Incidental Mutation 'IGL00864:Il12rb2'
| ID |
12675 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Il12rb2
|
| Ensembl Gene |
ENSMUSG00000018341 |
| Gene Name |
interleukin 12 receptor, beta 2 |
| Synonyms |
A930027I18Rik, Ifnm, IL-12RB2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00864
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
67268302-67353172 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 67313738 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 6
(I6T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113267
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018485]
[ENSMUST00000117441]
|
| AlphaFold |
P97378 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018485
AA Change: I340T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000010605
Gene: ENSMUSG00000018341
AA Change: I340T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:Lep_receptor_Ig
|
28 |
120 |
6.4e-20 |
PFAM |
|
FN3
|
137 |
225 |
2.41e0 |
SMART |
|
FN3
|
240 |
320 |
3.4e-4 |
SMART |
|
Blast:FN3
|
340 |
434 |
2e-40 |
BLAST |
|
FN3
|
436 |
525 |
3.17e-4 |
SMART |
|
FN3
|
534 |
622 |
6.45e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117441
AA Change: I6T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113267
Gene: ENSMUSG00000018341
AA Change: I6T
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:FN3
|
6 |
100 |
1e-41 |
BLAST |
|
FN3
|
102 |
191 |
3.17e-4 |
SMART |
|
FN3
|
200 |
288 |
6.45e-5 |
SMART |
|
| 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 identified as a subunit of the interleukin 12 receptor complex. The coexpression of this and IL12RB1 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. The expression of this gene is up-regulated by interferon gamma in Th1 cells, and plays a role in Th1 cell differentiation. The up-regulation of this gene is found to be associated with a number of infectious diseases, such as Crohn's disease and leprosy, which is thought to contribute to the inflammatory response and host defense. Several transcript variants encoding different isoforms and non-protein coding transcripts have been found for this gene. [provided by RefSeq, Apr 2012]
PHENOTYPE: Mice homozygous for a knock-out allele have defects in IFN-gamma production and cytotoxic T lymphocyte and NK cytotoxicity, develop an autoimmune/lymphoproliferative disorder associated with higher susceptibility to spontaneous tumor formation, but show reduced in vivo growth of B16 melanoma tumors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
T |
C |
4: 103,092,895 (GRCm39) |
D142G |
probably damaging |
Het |
| Ap2b1 |
A |
C |
11: 83,223,984 (GRCm39) |
D195A |
probably damaging |
Het |
| Asxl3 |
T |
A |
18: 22,655,503 (GRCm39) |
I1171K |
probably benign |
Het |
| Atm |
T |
C |
9: 53,445,233 (GRCm39) |
S2G |
probably damaging |
Het |
| Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
| Ephx1 |
A |
G |
1: 180,818,016 (GRCm39) |
S356P |
probably damaging |
Het |
| H1f8 |
A |
G |
6: 115,925,587 (GRCm39) |
K128R |
probably damaging |
Het |
| Itm2b |
T |
C |
14: 73,600,575 (GRCm39) |
K242E |
probably damaging |
Het |
| Kcnq5 |
T |
A |
1: 21,575,987 (GRCm39) |
Q239L |
probably damaging |
Het |
| Lmbrd2 |
T |
C |
15: 9,175,297 (GRCm39) |
S403P |
probably damaging |
Het |
| Ola1 |
A |
T |
2: 72,987,241 (GRCm39) |
D130E |
probably benign |
Het |
| Opcml |
G |
A |
9: 28,812,886 (GRCm39) |
E193K |
probably damaging |
Het |
| Opcml |
A |
C |
9: 28,812,887 (GRCm39) |
E193A |
probably damaging |
Het |
| Rab44 |
T |
C |
17: 29,358,711 (GRCm39) |
S300P |
probably benign |
Het |
| Sergef |
C |
A |
7: 46,165,087 (GRCm39) |
|
probably null |
Het |
| Slc6a2 |
T |
C |
8: 93,722,622 (GRCm39) |
F540L |
probably benign |
Het |
| Spag6l |
A |
G |
16: 16,598,597 (GRCm39) |
V298A |
probably benign |
Het |
| Svep1 |
G |
T |
4: 58,068,533 (GRCm39) |
Y3084* |
probably null |
Het |
| Tbc1d4 |
T |
A |
14: 101,682,002 (GRCm39) |
D1235V |
probably benign |
Het |
| Tlr9 |
T |
C |
9: 106,102,206 (GRCm39) |
L499P |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,544,178 (GRCm39) |
S24609F |
probably damaging |
Het |
|
| Other mutations in Il12rb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00584:Il12rb2
|
APN |
6 |
67,334,676 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00767:Il12rb2
|
APN |
6 |
67,280,546 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL00835:Il12rb2
|
APN |
6 |
67,337,551 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00965:Il12rb2
|
APN |
6 |
67,337,561 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01161:Il12rb2
|
APN |
6 |
67,338,849 (GRCm39) |
splice site |
probably benign |
|
|
IGL01980:Il12rb2
|
APN |
6 |
67,337,519 (GRCm39) |
missense |
probably benign |
|
|
IGL02246:Il12rb2
|
APN |
6 |
67,285,940 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02807:Il12rb2
|
APN |
6 |
67,328,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0003:Il12rb2
|
UTSW |
6 |
67,293,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0022:Il12rb2
|
UTSW |
6 |
67,275,903 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0022:Il12rb2
|
UTSW |
6 |
67,275,903 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0079:Il12rb2
|
UTSW |
6 |
67,338,889 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0462:Il12rb2
|
UTSW |
6 |
67,280,594 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0709:Il12rb2
|
UTSW |
6 |
67,275,888 (GRCm39) |
splice site |
probably benign |
|
|
R0828:Il12rb2
|
UTSW |
6 |
67,333,691 (GRCm39) |
missense |
probably benign |
|
|
R1051:Il12rb2
|
UTSW |
6 |
67,333,719 (GRCm39) |
missense |
probably benign |
|
|
R1191:Il12rb2
|
UTSW |
6 |
67,275,200 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1446:Il12rb2
|
UTSW |
6 |
67,286,127 (GRCm39) |
missense |
probably benign |
|
|
R1559:Il12rb2
|
UTSW |
6 |
67,333,576 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1677:Il12rb2
|
UTSW |
6 |
67,280,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1689:Il12rb2
|
UTSW |
6 |
67,313,744 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1907:Il12rb2
|
UTSW |
6 |
67,272,270 (GRCm39) |
nonsense |
probably null |
|
|
R1952:Il12rb2
|
UTSW |
6 |
67,269,300 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2048:Il12rb2
|
UTSW |
6 |
67,337,529 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2074:Il12rb2
|
UTSW |
6 |
67,337,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2351:Il12rb2
|
UTSW |
6 |
67,338,928 (GRCm39) |
nonsense |
probably null |
|
|
R2358:Il12rb2
|
UTSW |
6 |
67,275,179 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2680:Il12rb2
|
UTSW |
6 |
67,331,789 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2920:Il12rb2
|
UTSW |
6 |
67,337,552 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3107:Il12rb2
|
UTSW |
6 |
67,337,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4420:Il12rb2
|
UTSW |
6 |
67,293,394 (GRCm39) |
splice site |
probably null |
|
|
R4838:Il12rb2
|
UTSW |
6 |
67,286,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5391:Il12rb2
|
UTSW |
6 |
67,269,404 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5532:Il12rb2
|
UTSW |
6 |
67,269,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5696:Il12rb2
|
UTSW |
6 |
67,272,262 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5704:Il12rb2
|
UTSW |
6 |
67,269,197 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5891:Il12rb2
|
UTSW |
6 |
67,337,674 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6482:Il12rb2
|
UTSW |
6 |
67,333,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6749:Il12rb2
|
UTSW |
6 |
67,338,950 (GRCm39) |
start gained |
probably benign |
|
|
R6813:Il12rb2
|
UTSW |
6 |
67,269,358 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6957:Il12rb2
|
UTSW |
6 |
67,269,636 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7312:Il12rb2
|
UTSW |
6 |
67,333,617 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7361:Il12rb2
|
UTSW |
6 |
67,280,450 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7813:Il12rb2
|
UTSW |
6 |
67,333,635 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7992:Il12rb2
|
UTSW |
6 |
67,328,311 (GRCm39) |
nonsense |
probably null |
|
|
R8422:Il12rb2
|
UTSW |
6 |
67,337,800 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8752:Il12rb2
|
UTSW |
6 |
67,328,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9648:Il12rb2
|
UTSW |
6 |
67,333,587 (GRCm39) |
missense |
probably benign |
0.13 |
|
| Posted On |
2012-12-06 |
Incidental Mutation