Incidental Mutation 'R6992:Il18rap'
ID |
543883 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Il18rap
|
Ensembl Gene |
ENSMUSG00000026068 |
Gene Name |
interleukin 18 receptor accessory protein |
Synonyms |
AcPL accessory protein-like) |
MMRRC Submission |
045098-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6992 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
40554522-40590865 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 40581195 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 356
(E356K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027237
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027237]
|
AlphaFold |
Q9Z2B1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027237
AA Change: E356K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000027237 Gene: ENSMUSG00000026068 AA Change: E356K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
Blast:IG_like
|
31 |
144 |
2e-36 |
BLAST |
IG
|
159 |
240 |
2.94e0 |
SMART |
IG
|
257 |
354 |
1.35e0 |
SMART |
transmembrane domain
|
363 |
385 |
N/A |
INTRINSIC |
TIR
|
406 |
561 |
3.68e-35 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (64/64) |
MGI Phenotype |
FUNCTION: Interleukin-18 (or interferon-gamma inducing factor) is a proinflammatory cytokine that induces cell-mediated immunity following microbial infection. This gene encodes a member of the interleukin-1 receptor family. The encoded protein is an accessory subunit of the receptor for interleukin-18 and mediates signaling through this cytokine. Mice lacking this gene exhibit a defective cell-mediated immune response. [provided by RefSeq, Jan 2014] PHENOTYPE: Homozygous null mice exhibit defective IL-18-mediated immune responses such as the inability of splenocytes, T helper 1 cells and neutrophils to produce cytokines in response to IL-18. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921539E11Rik |
C |
T |
4: 103,099,990 (GRCm39) |
S171N |
possibly damaging |
Het |
6030468B19Rik |
T |
G |
11: 117,688,594 (GRCm39) |
M1R |
probably null |
Het |
A730049H05Rik |
T |
C |
6: 92,804,975 (GRCm39) |
|
probably benign |
Het |
AC125199.3 |
G |
T |
16: 88,608,915 (GRCm39) |
H52Q |
possibly damaging |
Het |
Adam34 |
A |
T |
8: 44,105,642 (GRCm39) |
M1K |
probably null |
Het |
Adgrf5 |
T |
C |
17: 43,763,214 (GRCm39) |
|
probably null |
Het |
Antxr2 |
T |
C |
5: 98,108,564 (GRCm39) |
T316A |
probably benign |
Het |
Cc2d1a |
A |
T |
8: 84,861,542 (GRCm39) |
V714D |
probably damaging |
Het |
Cd96 |
A |
G |
16: 45,870,087 (GRCm39) |
S461P |
possibly damaging |
Het |
Cdc16 |
C |
A |
8: 13,809,188 (GRCm39) |
A51E |
probably benign |
Het |
Chd4 |
T |
A |
6: 125,091,339 (GRCm39) |
D1243E |
probably benign |
Het |
Cntf |
A |
T |
19: 12,742,697 (GRCm39) |
I21N |
probably damaging |
Het |
Col11a2 |
C |
T |
17: 34,266,118 (GRCm39) |
A282V |
probably benign |
Het |
Col14a1 |
T |
A |
15: 55,274,958 (GRCm39) |
|
probably null |
Het |
Cyp2b9 |
T |
C |
7: 25,900,564 (GRCm39) |
Y401H |
probably benign |
Het |
Dlgap4 |
A |
G |
2: 156,590,860 (GRCm39) |
|
probably null |
Het |
Fancd2 |
T |
C |
6: 113,547,979 (GRCm39) |
|
probably null |
Het |
Fcgbpl1 |
T |
A |
7: 27,839,608 (GRCm39) |
F474I |
probably benign |
Het |
Frem1 |
A |
G |
4: 82,858,599 (GRCm39) |
V1622A |
possibly damaging |
Het |
Golm1 |
ACTTCTTCT |
ACTTCT |
13: 59,797,390 (GRCm39) |
|
probably benign |
Het |
Gstm4 |
A |
G |
3: 107,951,981 (GRCm39) |
M3T |
possibly damaging |
Het |
Hdac10 |
T |
C |
15: 89,009,534 (GRCm39) |
D466G |
probably benign |
Het |
Hook2 |
A |
G |
8: 85,729,185 (GRCm39) |
E625G |
probably damaging |
Het |
Hspbp1 |
G |
C |
7: 4,667,714 (GRCm39) |
P260A |
probably benign |
Het |
Igdcc3 |
C |
A |
9: 65,088,853 (GRCm39) |
Q411K |
probably damaging |
Het |
Inpp4a |
A |
T |
1: 37,428,772 (GRCm39) |
M699L |
probably damaging |
Het |
