Incidental Mutation 'R3721:Il18rap'
ID |
258883 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Il18rap
|
Ensembl Gene |
ENSMUSG00000026068 |
Gene Name |
interleukin 18 receptor accessory protein |
Synonyms |
AcPL accessory protein-like) |
MMRRC Submission |
040712-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3721 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
40554522-40590865 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 40576248 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 253
(L253Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027237
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027237]
|
AlphaFold |
Q9Z2B1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027237
AA Change: L253Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000027237 Gene: ENSMUSG00000026068 AA Change: L253Q
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160468
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163057
|
Meta Mutation Damage Score |
0.7050 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
Validation Efficiency |
100% (59/59) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr2a |
T |
C |
2: 48,782,150 (GRCm39) |
S228P |
probably damaging |
Het |
Adamts2 |
C |
T |
11: 50,664,038 (GRCm39) |
|
probably benign |
Het |
Arhgap9 |
A |
G |
10: 127,164,840 (GRCm39) |
E588G |
possibly damaging |
Het |
Ash2l |
C |
G |
8: 26,308,653 (GRCm39) |
G453A |
probably damaging |
Het |
Catsperg2 |
A |
G |
7: 29,404,527 (GRCm39) |
V638A |
probably benign |
Het |
Ccrl2 |
T |
C |
9: 110,885,432 (GRCm39) |
D22G |
probably benign |
Het |
Cdc73 |
T |
C |
1: 143,571,191 (GRCm39) |
I83V |
possibly damaging |
Het |
Ceacam23 |
A |
G |
7: 17,636,663 (GRCm39) |
T247A |
probably benign |
Het |
Clec2e |
C |
A |
6: 129,071,373 (GRCm39) |
E155* |
probably null |
Het |
Cyp3a59 |
T |
A |
5: 146,033,407 (GRCm39) |
M181K |
probably damaging |
Het |
Dars2 |
A |
T |
1: 160,890,878 (GRCm39) |
V111E |
probably benign |
Het |
Diras2 |
T |
A |
13: 52,662,059 (GRCm39) |
I83F |
probably damaging |
Het |
Dlg2 |
T |
A |
7: 91,361,008 (GRCm39) |
|
probably null |
Het |
Dnai1 |
G |
A |
4: 41,602,615 (GRCm39) |
R113H |
probably damaging |
Het |
Eeig2 |
C |
T |
3: 108,887,083 (GRCm39) |
R305Q |
probably damaging |
Het |
Emilin2 |
T |
C |
17: 71,580,449 (GRCm39) |
N759S |
probably benign |
Het |
F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
Ggnbp1 |
T |
C |
17: 27,248,587 (GRCm39) |
V52A |
probably benign |
Het |
Gpr171 |
A |
G |
3: 59,005,091 (GRCm39) |
V228A |
possibly damaging |
Het |
Gsta3 |
T |
C |
1: 21,330,313 (GRCm39) |
M55T |
probably benign |
Het |
Hectd3 |
T |
A |
4: 116,856,942 (GRCm39) |
N496K |
probably benign |
Het |
Hp1bp3 |
T |
G |
4: 137,966,919 (GRCm39) |
F367V |
probably damaging |
Het |
Irs1 |
C |
T |
1: 82,267,806 (GRCm39) |
G137S |
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lair1 |
A |
C |
7: 4,013,782 (GRCm39) |
L155R |
probably damaging |
Het |
Larp7 |
A |
G |
3: 127,340,460 (GRCm39) |
L126P |
probably damaging |
Het |
Lhx1 |
G |
A |
11: 84,412,654 (GRCm39) |
R89C |
probably damaging |
Het |
Lypd4 |
C |
A |
7: 24,564,884 (GRCm39) |
A85S |
probably benign |
Het |
Mei1 |
A |
G |
15: 81,987,405 (GRCm39) |
H399R |
possibly damaging |
Het |
Myh10 |
G |
T |
11: 68,703,878 (GRCm39) |
R1863L |
probably damaging |
Het |
Myo9a |
G |
A |
9: 59,775,463 (GRCm39) |
V1025I |
probably benign |
Het |
Naa25 |
T |
A |
5: 121,569,619 (GRCm39) |
D659E |
probably benign |
Het |
Nol9 |
A |
G |
4: 152,124,163 (GRCm39) |
S118G |
probably benign |
Het |
Or4k2 |
C |
T |
14: 50,424,137 (GRCm39) |
C179Y |
probably damaging |
Het |
Or5p72 |
G |
T |
7: 108,022,326 (GRCm39) |
D183Y |
probably damaging |
Het |
Pde10a |
T |
A |
17: 9,188,421 (GRCm39) |
I907N |
probably damaging |
Het |
Pkhd1 |
T |
C |
1: 20,655,879 (GRCm39) |
D218G |
probably benign |
Het |
Poll |
A |
G |
19: 45,542,016 (GRCm39) |
I430T |
probably damaging |
Het |
Pomgnt1 |
T |
G |
4: 116,010,740 (GRCm39) |
|
probably benign |
Het |
Rab6b |
T |
C |
9: 103,044,373 (GRCm39) |
|
probably null |
Het |
Rad1 |
T |
C |
15: 10,488,112 (GRCm39) |
S79P |
probably benign |
Het |
Ranbp17 |
GCCTGGATACTGACC |
GCC |
11: 33,169,203 (GRCm39) |
|
probably benign |
Het |
Rcc1 |
T |
C |
4: 132,065,125 (GRCm39) |
K133E |
possibly damaging |
Het |
Ric8a |
T |
C |
7: 140,441,874 (GRCm39) |
|
probably null |
Het |
Rnf135 |
G |
T |
11: 80,087,743 (GRCm39) |
A231S |
probably benign |
Het |
Rps6ka4 |
A |
G |
19: 6,816,645 (GRCm39) |
V146A |
possibly damaging |
Het |
Sh3bp4 |
A |
G |
1: 89,073,050 (GRCm39) |
I633V |
possibly damaging |
Het |
Slc2a2 |
T |
A |
3: 28,781,301 (GRCm39) |
N446K |
probably damaging |
Het |
Slc44a1 |
T |
C |
4: 53,491,445 (GRCm39) |
Y61H |
probably damaging |
Het |
Slc7a1 |
G |
A |
5: 148,272,343 (GRCm39) |
R445* |
probably null |
Het |
Smc5 |
T |
C |
19: 23,187,856 (GRCm39) |
M911V |
probably benign |
Het |
Sntb1 |
C |
A |
15: 55,506,214 (GRCm39) |
R453L |
probably benign |
Het |
Spink4 |
T |
A |
4: 40,929,136 (GRCm39) |
C54S |
probably damaging |
Het |
Srrm2 |
CTCCTCTTCTTCCTCTTCTTCCTC |
CTCCTCTTCTTCCTC |
17: 24,041,549 (GRCm39) |
|
probably benign |
Het |
Trpm1 |
T |
G |
7: 63,867,475 (GRCm39) |
|
probably benign |
Het |
Tufm |
T |
C |
7: 126,089,632 (GRCm39) |
M442T |
probably benign |
Het |
Ubn1 |
A |
G |
16: 4,891,242 (GRCm39) |
N539S |
possibly damaging |
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 |
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 |
|
R6992:Il18rap
|
UTSW |
1 |
40,581,195 (GRCm39) |
missense |
probably benign |
0.00 |
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'- AAAAGGAGCAGCAGCATCTTC -3'
(R):5'- AACTCATCAGGGCCAAGTG -3'
Sequencing Primer
(F):5'- CCCTGTACTGGGGCATACAAAG -3'
(R):5'- TGAAGGTACACAGCGAATACTCTAGC -3'
|
Posted On |
2015-01-23 |