Incidental Mutation 'R5391:Il12rb2'
ID |
425846 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Il12rb2
|
Ensembl Gene |
ENSMUSG00000018341 |
Gene Name |
interleukin 12 receptor, beta 2 |
Synonyms |
A930027I18Rik, Ifnm, IL-12RB2 |
MMRRC Submission |
042963-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5391 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
67268302-67353172 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 67269404 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 803
(N803S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000010605
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018485]
[ENSMUST00000042990]
[ENSMUST00000117441]
|
AlphaFold |
P97378 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000018485
AA Change: N803S
PolyPhen 2
Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000010605 Gene: ENSMUSG00000018341 AA Change: N803S
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: ENSMUST00000042990
|
SMART Domains |
Protein: ENSMUSP00000039110 Gene: ENSMUSG00000036371
Domain | Start | End | E-Value | Type |
Pfam:IHABP4_N
|
5 |
152 |
7.4e-42 |
PFAM |
HABP4_PAI-RBP1
|
189 |
313 |
2.73e-44 |
SMART |
low complexity region
|
362 |
384 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117441
AA Change: N469S
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000113267 Gene: ENSMUSG00000018341 AA Change: N469S
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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
G |
A |
5: 8,855,481 (GRCm39) |
M38I |
probably null |
Het |
Actl7a |
A |
G |
4: 56,743,661 (GRCm39) |
T63A |
probably benign |
Het |
Amfr |
G |
A |
8: 94,702,676 (GRCm39) |
P497S |
probably damaging |
Het |
Ankrd33b |
T |
C |
15: 31,325,352 (GRCm39) |
I122V |
probably damaging |
Het |
Asap1 |
G |
T |
15: 63,965,901 (GRCm39) |
T1011K |
possibly damaging |
Het |
Cbfa2t3 |
G |
A |
8: 123,360,134 (GRCm39) |
R506* |
probably null |
Het |
Ccs |
C |
G |
19: 4,883,510 (GRCm39) |
C96S |
probably benign |
Het |
Cpt1a |
A |
G |
19: 3,399,260 (GRCm39) |
D20G |
probably damaging |
Het |
Ctdspl2 |
G |
A |
2: 121,834,629 (GRCm39) |
|
probably null |
Het |
Dhx57 |
T |
C |
17: 80,582,510 (GRCm39) |
Y365C |
probably damaging |
Het |
Dnah3 |
C |
T |
7: 119,689,299 (GRCm39) |
M38I |
probably benign |
Het |
Dnajc6 |
T |
C |
4: 101,485,355 (GRCm39) |
|
probably null |
Het |
Elac2 |
A |
G |
11: 64,885,120 (GRCm39) |
S450G |
probably benign |
Het |
Gdf9 |
T |
C |
11: 53,324,624 (GRCm39) |
V131A |
probably benign |
Het |
Itgb4 |
T |
A |
11: 115,875,894 (GRCm39) |
M477K |
probably benign |
Het |
Itgb8 |
A |
C |
12: 119,134,476 (GRCm39) |
C530W |
probably damaging |
Het |
Krt78 |
C |
A |
15: 101,860,263 (GRCm39) |
E218* |
probably null |
Het |
Lpar1 |
A |
G |
4: 58,486,902 (GRCm39) |
L105P |
probably damaging |
Het |
Megf8 |
G |
A |
7: 25,039,714 (GRCm39) |
G936D |
possibly damaging |
Het |
Mov10 |
G |
A |
3: 104,709,849 (GRCm39) |
H346Y |
probably benign |
Het |
Nfia |
A |
G |
4: 97,671,538 (GRCm39) |
I83V |
probably damaging |
Het |
Or5b101 |
G |
T |
19: 13,005,150 (GRCm39) |
A181E |
probably damaging |
Het |
Or6d15 |
T |
C |
6: 116,559,808 (GRCm39) |
Y33C |
probably damaging |
Het |
Pcdhgb6 |
T |
G |
18: 37,875,640 (GRCm39) |
I116S |
probably damaging |
Het |
Pdcd6ip |
G |
T |
9: 113,520,586 (GRCm39) |
Q133K |
probably damaging |
Het |
Phkb |
A |
G |
8: 86,744,097 (GRCm39) |
D582G |
probably damaging |
Het |
Pik3cd |
A |
T |
4: 149,743,588 (GRCm39) |
V207E |
probably damaging |
Het |
Ptov1 |
T |
C |
7: 44,513,008 (GRCm39) |
Q397R |
probably damaging |
Het |
Rangap1 |
A |
G |
15: 81,590,647 (GRCm39) |
F482L |
probably benign |
Het |
Rapgef1 |
T |
A |
2: 29,627,977 (GRCm39) |
N1052K |
probably damaging |
Het |
Rasl12 |
G |
T |
9: 65,305,949 (GRCm39) |
A35S |
probably damaging |
Het |
Rnf169 |
A |
T |
7: 99,584,367 (GRCm39) |
|
probably null |
Het |
Sec16a |
A |
G |
2: 26,330,044 (GRCm39) |
V657A |
possibly damaging |
Het |
Sin3a |
G |
A |
9: 57,012,957 (GRCm39) |
R612H |
probably damaging |
Het |
Six6 |
T |
A |
12: 72,988,475 (GRCm39) |
L216* |
probably null |
Het |
Tbce |
T |
C |
13: 14,180,550 (GRCm39) |
I293M |
probably damaging |
Het |
Tektl1 |
G |
A |
10: 78,588,688 (GRCm39) |
Q41* |
probably null |
Het |
Tmem176a |
T |
C |
6: 48,821,630 (GRCm39) |
L204P |
probably damaging |
Het |
Tmem87a |
A |
G |
2: 120,193,358 (GRCm39) |
|
probably null |
Het |
Tns1 |
A |
T |
1: 74,029,568 (GRCm39) |
|
probably null |
Het |
Usf3 |
T |
A |
16: 44,037,826 (GRCm39) |
S769T |
probably benign |
Het |
Vmn2r82 |
A |
G |
10: 79,192,491 (GRCm39) |
T23A |
probably null |
Het |
Vps26a |
A |
G |
10: 62,292,526 (GRCm39) |
*328Q |
probably null |
Het |
Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
Wwc2 |
A |
T |
8: 48,316,906 (GRCm39) |
I729K |
unknown |
Het |
Zbtb44 |
A |
G |
9: 30,964,601 (GRCm39) |
|
probably null |
Het |
Zfp800 |
A |
T |
6: 28,242,992 (GRCm39) |
S658T |
probably damaging |
Het |
Zfp825 |
T |
C |
13: 74,628,665 (GRCm39) |
T284A |
possibly damaging |
Het |
Zfp935 |
G |
T |
13: 62,602,632 (GRCm39) |
Y189* |
probably null |
Het |
Zkscan1 |
T |
A |
5: 138,095,363 (GRCm39) |
H203Q |
probably benign |
Het |
Zkscan14 |
T |
C |
5: 145,132,604 (GRCm39) |
D309G |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTCATGAGGGAGTCATAGCC -3'
(R):5'- CTTCAAAAGAGGCCAAGGATTC -3'
Sequencing Primer
(F):5'- GGGAGTCATAGCCCATCTTTAACCG -3'
(R):5'- GGCCAAGGATTCCAAGGCTAC -3'
|
Posted On |
2016-08-04 |