Klhdc1 |
A |
G |
12: 69,300,531 (GRCm39) |
H157R |
probably damaging |
Het |
Klhl6 |
G |
T |
16: 19,772,337 (GRCm39) |
T336N |
probably damaging |
Het |
Marchf7 |
T |
C |
2: 60,059,428 (GRCm39) |
|
probably null |
Het |
Mast4 |
C |
T |
13: 102,941,155 (GRCm39) |
V301I |
probably damaging |
Het |
Mlh3 |
T |
A |
12: 85,282,494 (GRCm39) |
N1412Y |
probably damaging |
Het |
Mrps27 |
A |
G |
13: 99,541,522 (GRCm39) |
M209V |
probably benign |
Het |
Mtor |
A |
T |
4: 148,548,932 (GRCm39) |
T572S |
probably benign |
Het |
Neurog1 |
T |
C |
13: 56,399,363 (GRCm39) |
K128R |
probably damaging |
Het |
Or10g6 |
T |
A |
9: 39,933,896 (GRCm39) |
L69* |
probably null |
Het |
Or2b4 |
T |
A |
17: 38,116,754 (GRCm39) |
N239K |
probably damaging |
Het |
Or5b122 |
A |
G |
19: 13,562,811 (GRCm39) |
I48V |
possibly damaging |
Het |
Pcdhgb1 |
A |
G |
18: 37,814,652 (GRCm39) |
K381R |
probably benign |
Het |
Pdzd2 |
T |
C |
15: 12,457,945 (GRCm39) |
D306G |
probably damaging |
Het |
Plekha5 |
C |
T |
6: 140,489,634 (GRCm39) |
T237I |
probably damaging |
Het |
Plscr1l1 |
T |
C |
9: 92,236,725 (GRCm39) |
M128T |
probably benign |
Het |
Pole |
A |
T |
5: 110,480,365 (GRCm39) |
I103F |
probably damaging |
Het |
Ppfia2 |
A |
T |
10: 106,310,715 (GRCm39) |
Q74L |
possibly damaging |
Het |
Ppm1d |
T |
C |
11: 85,223,178 (GRCm39) |
F261S |
probably damaging |
Het |
Psg21 |
A |
T |
7: 18,388,668 (GRCm39) |
|
probably null |
Het |
Ptprg |
T |
A |
14: 11,962,602 (GRCm38) |
F133L |
probably damaging |
Het |
Rom1 |
G |
A |
19: 8,906,569 (GRCm39) |
|
probably benign |
Het |
Rtn3 |
A |
G |
19: 7,412,489 (GRCm39) |
F762L |
probably damaging |
Het |
Sec23ip |
T |
C |
7: 128,367,164 (GRCm39) |
S600P |
probably benign |
Het |
Sema4b |
T |
A |
7: 79,869,900 (GRCm39) |
I396N |
probably damaging |
Het |
Serpina3k |
T |
A |
12: 104,307,366 (GRCm39) |
D199E |
probably benign |
Het |
Slc19a1 |
A |
G |
10: 76,885,540 (GRCm39) |
D480G |
possibly damaging |
Het |
Slc8b1 |
G |
A |
5: 120,665,880 (GRCm39) |
V404M |
probably damaging |
Het |
Slco1a4 |
T |
C |
6: 141,765,330 (GRCm39) |
D304G |
probably benign |
Het |
Smpdl3b |
G |
T |
4: 132,472,452 (GRCm39) |
A107D |
possibly damaging |
Het |
Tesk1 |
A |
G |
4: 43,447,006 (GRCm39) |
T465A |
probably benign |
Het |
Tmem245 |
A |
G |
4: 56,937,940 (GRCm39) |
F203L |
probably benign |
Het |
Tnip1 |
T |
A |
11: 54,809,542 (GRCm39) |
I442F |
probably benign |
Het |
Txnip |
A |
G |
3: 96,466,439 (GRCm39) |
K127R |
possibly damaging |
Het |
Usp32 |
A |
C |
11: 84,922,914 (GRCm39) |
L172R |
probably damaging |
Het |
Vmn2r66 |
A |
G |
7: 84,654,436 (GRCm39) |
S508P |
possibly damaging |
Het |
Vwa5b2 |
T |
A |
16: 20,416,952 (GRCm39) |
Y550N |
probably damaging |
Het |
Wdr81 |
G |
A |
11: 75,342,612 (GRCm39) |
A885V |
probably benign |
Het |
|
Other mutations in Il18rap |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00662:Il18rap
|
APN |
1 |
40,581,081 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01467:Il18rap
|
APN |
1 |
40,587,799 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01505:Il18rap
|
APN |
1 |
40,576,244 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02215:Il18rap
|
APN |
1 |
40,587,082 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03307:Il18rap
|
APN |
1 |
40,582,227 (GRCm39) |
missense |
probably benign |
0.01 |
BB006:Il18rap
|
UTSW |
1 |
40,570,740 (GRCm39) |
missense |
probably damaging |
1.00 |
BB007:Il18rap
|
UTSW |
1 |
40,587,803 (GRCm39) |
missense |
probably damaging |
0.99 |
BB016:Il18rap
|
UTSW |
1 |
40,570,740 (GRCm39) |
missense |
probably damaging |
1.00 |
BB017:Il18rap
|
UTSW |
1 |
40,587,803 (GRCm39) |
missense |
probably damaging |
0.99 |
R0136:Il18rap
|
UTSW |
1 |
40,564,218 (GRCm39) |
missense |
probably benign |
0.04 |
R0299:Il18rap
|
UTSW |
1 |
40,564,218 (GRCm39) |
missense |
probably benign |
0.04 |
R0358:Il18rap
|
UTSW |
1 |
40,588,202 (GRCm39) |
missense |
possibly damaging |
0.53 |
R0499:Il18rap
|
UTSW |
1 |
40,564,218 (GRCm39) |
missense |
probably benign |
0.04 |
R0830:Il18rap
|
UTSW |
1 |
40,582,150 (GRCm39) |
missense |
probably damaging |
1.00 |
R1386:Il18rap
|
UTSW |
1 |
40,570,682 (GRCm39) |
missense |
probably benign |
0.00 |
R1817:Il18rap
|
UTSW |
1 |
40,570,687 (GRCm39) |
missense |
probably benign |
0.04 |
R1818:Il18rap
|
UTSW |
1 |
40,570,687 (GRCm39) |
missense |
probably benign |
0.04 |
R1819:Il18rap
|
UTSW |
1 |
40,570,687 (GRCm39) |
missense |
probably benign |
0.04 |
R3721:Il18rap
|
UTSW |
1 |
40,576,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R5634:Il18rap
|
UTSW |
1 |
40,578,536 (GRCm39) |
intron |
probably benign |
|
R5663:Il18rap
|
UTSW |
1 |
40,570,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R5690:Il18rap
|
UTSW |
1 |
40,576,272 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5825:Il18rap
|
UTSW |
1 |
40,570,726 (GRCm39) |
missense |
probably benign |
0.38 |
R6140:Il18rap
|
UTSW |
1 |
40,564,212 (GRCm39) |
missense |
probably benign |
0.04 |
R6291:Il18rap
|
UTSW |
1 |
40,564,049 (GRCm39) |
missense |
probably benign |
0.00 |
R6859:Il18rap
|
UTSW |
1 |
40,564,255 (GRCm39) |
nonsense |
probably null |
|
R7317:Il18rap
|
UTSW |
1 |
40,564,536 (GRCm39) |
missense |
probably damaging |
0.98 |
R7402:Il18rap
|
UTSW |
1 |
40,564,111 (GRCm39) |
missense |
probably benign |
0.01 |
R7465:Il18rap
|
UTSW |
1 |
40,582,249 (GRCm39) |
missense |
probably damaging |
1.00 |
R7561:Il18rap
|
UTSW |
1 |
40,563,537 (GRCm39) |
missense |
probably benign |
0.00 |
R7929:Il18rap
|
UTSW |
1 |
40,570,740 (GRCm39) |
missense |
probably damaging |
1.00 |
R7930:Il18rap
|
UTSW |
1 |
40,587,803 (GRCm39) |
missense |
probably damaging |
0.99 |
R8151:Il18rap
|
UTSW |
1 |
40,564,428 (GRCm39) |
missense |
probably benign |
0.00 |
R8201:Il18rap
|
UTSW |
1 |
40,578,429 (GRCm39) |
missense |
possibly damaging |
0.75 |
R8356:Il18rap
|
UTSW |
1 |
40,564,084 (GRCm39) |
missense |
probably benign |
0.28 |
R8701:Il18rap
|
UTSW |
1 |
40,578,501 (GRCm39) |
missense |
probably benign |
0.01 |
R8870:Il18rap
|
UTSW |
1 |
40,564,280 (GRCm39) |
splice site |
probably benign |
|
R8874:Il18rap
|
UTSW |
1 |
40,564,506 (GRCm39) |
missense |
probably damaging |
1.00 |
R8911:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
R8912:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
R8913:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
R8914:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
R8958:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
R8959:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
R9024:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
R9135:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
R9136:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
R9137:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
R9138:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
R9194:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
R9197:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
R9198:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
R9200:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
R9201:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
R9218:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
R9353:Il18rap
|
UTSW |
1 |
40,587,088 (GRCm39) |
missense |
probably benign |
0.02 |
R9465:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
R9466:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
R9535:Il18rap
|
UTSW |
1 |
40,586,990 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTCTGAGCACAGCTTCACG -3'
(R):5'- CTCAGGTCAAAGTCAGTTGTATGG -3'
Sequencing Primer
(F):5'- CAGCTTCACGAATGGCAGTTGATC -3'
(R):5'- CAGTTGTATGGTCATAGTCAAGGCC -3'
|
Posted On |
2019-05-13 |