Incidental Mutation 'R5189:Il12rb1'
| ID |
405059 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il12rb1
|
| Ensembl Gene |
ENSMUSG00000000791 |
| Gene Name |
interleukin 12 receptor, beta 1 |
| Synonyms |
IL-12R[b], CD212 |
| MMRRC Submission |
042767-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R5189 (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 71263702 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 88
(T88A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148279
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000808]
[ENSMUST00000212146]
[ENSMUST00000212657]
|
| AlphaFold |
Q60837 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000808
AA Change: T88A
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000000808
Gene: ENSMUSG00000000791
AA Change: T88A
| 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 |
possibly damaging
Transcript: ENSMUST00000212146
AA Change: T67A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212251
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212657
AA Change: T88A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212826
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
C |
T |
12: 71,240,123 (GRCm39) |
T1311I |
possibly damaging |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| 4930505A04Rik |
T |
C |
11: 30,376,169 (GRCm39) |
T233A |
probably damaging |
Het |
| Ankar |
T |
C |
1: 72,697,573 (GRCm39) |
I859V |
probably benign |
Het |
| Cacnb2 |
G |
T |
2: 14,990,849 (GRCm39) |
A644S |
possibly damaging |
Het |
| Gatb |
T |
C |
3: 85,544,238 (GRCm39) |
V402A |
probably benign |
Het |
| Gpcpd1 |
T |
C |
2: 132,395,892 (GRCm39) |
K153R |
probably damaging |
Het |
| Hip1 |
A |
G |
5: 135,463,147 (GRCm39) |
L60S |
probably damaging |
Het |
| Hsf4 |
GCAGCACCGGGTCA |
G |
8: 105,998,060 (GRCm39) |
|
probably null |
Het |
| Hydin |
A |
T |
8: 111,139,843 (GRCm39) |
|
probably null |
Het |
| Igsf3 |
A |
T |
3: 101,338,843 (GRCm39) |
T386S |
possibly damaging |
Het |
| Kank1 |
T |
C |
19: 25,401,545 (GRCm39) |
S1051P |
probably damaging |
Het |
| Kap |
A |
G |
6: 133,828,879 (GRCm39) |
|
probably null |
Het |
| Ly96 |
A |
G |
1: 16,771,091 (GRCm39) |
E74G |
probably damaging |
Het |
| Map7d1 |
G |
T |
4: 126,136,097 (GRCm39) |
|
probably null |
Het |
| Megf6 |
G |
T |
4: 154,336,980 (GRCm39) |
R253L |
probably benign |
Het |
| Mex3b |
A |
G |
7: 82,518,459 (GRCm39) |
D258G |
probably damaging |
Het |
| Mpzl3 |
T |
C |
9: 44,973,408 (GRCm39) |
I49T |
possibly damaging |
Het |
| Myh15 |
C |
A |
16: 48,921,870 (GRCm39) |
T472N |
probably benign |
Het |
| Nacad |
A |
G |
11: 6,551,611 (GRCm39) |
S527P |
probably damaging |
Het |
| Nkx2-3 |
T |
G |
19: 43,601,147 (GRCm39) |
S70A |
probably benign |
Het |
| Nkx2-6 |
A |
T |
14: 69,409,342 (GRCm39) |
Q31L |
probably benign |
Het |
| Or6ae1 |
A |
G |
7: 139,742,632 (GRCm39) |
V77A |
probably damaging |
Het |
| Pcdha6 |
A |
T |
18: 37,101,844 (GRCm39) |
N346Y |
probably damaging |
Het |
| Pkd2 |
G |
A |
5: 104,607,785 (GRCm39) |
D95N |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,410,544 (GRCm39) |
T2684A |
probably damaging |
Het |
| Plin2 |
A |
G |
4: 86,575,383 (GRCm39) |
Y389H |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slc41a2 |
T |
C |
10: 83,149,275 (GRCm39) |
|
probably null |
Het |
| Smg6 |
A |
G |
11: 74,932,822 (GRCm39) |
T1038A |
probably damaging |
Het |
| Suds3 |
T |
C |
5: 117,238,664 (GRCm39) |
|
probably benign |
Het |
| Tbc1d8 |
T |
C |
1: 39,424,213 (GRCm39) |
H626R |
probably benign |
Het |
| Tmem260 |
T |
A |
14: 48,746,573 (GRCm39) |
H616Q |
probably benign |
Het |
| Trip10 |
A |
T |
17: 57,568,288 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ubr4 |
A |
G |
4: 139,137,960 (GRCm39) |
T1106A |
probably benign |
Het |
| Vmn1r84 |
A |
T |
7: 12,096,385 (GRCm39) |
S103T |
probably benign |
Het |
| Vps13a |
G |
T |
19: 16,662,679 (GRCm39) |
P1602Q |
probably damaging |
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 |
|
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 |
|
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'- CTGCAAGGGACAGACAGTCTAG -3'
(R):5'- ACTCACTCCAGTTGTACAGGTAC -3'
Sequencing Primer
(F):5'- CAAGGGACAGACAGTCTAGTTTCTC -3'
(R):5'- ACTGGGATATCTTCTGGGACTTC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation