Incidental Mutation 'R8422:Il12rb2'
| ID |
653252 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il12rb2
|
| Ensembl Gene |
ENSMUSG00000018341 |
| Gene Name |
interleukin 12 receptor, beta 2 |
| Synonyms |
A930027I18Rik, Ifnm, IL-12RB2 |
| MMRRC Submission |
067817-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8422 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
67268302-67353172 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 67337800 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 27
(V27E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000010605
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018485]
|
| AlphaFold |
P97378 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018485
AA Change: V27E
PolyPhen 2
Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000010605
Gene: ENSMUSG00000018341
AA Change: V27E
| 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: 99.2%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
G |
T |
14: 32,384,254 (GRCm39) |
S570R |
possibly damaging |
Het |
| 4921517D22Rik |
T |
C |
13: 59,839,443 (GRCm39) |
M1V |
probably null |
Het |
| 4921524J17Rik |
T |
G |
8: 86,138,918 (GRCm39) |
K57T |
possibly damaging |
Het |
| 4930596D02Rik |
G |
T |
14: 35,532,009 (GRCm39) |
Q189K |
probably benign |
Het |
| Anapc1 |
T |
C |
2: 128,517,757 (GRCm39) |
T296A |
probably benign |
Het |
| Aqp7 |
T |
A |
4: 41,035,622 (GRCm39) |
M78L |
probably benign |
Het |
| C1qtnf5 |
C |
A |
9: 44,019,961 (GRCm39) |
A195E |
possibly damaging |
Het |
| Calhm2 |
T |
C |
19: 47,121,579 (GRCm39) |
I197V |
probably benign |
Het |
| Ccdc186 |
G |
A |
19: 56,801,617 (GRCm39) |
L167F |
probably benign |
Het |
| Ccr3 |
T |
C |
9: 123,828,799 (GRCm39) |
Y45H |
probably damaging |
Het |
| Cct3 |
G |
C |
3: 88,208,126 (GRCm39) |
R38P |
probably damaging |
Het |
| Clstn2 |
T |
C |
9: 97,340,239 (GRCm39) |
D711G |
probably benign |
Het |
| Dab2ip |
T |
A |
2: 35,597,767 (GRCm39) |
I157N |
probably damaging |
Het |
| Dchs2 |
T |
C |
3: 83,232,570 (GRCm39) |
V2185A |
probably benign |
Het |
| Dis3l2 |
A |
G |
1: 86,782,099 (GRCm39) |
T219A |
probably benign |
Het |
| F2rl3 |
G |
T |
8: 73,489,813 (GRCm39) |
V347L |
probably benign |
Het |
| Fastkd1 |
A |
G |
2: 69,532,778 (GRCm39) |
S530P |
probably damaging |
Het |
| Fgfr3 |
T |
A |
5: 33,892,249 (GRCm39) |
Y689* |
probably null |
Het |
| Gm10521 |
A |
G |
1: 171,724,026 (GRCm39) |
I112M |
unknown |
Het |
| Gm9736 |
C |
A |
10: 77,586,714 (GRCm39) |
V159F |
unknown |
Het |
| Hba-x |
A |
T |
11: 32,227,736 (GRCm39) |
H88L |
probably benign |
Het |
| Imp4 |
G |
T |
1: 34,482,997 (GRCm39) |
G196V |
probably damaging |
Het |
| Itga11 |
A |
C |
9: 62,674,960 (GRCm39) |
I831L |
probably benign |
Het |
| Macf1 |
C |
T |
4: 123,303,279 (GRCm39) |
V408I |
possibly damaging |
Het |
| Nedd4 |
T |
A |
9: 72,649,964 (GRCm39) |
D771E |
probably damaging |
Het |
| Noc3l |
T |
C |
19: 38,795,547 (GRCm39) |
Y413C |
probably benign |
Het |
| Npas3 |
C |
A |
12: 54,115,292 (GRCm39) |
T738K |
probably benign |
Het |
| Ntrk2 |
A |
T |
13: 59,133,715 (GRCm39) |
D498V |
probably damaging |
Het |
| Nyap1 |
T |
C |
5: 137,734,083 (GRCm39) |
T317A |
probably benign |
Het |
| Or10g7 |
T |
C |
9: 39,905,850 (GRCm39) |
L248P |
probably damaging |
Het |
| Or14a256 |
T |
A |
7: 86,265,466 (GRCm39) |
H129L |
probably benign |
Het |
| Or4c107 |
T |
C |
2: 88,789,341 (GRCm39) |
M177T |
probably benign |
Het |
| Or5d47 |
T |
A |
2: 87,804,143 (GRCm39) |
I289L |
probably benign |
Het |
| Pcdhb20 |
A |
T |
18: 37,637,849 (GRCm39) |
D125V |
probably damaging |
Het |
| Phc3 |
G |
A |
3: 30,984,039 (GRCm39) |
Q692* |
probably null |
Het |
| Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
| Ppp1r12a |
T |
A |
10: 108,077,042 (GRCm39) |
H339Q |
probably benign |
Het |
| Ppp1r3a |
G |
A |
6: 14,718,434 (GRCm39) |
Q827* |
probably null |
Het |
| Ptpra |
T |
A |
2: 130,374,091 (GRCm39) |
I265N |
possibly damaging |
Het |
| Rabggta |
G |
T |
14: 55,955,915 (GRCm39) |
H447Q |
probably benign |
Het |
| Ralgps1 |
T |
C |
2: 33,062,442 (GRCm39) |
D277G |
possibly damaging |
Het |
| Riok3 |
A |
T |
18: 12,269,869 (GRCm39) |
E100V |
probably null |
Het |
| Rtcb |
C |
T |
10: 85,779,168 (GRCm39) |
V362M |
probably benign |
Het |
| Scd2 |
G |
T |
19: 44,289,743 (GRCm39) |
C246F |
probably benign |
Het |
| Slco6c1 |
T |
C |
1: 97,053,508 (GRCm39) |
E131G |
probably damaging |
Het |
| Tanc2 |
A |
G |
11: 105,726,014 (GRCm39) |
M393V |
probably benign |
Het |
| Tas2r136 |
A |
T |
6: 132,754,290 (GRCm39) |
I279N |
probably damaging |
Het |
| Tbx3 |
G |
T |
5: 119,818,581 (GRCm39) |
K405N |
possibly damaging |
Het |
| Thumpd2 |
A |
T |
17: 81,334,373 (GRCm39) |
V405D |
probably damaging |
Het |
| Tlr12 |
A |
G |
4: 128,510,427 (GRCm39) |
S608P |
probably damaging |
Het |
| Wfs1 |
T |
C |
5: 37,131,219 (GRCm39) |
K165E |
probably benign |
Het |
| Zfp810 |
C |
A |
9: 22,194,518 (GRCm39) |
E57* |
probably null |
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 |
|
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 |
|
|
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'- GTCATACCAAGGGACAGGTTG -3'
(R):5'- TGTTCTCCAGCATCACCAATAC -3'
Sequencing Primer
(F):5'- CATGGACTTTCTTGCCATGGAG -3'
(R):5'- CTCCTGGAGCAACGTACATTATTAG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation