Incidental Mutation 'P0026:Il12rb1'
| ID |
8084 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il12rb1
|
| Ensembl Gene |
ENSMUSG00000000791 |
| Gene Name |
interleukin 12 receptor, beta 1 |
| Synonyms |
IL-12R[b], CD212 |
| MMRRC Submission |
038279-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
P0026 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
71261093-71274068 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 71265185 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 167
(D167G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148279
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000808]
[ENSMUST00000212146]
[ENSMUST00000212657]
|
| AlphaFold |
Q60837 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000808
AA Change: D167G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000000808
Gene: ENSMUSG00000000791
AA Change: D167G
| 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 benign
Transcript: ENSMUST00000212146
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212251
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212657
AA Change: D167G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212826
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 85.6%
- 3x: 78.9%
- 10x: 59.5%
- 20x: 38.1%
|
| Validation Efficiency |
97% (63/65) |
| 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 |
|---|
| Abi2 |
A |
G |
1: 60,492,882 (GRCm39) |
N182D |
probably benign |
Het |
| Acad10 |
T |
C |
5: 121,775,415 (GRCm39) |
Y429C |
probably damaging |
Het |
| Aifm3 |
A |
T |
16: 17,324,981 (GRCm39) |
|
probably benign |
Het |
| Bud13 |
A |
G |
9: 46,199,656 (GRCm39) |
H339R |
probably benign |
Het |
| Cpa1 |
T |
A |
6: 30,640,905 (GRCm39) |
M132K |
probably damaging |
Het |
| Dapk1 |
T |
A |
13: 60,865,963 (GRCm39) |
|
probably benign |
Het |
| Dchs1 |
A |
T |
7: 105,407,612 (GRCm39) |
N2073K |
probably damaging |
Het |
| Dnah2 |
A |
T |
11: 69,355,773 (GRCm39) |
N2227K |
probably damaging |
Het |
| Dnpep |
C |
T |
1: 75,285,329 (GRCm39) |
V468I |
probably benign |
Het |
| Elf3 |
A |
G |
1: 135,183,711 (GRCm39) |
|
probably null |
Het |
| Fam124a |
T |
G |
14: 62,843,571 (GRCm39) |
L360V |
probably damaging |
Het |
| Fam20a |
A |
T |
11: 109,566,667 (GRCm39) |
|
probably null |
Het |
| Fermt3 |
A |
G |
19: 6,991,792 (GRCm39) |
S140P |
probably damaging |
Het |
| Gm10440 |
T |
C |
5: 54,513,511 (GRCm39) |
|
noncoding transcript |
Het |
| Ints8 |
T |
A |
4: 11,225,788 (GRCm39) |
K590* |
probably null |
Het |
| Kcnu1 |
T |
C |
8: 26,382,150 (GRCm39) |
F500S |
probably damaging |
Het |
| Mrm3 |
T |
C |
11: 76,138,326 (GRCm39) |
V238A |
probably damaging |
Het |
| Rap1gap2 |
A |
G |
11: 74,458,036 (GRCm39) |
|
probably benign |
Het |
| Rusc2 |
T |
A |
4: 43,415,840 (GRCm39) |
V382E |
possibly damaging |
Het |
| Slc9a5 |
A |
G |
8: 106,081,923 (GRCm39) |
N216S |
probably damaging |
Het |
| Snx7 |
A |
T |
3: 117,633,672 (GRCm39) |
F63I |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 75,926,994 (GRCm39) |
|
probably benign |
Het |
| Tenm4 |
T |
C |
7: 96,523,734 (GRCm39) |
Y1751H |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 72,824,931 (GRCm39) |
P366S |
probably damaging |
Het |
| Trim17 |
A |
G |
11: 58,862,084 (GRCm39) |
D372G |
possibly damaging |
Het |
| Zfp354a |
G |
A |
11: 50,952,325 (GRCm39) |
G85R |
probably null |
Het |
|
| Other mutations in Il12rb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
2012-11-20 |
Incidental Mutation