Incidental Mutation 'R7992:Il12rb2'
ID |
651804 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Il12rb2
|
Ensembl Gene |
ENSMUSG00000018341 |
Gene Name |
interleukin 12 receptor, beta 2 |
Synonyms |
A930027I18Rik, Ifnm, IL-12RB2 |
MMRRC Submission |
046033-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7992 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
67268302-67353172 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 67328311 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 306
(Y306*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000010605
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018485]
|
AlphaFold |
P97378 |
Predicted Effect |
probably null
Transcript: ENSMUST00000018485
AA Change: Y306*
|
SMART Domains |
Protein: ENSMUSP00000010605 Gene: ENSMUSG00000018341 AA Change: Y306*
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: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts12 |
A |
G |
15: 11,310,904 (GRCm39) |
T1054A |
probably benign |
Het |
Ankfn1 |
A |
C |
11: 89,413,859 (GRCm39) |
I172S |
probably benign |
Het |
Ano3 |
T |
C |
2: 110,605,367 (GRCm39) |
T280A |
possibly damaging |
Het |
Arhgef37 |
T |
A |
18: 61,638,827 (GRCm39) |
E307D |
probably benign |
Het |
Bptf |
C |
T |
11: 107,001,709 (GRCm39) |
V468I |
probably benign |
Het |
Ces1b |
A |
G |
8: 93,786,987 (GRCm39) |
V464A |
probably benign |
Het |
Cmc2 |
A |
T |
8: 117,616,446 (GRCm39) |
L93* |
probably null |
Het |
Ddx60 |
A |
G |
8: 62,407,569 (GRCm39) |
D360G |
probably benign |
Het |
Dock6 |
C |
T |
9: 21,744,135 (GRCm39) |
|
probably null |
Het |
Erp44 |
A |
G |
4: 48,218,136 (GRCm39) |
F178L |
possibly damaging |
Het |
Fam47e |
T |
C |
5: 92,722,541 (GRCm39) |
V79A |
probably damaging |
Het |
Fancd2 |
T |
C |
6: 113,542,165 (GRCm39) |
S770P |
probably damaging |
Het |
Fcgr1 |
A |
G |
3: 96,191,897 (GRCm39) |
F304L |
probably benign |
Het |
Fkbp15 |
T |
C |
4: 62,230,538 (GRCm39) |
E725G |
probably damaging |
Het |
Fn1 |
T |
C |
1: 71,638,825 (GRCm39) |
I1971V |
probably benign |
Het |
Gdf6 |
A |
G |
4: 9,844,652 (GRCm39) |
S59G |
probably benign |
Het |
Gm5773 |
T |
A |
3: 93,680,373 (GRCm39) |
I15N |
possibly damaging |
Het |
Hesx1 |
T |
C |
14: 26,723,379 (GRCm39) |
S70P |
probably benign |
Het |
Htr5a |
T |
C |
5: 28,055,995 (GRCm39) |
S329P |
probably damaging |
Het |
Htt |
T |
C |
5: 34,987,225 (GRCm39) |
|
probably null |
Het |
Iba57 |
T |
A |
11: 59,052,288 (GRCm39) |
M118L |
unknown |
Het |
Ifi35 |
C |
T |
11: 101,348,307 (GRCm39) |
Q112* |
probably null |
Het |
Il12rb1 |
G |
T |
8: 71,265,233 (GRCm39) |
R183L |
possibly damaging |
Het |
Ints1 |
C |
G |
5: 139,742,282 (GRCm39) |
D1722H |
probably damaging |
Het |
Ipp |
T |
G |
4: 116,381,453 (GRCm39) |
D317E |
probably damaging |
Het |
Kif26a |
A |
G |
12: 112,142,481 (GRCm39) |
T912A |
probably benign |
Het |
Klhdc7a |
A |
G |
4: 139,693,045 (GRCm39) |
V634A |
probably damaging |
Het |
Klhl40 |
C |
A |
9: 121,607,748 (GRCm39) |
P303T |
probably damaging |
Het |
Krt13 |
T |
C |
11: 100,008,478 (GRCm39) |
T420A |
unknown |
Het |
Lpcat2 |
T |
C |
8: 93,582,186 (GRCm39) |
F35S |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,289,753 (GRCm39) |
V5470A |
probably damaging |
Het |
Mta2 |
T |
C |
19: 8,925,151 (GRCm39) |
|
probably null |
Het |
Muc16 |
G |
T |
9: 18,567,725 (GRCm39) |
T1598K |
unknown |
Het |
Nckap5 |
A |
T |
1: 125,954,547 (GRCm39) |
N668K |
probably damaging |
Het |
Nlrp4a |
A |
T |
7: 26,150,070 (GRCm39) |
D559V |
possibly damaging |
Het |
Npat |
T |
C |
9: 53,474,167 (GRCm39) |
L653P |
probably benign |
Het |
Oog1 |
G |
A |
12: 87,655,252 (GRCm39) |
V467I |
possibly damaging |
Het |
Or4c15b |
A |
G |
2: 89,113,082 (GRCm39) |
S132P |
probably benign |
Het |
Or4f56 |
C |
T |
2: 111,703,280 (GRCm39) |
A307T |
probably benign |
Het |
Pdzph1 |
T |
A |
17: 59,186,105 (GRCm39) |
M1229L |
possibly damaging |
Het |
Piwil4 |
T |
A |
9: 14,614,445 (GRCm39) |
Q106L |
|
Het |
Plekha5 |
C |
A |
6: 140,472,267 (GRCm39) |
R65S |
probably damaging |
Het |
Ptger4 |
T |
C |
15: 5,264,381 (GRCm39) |
Y425C |
probably damaging |
Het |
Pus7 |
A |
G |
5: 23,951,465 (GRCm39) |
M534T |
possibly damaging |
Het |
Rtkn2 |
C |
T |
10: 67,875,923 (GRCm39) |
P411S |
probably damaging |
Het |
Scand1 |
G |
A |
2: 156,154,232 (GRCm39) |
P13S |
unknown |
Het |
Scaper |
T |
C |
9: 55,765,438 (GRCm39) |
H550R |
probably benign |
Het |
Senp5 |
T |
A |
16: 31,796,514 (GRCm39) |
K617I |
probably damaging |
Het |
Shq1 |
A |
G |
6: 100,613,972 (GRCm39) |
L282P |
probably damaging |
Het |
Slc12a6 |
T |
A |
2: 112,166,256 (GRCm39) |
C227S |
probably damaging |
Het |
Slc5a9 |
T |
A |
4: 111,747,729 (GRCm39) |
T284S |
probably benign |
Het |
Stat2 |
T |
A |
10: 128,120,831 (GRCm39) |
F579L |
probably damaging |
Het |
Tes |
G |
T |
6: 17,096,242 (GRCm39) |
A77S |
possibly damaging |
Het |
Themis |
A |
T |
10: 28,637,342 (GRCm39) |
T149S |
probably benign |
Het |
Tmprss6 |
C |
T |
15: 78,326,664 (GRCm39) |
R653H |
probably benign |
Het |
Trmt6 |
G |
A |
2: 132,652,959 (GRCm39) |
L107F |
probably damaging |
Het |
Trpm6 |
T |
C |
19: 18,792,714 (GRCm39) |
C713R |
probably damaging |
Het |
Trpm7 |
T |
C |
2: 126,667,454 (GRCm39) |
I820V |
probably benign |
Het |
Usp45 |
G |
A |
4: 21,824,543 (GRCm39) |
A432T |
probably benign |
Het |
Xab2 |
A |
T |
8: 3,668,622 (GRCm39) |
V82E |
possibly damaging |
Het |
Zfp938 |
T |
A |
10: 82,061,777 (GRCm39) |
Y281F |
possibly damaging |
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 |
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'- GCATCATAAAACTTACCTTCTGGG -3'
(R):5'- TGCTTTGGCCATTGCACAC -3'
Sequencing Primer
(F):5'- TGCACTGAAAGAGTCTGCTC -3'
(R):5'- CACACTGTGTGCCTGTTGTGAAC -3'
|
Posted On |
2020-09-15 |