 C T 12: 118,082,499 V1735I possibly damaging Het
Dnm1l T C 16: 16,341,426 N104S probably benign Het
Dpyd A T 3: 119,065,046 probably null Het
Dtx1 T C 5: 120,683,321 K387R probably damaging Het
Ercc4 A G 16: 13,147,622 D706G probably damaging Het
Fam208b A G 13: 3,576,374 V1192A possibly damaging Het
Fat2 T C 11: 55,253,664 N4128S probably benign Het
Gm42669 T A 5: 107,507,787 C639S possibly damaging Het
Grk3 T A 5: 112,969,269 I89L possibly damaging Het
Grm8 A T 6: 28,125,853 D91E probably benign Het
Havcr1 C A 11: 46,752,507 H85N probably benign Het
Kif3a A G 11: 53,598,327 K117E probably damaging Het
Kitl T A 10: 100,087,438 F15L probably benign Het
Ktn1 T G 14: 47,695,507 L706R probably damaging Het
Lipg T C 18: 74,948,047 Y321C probably damaging Het
Mapk8ip3 T C 17: 24,903,059 D710G probably benign Het
Mb21d1 A T 9: 78,435,556 S321R probably damaging Het
Mchr1 A G 15: 81,235,820 N16S probably benign Het
Myadml2 A T 11: 120,647,727 L94* probably null Het
Npr3 C A 15: 11,848,563 M439I probably benign Het
Obscn A G 11: 59,003,648 I6677T unknown Het
Ogn A C 13: 49,621,044 D221A probably benign Het
Olfr889 T C 9: 38,115,934 I46T probably benign Het
Pard3b C A 1: 62,637,894 Q1195K probably damaging Het
Pcsk4 T C 10: 80,321,951 E608G probably benign Het
Pdlim1 T C 19: 40,223,072 D259G probably benign Het
Per1 T C 11: 69,103,627 S526P probably damaging Het
Pfkfb2 A G 1: 130,706,472 V156A probably damaging Het
Ppp4r3a A T 12: 101,055,822 D307E probably damaging Het
Rims4 T C 2: 163,879,122 S70G probably damaging Het
Rnf213 T C 11: 119,441,839 F2625L probably benign Het
Sap130 T C 18: 31,666,472 L334P probably damaging Het
Slc16a10 T C 10: 40,076,800 I233V probably benign Het
Slc16a7 A C 10: 125,230,922 F283V possibly damaging Het
Slc25a24 T C 3: 109,136,270 M81T probably benign Het
Slc30a9 A G 5: 67,326,921 R134G probably damaging Het
Slc35d3 G T 10: 19,850,737 L96M probably damaging Het
Slc7a11 C T 3: 50,381,896 G333D probably damaging Het
Stam T C 2: 14,141,828 S446P probably benign Het
Stk38 T A 17: 28,979,232 N248I possibly damaging Het
Tle6 A C 10: 81,595,385 S221A probably benign Het
Tmprss11b G A 5: 86,661,631 T334I probably benign Het
Tmprss11c T A 5: 86,289,260 M1L possibly damaging Het
Tpm1 T C 9: 67,023,429 H262R probably benign Het
Tspan33 T C 6: 29,711,082 S118P possibly damaging Het
Tyk2 A G 9: 21,107,922 V1068A probably damaging Het
Ubr2 T C 17: 46,972,951 I591V probably benign Het
Utp20 A T 10: 88,764,737 Y38* probably null Het
Vmn1r217 A T 13: 23,114,294 I146N possibly damaging Het
Zfp608 T C 18: 54,898,054 Y938C probably damaging Het
Other mutations in Il12rb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02056:Il12rb1 APN 8 70811187 nonsense probably null
IGL03065:Il12rb1 APN 8 70820558 missense possibly damaging 0.51
P0026:Il12rb1 UTSW 8 70812541 missense probably damaging 0.99
R0140:Il12rb1 UTSW 8 70819771 splice site probably benign
R0763:Il12rb1 UTSW 8 70813290 splice site probably benign
R1577:Il12rb1 UTSW 8 70810606 missense probably damaging 0.99
R1688:Il12rb1 UTSW 8 70819402 missense probably damaging 1.00
R1918:Il12rb1 UTSW 8 70813680 missense probably benign 0.04
R2848:Il12rb1 UTSW 8 70815802 nonsense probably null
R3735:Il12rb1 UTSW 8 70817218 missense probably damaging 0.99
R4791:Il12rb1 UTSW 8 70813368 missense possibly damaging 0.83
R4857:Il12rb1 UTSW 8 70810588 missense possibly damaging 0.94
R5189:Il12rb1 UTSW 8 70811058 missense possibly damaging 0.66
R5493:Il12rb1 UTSW 8 70809839 missense probably benign 0.00
R5590:Il12rb1 UTSW 8 70813767 missense possibly damaging 0.83
R6484:Il12rb1 UTSW 8 70809704 unclassified probably null
R7213:Il12rb1 UTSW 8 70816453 missense probably benign 0.00
R7301:Il12rb1 UTSW 8 70813699 missense possibly damaging 0.73
R7388:Il12rb1 UTSW 8 70810627 missense probably damaging 1.00
X0061:Il12rb1 UTSW 8 70814635 missense probably benign
Predicted Primers PCR Primer
(F):5'- TCAGTTGCACAGAGACTCAGGTCG -3'
(R):5'- TGTAGATCCAGGTCACCCAACCAG -3'

Sequencing Primer
(F):5'- CTCAGGTCGGAAAAGCAAAATG -3'
(R):5'- AACCAGTCCTTTGTGAACTCTG -3'
Posted On2014-04-13