Incidental Mutation 'R6749:Il12rb2'
| ID |
532883 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il12rb2
|
| Ensembl Gene |
ENSMUSG00000018341 |
| Gene Name |
interleukin 12 receptor, beta 2 |
| Synonyms |
A930027I18Rik, Ifnm, IL-12RB2 |
| MMRRC Submission |
044866-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6749 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
67268302-67353172 bp(-) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
G to T
at 67338950 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000010605
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018485]
|
| AlphaFold |
P97378 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018485
|
| SMART Domains |
Protein: ENSMUSP00000010605
Gene: ENSMUSG00000018341
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (47/47) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
A |
G |
11: 119,901,600 (GRCm39) |
V875A |
possibly damaging |
Het |
| Arhgef15 |
A |
T |
11: 68,845,383 (GRCm39) |
F156L |
probably damaging |
Het |
| Bdh2 |
T |
A |
3: 135,006,452 (GRCm39) |
S184T |
probably damaging |
Het |
| Bmp5 |
A |
T |
9: 75,683,375 (GRCm39) |
M1L |
probably benign |
Het |
| Cacfd1 |
T |
C |
2: 26,908,467 (GRCm39) |
Y134H |
probably damaging |
Het |
| Camk1 |
G |
A |
6: 113,311,486 (GRCm39) |
P340L |
probably benign |
Het |
| Cdc14a |
T |
C |
3: 116,090,807 (GRCm39) |
H424R |
possibly damaging |
Het |
| Cntfr |
T |
A |
4: 41,663,232 (GRCm39) |
T192S |
possibly damaging |
Het |
| Erbin |
G |
T |
13: 103,970,885 (GRCm39) |
S910R |
probably damaging |
Het |
| Esrp1 |
A |
T |
4: 11,357,519 (GRCm39) |
V366E |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,808,738 (GRCm39) |
S1686T |
possibly damaging |
Het |
| Gata5 |
A |
G |
2: 179,976,143 (GRCm39) |
L7S |
probably damaging |
Het |
| Hgf |
T |
A |
5: 16,818,640 (GRCm39) |
|
probably null |
Het |
| Ift140 |
A |
G |
17: 25,317,890 (GRCm39) |
E1458G |
probably damaging |
Het |
| Ift57 |
G |
A |
16: 49,581,347 (GRCm39) |
G209R |
probably benign |
Het |
| Krt78 |
G |
A |
15: 101,859,358 (GRCm39) |
R280C |
probably damaging |
Het |
| Lipc |
A |
G |
9: 70,730,668 (GRCm39) |
I88T |
probably damaging |
Het |
| Lrmda |
G |
T |
14: 22,077,344 (GRCm39) |
R27L |
probably benign |
Het |
| Lrrc37a |
T |
G |
11: 103,392,923 (GRCm39) |
E834A |
probably benign |
Het |
| Mmachc |
C |
A |
4: 116,561,738 (GRCm39) |
R132L |
probably damaging |
Het |
| Myo10 |
T |
C |
15: 25,714,196 (GRCm39) |
Y88H |
probably damaging |
Het |
| Myo5b |
G |
A |
18: 74,834,574 (GRCm39) |
R878Q |
possibly damaging |
Het |
| Or2y1f |
A |
G |
11: 49,184,877 (GRCm39) |
H243R |
probably damaging |
Het |
| Padi3 |
T |
C |
4: 140,523,164 (GRCm39) |
T289A |
possibly damaging |
Het |
| Pcdhgb4 |
G |
T |
18: 37,854,282 (GRCm39) |
A226S |
possibly damaging |
Het |
| Pde4c |
T |
C |
8: 71,198,659 (GRCm39) |
V167A |
probably damaging |
Het |
| Pigr |
A |
G |
1: 130,774,285 (GRCm39) |
T422A |
probably benign |
Het |
| Pmp2 |
T |
C |
3: 10,247,542 (GRCm39) |
Y49C |
probably benign |
Het |
| Prpf39 |
A |
G |
12: 65,103,048 (GRCm39) |
I441V |
possibly damaging |
Het |
| Ptprs |
A |
G |
17: 56,744,884 (GRCm39) |
V284A |
probably damaging |
Het |
| Rsad1 |
T |
C |
11: 94,434,166 (GRCm39) |
E354G |
probably damaging |
Het |
| Sema4b |
T |
A |
7: 79,869,949 (GRCm39) |
D412E |
possibly damaging |
Het |
| Siglecg |
A |
G |
7: 43,058,403 (GRCm39) |
I97V |
probably benign |
Het |
| Slc4a3 |
C |
T |
1: 75,531,182 (GRCm39) |
R792* |
probably null |
Het |
| Slc6a20a |
A |
G |
9: 123,466,135 (GRCm39) |
C569R |
probably damaging |
Het |
| Spata19 |
T |
C |
9: 27,309,276 (GRCm39) |
V59A |
probably benign |
Het |
| Sult2a3 |
T |
A |
7: 13,816,629 (GRCm39) |
Y183F |
probably benign |
Het |
| Tedc1 |
C |
T |
12: 113,121,702 (GRCm39) |
T194M |
probably damaging |
Het |
| Tektl1 |
A |
C |
10: 78,588,672 (GRCm39) |
M46R |
possibly damaging |
Het |
| Tmem63c |
T |
A |
12: 87,122,439 (GRCm39) |
N412K |
probably damaging |
Het |
| Trav5-1 |
T |
C |
14: 52,860,402 (GRCm39) |
I69T |
possibly damaging |
Het |
| Trim68 |
T |
C |
7: 102,327,990 (GRCm39) |
D321G |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,695,600 (GRCm39) |
|
probably benign |
Het |
| Vars2 |
A |
G |
17: 35,977,605 (GRCm39) |
V109A |
probably damaging |
Het |
| Vmn2r96 |
C |
T |
17: 18,818,352 (GRCm39) |
P643L |
probably damaging |
Het |
| Zfpm2 |
G |
T |
15: 40,818,104 (GRCm39) |
V146F |
possibly damaging |
Het |
| Znfx1 |
T |
C |
2: 166,898,519 (GRCm39) |
K135R |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGCAGCCATTATGCTTCATG -3'
(R):5'- CCCAAGATGGTTCACTGAGATGG -3'
Sequencing Primer
(F):5'- AGCCATTATGCTTCATGTTTCTTAGG -3'
(R):5'- GTTCACTGAGATGGGAGGC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation