Incidental Mutation 'R6482:Il12rb2'
| ID |
517162 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il12rb2
|
| Ensembl Gene |
ENSMUSG00000018341 |
| Gene Name |
interleukin 12 receptor, beta 2 |
| Synonyms |
A930027I18Rik, Ifnm, IL-12RB2 |
| MMRRC Submission |
044614-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6482 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
67268302-67353172 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 67333670 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 203
(L203P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000010605
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018485]
|
| AlphaFold |
P97378 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018485
AA Change: L203P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000010605
Gene: ENSMUSG00000018341
AA Change: L203P
| 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: 99.5%
- 10x: 97.4%
- 20x: 91.6%
|
| Validation Efficiency |
100% (40/40) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadvl |
T |
C |
11: 69,902,388 (GRCm39) |
I415V |
probably benign |
Het |
| Akap8l |
A |
G |
17: 32,564,370 (GRCm39) |
F6L |
possibly damaging |
Het |
| Ano3 |
T |
A |
2: 110,527,400 (GRCm39) |
N603Y |
probably damaging |
Het |
| Casp8ap2 |
T |
C |
4: 32,634,813 (GRCm39) |
S116P |
probably damaging |
Het |
| Ccdc110 |
A |
T |
8: 46,395,825 (GRCm39) |
Q572L |
probably benign |
Het |
| Chit1 |
T |
C |
1: 134,070,980 (GRCm39) |
S20P |
probably damaging |
Het |
| Col22a1 |
G |
A |
15: 71,762,338 (GRCm39) |
P107L |
possibly damaging |
Het |
| Dpys |
T |
C |
15: 39,705,369 (GRCm39) |
H248R |
probably damaging |
Het |
| Dsg2 |
A |
T |
18: 20,734,371 (GRCm39) |
K783I |
possibly damaging |
Het |
| Efnb2 |
A |
T |
8: 8,670,637 (GRCm39) |
V321E |
probably damaging |
Het |
| Eif1ad13 |
A |
G |
12: 87,762,565 (GRCm39) |
Y95C |
probably damaging |
Het |
| Fbxo11 |
A |
T |
17: 88,320,086 (GRCm39) |
Y209N |
probably benign |
Het |
| Gm35315 |
A |
T |
5: 110,225,955 (GRCm39) |
C495S |
possibly damaging |
Het |
| Hrh1 |
A |
G |
6: 114,457,724 (GRCm39) |
Q335R |
possibly damaging |
Het |
| Itgav |
T |
C |
2: 83,624,614 (GRCm39) |
S735P |
probably damaging |
Het |
| Klrg1 |
G |
T |
6: 122,248,412 (GRCm39) |
C162* |
probably null |
Het |
| Mcc |
T |
C |
18: 44,578,931 (GRCm39) |
S651G |
possibly damaging |
Het |
| Nkx2-2 |
T |
A |
2: 147,027,896 (GRCm39) |
I15F |
probably damaging |
Het |
| Nppa |
G |
A |
4: 148,085,328 (GRCm39) |
V13I |
probably benign |
Het |
| Obi1 |
A |
T |
14: 104,717,253 (GRCm39) |
C373* |
probably null |
Het |
| Or8i2 |
G |
C |
2: 86,852,869 (GRCm39) |
F6L |
probably benign |
Het |
| Pde2a |
A |
G |
7: 101,150,244 (GRCm39) |
N228D |
probably benign |
Het |
| Pgpep1l |
C |
T |
7: 67,888,815 (GRCm39) |
|
probably null |
Het |
| Plekhg3 |
A |
G |
12: 76,622,778 (GRCm39) |
N673D |
probably benign |
Het |
| Plxna4 |
A |
G |
6: 32,493,672 (GRCm39) |
S315P |
probably benign |
Het |
| Psg21 |
A |
T |
7: 18,388,664 (GRCm39) |
|
probably null |
Het |
| Rnf111 |
T |
C |
9: 70,336,889 (GRCm39) |
T925A |
probably damaging |
Het |
| Spag9 |
T |
C |
11: 93,984,328 (GRCm39) |
F734L |
possibly damaging |
Het |
| Tarbp1 |
A |
G |
8: 127,177,434 (GRCm39) |
V746A |
probably benign |
Het |
| Tmtc1 |
A |
G |
6: 148,314,243 (GRCm39) |
F119L |
probably benign |
Het |
| Ttc21b |
A |
G |
2: 66,057,244 (GRCm39) |
M576T |
probably benign |
Het |
| Usp48 |
T |
A |
4: 137,362,232 (GRCm39) |
V765E |
probably damaging |
Het |
| Vmn1r20 |
A |
G |
6: 57,409,093 (GRCm39) |
S140G |
probably benign |
Het |
| Vwde |
A |
G |
6: 13,205,843 (GRCm39) |
S235P |
probably damaging |
Het |
| Wapl |
A |
G |
14: 34,414,649 (GRCm39) |
S504G |
probably benign |
Het |
| Wnt5b |
A |
T |
6: 119,410,573 (GRCm39) |
L289Q |
possibly damaging |
Het |
| Zfp142 |
G |
A |
1: 74,609,376 (GRCm39) |
|
probably null |
Het |
| Zfp385b |
ATCTTCTTCTTCT |
ATCTTCTTCTTCTTCT |
2: 77,549,992 (GRCm39) |
|
probably benign |
Het |
| Zfp948 |
A |
G |
17: 21,807,813 (GRCm39) |
H335R |
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 |
|
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'- ATAGCCTTGTACTTTGTCTGTAGC -3'
(R):5'- AGACCAGCCTTAAACCGTCTG -3'
Sequencing Primer
(F):5'- AGCTTCTGTCTCCTTGAAAATAAC -3'
(R):5'- AGCCTTAAACCGTCTGTCTGG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation