Incidental Mutation 'R7312:Il12rb2'
| ID |
567663 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il12rb2
|
| Ensembl Gene |
ENSMUSG00000018341 |
| Gene Name |
interleukin 12 receptor, beta 2 |
| Synonyms |
A930027I18Rik, Ifnm, IL-12RB2 |
| MMRRC Submission |
045410-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7312 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
67268302-67353172 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 67333617 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 221
(D221N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000010605
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018485]
|
| AlphaFold |
P97378 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018485
AA Change: D221N
PolyPhen 2
Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000010605
Gene: ENSMUSG00000018341
AA Change: D221N
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (60/60) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
T |
C |
3: 89,969,021 (GRCm39) |
S215P |
probably benign |
Het |
| Ano2 |
C |
T |
6: 126,016,460 (GRCm39) |
Q998* |
probably null |
Het |
| Atg9a |
A |
T |
1: 75,164,736 (GRCm39) |
V76E |
probably damaging |
Het |
| Cacna1c |
T |
C |
6: 119,034,172 (GRCm39) |
I118M |
|
Het |
| Cacna1g |
T |
A |
11: 94,323,383 (GRCm39) |
I1274F |
probably damaging |
Het |
| Cd300lg |
C |
T |
11: 101,937,767 (GRCm39) |
A199V |
probably benign |
Het |
| Cfap61 |
C |
T |
2: 145,887,390 (GRCm39) |
R612* |
probably null |
Het |
| Cpeb4 |
A |
T |
11: 31,881,417 (GRCm39) |
Y692F |
probably damaging |
Het |
| Dcun1d1 |
A |
G |
3: 35,951,940 (GRCm39) |
|
probably null |
Het |
| Dennd2d |
T |
A |
3: 106,398,579 (GRCm39) |
M188K |
probably benign |
Het |
| Dmgdh |
A |
G |
13: 93,845,354 (GRCm39) |
|
probably null |
Het |
| Efl1 |
T |
A |
7: 82,330,652 (GRCm39) |
M275K |
probably benign |
Het |
| Erp29 |
G |
T |
5: 121,583,392 (GRCm39) |
A178D |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,308,594 (GRCm39) |
N156S |
possibly damaging |
Het |
| Frrs1 |
C |
T |
3: 116,675,426 (GRCm39) |
T118I |
probably damaging |
Het |
| Frrs1l |
A |
G |
4: 56,968,230 (GRCm39) |
W181R |
probably benign |
Het |
| Gprc5b |
C |
A |
7: 118,583,482 (GRCm39) |
W129L |
probably damaging |
Het |
| Hoxc9 |
A |
G |
15: 102,890,593 (GRCm39) |
H170R |
probably benign |
Het |
| Lmo1 |
T |
C |
7: 108,742,819 (GRCm39) |
N28S |
probably benign |
Het |
| Lrrfip2 |
T |
A |
9: 111,006,525 (GRCm39) |
|
probably null |
Het |
| Macf1 |
A |
T |
4: 123,400,130 (GRCm39) |
F722I |
probably damaging |
Het |
| Mical1 |
T |
C |
10: 41,355,772 (GRCm39) |
|
probably null |
Het |
| Mtcl3 |
A |
G |
10: 29,073,240 (GRCm39) |
Y844C |
probably damaging |
Het |
| Mtmr11 |
C |
T |
3: 96,071,855 (GRCm39) |
T223M |
possibly damaging |
Het |
| Mup21 |
A |
G |
4: 62,068,468 (GRCm39) |
V66A |
probably benign |
Het |
| Nav2 |
C |
A |
7: 49,111,672 (GRCm39) |
A726D |
possibly damaging |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Nudt21 |
A |
T |
8: 94,746,227 (GRCm39) |
V157D |
probably benign |
Het |
| Numa1 |
T |
C |
7: 101,639,806 (GRCm39) |
I52T |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 58,946,442 (GRCm39) |
D4421G |
probably benign |
Het |
| Oog3 |
T |
C |
4: 143,886,801 (GRCm39) |
I106M |
probably benign |
Het |
| Or10g9 |
A |
T |
9: 39,912,106 (GRCm39) |
V139E |
probably benign |
Het |
| Or2g25 |
T |
C |
17: 37,970,403 (GRCm39) |
T274A |
possibly damaging |
Het |
| Or2z9 |
T |
C |
8: 72,853,793 (GRCm39) |
L63P |
probably damaging |
Het |
| Or51f1 |
T |
A |
7: 102,505,706 (GRCm39) |
Y261F |
probably damaging |
Het |
| Or5w20 |
T |
G |
2: 87,726,755 (GRCm39) |
C71G |
possibly damaging |
Het |
| Orai2 |
T |
A |
5: 136,179,437 (GRCm39) |
I199F |
probably damaging |
Het |
| P2rx5 |
C |
A |
11: 73,055,692 (GRCm39) |
L50M |
probably damaging |
Het |
| Pdia2 |
T |
C |
17: 26,416,634 (GRCm39) |
E215G |
possibly damaging |
Het |
| Pds5a |
A |
T |
5: 65,823,570 (GRCm39) |
S74T |
possibly damaging |
Het |
| Phlpp2 |
A |
G |
8: 110,666,785 (GRCm39) |
S1105G |
probably damaging |
Het |
| Pi4kb |
T |
A |
3: 94,891,888 (GRCm39) |
D189E |
probably benign |
Het |
| Pigw |
G |
A |
11: 84,768,585 (GRCm39) |
T248M |
probably damaging |
Het |
| Pnlip |
T |
A |
19: 58,670,134 (GRCm39) |
V458D |
probably damaging |
Het |
| Ppm1l |
G |
A |
3: 69,225,044 (GRCm39) |
V49I |
probably benign |
Het |
| Prl3b1 |
T |
A |
13: 27,426,473 (GRCm39) |
M1K |
probably null |
Het |
| Rad1 |
T |
A |
15: 10,493,367 (GRCm39) |
C265S |
probably benign |
Het |
| Rnaset2b |
C |
T |
17: 7,265,427 (GRCm39) |
S237F |
probably benign |
Het |
| Rtl1 |
C |
T |
12: 109,561,672 (GRCm39) |
A56T |
unknown |
Het |
| S1pr2 |
T |
C |
9: 20,879,238 (GRCm39) |
I197V |
probably benign |
Het |
| Smyd4 |
A |
G |
11: 75,281,082 (GRCm39) |
Q185R |
probably benign |
Het |
| Sox5 |
T |
A |
6: 144,100,759 (GRCm39) |
T77S |
probably benign |
Het |
| Sox7 |
A |
G |
14: 64,185,291 (GRCm39) |
Y109C |
probably damaging |
Het |
| Styxl2 |
C |
T |
1: 165,954,676 (GRCm39) |
V25I |
probably damaging |
Het |
| Tln1 |
G |
A |
4: 43,545,922 (GRCm39) |
R898C |
probably damaging |
Het |
| Tmprss11b |
T |
A |
5: 86,812,173 (GRCm39) |
E158V |
probably damaging |
Het |
| Tnpo3 |
C |
A |
6: 29,562,875 (GRCm39) |
R614L |
possibly damaging |
Het |
| Vmn2r100 |
T |
A |
17: 19,742,296 (GRCm39) |
D223E |
probably benign |
Het |
| Zc3h12d |
A |
T |
10: 7,743,345 (GRCm39) |
M372L |
probably benign |
Het |
| Zfp28 |
G |
T |
7: 6,386,593 (GRCm39) |
|
probably benign |
Het |
| Zfp963 |
A |
T |
8: 70,195,759 (GRCm39) |
H231Q |
probably damaging |
Het |
| Zscan4b |
A |
G |
7: 10,634,867 (GRCm39) |
S459P |
probably benign |
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 |
|
IGL00864:Il12rb2
|
APN |
6 |
67,313,738 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCCAGCCCTTCTTTTACATG -3'
(R):5'- ACTGCTAAACACAGTTTTGTTTGGG -3'
Sequencing Primer
(F):5'- AATAGCCTTGTACTTTGTCTGTAGC -3'
(R):5'- GTTACAGGTTAAGTGGACCAAAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation