Incidental Mutation 'IGL02056:Il12rb1'
| ID |
185235 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Il12rb1
|
| Ensembl Gene |
ENSMUSG00000000791 |
| Gene Name |
interleukin 12 receptor, beta 1 |
| Synonyms |
IL-12R[b], CD212 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
IGL02056
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
71261093-71274068 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 71263831 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 131
(R131*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148279
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000808]
[ENSMUST00000212146]
[ENSMUST00000212657]
|
| AlphaFold |
Q60837 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000000808
AA Change: R131*
|
| SMART Domains |
Protein: ENSMUSP00000000808
Gene: ENSMUSG00000000791
AA Change: R131*
| Domain | Start | End | E-Value | Type |
|---|
|
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 null
Transcript: ENSMUST00000212146
AA Change: R110*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212251
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000212657
AA Change: R131*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212826
|
| 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 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg101 |
T |
C |
15: 101,188,218 (GRCm39) |
S108P |
probably damaging |
Het |
| BB014433 |
A |
T |
8: 15,092,435 (GRCm39) |
C139* |
probably null |
Het |
| Cacna1s |
A |
G |
1: 136,046,738 (GRCm39) |
N1808S |
probably benign |
Het |
| Ccdc148 |
A |
G |
2: 58,894,081 (GRCm39) |
|
probably benign |
Het |
| Dnah7a |
T |
G |
1: 53,543,501 (GRCm39) |
N2223T |
probably benign |
Het |
| Fgl2 |
T |
A |
5: 21,580,543 (GRCm39) |
I295K |
probably damaging |
Het |
| Foxj3 |
T |
C |
4: 119,442,954 (GRCm39) |
I126T |
probably damaging |
Het |
| Gm4540 |
T |
A |
3: 105,942,056 (GRCm39) |
|
probably benign |
Het |
| Hps5 |
T |
G |
7: 46,437,606 (GRCm39) |
K156N |
probably damaging |
Het |
| Hsp90aa1 |
T |
C |
12: 110,660,449 (GRCm39) |
|
probably benign |
Het |
| Itgb2l |
T |
C |
16: 96,228,889 (GRCm39) |
E438G |
probably damaging |
Het |
| Kplce |
T |
A |
3: 92,776,200 (GRCm39) |
Q161L |
probably benign |
Het |
| Nbeal2 |
A |
T |
9: 110,456,392 (GRCm39) |
L2379Q |
probably benign |
Het |
| Neurl4 |
T |
C |
11: 69,796,616 (GRCm39) |
V481A |
probably damaging |
Het |
| Nos1ap |
A |
G |
1: 170,146,192 (GRCm39) |
F454S |
possibly damaging |
Het |
| Pik3r5 |
G |
T |
11: 68,381,681 (GRCm39) |
G242C |
possibly damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,358,010 (GRCm39) |
N834S |
probably benign |
Het |
| Prkar2b |
A |
G |
12: 32,025,909 (GRCm39) |
|
probably benign |
Het |
| Pusl1 |
T |
C |
4: 155,975,029 (GRCm39) |
T191A |
probably benign |
Het |
| Rasal2 |
A |
G |
1: 157,126,831 (GRCm39) |
V51A |
probably damaging |
Het |
| Rsc1a1 |
T |
A |
4: 141,412,796 (GRCm39) |
I39F |
probably benign |
Het |
| Slc2a3 |
G |
A |
6: 122,712,437 (GRCm39) |
P269L |
probably damaging |
Het |
| Sntb1 |
C |
T |
15: 55,511,435 (GRCm39) |
G383D |
possibly damaging |
Het |
| Washc5 |
T |
C |
15: 59,222,185 (GRCm39) |
T547A |
possibly damaging |
Het |
| Zfr |
T |
C |
15: 12,154,533 (GRCm39) |
V572A |
probably damaging |
Het |
| Zmym6 |
T |
A |
4: 126,997,207 (GRCm39) |
N275K |
probably damaging |
Het |
|
| Other mutations in Il12rb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R1577:Il12rb1
|
UTSW |
8 |
71,263,250 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation